Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727410C>T , CM000672.2:g.87727410C>T | GRCh38 |
| NC_000010.10:g.89487167C>T , CM000672.1:g.89487167C>T | GRCh37 |
| NC_000010.9:g.89477147C>T | NCBI36 |
| NG_012150.1:g.72692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1007C>T MANE Select | ENSP00000406157.1:p.Ala336Val | |
| ENST00000361175.8:c.992C>T | ENSP00000354436.4:p.Ala331Val | |
| ENST00000456849.1:c.1007C>T | ENSP00000406157.1:p.Ala336Val | |
| NM_001015880.1:c.1007C>T | NP_001015880.1:p.Ala336Val | |
| NM_004670.3:c.992C>T | NP_004661.2:p.Ala331Val | |
| NM_001015880.2:c.1007C>T MANE Select | NP_001015880.1:p.Ala336Val | |
| NM_004670.4:c.992C>T | NP_004661.2:p.Ala331Val |