Linked Data
dbSNP Id:
rs781649328
ExAC:
19:49519358 G / T
gnomAD v2:
19-49519358-G-T
gnomAD v4:
19-49016101-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016101G>T , CM000681.2:g.49016101G>T | GRCh38 |
| NC_000019.9:g.49519358G>T , CM000681.1:g.49519358G>T | GRCh37 |
| NC_000019.8:g.54211170G>T | NCBI36 |
| NG_011464.1:g.5990C>A | |
| NG_033041.1:g.27203G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.393C>A MANE Select | ENSP00000497294.2:p.Asp131Glu | |
| ENST00000649284.1:n.484C>A | ||
| ENST00000221421.6:c.393C>A | ENSP00000221421.1:p.Asp131Glu | |
| ENST00000391869.4:c.387C>A | ENSP00000375742.4:p.Asp129Glu | |
| NM_000894.2:c.393C>A | NP_000885.1:p.Asp131Glu | |
| XM_011526975.1:c.441C>A | XP_011525277.1:p.Asp147Glu | |
| NM_000894.3:c.393C>A MANE Select | NP_000885.1:p.Asp131Glu |