Linked Data
dbSNP Id:
rs747761910
ExAC:
19:51411943 C / A
gnomAD v2:
19-51411943-C-A
gnomAD v3:
19-50908687-C-A
gnomAD v4:
19-50908687-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908687C>A , CM000681.2:g.50908687C>A | GRCh38 |
| NC_000019.9:g.51411943C>A , CM000681.1:g.51411943C>A | GRCh37 |
| NC_000019.8:g.56103755C>A | NCBI36 |
| NG_012154.2:g.7052G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.367G>T MANE Select | ENSP00000326159.1:p.Asp123Tyr | |
| ENST00000324041.5:c.367G>T | ENSP00000326159.1:p.Asp123Tyr | |
| ENST00000431178.2:c.220G>T | ENSP00000399448.2:p.Asp74Tyr | |
| ENST00000593885.1:c.82G>T | ENSP00000469769.1:p.Asp28Tyr | |
| ENST00000596876.1:n.286G>T | ||
| ENST00000598305.5:c.82G>T | ENSP00000469963.1:p.Asp28Tyr | |
| ENST00000599865.5:n.220G>T | ||
| ENST00000602148.1:c.379G>T | ENSP00000472091.1:n.379G>T | |
| NM_001302961.1:c.82G>T | NP_001289890.1:p.Asp28Tyr | |
| NM_004917.4:c.367G>T | NP_004908.4:p.Asp123Tyr | |
| NR_126566.1:n.360G>T | ||
| XM_005259441.3:c.82G>T | XP_005259498.2:p.Asp28Tyr | |
| XM_011527545.1:c.367G>T | XP_011525847.1:p.Asp123Tyr | |
| XM_011527546.1:c.367G>T | XP_011525848.1:p.Asp123Tyr | |
| XM_011527547.1:c.220G>T | XP_011525849.1:p.Asp74Tyr | |
| XM_005259441.4:c.82G>T | XP_005259498.2:p.Asp28Tyr | |
| XM_011527545.3:c.367G>T | XP_011525847.1:p.Asp123Tyr | |
| XM_011527546.2:c.367G>T | XP_011525848.1:p.Asp123Tyr | |
| NM_001302961.2:c.82G>T | NP_001289890.1:p.Asp28Tyr | |
| NR_126566.2:n.360G>T | ||
| NM_004917.5:c.367G>T MANE Select | NP_004908.4:p.Asp123Tyr |