Linked Data
dbSNP Id:
rs747753310
ExAC:
1:155264421 G / A
gnomAD v2:
1-155264421-G-A
gnomAD v4:
1-155294630-G-A
COSMIC:
COSM5772461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294630G>A , CM000663.2:g.155294630G>A | GRCh38 |
| NC_000001.10:g.155264421G>A , CM000663.1:g.155264421G>A | GRCh37 |
| NC_000001.9:g.153531045G>A | NCBI36 |
| NG_011677.1:g.11805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.817C>T MANE Select | ENSP00000339933.4:p.Arg273Cys | |
| ENST00000342741.4:c.817C>T | ENSP00000339933.4:p.Arg273Cys | |
| ENST00000392414.7:c.724C>T | ENSP00000376214.3:p.Arg242Cys | |
| NM_000298.5:c.817C>T | NP_000289.1:p.Arg273Cys | |
| NM_181871.3:c.724C>T | NP_870986.1:p.Arg242Cys | |
| XM_005245266.3:c.976C>T | XP_005245323.1:p.Arg326Cys | |
| XM_006711386.2:c.625C>T | XP_006711449.1:p.Arg209Cys | |
| XM_011509639.1:c.976C>T | XP_011507941.1:p.Arg326Cys | |
| XM_011509640.1:c.625C>T | XP_011507942.1:p.Arg209Cys | |
| NM_000298.6:c.817C>T MANE Select | NP_000289.1:p.Arg273Cys | |
| XM_006711386.4:c.625C>T | XP_006711449.1:p.Arg209Cys | |
| XM_011509640.3:c.625C>T | XP_011507942.1:p.Arg209Cys | |
| XM_017001493.1:c.817C>T | XP_016856982.1:p.Arg273Cys | |
| NM_181871.4:c.724C>T | NP_870986.1:p.Arg242Cys |