Linked Data
dbSNP Id:
rs371201478
ExAC:
18:58038660 T / A
gnomAD v2:
18-58038660-T-A
gnomAD v3:
18-60371427-T-A
gnomAD v4:
18-60371427-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371427T>A , CM000680.2:g.60371427T>A | GRCh38 |
| NC_000018.9:g.58038660T>A , CM000680.1:g.58038660T>A | GRCh37 |
| NC_000018.8:g.56189640T>A | NCBI36 |
| NG_016441.1:g.6342A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.923A>T MANE Select | ENSP00000299766.3:p.Glu308Val | |
| ENST00000299766.4:c.923A>T | ENSP00000299766.3:p.Glu308Val | |
| NM_005912.2:c.923A>T | NP_005903.2:p.Glu308Val | |
| NM_005912.3:c.923A>T MANE Select | NP_005903.2:p.Glu308Val |