Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.42187969C>T , CM000671.2:g.42187969C>T | GRCh38 |
| NC_000009.11:g.43626420G>A , CM000671.1:g.43626420G>A | GRCh37 |
| NC_000009.10:g.43566416G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001145196.1:c.2267C>T MANE Select | NP_001138668.1:p.Ala756Val |
| ENST00000332857.7:c.2267C>T MANE Select | ENSP00000329825.6:p.Ala756Val |
| ENST00000332857.6:c.2267C>T | ENSP00000329825.6:p.Ala756Val |
| XM_011517871.1:c.2303C>T | XP_011516173.1:p.Ala768Val |
| XM_011517871.3:c.2303C>T | XP_011516173.1:p.Ala768Val |