Linked Data
ClinVar Variation Id:
1275774
ClinVar RCV Id:
RCV001682651
dbSNP Id:
rs1374628000
gnomAD v2:
6-31635673-T-G
gnomAD v4:
6-31667896-T-G
COSMIC:
COSM5710060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31667896T>G , CM000668.2:g.31667896T>G | GRCh38 |
| NC_000006.11:g.31635673T>G , CM000668.1:g.31635673T>G | GRCh37 |
| NC_000006.10:g.31743652T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375882.7:c.101T>G MANE Select | ENSP00000365042.3:p.Phe34Cys | |
| ENST00000465481.6:n.234T>G | ||
| ENST00000475875.2:n.1184T>G | ||
| ENST00000677388.1:c.158T>G | ENSP00000504290.1:p.Phe53Cys | |
| ENST00000677536.1:c.158T>G | ENSP00000502967.1:p.Phe53Cys | |
| ENST00000677758.1:c.158T>G | ENSP00000504242.1:p.Phe53Cys | |
| ENST00000375865.6:c.101T>G | ENSP00000365025.2:p.Phe34Cys | |
| ENST00000375866.2:c.101T>G | ENSP00000365026.2:p.Phe34Cys | |
| ENST00000375880.6:c.101T>G | ENSP00000365040.2:p.Phe34Cys | |
| ENST00000375882.6:c.101T>G | ENSP00000365042.2:p.Phe34Cys | |
| ENST00000375885.8:c.158T>G | ENSP00000365046.4:p.Phe53Cys | |
| ENST00000465481.5:n.234T>G | ||
| ENST00000468255.5:n.240T>G | ||
| ENST00000481269.1:n.227T>G | ||
| ENST00000617558.2:c.101T>G | ENSP00000483989.2:p.Phe34Cys | |
| NM_001282385.1:c.101T>G | NP_001269314.1:p.Phe34Cys | |
| NM_001320.6:c.101T>G | NP_001311.3:p.Phe34Cys | |
| NM_001320.7:c.101T>G MANE Select | NP_001311.3:p.Phe34Cys | |
| NM_001282385.2:c.101T>G | NP_001269314.1:p.Phe34Cys |