Linked Data
ClinVar Variation Id:
364308
ClinVar RCV Id:
RCV000398704
dbSNP Id:
rs755508323
ExAC:
9:104187168 G / A
gnomAD v2:
9-104187168-G-A
gnomAD v3:
9-101424886-G-A
gnomAD v4:
9-101424886-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424886G>A , CM000671.2:g.101424886G>A | GRCh38 |
| NC_000009.11:g.104187168G>A , CM000671.1:g.104187168G>A | GRCh37 |
| NC_000009.10:g.103226989G>A | NCBI36 |
| NG_012387.1:g.15895C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.956C>T MANE Select | ENSP00000497767.1:p.Ala319Val | |
| ENST00000648064.1:c.956C>T | ENSP00000497990.1:p.Ala319Val | |
| ENST00000648758.1:c.956C>T | ENSP00000497731.1:p.Ala319Val | |
| ENST00000649902.1:c.956C>T | ENSP00000497216.1:p.Ala319Val | |
| ENST00000374855.8:c.956C>T | ENSP00000363988.4:p.Ala319Val | |
| ENST00000616752.1:c.919C>T | ENSP00000481363.1:p.Gln307Ter | |
| NM_000035.3:c.956C>T | NP_000026.2:p.Ala319Val | |
| NM_000035.4:c.956C>T MANE Select | NP_000026.2:p.Ala319Val |