Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822666T>G , CM000671.2:g.129822666T>G | GRCh38 |
| NC_000009.11:g.132584945T>G , CM000671.1:g.132584945T>G | GRCh37 |
| NC_000009.10:g.131624766T>G | NCBI36 |
| NG_008049.1:g.6497A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.359A>C MANE Select | ENSP00000345719.4:p.Tyr120Ser | |
| ENST00000651202.1:c.455A>C | ENSP00000498222.1:p.Tyr152Ser | |
| ENST00000351698.4:c.359A>C | ENSP00000345719.4:p.Tyr120Ser | |
| ENST00000473084.1:n.378A>C | ||
| ENST00000473604.2:n.469A>C | ||
| NM_000113.2:c.359A>C | NP_000104.1:p.Tyr120Ser | |
| XR_929731.1:n.519A>C | ||
| XR_929731.3:n.387A>C | ||
| NM_000113.3:c.359A>C MANE Select | NP_000104.1:p.Tyr120Ser |