Linked Data
ClinVar Variation Id:
139587
ClinVar RCV Id:
RCV000128528
dbSNP Id:
rs587777497
gnomAD v4:
7-45713747-C-T
COSMIC:
COSM3881344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45713747C>T , CM000669.2:g.45713747C>T | GRCh38 |
| NC_000007.13:g.45753346C>T , CM000669.1:g.45753346C>T | GRCh37 |
| NC_000007.12:g.45719871C>T | NCBI36 |
| NG_034198.1:g.144608C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297323.12:c.3112C>T MANE Select | ENSP00000297323.7:p.Arg1038Ter | |
| ENST00000297323.11:c.3112C>T | ENSP00000297323.7:p.Arg1038Ter | |
| NM_021116.2:c.3112C>T | NP_066939.1:p.Arg1038Ter | |
| XM_005249584.2:c.*47C>T | XP_005249641.1:n.*47C>T | |
| NM_021116.3:c.3112C>T | NP_066939.1:p.Arg1038Ter | |
| XM_005249584.3:c.*47C>T | XP_005249641.1:n.*47C>T | |
| NM_021116.4:c.3112C>T MANE Select | NP_066939.1:p.Arg1038Ter |