Linked Data
ClinVar Variation Id:
3417
dbSNP Id:
rs28942094
COSMIC:
COSM4143299
PubMed:
PMID:12920575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209801398G>A , CM000663.2:g.209801398G>A | GRCh38 |
| NC_000001.10:g.209974743G>A , CM000663.1:g.209974743G>A | GRCh37 |
| NC_000001.9:g.208041366G>A | NCBI36 |
| NG_007081.2:g.9737C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696133.1:c.16C>T | ENSP00000512426.1:p.Arg6Cys | |
| ENST00000696134.1:c.16C>T | ENSP00000512427.1:p.Arg6Cys | |
| ENST00000367021.8:c.16C>T MANE Select | ENSP00000355988.3:p.Arg6Cys | |
| ENST00000643798.1:c.16C>T | ENSP00000496669.1:p.Arg6Cys | |
| ENST00000367021.7:c.16C>T | ENSP00000355988.3:p.Arg6Cys | |
| ENST00000456314.1:c.16C>T | ENSP00000403855.1:p.Arg6Cys | |
| ENST00000542854.5:c.-112+4549C>T | ENSP00000440532.1:n.-112+4549C>T | |
| NM_001206696.1:c.-112+4549C>T | NP_001193625.1:n.-112+4549C>T | |
| NM_006147.3:c.16C>T | NP_006138.1:p.Arg6Cys | |
| NM_006147.4:c.16C>T MANE Select | NP_006138.1:p.Arg6Cys | |
| NM_001206696.2:c.-112+4549C>T | NP_001193625.1:n.-112+4549C>T |