Linked Data
dbSNP Id:
rs772781837
ExAC:
9:132581199 C / A
gnomAD v2:
9-132581199-C-A
gnomAD v4:
9-129818920-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818920C>A , CM000671.2:g.129818920C>A | GRCh38 |
| NC_000009.11:g.132581199C>A , CM000671.1:g.132581199C>A | GRCh37 |
| NC_000009.10:g.131621020C>A | NCBI36 |
| NG_008049.1:g.10243G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.445G>T MANE Select | ENSP00000345719.4:p.Asp149Tyr | |
| ENST00000651202.1:c.541G>T | ENSP00000498222.1:p.Asp181Tyr | |
| ENST00000351698.4:c.445G>T | ENSP00000345719.4:p.Asp149Tyr | |
| ENST00000473604.2:n.555G>T | ||
| NM_000113.2:c.445G>T | NP_000104.1:p.Asp149Tyr | |
| XR_929731.1:n.605G>T | ||
| XR_929731.3:n.473G>T | ||
| NM_000113.3:c.445G>T MANE Select | NP_000104.1:p.Asp149Tyr |