Linked Data
ClinVar Variation Id:
2411869
ClinVar RCV Id:
RCV002779980
dbSNP Id:
rs200675509
ExAC:
19:49564630 G / A
gnomAD v2:
19-49564630-G-A
gnomAD v3:
19-49061373-G-A
gnomAD v4:
19-49061373-G-A
COSMIC:
COSM124873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49061373G>A , CM000681.2:g.49061373G>A | GRCh38 |
| NC_000019.9:g.49564630G>A , CM000681.1:g.49564630G>A | GRCh37 |
| NC_000019.8:g.54256442G>A | NCBI36 |
| NG_016289.1:g.7495C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593537.2:c.625C>T MANE Select | ENSP00000469455.1:p.Arg209Trp | |
| ENST00000594938.2:c.625C>T | ENSP00000512387.1:p.Arg209Trp | |
| ENST00000595857.6:c.625C>T | ENSP00000471508.2:p.Arg209Trp | |
| ENST00000696088.1:c.625C>T | ENSP00000512384.1:p.Arg209Trp | |
| ENST00000696089.1:c.625C>T | ENSP00000512385.1:p.Arg209Trp | |
| ENST00000696090.1:c.625C>T | ENSP00000512386.1:p.Arg209Trp | |
| ENST00000696091.1:c.625C>T | ENSP00000512388.1:p.Arg209Trp | |
| ENST00000593537.1:c.625C>T | ENSP00000469455.1:p.Arg209Trp | |
| ENST00000599795.5:c.243+382C>T | ENSP00000470689.1:n.243+382C>T | |
| NM_006179.4:c.625C>T | NP_006170.1:p.Arg209Trp | |
| XM_005258962.2:c.625C>T | XP_005259019.1:p.Arg209Trp | |
| XM_006723232.2:c.625C>T | XP_006723295.1:p.Arg209Trp | |
| XM_011527008.1:c.655C>T | XP_011525310.1:p.Arg219Trp | |
| XM_011527009.1:c.625C>T | XP_011525311.1:p.Arg209Trp | |
| XM_011527010.1:c.625C>T | XP_011525312.1:p.Arg209Trp | |
| XM_005258962.3:c.625C>T | XP_005259019.1:p.Arg209Trp | |
| XM_006723232.3:c.625C>T | XP_006723295.1:p.Arg209Trp | |
| XM_011527008.2:c.655C>T | XP_011525310.1:p.Arg219Trp | |
| XM_011527009.2:c.625C>T | XP_011525311.1:p.Arg209Trp | |
| XM_011527010.2:c.625C>T | XP_011525312.1:p.Arg209Trp | |
| XR_001753693.1:n.670C>T | ||
| XR_001753694.1:n.670C>T | ||
| NM_001395489.1:c.625C>T | NP_001382418.1:p.Arg209Trp | |
| NM_006179.5:c.625C>T MANE Select | NP_006170.1:p.Arg209Trp |