Linked Data
ClinVar Variation Id:
14372
ClinVar RCV Id:
RCV000015449
dbSNP Id:
rs121913553
PubMed:
PMID:9617436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11970750G>C , CM000663.2:g.11970750G>C | GRCh38 |
| NC_000001.10:g.12030807G>C , CM000663.1:g.12030807G>C | GRCh37 |
| NC_000001.9:g.11953394G>C | NCBI36 |
| NG_008159.1:g.41062G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000196061.5:c.1836G>C MANE Select | ENSP00000196061.4:p.Trp612Cys | |
| ENST00000196061.4:c.1836G>C | ENSP00000196061.4:p.Trp612Cys | |
| ENST00000491536.5:n.383+3659G>C | ||
| NM_000302.3:c.1836G>C | NP_000293.2:p.Trp612Cys | |
| NM_001316320.1:c.1977G>C | NP_001303249.1:p.Trp659Cys | |
| XM_011541594.1:c.1917G>C | XP_011539896.1:p.Trp639Cys | |
| XM_024447707.1:c.1170G>C | XP_024303475.1:p.Trp390Cys | |
| NM_000302.4:c.1836G>C MANE Select | NP_000293.2:p.Trp612Cys | |
| NM_001316320.2:c.1977G>C | NP_001303249.1:p.Trp659Cys |