Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818871G>T , CM000671.2:g.129818871G>T | GRCh38 |
| NC_000009.11:g.132581150G>T , CM000671.1:g.132581150G>T | GRCh37 |
| NC_000009.10:g.131620971G>T | NCBI36 |
| NG_008049.1:g.10292C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.494C>A MANE Select | ENSP00000345719.4:p.Ser165Tyr | |
| ENST00000651202.1:c.590C>A | ENSP00000498222.1:p.Ser197Tyr | |
| ENST00000351698.4:c.494C>A | ENSP00000345719.4:p.Ser165Tyr | |
| ENST00000473604.2:n.604C>A | ||
| NM_000113.2:c.494C>A | NP_000104.1:p.Ser165Tyr | |
| XR_929731.1:n.654C>A | ||
| XR_929731.3:n.522C>A | ||
| NM_000113.3:c.494C>A MANE Select | NP_000104.1:p.Ser165Tyr |