Linked Data
dbSNP Id:
rs1315875811
gnomAD v2:
10-50701284-C-A
gnomAD v3:
10-49493238-C-A
gnomAD v4:
10-49493238-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493238C>A , CM000672.2:g.49493238C>A | GRCh38 |
| NC_000010.10:g.50701284C>A , CM000672.1:g.50701284C>A | GRCh37 |
| NC_000010.9:g.50371290C>A | NCBI36 |
| NG_009442.1:g.50864G>T , LRG_465:g.50864G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1700G>T MANE Select | ENSP00000348089.5:p.Gly567Val | |
| ENST00000681632.1:n.1778G>T | ||
| ENST00000681659.1:c.1541G>T | ENSP00000505631.1:p.Gly514Val | |
| ENST00000355832.9:c.1700G>T | ENSP00000348089.5:p.Gly567Val | |
| ENST00000475116.1:n.275+7300G>T | ||
| ENST00000623073.3:c.101G>T | ENSP00000485650.1:p.Gly34Val | |
| ENST00000623115.3:c.-70+7300G>T | ENSP00000485321.1:n.-70+7300G>T | |
| ENST00000623318.1:c.101G>T | ENSP00000485423.1:p.Gly34Val | |
| NM_000124.3:c.1700G>T | NP_000115.1:p.Gly567Val | |
| NM_001346440.1:c.1700G>T | NP_001333369.1:p.Gly567Val | |
| NM_000124.4:c.1700G>T MANE Select | NP_000115.1:p.Gly567Val | |
| NM_001346440.2:c.1700G>T | NP_001333369.1:p.Gly567Val |