SNP Links for Protein (Select 1021311919) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 326

<< First< Prev

Page of 17

Next >Last >>

Select item 14866893251.

rs1486689325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37483381 (GRCh38)
1:37948982 (GRCh37)
Canonical SPDI:: NC_000001.11:37483380:C:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37483381C>T, NC_000001.10:g.37948982C>T, XM_011542198.3:c.*465C>T, XM_011542198.2:c.*465C>T, NM_025079.3:c.1570C>T, NM_025079.2:c.1570C>T, NM_001323551.2:c.748C>T, NM_001323551.1:c.748C>T, NM_001323550.2:c.1570C>T, NM_001323550.1:c.1570C>T, XM_047430884.1:c.1213C>T, XM_047430885.1:c.*465C>T, NP_079355.2:p.Pro524Ser, NP_001310480.1:p.Pro250Ser, NP_001310479.1:p.Pro524Ser, XP_047286840.1:p.Pro405Ser

Select item 14847415972.

rs1484741597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:37482744 (GRCh38)
1:37948345 (GRCh37)
Canonical SPDI:: NC_000001.11:37482743:A:G
Gene:: ZC3H12A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37482744A>G, NC_000001.10:g.37948345A>G, XM_011542198.3:c.1013A>G, XM_011542198.2:c.1013A>G, XM_011542198.1:c.1013A>G, NM_025079.3:c.933A>G, NM_025079.2:c.933A>G, NM_001323551.2:c.111A>G, NM_001323551.1:c.111A>G, NM_001323550.2:c.933A>G, NM_001323550.1:c.933A>G, XM_047430884.1:c.576A>G, XM_047430885.1:c.1013A>G, XP_011540500.1:p.Asn338Ser, XP_047286841.1:p.Asn338Ser

Select item 14843714603.

rs1484371460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:37483167 (GRCh38)
1:37948768 (GRCh37)
Canonical SPDI:: NC_000001.11:37483166:G:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.37483167G>T, NC_000001.10:g.37948768G>T, XM_011542198.3:c.*251G>T, XM_011542198.2:c.*251G>T, XM_011542198.1:c.*251G>T, NM_025079.3:c.1356G>T, NM_025079.2:c.1356G>T, NM_001323551.2:c.534G>T, NM_001323551.1:c.534G>T, NM_001323550.2:c.1356G>T, NM_001323550.1:c.1356G>T, XM_047430884.1:c.999G>T, XM_047430885.1:c.*251G>T

Select item 14843486934.

rs1484348693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:37482518 (GRCh38)
1:37948119 (GRCh37)
Canonical SPDI:: NC_000001.11:37482517:C:G,NC_000001.11:37482517:C:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37482518C>G, NC_000001.11:g.37482518C>T, NC_000001.10:g.37948119C>G, NC_000001.10:g.37948119C>T, XM_011542198.3:c.983C>G, XM_011542198.3:c.983C>T, XM_011542198.2:c.983C>G, XM_011542198.2:c.983C>T, XM_011542198.1:c.983C>G, XM_011542198.1:c.983C>T, NM_025079.3:c.903C>G, NM_025079.3:c.903C>T, NM_025079.2:c.903C>G, NM_025079.2:c.903C>T, NM_001323551.2:c.81C>G, NM_001323551.2:c.81C>T, NM_001323551.1:c.81C>G, NM_001323551.1:c.81C>T, NM_001323550.2:c.903C>G, NM_001323550.2:c.903C>T, NM_001323550.1:c.903C>G, NM_001323550.1:c.903C>T, XM_047430884.1:c.546C>G, XM_047430884.1:c.546C>T, XM_047430885.1:c.983C>G, XM_047430885.1:c.983C>T, XM_047430886.1:c.*135C>G, XM_047430886.1:c.*135C>T, XP_011540500.1:p.Thr328Arg, XP_011540500.1:p.Thr328Ile, NP_079355.2:p.His301Gln, NP_001310480.1:p.His27Gln, NP_001310479.1:p.His301Gln, XP_047286840.1:p.His182Gln, XP_047286841.1:p.Thr328Arg, XP_047286841.1:p.Thr328Ile

Select item 14753999935.

rs1475399993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:37483012 (GRCh38)
1:37948613 (GRCh37)
Canonical SPDI:: NC_000001.11:37483011:T:C
Gene:: ZC3H12A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37483012T>C, NC_000001.10:g.37948613T>C, XM_011542198.3:c.*96T>C, XM_011542198.2:c.*96T>C, XM_011542198.1:c.*96T>C, NM_025079.3:c.1201T>C, NM_025079.2:c.1201T>C, NM_001323551.2:c.379T>C, NM_001323551.1:c.379T>C, NM_001323550.2:c.1201T>C, NM_001323550.1:c.1201T>C, XM_047430884.1:c.844T>C, XM_047430885.1:c.*96T>C, NP_079355.2:p.Ser401Pro, NP_001310480.1:p.Ser127Pro, NP_001310479.1:p.Ser401Pro, XP_047286840.1:p.Ser282Pro

Select item 14750224186.

rs1475022418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:37483394 (GRCh38)
1:37948995 (GRCh37)
Canonical SPDI:: NC_000001.11:37483393:T:C
Gene:: ZC3H12A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37483394T>C, NC_000001.10:g.37948995T>C, XM_011542198.3:c.*478T>C, XM_011542198.2:c.*478T>C, NM_025079.3:c.1583T>C, NM_025079.2:c.1583T>C, NM_001323551.2:c.761T>C, NM_001323551.1:c.761T>C, NM_001323550.2:c.1583T>C, NM_001323550.1:c.1583T>C, XM_047430884.1:c.1226T>C, XM_047430885.1:c.*478T>C, NP_079355.2:p.Leu528Pro, NP_001310480.1:p.Leu254Pro, NP_001310479.1:p.Leu528Pro, XP_047286840.1:p.Leu409Pro

Select item 14748391967.

rs1474839196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37482765 (GRCh38)
1:37948366 (GRCh37)
Canonical SPDI:: NC_000001.11:37482764:C:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
T=0.0005/1 (Korea1K)
HGVS:: NC_000001.11:g.37482765C>T, NC_000001.10:g.37948366C>T, XM_011542198.3:c.1034C>T, XM_011542198.2:c.1034C>T, XM_011542198.1:c.1034C>T, NM_025079.3:c.954C>T, NM_025079.2:c.954C>T, NM_001323551.2:c.132C>T, NM_001323551.1:c.132C>T, NM_001323550.2:c.954C>T, NM_001323550.1:c.954C>T, XM_047430884.1:c.597C>T, XM_047430885.1:c.1034C>T, XP_011540500.1:p.Ala345Val, XP_047286841.1:p.Ala345Val

Select item 14736891368.

rs1473689136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37483217 (GRCh38)
1:37948818 (GRCh37)
Canonical SPDI:: NC_000001.11:37483216:C:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_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)
T=0.000016/4 (GnomAD_exomes)
T=0.000025/3 (ExAC)
HGVS:: NC_000001.11:g.37483217C>T, NC_000001.10:g.37948818C>T, XM_011542198.3:c.*301C>T, XM_011542198.2:c.*301C>T, XM_011542198.1:c.*301C>T, NM_025079.3:c.1406C>T, NM_025079.2:c.1406C>T, NM_001323551.2:c.584C>T, NM_001323551.1:c.584C>T, NM_001323550.2:c.1406C>T, NM_001323550.1:c.1406C>T, XM_047430884.1:c.1049C>T, XM_047430885.1:c.*301C>T, NP_079355.2:p.Thr469Met, NP_001310480.1:p.Thr195Met, NP_001310479.1:p.Thr469Met, XP_047286840.1:p.Thr350Met

Select item 14734110009.

rs1473411000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37483086 (GRCh38)
1:37948687 (GRCh37)
Canonical SPDI:: NC_000001.11:37483085:G:A
Gene:: ZC3H12A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37483086G>A, NC_000001.10:g.37948687G>A, XM_011542198.3:c.*170G>A, XM_011542198.2:c.*170G>A, XM_011542198.1:c.*170G>A, NM_025079.3:c.1275G>A, NM_025079.2:c.1275G>A, NM_001323551.2:c.453G>A, NM_001323551.1:c.453G>A, NM_001323550.2:c.1275G>A, NM_001323550.1:c.1275G>A, XM_047430884.1:c.918G>A, XM_047430885.1:c.*170G>A

Select item 147334059610.

rs1473340596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:37483529 (GRCh38)
1:37949130 (GRCh37)
Canonical SPDI:: NC_000001.11:37483528:T:C
Gene:: ZC3H12A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_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_000001.11:g.37483529T>C, NC_000001.10:g.37949130T>C, XM_011542198.3:c.*613T>C, XM_011542198.2:c.*613T>C, NM_025079.3:c.1718T>C, NM_025079.2:c.1718T>C, NM_001323551.2:c.896T>C, NM_001323551.1:c.896T>C, NM_001323550.2:c.1718T>C, NM_001323550.1:c.1718T>C, XM_047430884.1:c.1361T>C, XM_047430885.1:c.*613T>C, NP_079355.2:p.Met573Thr, NP_001310480.1:p.Met299Thr, NP_001310479.1:p.Met573Thr, XP_047286840.1:p.Met454Thr

Select item 147306458111.

rs1473064581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37482784 (GRCh38)
1:37948385 (GRCh37)
Canonical SPDI:: NC_000001.11:37482783:C:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37482784C>T, NC_000001.10:g.37948385C>T, XM_011542198.3:c.1053C>T, XM_011542198.2:c.1053C>T, XM_011542198.1:c.1053C>T, NM_025079.3:c.973C>T, NM_025079.2:c.973C>T, NM_001323551.2:c.151C>T, NM_001323551.1:c.151C>T, NM_001323550.2:c.973C>T, NM_001323550.1:c.973C>T, XM_047430884.1:c.616C>T, XM_047430885.1:c.1053C>T, NP_079355.2:p.Arg325Trp, NP_001310480.1:p.Arg51Trp, NP_001310479.1:p.Arg325Trp, XP_047286840.1:p.Arg206Trp

Select item 146784004312.

rs1467840043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37482798 (GRCh38)
1:37948399 (GRCh37)
Canonical SPDI:: NC_000001.11:37482797:C:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
HGVS:: NC_000001.11:g.37482798C>T, NC_000001.10:g.37948399C>T, XM_011542198.3:c.1067C>T, XM_011542198.2:c.1067C>T, XM_011542198.1:c.1067C>T, NM_025079.3:c.987C>T, NM_025079.2:c.987C>T, NM_001323551.2:c.165C>T, NM_001323551.1:c.165C>T, NM_001323550.2:c.987C>T, NM_001323550.1:c.987C>T, XM_047430884.1:c.630C>T, XM_047430885.1:c.1067C>T, XP_011540500.1:p.Pro356Leu, XP_047286841.1:p.Pro356Leu

Select item 146442697913.

rs1464426979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:37483520 (GRCh38)
1:37949121 (GRCh37)
Canonical SPDI:: NC_000001.11:37483519:A:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.37483520A>T, NC_000001.10:g.37949121A>T, XM_011542198.3:c.*604A>T, XM_011542198.2:c.*604A>T, NM_025079.3:c.1709A>T, NM_025079.2:c.1709A>T, NM_001323551.2:c.887A>T, NM_001323551.1:c.887A>T, NM_001323550.2:c.1709A>T, NM_001323550.1:c.1709A>T, XM_047430884.1:c.1352A>T, XM_047430885.1:c.*604A>T, NP_079355.2:p.Glu570Val, NP_001310480.1:p.Glu296Val, NP_001310479.1:p.Glu570Val, XP_047286840.1:p.Glu451Val

Select item 145952651814.

rs1459526518 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGC>- [Show Flanks]
Chromosome:: 1:37483036 (GRCh38)
1:37948637 (GRCh37)
Canonical SPDI:: NC_000001.11:37483033:GCGGGGGC:GC
Gene:: ZC3H12A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.37483036_37483041del, NC_000001.10:g.37948637_37948642del, XM_011542198.3:c.*120_*125del, XM_011542198.2:c.*120_*125del, XM_011542198.1:c.*120_*125del, NM_025079.3:c.1225_1230del, NM_025079.2:c.1225_1230del, NM_001323551.2:c.403_408del, NM_001323551.1:c.403_408del, NM_001323550.2:c.1225_1230del, NM_001323550.1:c.1225_1230del, XM_047430884.1:c.868_873del, XM_047430885.1:c.*120_*125del, NP_079355.2:p.Gly409_Gly410del, NP_001310480.1:p.Gly135_Gly136del, NP_001310479.1:p.Gly409_Gly410del, XP_047286840.1:p.Gly290_Gly291del

Select item 145130405015.

rs1451304050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37482766 (GRCh38)
1:37948367 (GRCh37)
Canonical SPDI:: NC_000001.11:37482765:C:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,stop_gained,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37482766C>T, NC_000001.10:g.37948367C>T, XM_011542198.3:c.1035C>T, XM_011542198.2:c.1035C>T, XM_011542198.1:c.1035C>T, NM_025079.3:c.955C>T, NM_025079.2:c.955C>T, NM_001323551.2:c.133C>T, NM_001323551.1:c.133C>T, NM_001323550.2:c.955C>T, NM_001323550.1:c.955C>T, XM_047430884.1:c.598C>T, XM_047430885.1:c.1035C>T, NP_079355.2:p.Arg319Ter, NP_001310480.1:p.Arg45Ter, NP_001310479.1:p.Arg319Ter, XP_047286840.1:p.Arg200Ter

Select item 144484375516.

rs1444843755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37482491 (GRCh38)
1:37948092 (GRCh37)
Canonical SPDI:: NC_000001.11:37482490:G:A
Gene:: ZC3H12A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.37482491G>A, NC_000001.10:g.37948092G>A, XM_011542198.3:c.956G>A, XM_011542198.2:c.956G>A, XM_011542198.1:c.956G>A, NM_025079.3:c.876G>A, NM_025079.2:c.876G>A, NM_001323551.2:c.54G>A, NM_001323551.1:c.54G>A, NM_001323550.2:c.876G>A, NM_001323550.1:c.876G>A, XM_047430884.1:c.519G>A, XM_047430885.1:c.956G>A, XM_047430886.1:c.*108G>A, XP_011540500.1:p.Cys319Tyr, XP_047286841.1:p.Cys319Tyr

Select item 144455741217.

rs1444557412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:37483299 (GRCh38)
1:37948900 (GRCh37)
Canonical SPDI:: NC_000001.11:37483298:C:G
Gene:: ZC3H12A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000001.11:g.37483299C>G, NC_000001.10:g.37948900C>G, XM_011542198.3:c.*383C>G, XM_011542198.2:c.*383C>G, XM_011542198.1:c.*383C>G, NM_025079.3:c.1488C>G, NM_025079.2:c.1488C>G, NM_001323551.2:c.666C>G, NM_001323551.1:c.666C>G, NM_001323550.2:c.1488C>G, NM_001323550.1:c.1488C>G, XM_047430884.1:c.1131C>G, XM_047430885.1:c.*383C>G, NP_079355.2:p.Phe496Leu, NP_001310480.1:p.Phe222Leu, NP_001310479.1:p.Phe496Leu, XP_047286840.1:p.Phe377Leu

Select item 144442848518.

rs1444428485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37482471 (GRCh38)
1:37948072 (GRCh37)
Canonical SPDI:: NC_000001.11:37482470:C:T
Gene:: ZC3H12A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.37482471C>T, NC_000001.10:g.37948072C>T, XM_011542198.3:c.936C>T, XM_011542198.2:c.936C>T, XM_011542198.1:c.936C>T, NM_025079.3:c.856C>T, NM_025079.2:c.856C>T, NM_001323551.2:c.34C>T, NM_001323551.1:c.34C>T, NM_001323550.2:c.856C>T, NM_001323550.1:c.856C>T, XM_047430884.1:c.499C>T, XM_047430885.1:c.936C>T, XM_047430886.1:c.*88C>T, NP_079355.2:p.Pro286Ser, NP_001310480.1:p.Pro12Ser, NP_001310479.1:p.Pro286Ser, XP_047286840.1:p.Pro167Ser

Select item 144071561019.

rs1440715610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:37483282 (GRCh38)
1:37948883 (GRCh37)
Canonical SPDI:: NC_000001.11:37483281:A:G
Gene:: ZC3H12A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37483282A>G, NC_000001.10:g.37948883A>G, XM_011542198.3:c.*366A>G, XM_011542198.2:c.*366A>G, XM_011542198.1:c.*366A>G, NM_025079.3:c.1471A>G, NM_025079.2:c.1471A>G, NM_001323551.2:c.649A>G, NM_001323551.1:c.649A>G, NM_001323550.2:c.1471A>G, NM_001323550.1:c.1471A>G, XM_047430884.1:c.1114A>G, XM_047430885.1:c.*366A>G, NP_079355.2:p.Met491Val, NP_001310480.1:p.Met217Val, NP_001310479.1:p.Met491Val, XP_047286840.1:p.Met372Val

Select item 143835753120.

rs1438357531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:37482967 (GRCh38)
1:37948568 (GRCh37)
Canonical SPDI:: NC_000001.11:37482966:T:C
Gene:: ZC3H12A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37482967T>C, NC_000001.10:g.37948568T>C, XM_011542198.3:c.*51T>C, XM_011542198.2:c.*51T>C, XM_011542198.1:c.*51T>C, NM_025079.3:c.1156T>C, NM_025079.2:c.1156T>C, NM_001323551.2:c.334T>C, NM_001323551.1:c.334T>C, NM_001323550.2:c.1156T>C, NM_001323550.1:c.1156T>C, XM_047430884.1:c.799T>C, XM_047430885.1:c.*51T>C, NP_079355.2:p.Ser386Pro, NP_001310480.1:p.Ser112Pro, NP_001310479.1:p.Ser386Pro, XP_047286840.1:p.Ser267Pro

<< First< Prev

Page of 17

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 1021311919) (326)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: