Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644275T= , CM000671.2:g.133644275T= | GRCh38 |
| NC_000009.11:g.136509397T= , CM000671.1:g.136509397T= | GRCh37 |
| NC_000009.10:g.135499218T= | NCBI36 |
| NG_008645.1:g.12913T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.979T= MANE Select | ENSP00000376776.2:p.Tyr327= | |
| ENST00000393056.6:c.979T= | ENSP00000376776.2:p.Tyr327= | |
| NM_000787.3:c.979T= | NP_000778.3:p.Tyr327= | |
| NM_000787.4:c.979T= MANE Select | NP_000778.3:p.Tyr327= |