Linked Data
ClinVar Variation Id:
2141044
ClinVar RCV Id:
RCV003060265
dbSNP Id:
rs115319252
ExAC:
10:50669597 C / T
gnomAD v2:
10-50669597-C-T
gnomAD v3:
10-49461551-C-T
gnomAD v4:
10-49461551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461551C>T , CM000672.2:g.49461551C>T | GRCh38 |
| NC_000010.10:g.50669597C>T , CM000672.1:g.50669597C>T | GRCh37 |
| NC_000010.9:g.50339603C>T | NCBI36 |
| NG_009442.1:g.82551G>A , LRG_465:g.82551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3784G>A MANE Select | ENSP00000348089.5:p.Val1262Met | |
| ENST00000679552.1:n.855G>A | ||
| ENST00000679871.1:n.930G>A | ||
| ENST00000679974.1:n.833G>A | ||
| ENST00000681632.1:n.5187G>A | ||
| ENST00000681659.1:c.3625G>A | ENSP00000505631.1:p.Val1209Met | |
| ENST00000355832.9:c.3784G>A | ENSP00000348089.5:p.Val1262Met | |
| ENST00000465653.1:n.106G>A | ||
| ENST00000623073.3:c.*2080G>A | ENSP00000485650.1:n.*2080G>A | |
| ENST00000623115.3:c.1894G>A | ENSP00000485321.1:p.Val632Met | |
| ENST00000624341.3:c.1616G>A | ||
| NM_000124.3:c.3784G>A | NP_000115.1:p.Val1262Met | |
| XR_945953.1:n.243-10014C>T | ||
| NM_001346440.1:c.3784G>A | NP_001333369.1:p.Val1262Met | |
| NM_000124.4:c.3784G>A MANE Select | NP_000115.1:p.Val1262Met | |
| NM_001346440.2:c.3784G>A | NP_001333369.1:p.Val1262Met |