Linked Data
ClinVar Variation Id:
1987004
ClinVar RCV Id:
RCV002770953
dbSNP Id:
rs1326606410
gnomAD v2:
1-120269474-G-T
gnomAD v4:
1-119726851-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726851G>T , CM000663.2:g.119726851G>T | GRCh38 |
| NC_000001.10:g.120269474G>T , CM000663.1:g.120269474G>T | GRCh37 |
| NC_000001.9:g.120070997G>T | NCBI36 |
| NG_009188.1:g.20056G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.357G>T | ENSP00000358417.5:p.Arg119Ser | |
| ENST00000462324.2:n.440G>T | ||
| ENST00000641023.2:c.357G>T MANE Select | ENSP00000493175.1:p.Arg119Ser | |
| ENST00000641074.1:c.357G>T | ENSP00000493446.1:p.Arg119Ser | |
| ENST00000641115.1:c.357G>T | ENSP00000493264.1:p.Arg119Ser | |
| ENST00000641213.1:c.*10G>T | ENSP00000493079.1:n.*10G>T | |
| ENST00000641247.1:c.*76G>T | ENSP00000492955.1:n.*76G>T | |
| ENST00000641272.1:c.291G>T | ENSP00000493432.1:p.Lys97Asn | |
| ENST00000641314.1:n.342G>T | ||
| ENST00000641371.1:c.271G>T | ENSP00000493305.1:p.Ala91Ser | |
| ENST00000641375.1:c.*193G>T | ENSP00000493089.1:n.*193G>T | |
| ENST00000641491.1:c.*10G>T | ENSP00000493187.1:n.*10G>T | |
| ENST00000641513.1:c.*101G>T | ENSP00000493398.1:n.*101G>T | |
| ENST00000641570.1:c.*76G>T | ENSP00000493213.1:n.*76G>T | |
| ENST00000641573.1:n.445G>T | ||
| ENST00000641587.1:c.*68G>T | ENSP00000493453.1:n.*68G>T | |
| ENST00000641597.1:c.357G>T | ENSP00000493382.1:p.Arg119Ser | |
| ENST00000641711.1:n.581G>T | ||
| ENST00000641756.1:c.*101G>T | ENSP00000493147.1:n.*101G>T | |
| ENST00000641811.1:c.113G>T | ||
| ENST00000641847.1:n.216G>T | ||
| ENST00000641891.1:c.*183G>T | ENSP00000493288.1:n.*183G>T | |
| ENST00000641927.1:n.297G>T | ||
| ENST00000641947.1:c.357G>T | ENSP00000492994.1:p.Arg119Ser | |
| ENST00000642021.1:n.479G>T | ||
| ENST00000642041.1:c.*396G>T | ENSP00000493415.1:n.*396G>T | |
| ENST00000369407.3:c.255G>T | ENSP00000358415.3:p.Arg85Ser | |
| ENST00000369409.8:c.357G>T | ENSP00000358417.4:p.Arg119Ser | |
| ENST00000462324.1:n.625G>T | ||
| ENST00000493622.5:n.546G>T | ||
| NM_006623.3:c.357G>T | NP_006614.2:p.Arg119Ser | |
| XM_011541226.1:c.579G>T | XP_011539528.1:p.Arg193Ser | |
| XM_011541227.1:c.501G>T | XP_011539529.1:p.Arg167Ser | |
| XM_011541228.1:c.468G>T | XP_011539530.1:p.Arg156Ser | |
| XM_011541229.1:c.294G>T | XP_011539531.1:p.Arg98Ser | |
| XM_011541230.1:c.72G>T | XP_011539532.1:p.Arg24Ser | |
| XM_011541231.1:c.63G>T | XP_011539533.1:p.Arg21Ser | |
| XM_011541226.2:c.579G>T | XP_011539528.1:p.Arg193Ser | |
| XM_011541227.2:c.501G>T | XP_011539529.1:p.Arg167Ser | |
| XM_011541228.2:c.468G>T | XP_011539530.1:p.Arg156Ser | |
| XM_011541231.2:c.63G>T | XP_011539533.1:p.Arg21Ser | |
| XM_024446338.1:c.468G>T | XP_024302106.1:p.Arg156Ser | |
| NM_006623.4:c.357G>T MANE Select | NP_006614.2:p.Arg119Ser |