Linked Data
ClinVar Variation Id:
142198
ClinVar RCV Id:
RCV000131186
RCV000168376
RCV000222337
RCV000765433
RCV001354464
RCV002243796
RCV003407552
dbSNP Id:
rs587782302
ExAC:
19:1223075 G / A
gnomAD v2:
19-1223075-G-A
gnomAD v3:
19-1223076-G-A
gnomAD v4:
19-1223076-G-A
PubMed:
PMID:28135145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223076G>A , CM000681.2:g.1223076G>A | GRCh38 |
| NC_000019.9:g.1223075G>A , CM000681.1:g.1223075G>A | GRCh37 |
| NC_000019.8:g.1174075G>A | NCBI36 |
| NG_007460.2:g.38670G>A , LRG_319:g.38670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.1012G>A | ENSP00000490268.2:p.Val338Met | |
| ENST00000585748.3:c.640G>A | ENSP00000477641.2:p.Val214Met | |
| ENST00000585851.2:c.838G>A | ENSP00000467912.2:p.Val280Met | |
| ENST00000326873.12:c.1012G>A MANE Select | ENSP00000324856.6:p.Val338Met | |
| ENST00000652231.1:c.1012G>A | ENSP00000498804.1:p.Val338Met | |
| ENST00000326873.11:c.1012G>A | ENSP00000324856.6:p.Val338Met | |
| ENST00000586243.5:c.1012G>A | ENSP00000467240.2:p.Val338Met | |
| ENST00000589152.5:n.1710G>A | ||
| ENST00000591133.2:n.983G>A | ||
| NM_000455.4:c.1012G>A , LRG_319t1:c.1012G>A | NP_000446.1:p.Val338Met | |
| XM_005259617.1:c.1012G>A | XP_005259674.1:p.Val338Met | |
| XM_005259618.3:c.1012G>A | XP_005259675.1:p.Val338Met | |
| XM_011528209.1:c.790G>A | XP_011526511.1:p.Val264Met | |
| XR_936204.1:n.1788G>A | ||
| XM_005259617.3:c.1012G>A | XP_005259674.1:p.Val338Met | |
| XM_011528209.2:c.790G>A | XP_011526511.1:p.Val264Met | |
| XR_001753738.2:n.1818G>A | ||
| XR_001753739.1:n.1818G>A | ||
| XR_001753740.2:n.1788G>A | ||
| NM_000455.5:c.1012G>A MANE Select | NP_000446.1:p.Val338Met |