Linked Data
ClinVar Variation Id:
2222316
ClinVar RCV Id:
RCV004088140
dbSNP Id:
rs150485088
ExAC:
14:74404384 G / A
gnomAD v2:
14-74404384-G-A
gnomAD v3:
14-73937681-G-A
gnomAD v4:
14-73937681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73937681G>A , CM000676.2:g.73937681G>A | GRCh38 |
| NC_000014.8:g.74404384G>A , CM000676.1:g.74404384G>A | GRCh37 |
| NC_000014.7:g.73474137G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286544.5:c.1586C>T MANE Select | ENSP00000286544.4:p.Ala529Val | |
| ENST00000651776.1:c.1775C>T | ENSP00000499021.1:p.Ala592Val | |
| ENST00000286544.3:c.1775C>T | ENSP00000286544.3:p.Ala592Val | |
| ENST00000556794.5:c.168C>T | ||
| NM_152445.2:c.1775C>T | NP_689658.2:p.Ala592Val | |
| XM_011536475.1:c.1775C>T | XP_011534777.1:p.Ala592Val | |
| NM_152445.3:c.1586C>T MANE Select | NP_689658.3:p.Ala529Val | |
| XM_011536475.2:c.1775C>T | XP_011534777.1:p.Ala592Val |