Linked Data
dbSNP Id:
rs766608781
ExAC:
19:15303034 T / A
gnomAD v2:
19-15303034-T-A
gnomAD v3:
19-15192223-T-A
gnomAD v4:
19-15192223-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192223T>A , CM000681.2:g.15192223T>A | GRCh38 |
| NC_000019.9:g.15303034T>A , CM000681.1:g.15303034T>A | GRCh37 |
| NC_000019.8:g.15164034T>A | NCBI36 |
| NG_009819.1:g.13759A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.416A>T MANE Select | ENSP00000263388.1:p.Asp139Val | |
| ENST00000263388.6:c.416A>T | ENSP00000263388.1:p.Asp139Val | |
| ENST00000601011.1:c.413A>T | ENSP00000473138.1:p.Asp138Val | |
| NM_000435.2:c.416A>T | NP_000426.2:p.Asp139Val | |
| XM_005259924.3:c.416A>T | XP_005259981.1:p.Asp139Val | |
| XM_005259924.4:c.416A>T | XP_005259981.1:p.Asp139Val | |
| NM_000435.3:c.416A>T MANE Select | NP_000426.2:p.Asp139Val |