Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644250C>T , CM000671.2:g.133644250C>T | GRCh38 |
| NC_000009.11:g.136509372C>T , CM000671.1:g.136509372C>T | GRCh37 |
| NC_000009.10:g.135499193C>T | NCBI36 |
| NG_008645.1:g.12888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.954C>T MANE Select | ENSP00000376776.2:p.Ala318= | |
| ENST00000393056.6:c.954C>T | ENSP00000376776.2:p.Ala318= | |
| NM_000787.3:c.954C>T | NP_000778.3:p.Ala318= | |
| NM_000787.4:c.954C>T MANE Select | NP_000778.3:p.Ala318= |