Linked Data
ClinVar Variation Id:
11989
dbSNP Id:
rs121964979
ExAC:
9:6595109 G / A
gnomAD v2:
9-6595109-G-A
gnomAD v3:
9-6595109-G-A
gnomAD v4:
9-6595109-G-A
COSMIC:
COSM3907610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595109G>A , CM000671.2:g.6595109G>A | GRCh38 |
| NC_000009.11:g.6595109G>A , CM000671.1:g.6595109G>A | GRCh37 |
| NC_000009.10:g.6585109G>A | NCBI36 |
| NG_016397.1:g.55584C>T , LRG_643:g.55584C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1166C>T MANE Select | ENSP00000370737.4:p.Ala389Val | |
| ENST00000638654.1:c.413C>T | ENSP00000491101.1:p.Ala138Val | |
| ENST00000639364.1:n.866C>T | ||
| ENST00000639443.1:n.734C>T | ||
| ENST00000639493.1:n.318C>T | ||
| ENST00000639954.1:n.874C>T | ||
| ENST00000640592.1:n.1049C>T | ||
| ENST00000321612.6:c.1166C>T | ENSP00000370737.3:p.Ala389Val | |
| ENST00000463305.1:n.250C>T | ||
| NM_000170.2:c.1166C>T , LRG_643t1:c.1166C>T | NP_000161.2:p.Ala389Val | |
| NM_000170.3:c.1166C>T MANE Select | NP_000161.2:p.Ala389Val |