Linked Data
ClinVar Variation Id:
379922
ClinVar RCV Id:
RCV000418450
dbSNP Id:
rs1057520787
PubMed:
PMID:27479843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3224900A>G , CM000668.2:g.3224900A>G | GRCh38 |
| NC_000006.11:g.3225134A>G , CM000668.1:g.3225134A>G | GRCh37 |
| NC_000006.10:g.3170133A>G | NCBI36 |
| NG_016715.1:g.7835T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259818.8:c.1189T>C MANE Select | ENSP00000259818.6:p.Trp397Arg | |
| ENST00000680070.1:n.2119T>C | ||
| ENST00000681707.1:n.2016T>C | ||
| ENST00000681757.1:n.1494T>C | ||
| ENST00000259818.7:c.1189T>C | ENSP00000259818.6:p.Trp397Arg | |
| ENST00000473006.1:n.1306T>C | ||
| NM_178012.4:c.1189T>C | NP_821080.1:p.Trp397Arg | |
| XM_011514571.1:c.973T>C | XP_011512873.1:p.Trp325Arg | |
| NM_178012.5:c.1189T>C MANE Select | NP_821080.1:p.Trp397Arg |