SNP Links for Protein (Select 116256333) - SNP

Links from Protein

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Select item 14886037571.

rs1488603757 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:155168506 (GRCh38)
3:154886295 (GRCh37)
Canonical SPDI:: NC_000003.12:155168505:AAA:AA
Gene:: MME (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155168508del, NC_000003.11:g.154886297del, NG_051105.1:g.149385del, NM_000902.5:c.1797del, NM_000902.4:c.1797del, NM_000902.3:c.1797del, NM_007289.4:c.1797del, NM_007289.3:c.1797del, NM_007289.2:c.1797del, NM_007287.4:c.1797del, NM_007287.3:c.1797del, NM_007287.2:c.1797del, NM_007288.3:c.1797del, NM_007288.2:c.1797del, NM_001354642.2:c.1797del, NM_001354642.1:c.1797del, NM_001354643.1:c.1797del, XM_006713647.5:c.1797del, XM_006713647.4:c.1797del, XM_006713647.3:c.1797del, XM_006713647.2:c.1797del, XM_006713647.1:c.1797del, XM_011512857.3:c.1797del, XM_011512857.2:c.1797del, XM_011512857.1:c.1797del, XM_011512856.3:c.1797del, XM_011512856.2:c.1797del, XM_011512856.1:c.1797del, XM_047448157.1:c.1797del, NP_000893.2:p.Asp600fs, NP_009220.2:p.Asp600fs, NP_009218.2:p.Asp600fs, NP_009219.2:p.Asp600fs, NP_001341571.1:p.Asp600fs, NP_001341572.1:p.Asp600fs, XP_006713710.1:p.Asp600fs, XP_011511159.1:p.Asp600fs, XP_011511158.1:p.Asp600fs, XP_047304113.1:p.Asp600fs

Select item 14872112962.

rs1487211296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:155172571 (GRCh38)
3:154890360 (GRCh37)
Canonical SPDI:: NC_000003.12:155172570:T:A
Gene:: MME (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000102/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155172571T>A, NC_000003.11:g.154890360T>A, NG_051105.1:g.153448T>A, NM_000902.5:c.2112T>A, NM_000902.4:c.2112T>A, NM_000902.3:c.2112T>A, NM_007289.4:c.2112T>A, NM_007289.3:c.2112T>A, NM_007289.2:c.2112T>A, NM_007287.4:c.2112T>A, NM_007287.3:c.2112T>A, NM_007287.2:c.2112T>A, NM_007288.3:c.2112T>A, NM_007288.2:c.2112T>A, NM_001354642.2:c.2112T>A, NM_001354642.1:c.2112T>A, NM_001354643.1:c.2112T>A, XM_006713647.5:c.2112T>A, XM_006713647.4:c.2112T>A, XM_006713647.3:c.2112T>A, XM_006713647.2:c.2112T>A, XM_006713647.1:c.2112T>A, XM_011512857.3:c.2112T>A, XM_011512857.2:c.2112T>A, XM_011512857.1:c.2112T>A, XM_011512856.3:c.2112T>A, XM_011512856.2:c.2112T>A, XM_011512856.1:c.2112T>A, XM_047448157.1:c.2112T>A

Select item 14859487693.

rs1485948769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:155143502 (GRCh38)
3:154861291 (GRCh37)
Canonical SPDI:: NC_000003.12:155143501:T:C
Gene:: MME (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.155143502T>C, NC_000003.11:g.154861291T>C, NG_051105.1:g.124379T>C, NM_000902.5:c.1248T>C, NM_000902.4:c.1248T>C, NM_000902.3:c.1248T>C, NM_007289.4:c.1248T>C, NM_007289.3:c.1248T>C, NM_007289.2:c.1248T>C, NM_007287.4:c.1248T>C, NM_007287.3:c.1248T>C, NM_007287.2:c.1248T>C, NM_007288.3:c.1248T>C, NM_007288.2:c.1248T>C, NM_001354642.2:c.1248T>C, NM_001354642.1:c.1248T>C, NM_001354643.1:c.1248T>C, XM_006713647.5:c.1248T>C, XM_006713647.4:c.1248T>C, XM_006713647.3:c.1248T>C, XM_006713647.2:c.1248T>C, XM_006713647.1:c.1248T>C, XM_011512857.3:c.1248T>C, XM_011512857.2:c.1248T>C, XM_011512857.1:c.1248T>C, XM_011512856.3:c.1248T>C, XM_011512856.2:c.1248T>C, XM_011512856.1:c.1248T>C, XM_047448157.1:c.1248T>C

Select item 14856511524.

rs1485651152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:155116942 (GRCh38)
3:154834731 (GRCh37)
Canonical SPDI:: NC_000003.12:155116941:T:C
Gene:: MME (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.155116942T>C, NC_000003.11:g.154834731T>C, NG_051105.1:g.97819T>C, NM_000902.5:c.610T>C, NM_000902.4:c.610T>C, NM_000902.3:c.610T>C, NM_007289.4:c.610T>C, NM_007289.3:c.610T>C, NM_007289.2:c.610T>C, NM_007287.4:c.610T>C, NM_007287.3:c.610T>C, NM_007287.2:c.610T>C, NM_007288.3:c.610T>C, NM_007288.2:c.610T>C, NM_001354642.2:c.610T>C, NM_001354642.1:c.610T>C, NM_001354643.1:c.610T>C, XM_006713647.5:c.610T>C, XM_006713647.4:c.610T>C, XM_006713647.3:c.610T>C, XM_006713647.2:c.610T>C, XM_006713647.1:c.610T>C, XM_011512857.3:c.610T>C, XM_011512857.2:c.610T>C, XM_011512857.1:c.610T>C, XM_011512856.3:c.610T>C, XM_011512856.2:c.610T>C, XM_011512856.1:c.610T>C, XM_047448157.1:c.610T>C, NP_000893.2:p.Phe204Leu, NP_009220.2:p.Phe204Leu, NP_009218.2:p.Phe204Leu, NP_009219.2:p.Phe204Leu, NP_001341571.1:p.Phe204Leu, NP_001341572.1:p.Phe204Leu, XP_006713710.1:p.Phe204Leu, XP_011511159.1:p.Phe204Leu, XP_011511158.1:p.Phe204Leu, XP_047304113.1:p.Phe204Leu

Select item 14849210165.

rs1484921016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:155142052 (GRCh38)
3:154859841 (GRCh37)
Canonical SPDI:: NC_000003.12:155142051:A:T
Gene:: MME (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155142052A>T, NC_000003.11:g.154859841A>T, NG_051105.1:g.122929A>T, NM_000902.5:c.1019A>T, NM_000902.4:c.1019A>T, NM_000902.3:c.1019A>T, NM_007289.4:c.1019A>T, NM_007289.3:c.1019A>T, NM_007289.2:c.1019A>T, NM_007287.4:c.1019A>T, NM_007287.3:c.1019A>T, NM_007287.2:c.1019A>T, NM_007288.3:c.1019A>T, NM_007288.2:c.1019A>T, NM_001354642.2:c.1019A>T, NM_001354642.1:c.1019A>T, NM_001354643.1:c.1019A>T, XM_006713647.5:c.1019A>T, XM_006713647.4:c.1019A>T, XM_006713647.3:c.1019A>T, XM_006713647.2:c.1019A>T, XM_006713647.1:c.1019A>T, XM_011512857.3:c.1019A>T, XM_011512857.2:c.1019A>T, XM_011512857.1:c.1019A>T, XM_011512856.3:c.1019A>T, XM_011512856.2:c.1019A>T, XM_011512856.1:c.1019A>T, XM_047448157.1:c.1019A>T, NP_000893.2:p.Asn340Ile, NP_009220.2:p.Asn340Ile, NP_009218.2:p.Asn340Ile, NP_009219.2:p.Asn340Ile, NP_001341571.1:p.Asn340Ile, NP_001341572.1:p.Asn340Ile, XP_006713710.1:p.Asn340Ile, XP_011511159.1:p.Asn340Ile, XP_011511158.1:p.Asn340Ile, XP_047304113.1:p.Asn340Ile

Select item 14842242166.

rs1484224216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:155138211 (GRCh38)
3:154856000 (GRCh37)
Canonical SPDI:: NC_000003.12:155138210:T:C
Gene:: MME (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.155138211T>C, NC_000003.11:g.154856000T>C, NG_051105.1:g.119088T>C, NM_000902.5:c.830T>C, NM_000902.4:c.830T>C, NM_000902.3:c.830T>C, NM_007289.4:c.830T>C, NM_007289.3:c.830T>C, NM_007289.2:c.830T>C, NM_007287.4:c.830T>C, NM_007287.3:c.830T>C, NM_007287.2:c.830T>C, NM_007288.3:c.830T>C, NM_007288.2:c.830T>C, NM_001354642.2:c.830T>C, NM_001354642.1:c.830T>C, NM_001354643.1:c.830T>C, XM_006713647.5:c.830T>C, XM_006713647.4:c.830T>C, XM_006713647.3:c.830T>C, XM_006713647.2:c.830T>C, XM_006713647.1:c.830T>C, XM_011512857.3:c.830T>C, XM_011512857.2:c.830T>C, XM_011512857.1:c.830T>C, XM_011512856.3:c.830T>C, XM_011512856.2:c.830T>C, XM_011512856.1:c.830T>C, XM_047448157.1:c.830T>C, NP_000893.2:p.Met277Thr, NP_009220.2:p.Met277Thr, NP_009218.2:p.Met277Thr, NP_009219.2:p.Met277Thr, NP_001341571.1:p.Met277Thr, NP_001341572.1:p.Met277Thr, XP_006713710.1:p.Met277Thr, XP_011511159.1:p.Met277Thr, XP_011511158.1:p.Met277Thr, XP_047304113.1:p.Met277Thr

Select item 14841728897.

rs1484172889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:155166969 (GRCh38)
3:154884758 (GRCh37)
Canonical SPDI:: NC_000003.12:155166968:G:A,NC_000003.12:155166968:G:C,NC_000003.12:155166968:G:T
Gene:: MME (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.155166969G>A, NC_000003.12:g.155166969G>C, NC_000003.12:g.155166969G>T, NC_000003.11:g.154884758G>A, NC_000003.11:g.154884758G>C, NC_000003.11:g.154884758G>T, NG_051105.1:g.147846G>A, NG_051105.1:g.147846G>C, NG_051105.1:g.147846G>T, NM_000902.5:c.1728G>A, NM_000902.5:c.1728G>C, NM_000902.5:c.1728G>T, NM_000902.4:c.1728G>A, NM_000902.4:c.1728G>C, NM_000902.4:c.1728G>T, NM_000902.3:c.1728G>A, NM_000902.3:c.1728G>C, NM_000902.3:c.1728G>T, NM_007289.4:c.1728G>A, NM_007289.4:c.1728G>C, NM_007289.4:c.1728G>T, NM_007289.3:c.1728G>A, NM_007289.3:c.1728G>C, NM_007289.3:c.1728G>T, NM_007289.2:c.1728G>A, NM_007289.2:c.1728G>C, NM_007289.2:c.1728G>T, NM_007287.4:c.1728G>A, NM_007287.4:c.1728G>C, NM_007287.4:c.1728G>T, NM_007287.3:c.1728G>A, NM_007287.3:c.1728G>C, NM_007287.3:c.1728G>T, NM_007287.2:c.1728G>A, NM_007287.2:c.1728G>C, NM_007287.2:c.1728G>T, NM_007288.3:c.1728G>A, NM_007288.3:c.1728G>C, NM_007288.3:c.1728G>T, NM_007288.2:c.1728G>A, NM_007288.2:c.1728G>C, NM_007288.2:c.1728G>T, NM_001354642.2:c.1728G>A, NM_001354642.2:c.1728G>C, NM_001354642.2:c.1728G>T, NM_001354642.1:c.1728G>A, NM_001354642.1:c.1728G>C, NM_001354642.1:c.1728G>T, NM_001354643.1:c.1728G>A, NM_001354643.1:c.1728G>C, NM_001354643.1:c.1728G>T, XM_006713647.5:c.1728G>A, XM_006713647.5:c.1728G>C, XM_006713647.5:c.1728G>T, XM_006713647.4:c.1728G>A, XM_006713647.4:c.1728G>C, XM_006713647.4:c.1728G>T, XM_006713647.3:c.1728G>A, XM_006713647.3:c.1728G>C, XM_006713647.3:c.1728G>T, XM_006713647.2:c.1728G>A, XM_006713647.2:c.1728G>C, XM_006713647.2:c.1728G>T, XM_006713647.1:c.1728G>A, XM_006713647.1:c.1728G>C, XM_006713647.1:c.1728G>T, XM_011512857.3:c.1728G>A, XM_011512857.3:c.1728G>C, XM_011512857.3:c.1728G>T, XM_011512857.2:c.1728G>A, XM_011512857.2:c.1728G>C, XM_011512857.2:c.1728G>T, XM_011512857.1:c.1728G>A, XM_011512857.1:c.1728G>C, XM_011512857.1:c.1728G>T, XM_011512856.3:c.1728G>A, XM_011512856.3:c.1728G>C, XM_011512856.3:c.1728G>T, XM_011512856.2:c.1728G>A, XM_011512856.2:c.1728G>C, XM_011512856.2:c.1728G>T, XM_011512856.1:c.1728G>A, XM_011512856.1:c.1728G>C, XM_011512856.1:c.1728G>T, XM_047448157.1:c.1728G>A, XM_047448157.1:c.1728G>C, XM_047448157.1:c.1728G>T

Select item 14836930778.

rs1483693077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:155116915 (GRCh38)
3:154834704 (GRCh37)
Canonical SPDI:: NC_000003.12:155116914:T:C
Gene:: MME (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155116915T>C, NC_000003.11:g.154834704T>C, NG_051105.1:g.97792T>C, NM_000902.5:c.583T>C, NM_000902.4:c.583T>C, NM_000902.3:c.583T>C, NM_007289.4:c.583T>C, NM_007289.3:c.583T>C, NM_007289.2:c.583T>C, NM_007287.4:c.583T>C, NM_007287.3:c.583T>C, NM_007287.2:c.583T>C, NM_007288.3:c.583T>C, NM_007288.2:c.583T>C, NM_001354642.2:c.583T>C, NM_001354642.1:c.583T>C, NM_001354643.1:c.583T>C, XM_006713647.5:c.583T>C, XM_006713647.4:c.583T>C, XM_006713647.3:c.583T>C, XM_006713647.2:c.583T>C, XM_006713647.1:c.583T>C, XM_011512857.3:c.583T>C, XM_011512857.2:c.583T>C, XM_011512857.1:c.583T>C, XM_011512856.3:c.583T>C, XM_011512856.2:c.583T>C, XM_011512856.1:c.583T>C, XM_047448157.1:c.583T>C, NP_000893.2:p.Tyr195His, NP_009220.2:p.Tyr195His, NP_009218.2:p.Tyr195His, NP_009219.2:p.Tyr195His, NP_001341571.1:p.Tyr195His, NP_001341572.1:p.Tyr195His, XP_006713710.1:p.Tyr195His, XP_011511159.1:p.Tyr195His, XP_011511158.1:p.Tyr195His, XP_047304113.1:p.Tyr195His

Select item 14814148989.

rs1481414898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:155147215 (GRCh38)
3:154865004 (GRCh37)
Canonical SPDI:: NC_000003.12:155147214:G:A
Gene:: MME (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155147215G>A, NC_000003.11:g.154865004G>A, NG_051105.1:g.128092G>A, NM_000902.5:c.1488G>A, NM_000902.4:c.1488G>A, NM_000902.3:c.1488G>A, NM_007289.4:c.1488G>A, NM_007289.3:c.1488G>A, NM_007289.2:c.1488G>A, NM_007287.4:c.1488G>A, NM_007287.3:c.1488G>A, NM_007287.2:c.1488G>A, NM_007288.3:c.1488G>A, NM_007288.2:c.1488G>A, NM_001354642.2:c.1488G>A, NM_001354642.1:c.1488G>A, NM_001354643.1:c.1488G>A, XM_006713647.5:c.1488G>A, XM_006713647.4:c.1488G>A, XM_006713647.3:c.1488G>A, XM_006713647.2:c.1488G>A, XM_006713647.1:c.1488G>A, XM_011512857.3:c.1488G>A, XM_011512857.2:c.1488G>A, XM_011512857.1:c.1488G>A, XM_011512856.3:c.1488G>A, XM_011512856.2:c.1488G>A, XM_011512856.1:c.1488G>A, XM_047448157.1:c.1488G>A

Select item 147663843310.

rs1476638433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:155138206 (GRCh38)
3:154855995 (GRCh37)
Canonical SPDI:: NC_000003.12:155138205:A:G
Gene:: MME (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155138206A>G, NC_000003.11:g.154855995A>G, NG_051105.1:g.119083A>G, NM_000902.5:c.825A>G, NM_000902.4:c.825A>G, NM_000902.3:c.825A>G, NM_007289.4:c.825A>G, NM_007289.3:c.825A>G, NM_007289.2:c.825A>G, NM_007287.4:c.825A>G, NM_007287.3:c.825A>G, NM_007287.2:c.825A>G, NM_007288.3:c.825A>G, NM_007288.2:c.825A>G, NM_001354642.2:c.825A>G, NM_001354642.1:c.825A>G, NM_001354643.1:c.825A>G, XM_006713647.5:c.825A>G, XM_006713647.4:c.825A>G, XM_006713647.3:c.825A>G, XM_006713647.2:c.825A>G, XM_006713647.1:c.825A>G, XM_011512857.3:c.825A>G, XM_011512857.2:c.825A>G, XM_011512857.1:c.825A>G, XM_011512856.3:c.825A>G, XM_011512856.2:c.825A>G, XM_011512856.1:c.825A>G, XM_047448157.1:c.825A>G

Select item 147357050211.

rs1473570502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:155115139 (GRCh38)
3:154832928 (GRCh37)
Canonical SPDI:: NC_000003.12:155115138:A:G
Gene:: MME (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155115139A>G, NC_000003.11:g.154832928A>G, NG_051105.1:g.96016A>G, NM_000902.5:c.342A>G, NM_000902.4:c.342A>G, NM_000902.3:c.342A>G, NM_007289.4:c.342A>G, NM_007289.3:c.342A>G, NM_007289.2:c.342A>G, NM_007287.4:c.342A>G, NM_007287.3:c.342A>G, NM_007287.2:c.342A>G, NM_007288.3:c.342A>G, NM_007288.2:c.342A>G, NM_001354642.2:c.342A>G, NM_001354642.1:c.342A>G, NM_001354643.1:c.342A>G, XM_006713647.5:c.342A>G, XM_006713647.4:c.342A>G, XM_006713647.3:c.342A>G, XM_006713647.2:c.342A>G, XM_006713647.1:c.342A>G, XM_011512857.3:c.342A>G, XM_011512857.2:c.342A>G, XM_011512857.1:c.342A>G, XM_011512856.3:c.342A>G, XM_011512856.2:c.342A>G, XM_011512856.1:c.342A>G, XM_047448157.1:c.342A>G

Select item 147309268812.

rs1473092688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:155115034 (GRCh38)
3:154832823 (GRCh37)
Canonical SPDI:: NC_000003.12:155115033:T:C
Gene:: MME (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.155115034T>C, NC_000003.11:g.154832823T>C, NG_051105.1:g.95911T>C, NM_000902.5:c.237T>C, NM_000902.4:c.237T>C, NM_000902.3:c.237T>C, NM_007289.4:c.237T>C, NM_007289.3:c.237T>C, NM_007289.2:c.237T>C, NM_007287.4:c.237T>C, NM_007287.3:c.237T>C, NM_007287.2:c.237T>C, NM_007288.3:c.237T>C, NM_007288.2:c.237T>C, NM_001354642.2:c.237T>C, NM_001354642.1:c.237T>C, NM_001354643.1:c.237T>C, XM_006713647.5:c.237T>C, XM_006713647.4:c.237T>C, XM_006713647.3:c.237T>C, XM_006713647.2:c.237T>C, XM_006713647.1:c.237T>C, XM_011512857.3:c.237T>C, XM_011512857.2:c.237T>C, XM_011512857.1:c.237T>C, XM_011512856.3:c.237T>C, XM_011512856.2:c.237T>C, XM_011512856.1:c.237T>C, XM_047448157.1:c.237T>C

Select item 146874122313.

rs1468741223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:155142127 (GRCh38)
3:154859916 (GRCh37)
Canonical SPDI:: NC_000003.12:155142126:G:T
Gene:: MME (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.155142127G>T, NC_000003.11:g.154859916G>T, NG_051105.1:g.123004G>T, NM_000902.5:c.1094G>T, NM_000902.4:c.1094G>T, NM_000902.3:c.1094G>T, NM_007289.4:c.1094G>T, NM_007289.3:c.1094G>T, NM_007289.2:c.1094G>T, NM_007287.4:c.1094G>T, NM_007287.3:c.1094G>T, NM_007287.2:c.1094G>T, NM_007288.3:c.1094G>T, NM_007288.2:c.1094G>T, NM_001354642.2:c.1094G>T, NM_001354642.1:c.1094G>T, NM_001354643.1:c.1094G>T, XM_006713647.5:c.1094G>T, XM_006713647.4:c.1094G>T, XM_006713647.3:c.1094G>T, XM_006713647.2:c.1094G>T, XM_006713647.1:c.1094G>T, XM_011512857.3:c.1094G>T, XM_011512857.2:c.1094G>T, XM_011512857.1:c.1094G>T, XM_011512856.3:c.1094G>T, XM_011512856.2:c.1094G>T, XM_011512856.1:c.1094G>T, XM_047448157.1:c.1094G>T, NP_000893.2:p.Arg365Ile, NP_009220.2:p.Arg365Ile, NP_009218.2:p.Arg365Ile, NP_009219.2:p.Arg365Ile, NP_001341571.1:p.Arg365Ile, NP_001341572.1:p.Arg365Ile, XP_006713710.1:p.Arg365Ile, XP_011511159.1:p.Arg365Ile, XP_011511158.1:p.Arg365Ile, XP_047304113.1:p.Arg365Ile

Select item 146804598514.

rs1468045985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:155172588 (GRCh38)
3:154890377 (GRCh37)
Canonical SPDI:: NC_000003.12:155172587:A:T
Gene:: MME (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155172588A>T, NC_000003.11:g.154890377A>T, NG_051105.1:g.153465A>T, NM_000902.5:c.2129A>T, NM_000902.4:c.2129A>T, NM_000902.3:c.2129A>T, NM_007289.4:c.2129A>T, NM_007289.3:c.2129A>T, NM_007289.2:c.2129A>T, NM_007287.4:c.2129A>T, NM_007287.3:c.2129A>T, NM_007287.2:c.2129A>T, NM_007288.3:c.2129A>T, NM_007288.2:c.2129A>T, NM_001354642.2:c.2129A>T, NM_001354642.1:c.2129A>T, NM_001354643.1:c.2129A>T, XM_006713647.5:c.2129A>T, XM_006713647.4:c.2129A>T, XM_006713647.3:c.2129A>T, XM_006713647.2:c.2129A>T, XM_006713647.1:c.2129A>T, XM_011512857.3:c.2129A>T, XM_011512857.2:c.2129A>T, XM_011512857.1:c.2129A>T, XM_011512856.3:c.2129A>T, XM_011512856.2:c.2129A>T, XM_011512856.1:c.2129A>T, XM_047448157.1:c.2129A>T, NP_000893.2:p.Asp710Val, NP_009220.2:p.Asp710Val, NP_009218.2:p.Asp710Val, NP_009219.2:p.Asp710Val, NP_001341571.1:p.Asp710Val, NP_001341572.1:p.Asp710Val, XP_006713710.1:p.Asp710Val, XP_011511159.1:p.Asp710Val, XP_011511158.1:p.Asp710Val, XP_047304113.1:p.Asp710Val

Select item 146800948315.

rs1468009483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:155140245 (GRCh38)
3:154858034 (GRCh37)
Canonical SPDI:: NC_000003.12:155140244:A:G
Gene:: MME (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.155140245A>G, NC_000003.11:g.154858034A>G, NG_051105.1:g.121122A>G, NM_000902.5:c.910A>G, NM_000902.4:c.910A>G, NM_000902.3:c.910A>G, NM_007289.4:c.910A>G, NM_007289.3:c.910A>G, NM_007289.2:c.910A>G, NM_007287.4:c.910A>G, NM_007287.3:c.910A>G, NM_007287.2:c.910A>G, NM_007288.3:c.910A>G, NM_007288.2:c.910A>G, NM_001354642.2:c.910A>G, NM_001354642.1:c.910A>G, NM_001354643.1:c.910A>G, XM_006713647.5:c.910A>G, XM_006713647.4:c.910A>G, XM_006713647.3:c.910A>G, XM_006713647.2:c.910A>G, XM_006713647.1:c.910A>G, XM_011512857.3:c.910A>G, XM_011512857.2:c.910A>G, XM_011512857.1:c.910A>G, XM_011512856.3:c.910A>G, XM_011512856.2:c.910A>G, XM_011512856.1:c.910A>G, XM_047448157.1:c.910A>G, NP_000893.2:p.Thr304Ala, NP_009220.2:p.Thr304Ala, NP_009218.2:p.Thr304Ala, NP_009219.2:p.Thr304Ala, NP_001341571.1:p.Thr304Ala, NP_001341572.1:p.Thr304Ala, XP_006713710.1:p.Thr304Ala, XP_011511159.1:p.Thr304Ala, XP_011511158.1:p.Thr304Ala, XP_047304113.1:p.Thr304Ala

Select item 146520562216.

rs1465205622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:155085069 (GRCh38)
3:154802858 (GRCh37)
Canonical SPDI:: NC_000003.12:155085068:C:A
Gene:: MME (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000003.12:g.155085069C>A, NC_000003.11:g.154802858C>A, NG_051105.1:g.65946C>A, NM_000902.5:c.171C>A, NM_000902.4:c.171C>A, NM_000902.3:c.171C>A, NM_007289.4:c.171C>A, NM_007289.3:c.171C>A, NM_007289.2:c.171C>A, NM_007287.4:c.171C>A, NM_007287.3:c.171C>A, NM_007287.2:c.171C>A, NM_007288.3:c.171C>A, NM_007288.2:c.171C>A, NM_001354642.2:c.171C>A, NM_001354642.1:c.171C>A, NM_001354643.1:c.171C>A, NM_001354644.1:c.171C>A, XM_006713647.5:c.171C>A, XM_006713647.4:c.171C>A, XM_006713647.3:c.171C>A, XM_006713647.2:c.171C>A, XM_006713647.1:c.171C>A, XM_011512857.3:c.171C>A, XM_011512857.2:c.171C>A, XM_011512857.1:c.171C>A, XM_011512856.3:c.171C>A, XM_011512856.2:c.171C>A, XM_011512856.1:c.171C>A, XM_047448157.1:c.171C>A, NP_000893.2:p.Cys57Ter, NP_009220.2:p.Cys57Ter, NP_009218.2:p.Cys57Ter, NP_009219.2:p.Cys57Ter, NP_001341571.1:p.Cys57Ter, NP_001341572.1:p.Cys57Ter, NP_001341573.1:p.Cys57Ter, XP_006713710.1:p.Cys57Ter, XP_011511159.1:p.Cys57Ter, XP_011511158.1:p.Cys57Ter, XP_047304113.1:p.Cys57Ter

Select item 146508416117.

rs1465084161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:155116758 (GRCh38)
3:154834547 (GRCh37)
Canonical SPDI:: NC_000003.12:155116757:T:C
Gene:: MME (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.155116758T>C, NC_000003.11:g.154834547T>C, NG_051105.1:g.97635T>C, NM_000902.5:c.534T>C, NM_000902.4:c.534T>C, NM_000902.3:c.534T>C, NM_007289.4:c.534T>C, NM_007289.3:c.534T>C, NM_007289.2:c.534T>C, NM_007287.4:c.534T>C, NM_007287.3:c.534T>C, NM_007287.2:c.534T>C, NM_007288.3:c.534T>C, NM_007288.2:c.534T>C, NM_001354642.2:c.534T>C, NM_001354642.1:c.534T>C, NM_001354643.1:c.534T>C, XM_006713647.5:c.534T>C, XM_006713647.4:c.534T>C, XM_006713647.3:c.534T>C, XM_006713647.2:c.534T>C, XM_006713647.1:c.534T>C, XM_011512857.3:c.534T>C, XM_011512857.2:c.534T>C, XM_011512857.1:c.534T>C, XM_011512856.3:c.534T>C, XM_011512856.2:c.534T>C, XM_011512856.1:c.534T>C, XM_047448157.1:c.534T>C

Select item 146476477918.

rs1464764779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:155172126 (GRCh38)
3:154889915 (GRCh37)
Canonical SPDI:: NC_000003.12:155172125:A:G
Gene:: MME (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.155172126A>G, NC_000003.11:g.154889915A>G, NG_051105.1:g.153003A>G, NM_000902.5:c.1990A>G, NM_000902.4:c.1990A>G, NM_000902.3:c.1990A>G, NM_007289.4:c.1990A>G, NM_007289.3:c.1990A>G, NM_007289.2:c.1990A>G, NM_007287.4:c.1990A>G, NM_007287.3:c.1990A>G, NM_007287.2:c.1990A>G, NM_007288.3:c.1990A>G, NM_007288.2:c.1990A>G, NM_001354642.2:c.1990A>G, NM_001354642.1:c.1990A>G, NM_001354643.1:c.1990A>G, XM_006713647.5:c.1990A>G, XM_006713647.4:c.1990A>G, XM_006713647.3:c.1990A>G, XM_006713647.2:c.1990A>G, XM_006713647.1:c.1990A>G, XM_011512857.3:c.1990A>G, XM_011512857.2:c.1990A>G, XM_011512857.1:c.1990A>G, XM_011512856.3:c.1990A>G, XM_011512856.2:c.1990A>G, XM_011512856.1:c.1990A>G, XM_047448157.1:c.1990A>G, NP_000893.2:p.Asn664Asp, NP_009220.2:p.Asn664Asp, NP_009218.2:p.Asn664Asp, NP_009219.2:p.Asn664Asp, NP_001341571.1:p.Asn664Asp, NP_001341572.1:p.Asn664Asp, XP_006713710.1:p.Asn664Asp, XP_011511159.1:p.Asn664Asp, XP_011511158.1:p.Asn664Asp, XP_047304113.1:p.Asn664Asp

Select item 146269721419.

rs1462697214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:155144399 (GRCh38)
3:154862188 (GRCh37)
Canonical SPDI:: NC_000003.12:155144398:A:T
Gene:: MME (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.155144399A>T, NC_000003.11:g.154862188A>T, NG_051105.1:g.125276A>T, NM_000902.5:c.1358A>T, NM_000902.4:c.1358A>T, NM_000902.3:c.1358A>T, NM_007289.4:c.1358A>T, NM_007289.3:c.1358A>T, NM_007289.2:c.1358A>T, NM_007287.4:c.1358A>T, NM_007287.3:c.1358A>T, NM_007287.2:c.1358A>T, NM_007288.3:c.1358A>T, NM_007288.2:c.1358A>T, NM_001354642.2:c.1358A>T, NM_001354642.1:c.1358A>T, NM_001354643.1:c.1358A>T, XM_006713647.5:c.1358A>T, XM_006713647.4:c.1358A>T, XM_006713647.3:c.1358A>T, XM_006713647.2:c.1358A>T, XM_006713647.1:c.1358A>T, XM_011512857.3:c.1358A>T, XM_011512857.2:c.1358A>T, XM_011512857.1:c.1358A>T, XM_011512856.3:c.1358A>T, XM_011512856.2:c.1358A>T, XM_011512856.1:c.1358A>T, XM_047448157.1:c.1358A>T, NP_000893.2:p.Gln453Leu, NP_009220.2:p.Gln453Leu, NP_009218.2:p.Gln453Leu, NP_009219.2:p.Gln453Leu, NP_001341571.1:p.Gln453Leu, NP_001341572.1:p.Gln453Leu, XP_006713710.1:p.Gln453Leu, XP_011511159.1:p.Gln453Leu, XP_011511158.1:p.Gln453Leu, XP_047304113.1:p.Gln453Leu

Select item 145948159020.

rs1459481590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:155148581 (GRCh38)
3:154866370 (GRCh37)
Canonical SPDI:: NC_000003.12:155148580:A:G
Gene:: MME (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.155148581A>G, NC_000003.11:g.154866370A>G, NG_051105.1:g.129458A>G, NM_000902.5:c.1529A>G, NM_000902.4:c.1529A>G, NM_000902.3:c.1529A>G, NM_007289.4:c.1529A>G, NM_007289.3:c.1529A>G, NM_007289.2:c.1529A>G, NM_007287.4:c.1529A>G, NM_007287.3:c.1529A>G, NM_007287.2:c.1529A>G, NM_007288.3:c.1529A>G, NM_007288.2:c.1529A>G, NM_001354642.2:c.1529A>G, NM_001354642.1:c.1529A>G, NM_001354643.1:c.1529A>G, XM_006713647.5:c.1529A>G, XM_006713647.4:c.1529A>G, XM_006713647.3:c.1529A>G, XM_006713647.2:c.1529A>G, XM_006713647.1:c.1529A>G, XM_011512857.3:c.1529A>G, XM_011512857.2:c.1529A>G, XM_011512857.1:c.1529A>G, XM_011512856.3:c.1529A>G, XM_011512856.2:c.1529A>G, XM_011512856.1:c.1529A>G, XM_047448157.1:c.1529A>G, NP_000893.2:p.Asn510Ser, NP_009220.2:p.Asn510Ser, NP_009218.2:p.Asn510Ser, NP_009219.2:p.Asn510Ser, NP_001341571.1:p.Asn510Ser, NP_001341572.1:p.Asn510Ser, XP_006713710.1:p.Asn510Ser, XP_011511159.1:p.Asn510Ser, XP_011511158.1:p.Asn510Ser, XP_047304113.1:p.Asn510Ser

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