Linked Data
ClinVar Variation Id:
9065
ClinVar RCV Id:
RCV000009632
dbSNP Id:
rs80356790
gnomAD v4:
11-68781882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68781882G>A , CM000673.2:g.68781882G>A | GRCh38 |
| NC_000011.9:g.68549350G>A , CM000673.1:g.68549350G>A | GRCh37 |
| NC_000011.8:g.68305926G>A | NCBI36 |
| NG_011801.1:g.65050C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265641.10:c.1241C>T MANE Select | ENSP00000265641.4:p.Ala414Val | |
| ENST00000265641.9:c.1241C>T | ENSP00000265641.4:p.Ala414Val | |
| ENST00000376618.6:c.1241C>T | ENSP00000365803.2:p.Ala414Val | |
| ENST00000539743.5:c.1241C>T | ENSP00000446108.1:p.Ala414Val | |
| ENST00000540367.5:c.1241C>T | ENSP00000439084.1:p.Ala414Val | |
| NM_001031847.2:c.1241C>T | NP_001027017.1:p.Ala414Val | |
| NM_001876.3:c.1241C>T | NP_001867.2:p.Ala414Val | |
| XM_005273762.1:c.1337C>T | XP_005273819.1:p.Ala446Val | |
| XM_005273763.1:c.1337C>T | XP_005273820.1:p.Ala446Val | |
| XM_005273762.3:c.1337C>T | XP_005273819.1:p.Ala446Val | |
| XM_017017220.1:c.1241C>T | XP_016872709.1:p.Ala414Val | |
| NM_001876.4:c.1241C>T MANE Select | NP_001867.2:p.Ala414Val | |
| NM_001031847.3:c.1241C>T | NP_001027017.1:p.Ala414Val |