SNP Links for Protein (Select 1279652539) - SNP

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Links from Protein

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Select item 14889949531.

rs1488994953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:84001028 (GRCh38)
9:86615943 (GRCh37)
Canonical SPDI:: NC_000009.12:84001027:T:A
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84001028T>A, NC_000009.11:g.86615943T>A, NM_024945.3:c.42T>A, NM_024945.2:c.42T>A, XM_017015140.2:c.42T>A, XM_017015140.1:c.42T>A, NM_001358292.2:c.42T>A, NM_001358292.1:c.42T>A, NM_001358294.2:c.42T>A, NM_001358294.1:c.42T>A, NM_001358293.2:c.42T>A, NM_001358293.1:c.42T>A, NM_001358291.2:c.42T>A, NM_001358291.1:c.42T>A

Select item 14878202852.

rs1487820285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:84001825 (GRCh38)
9:86616740 (GRCh37)
Canonical SPDI:: NC_000009.12:84001824:C:T
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84001825C>T, NC_000009.11:g.86616740C>T, NM_024945.3:c.839C>T, NM_024945.2:c.839C>T, XM_017015140.2:c.839C>T, XM_017015140.1:c.839C>T, NM_001358292.2:c.839C>T, NM_001358292.1:c.839C>T, NM_001358294.2:c.839C>T, NM_001358294.1:c.839C>T, NM_001358293.2:c.839C>T, NM_001358293.1:c.839C>T, NM_001358291.2:c.839C>T, NM_001358291.1:c.839C>T, NP_079221.2:p.Thr280Ile, XP_016870629.1:p.Thr280Ile, NP_001345221.1:p.Thr280Ile, NP_001345223.1:p.Thr280Ile, NP_001345222.1:p.Thr280Ile, NP_001345220.1:p.Thr280Ile

Select item 14871714273.

rs1487171427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:84001383 (GRCh38)
9:86616298 (GRCh37)
Canonical SPDI:: NC_000009.12:84001382:C:A,NC_000009.12:84001382:C:T
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84001383C>A, NC_000009.12:g.84001383C>T, NC_000009.11:g.86616298C>A, NC_000009.11:g.86616298C>T, NM_024945.3:c.397C>A, NM_024945.3:c.397C>T, NM_024945.2:c.397C>A, NM_024945.2:c.397C>T, XM_017015140.2:c.397C>A, XM_017015140.2:c.397C>T, XM_017015140.1:c.397C>A, XM_017015140.1:c.397C>T, NM_001358292.2:c.397C>A, NM_001358292.2:c.397C>T, NM_001358292.1:c.397C>A, NM_001358292.1:c.397C>T, NM_001358294.2:c.397C>A, NM_001358294.2:c.397C>T, NM_001358294.1:c.397C>A, NM_001358294.1:c.397C>T, NM_001358293.2:c.397C>A, NM_001358293.2:c.397C>T, NM_001358293.1:c.397C>A, NM_001358293.1:c.397C>T, NM_001358291.2:c.397C>A, NM_001358291.2:c.397C>T, NM_001358291.1:c.397C>A, NM_001358291.1:c.397C>T, NP_079221.2:p.Arg133Ter, XP_016870629.1:p.Arg133Ter, NP_001345221.1:p.Arg133Ter, NP_001345223.1:p.Arg133Ter, NP_001345222.1:p.Arg133Ter, NP_001345220.1:p.Arg133Ter

Select item 14845871414.

rs1484587141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:84001105 (GRCh38)
9:86616020 (GRCh37)
Canonical SPDI:: NC_000009.12:84001104:A:C
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000113/4 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.84001105A>C, NC_000009.11:g.86616020A>C, NM_024945.3:c.119A>C, NM_024945.2:c.119A>C, XM_017015140.2:c.119A>C, XM_017015140.1:c.119A>C, NM_001358292.2:c.119A>C, NM_001358292.1:c.119A>C, NM_001358294.2:c.119A>C, NM_001358294.1:c.119A>C, NM_001358293.2:c.119A>C, NM_001358293.1:c.119A>C, NM_001358291.2:c.119A>C, NM_001358291.1:c.119A>C, NP_079221.2:p.Asn40Thr, XP_016870629.1:p.Asn40Thr, NP_001345221.1:p.Asn40Thr, NP_001345223.1:p.Asn40Thr, NP_001345222.1:p.Asn40Thr, NP_001345220.1:p.Asn40Thr

Select item 14843982485.

rs1484398248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:84002757 (GRCh38)
9:86617672 (GRCh37)
Canonical SPDI:: NC_000009.12:84002756:C:G
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84002757C>G, NC_000009.11:g.86617672C>G, NM_024945.3:c.1771C>G, NM_024945.2:c.1771C>G, XM_017015140.2:c.1771C>G, XM_017015140.1:c.1771C>G, NM_001358292.2:c.1771C>G, NM_001358292.1:c.1771C>G, NM_001358294.2:c.1771C>G, NM_001358294.1:c.1771C>G, NM_001358293.2:c.1771C>G, NM_001358293.1:c.1771C>G, NM_001358291.2:c.1771C>G, NM_001358291.1:c.1771C>G, NP_079221.2:p.Leu591Val, XP_016870629.1:p.Leu591Val, NP_001345221.1:p.Leu591Val, NP_001345223.1:p.Leu591Val, NP_001345222.1:p.Leu591Val, NP_001345220.1:p.Leu591Val

Select item 14833590066.

rs1483359006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:84001570 (GRCh38)
9:86616485 (GRCh37)
Canonical SPDI:: NC_000009.12:84001569:A:C
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.84001570A>C, NC_000009.11:g.86616485A>C, NM_024945.3:c.584A>C, NM_024945.2:c.584A>C, XM_017015140.2:c.584A>C, XM_017015140.1:c.584A>C, NM_001358292.2:c.584A>C, NM_001358292.1:c.584A>C, NM_001358294.2:c.584A>C, NM_001358294.1:c.584A>C, NM_001358293.2:c.584A>C, NM_001358293.1:c.584A>C, NM_001358291.2:c.584A>C, NM_001358291.1:c.584A>C, NP_079221.2:p.Asp195Ala, XP_016870629.1:p.Asp195Ala, NP_001345221.1:p.Asp195Ala, NP_001345223.1:p.Asp195Ala, NP_001345222.1:p.Asp195Ala, NP_001345220.1:p.Asp195Ala

Select item 14828130837.

rs1482813083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:84002617 (GRCh38)
9:86617532 (GRCh37)
Canonical SPDI:: NC_000009.12:84002616:A:G
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84002617A>G, NC_000009.11:g.86617532A>G, NM_024945.3:c.1631A>G, NM_024945.2:c.1631A>G, XM_017015140.2:c.1631A>G, XM_017015140.1:c.1631A>G, NM_001358292.2:c.1631A>G, NM_001358292.1:c.1631A>G, NM_001358294.2:c.1631A>G, NM_001358294.1:c.1631A>G, NM_001358293.2:c.1631A>G, NM_001358293.1:c.1631A>G, NM_001358291.2:c.1631A>G, NM_001358291.1:c.1631A>G, NP_079221.2:p.Asp544Gly, XP_016870629.1:p.Asp544Gly, NP_001345221.1:p.Asp544Gly, NP_001345223.1:p.Asp544Gly, NP_001345222.1:p.Asp544Gly, NP_001345220.1:p.Asp544Gly

Select item 14788769608.

rs1478876960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:84002394 (GRCh38)
9:86617309 (GRCh37)
Canonical SPDI:: NC_000009.12:84002393:T:G
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84002394T>G, NC_000009.11:g.86617309T>G, NM_024945.3:c.1408T>G, NM_024945.2:c.1408T>G, XM_017015140.2:c.1408T>G, XM_017015140.1:c.1408T>G, NM_001358292.2:c.1408T>G, NM_001358292.1:c.1408T>G, NM_001358294.2:c.1408T>G, NM_001358294.1:c.1408T>G, NM_001358293.2:c.1408T>G, NM_001358293.1:c.1408T>G, NM_001358291.2:c.1408T>G, NM_001358291.1:c.1408T>G, NP_079221.2:p.Ser470Ala, XP_016870629.1:p.Ser470Ala, NP_001345221.1:p.Ser470Ala, NP_001345223.1:p.Ser470Ala, NP_001345222.1:p.Ser470Ala, NP_001345220.1:p.Ser470Ala

Select item 14785725019.

rs1478572501 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:84002109 (GRCh38)
9:86617025 (GRCh37)
Canonical SPDI:: NC_000009.12:84002109:AAAAAAA:AAAAAAAA
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84002116dup, NC_000009.11:g.86617031dup, NM_024945.3:c.1130dup, NM_024945.2:c.1130dup, XM_017015140.2:c.1130dup, XM_017015140.1:c.1130dup, NM_001358292.2:c.1130dup, NM_001358292.1:c.1130dup, NM_001358294.2:c.1130dup, NM_001358294.1:c.1130dup, NM_001358293.2:c.1130dup, NM_001358293.1:c.1130dup, NM_001358291.2:c.1130dup, NM_001358291.1:c.1130dup, NP_079221.2:p.Asn377fs, XP_016870629.1:p.Asn377fs, NP_001345221.1:p.Asn377fs, NP_001345223.1:p.Asn377fs, NP_001345222.1:p.Asn377fs, NP_001345220.1:p.Asn377fs

Select item 147729563210.

rs1477295632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:84001309 (GRCh38)
9:86616224 (GRCh37)
Canonical SPDI:: NC_000009.12:84001308:G:A,NC_000009.12:84001308:G:C
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.84001309G>A, NC_000009.12:g.84001309G>C, NC_000009.11:g.86616224G>A, NC_000009.11:g.86616224G>C, NM_024945.3:c.323G>A, NM_024945.3:c.323G>C, NM_024945.2:c.323G>A, NM_024945.2:c.323G>C, XM_017015140.2:c.323G>A, XM_017015140.2:c.323G>C, XM_017015140.1:c.323G>A, XM_017015140.1:c.323G>C, NM_001358292.2:c.323G>A, NM_001358292.2:c.323G>C, NM_001358292.1:c.323G>A, NM_001358292.1:c.323G>C, NM_001358294.2:c.323G>A, NM_001358294.2:c.323G>C, NM_001358294.1:c.323G>A, NM_001358294.1:c.323G>C, NM_001358293.2:c.323G>A, NM_001358293.2:c.323G>C, NM_001358293.1:c.323G>A, NM_001358293.1:c.323G>C, NM_001358291.2:c.323G>A, NM_001358291.2:c.323G>C, NM_001358291.1:c.323G>A, NM_001358291.1:c.323G>C, NP_079221.2:p.Gly108Glu, NP_079221.2:p.Gly108Ala, XP_016870629.1:p.Gly108Glu, XP_016870629.1:p.Gly108Ala, NP_001345221.1:p.Gly108Glu, NP_001345221.1:p.Gly108Ala, NP_001345223.1:p.Gly108Glu, NP_001345223.1:p.Gly108Ala, NP_001345222.1:p.Gly108Glu, NP_001345222.1:p.Gly108Ala, NP_001345220.1:p.Gly108Glu, NP_001345220.1:p.Gly108Ala

Select item 147458802811.

rs1474588028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:84002722 (GRCh38)
9:86617637 (GRCh37)
Canonical SPDI:: NC_000009.12:84002721:A:C
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.84002722A>C, NC_000009.11:g.86617637A>C, NM_024945.3:c.1736A>C, NM_024945.2:c.1736A>C, XM_017015140.2:c.1736A>C, XM_017015140.1:c.1736A>C, NM_001358292.2:c.1736A>C, NM_001358292.1:c.1736A>C, NM_001358294.2:c.1736A>C, NM_001358294.1:c.1736A>C, NM_001358293.2:c.1736A>C, NM_001358293.1:c.1736A>C, NM_001358291.2:c.1736A>C, NM_001358291.1:c.1736A>C, NP_079221.2:p.Gln579Pro, XP_016870629.1:p.Gln579Pro, NP_001345221.1:p.Gln579Pro, NP_001345223.1:p.Gln579Pro, NP_001345222.1:p.Gln579Pro, NP_001345220.1:p.Gln579Pro

Select item 147435780112.

rs1474357801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:84001133 (GRCh38)
9:86616048 (GRCh37)
Canonical SPDI:: NC_000009.12:84001132:T:G
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.84001133T>G, NC_000009.11:g.86616048T>G, NM_024945.3:c.147T>G, NM_024945.2:c.147T>G, XM_017015140.2:c.147T>G, XM_017015140.1:c.147T>G, NM_001358292.2:c.147T>G, NM_001358292.1:c.147T>G, NM_001358294.2:c.147T>G, NM_001358294.1:c.147T>G, NM_001358293.2:c.147T>G, NM_001358293.1:c.147T>G, NM_001358291.2:c.147T>G, NM_001358291.1:c.147T>G, NP_079221.2:p.Asn49Lys, XP_016870629.1:p.Asn49Lys, NP_001345221.1:p.Asn49Lys, NP_001345223.1:p.Asn49Lys, NP_001345222.1:p.Asn49Lys, NP_001345220.1:p.Asn49Lys

Select item 147331975213.

rs1473319752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:84002138 (GRCh38)
9:86617053 (GRCh37)
Canonical SPDI:: NC_000009.12:84002137:T:C
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.84002138T>C, NC_000009.11:g.86617053T>C, NM_024945.3:c.1152T>C, NM_024945.2:c.1152T>C, XM_017015140.2:c.1152T>C, XM_017015140.1:c.1152T>C, NM_001358292.2:c.1152T>C, NM_001358292.1:c.1152T>C, NM_001358294.2:c.1152T>C, NM_001358294.1:c.1152T>C, NM_001358293.2:c.1152T>C, NM_001358293.1:c.1152T>C, NM_001358291.2:c.1152T>C, NM_001358291.1:c.1152T>C

Select item 147233744814.

rs1472337448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:84002776 (GRCh38)
9:86617691 (GRCh37)
Canonical SPDI:: NC_000009.12:84002775:A:G
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84002776A>G, NC_000009.11:g.86617691A>G, NM_024945.3:c.1790A>G, NM_024945.2:c.1790A>G, XM_017015140.2:c.1790A>G, XM_017015140.1:c.1790A>G, NM_001358292.2:c.1790A>G, NM_001358292.1:c.1790A>G, NM_001358294.2:c.1790A>G, NM_001358294.1:c.1790A>G, NM_001358293.2:c.1790A>G, NM_001358293.1:c.1790A>G, NM_001358291.2:c.1790A>G, NM_001358291.1:c.1790A>G, NP_079221.2:p.Asn597Ser, XP_016870629.1:p.Asn597Ser, NP_001345221.1:p.Asn597Ser, NP_001345223.1:p.Asn597Ser, NP_001345222.1:p.Asn597Ser, NP_001345220.1:p.Asn597Ser

Select item 147229850415.

rs1472298504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:84001474 (GRCh38)
9:86616389 (GRCh37)
Canonical SPDI:: NC_000009.12:84001473:C:A
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.84001474C>A, NC_000009.11:g.86616389C>A, NM_024945.3:c.488C>A, NM_024945.2:c.488C>A, XM_017015140.2:c.488C>A, XM_017015140.1:c.488C>A, NM_001358292.2:c.488C>A, NM_001358292.1:c.488C>A, NM_001358294.2:c.488C>A, NM_001358294.1:c.488C>A, NM_001358293.2:c.488C>A, NM_001358293.1:c.488C>A, NM_001358291.2:c.488C>A, NM_001358291.1:c.488C>A, NP_079221.2:p.Pro163Gln, XP_016870629.1:p.Pro163Gln, NP_001345221.1:p.Pro163Gln, NP_001345223.1:p.Pro163Gln, NP_001345222.1:p.Pro163Gln, NP_001345220.1:p.Pro163Gln

Select item 147216294616.

rs1472162946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:84002293 (GRCh38)
9:86617208 (GRCh37)
Canonical SPDI:: NC_000009.12:84002292:A:G
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84002293A>G, NC_000009.11:g.86617208A>G, NM_024945.3:c.1307A>G, NM_024945.2:c.1307A>G, XM_017015140.2:c.1307A>G, XM_017015140.1:c.1307A>G, NM_001358292.2:c.1307A>G, NM_001358292.1:c.1307A>G, NM_001358294.2:c.1307A>G, NM_001358294.1:c.1307A>G, NM_001358293.2:c.1307A>G, NM_001358293.1:c.1307A>G, NM_001358291.2:c.1307A>G, NM_001358291.1:c.1307A>G, NP_079221.2:p.His436Arg, XP_016870629.1:p.His436Arg, NP_001345221.1:p.His436Arg, NP_001345223.1:p.His436Arg, NP_001345222.1:p.His436Arg, NP_001345220.1:p.His436Arg

Select item 146925233317.

rs1469252333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:84002181 (GRCh38)
9:86617096 (GRCh37)
Canonical SPDI:: NC_000009.12:84002180:A:G
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.84002181A>G, NC_000009.11:g.86617096A>G, NM_024945.3:c.1195A>G, NM_024945.2:c.1195A>G, XM_017015140.2:c.1195A>G, XM_017015140.1:c.1195A>G, NM_001358292.2:c.1195A>G, NM_001358292.1:c.1195A>G, NM_001358294.2:c.1195A>G, NM_001358294.1:c.1195A>G, NM_001358293.2:c.1195A>G, NM_001358293.1:c.1195A>G, NM_001358291.2:c.1195A>G, NM_001358291.1:c.1195A>G, NP_079221.2:p.Arg399Gly, XP_016870629.1:p.Arg399Gly, NP_001345221.1:p.Arg399Gly, NP_001345223.1:p.Arg399Gly, NP_001345222.1:p.Arg399Gly, NP_001345220.1:p.Arg399Gly

Select item 146051347318.

rs1460513473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:84002495 (GRCh38)
9:86617410 (GRCh37)
Canonical SPDI:: NC_000009.12:84002494:G:A
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.84002495G>A, NC_000009.11:g.86617410G>A, NM_024945.3:c.1509G>A, NM_024945.2:c.1509G>A, XM_017015140.2:c.1509G>A, XM_017015140.1:c.1509G>A, NM_001358292.2:c.1509G>A, NM_001358292.1:c.1509G>A, NM_001358294.2:c.1509G>A, NM_001358294.1:c.1509G>A, NM_001358293.2:c.1509G>A, NM_001358293.1:c.1509G>A, NM_001358291.2:c.1509G>A, NM_001358291.1:c.1509G>A

Select item 145986401019.

rs1459864010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:84002587 (GRCh38)
9:86617502 (GRCh37)
Canonical SPDI:: NC_000009.12:84002586:T:A
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84002587T>A, NC_000009.11:g.86617502T>A, NM_024945.3:c.1601T>A, NM_024945.2:c.1601T>A, XM_017015140.2:c.1601T>A, XM_017015140.1:c.1601T>A, NM_001358292.2:c.1601T>A, NM_001358292.1:c.1601T>A, NM_001358294.2:c.1601T>A, NM_001358294.1:c.1601T>A, NM_001358293.2:c.1601T>A, NM_001358293.1:c.1601T>A, NM_001358291.2:c.1601T>A, NM_001358291.1:c.1601T>A, NP_079221.2:p.Val534Glu, XP_016870629.1:p.Val534Glu, NP_001345221.1:p.Val534Glu, NP_001345223.1:p.Val534Glu, NP_001345222.1:p.Val534Glu, NP_001345220.1:p.Val534Glu

Select item 145870267320.

rs1458702673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:84001000 (GRCh38)
9:86615915 (GRCh37)
Canonical SPDI:: NC_000009.12:84000999:G:A
Gene:: RMI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84001000G>A, NC_000009.11:g.86615915G>A, NM_024945.3:c.14G>A, NM_024945.2:c.14G>A, XM_017015140.2:c.14G>A, XM_017015140.1:c.14G>A, NM_001358292.2:c.14G>A, NM_001358292.1:c.14G>A, NM_001358294.2:c.14G>A, NM_001358294.1:c.14G>A, NM_001358293.2:c.14G>A, NM_001358293.1:c.14G>A, NM_001358291.2:c.14G>A, NM_001358291.1:c.14G>A, NP_079221.2:p.Ser5Asn, XP_016870629.1:p.Ser5Asn, NP_001345221.1:p.Ser5Asn, NP_001345223.1:p.Ser5Asn, NP_001345222.1:p.Ser5Asn, NP_001345220.1:p.Ser5Asn

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