Linked Data
ClinVar Variation Id:
4502
dbSNP Id:
rs121912620
ExAC:
5:33944889 G / A
gnomAD v2:
5-33944889-G-A
gnomAD v3:
5-33944784-G-A
gnomAD v4:
5-33944784-G-A
PubMed:
PMID:14722913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944784G>A , CM000667.2:g.33944784G>A | GRCh38 |
| NC_000005.9:g.33944889G>A , CM000667.1:g.33944889G>A | GRCh37 |
| NC_000005.8:g.33980646G>A | NCBI36 |
| NG_011691.2:g.44892C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296589.9:c.1457C>T MANE Select | ENSP00000296589.4:p.Ala486Val | |
| ENST00000296589.8:c.1457C>T | ENSP00000296589.4:p.Ala486Val | |
| NM_016180.4:c.1457C>T | NP_057264.3:p.Ala486Val | |
| XM_011514051.1:c.1055C>T | XP_011512353.1:p.Ala352Val | |
| NM_016180.5:c.1457C>T MANE Select | NP_057264.4:p.Ala486Val |