Linked Data
ClinVar Variation Id:
30236
dbSNP Id:
rs201253919
ExAC:
1:52849109 G / A
gnomAD v2:
1-52849109-G-A
gnomAD v3:
1-52383437-G-A
gnomAD v4:
1-52383437-G-A
PubMed:
PMID:21358631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52383437G>A , CM000663.2:g.52383437G>A | GRCh38 |
| NC_000001.10:g.52849109G>A , CM000663.1:g.52849109G>A | GRCh37 |
| NC_000001.9:g.52621697G>A | NCBI36 |
| NG_028251.1:g.26035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371568.8:c.1996C>T MANE Select | ENSP00000360623.3:p.Arg666Trp | |
| ENST00000371566.1:c.1996C>T | ENSP00000360621.1:p.Arg666Trp | |
| ENST00000371568.7:c.1996C>T | ENSP00000360623.3:p.Arg666Trp | |
| NM_001190818.1:c.1996C>T | NP_001177747.1:p.Arg666Trp | |
| NM_001190819.1:c.1981C>T | NP_001177748.1:p.Arg661Trp | |
| NM_004153.3:c.1996C>T | NP_004144.2:p.Arg666Trp | |
| XM_011541527.1:c.916C>T | XP_011539829.1:p.Arg306Trp | |
| XM_011541527.3:c.916C>T | XP_011539829.1:p.Arg306Trp | |
| XM_017001388.2:c.1888C>T | XP_016856877.1:p.Arg630Trp | |
| XM_017001389.2:c.1258C>T | XP_016856878.1:p.Arg420Trp | |
| NM_004153.4:c.1996C>T MANE Select | NP_004144.2:p.Arg666Trp | |
| NM_001190818.2:c.1996C>T | NP_001177747.1:p.Arg666Trp | |
| NM_001190819.2:c.1981C>T | NP_001177748.1:p.Arg661Trp |