Linked Data
dbSNP Id:
rs1851207123
gnomAD v4:
10-49493192-C-T
MyVariant Identifiers:
chr10:g.50701238C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493192C>T , CM000672.2:g.49493192C>T | GRCh38 |
| NC_000010.10:g.50701238C>T , CM000672.1:g.50701238C>T | GRCh37 |
| NC_000010.9:g.50371244C>T | NCBI36 |
| NG_009442.1:g.50910G>A , LRG_465:g.50910G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1746G>A MANE Select | ENSP00000348089.5:p.Val582= | |
| ENST00000681632.1:n.1824G>A | ||
| ENST00000681659.1:c.1587G>A | ENSP00000505631.1:p.Val529= | |
| ENST00000355832.9:c.1746G>A | ENSP00000348089.5:p.Val582= | |
| ENST00000475116.1:n.275+7346G>A | ||
| ENST00000623073.3:c.147G>A | ENSP00000485650.1:p.Val49= | |
| ENST00000623115.3:c.-70+7346G>A | ENSP00000485321.1:n.-70+7346G>A | |
| ENST00000623318.1:c.147G>A | ENSP00000485423.1:p.Val49= | |
| NM_000124.3:c.1746G>A | NP_000115.1:p.Val582= | |
| NM_001346440.1:c.1746G>A | NP_001333369.1:p.Val582= | |
| NM_000124.4:c.1746G>A MANE Select | NP_000115.1:p.Val582= | |
| NM_001346440.2:c.1746G>A | NP_001333369.1:p.Val582= |