Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75922133C>T , CM000668.2:g.75922133C>T | GRCh38 |
| NC_000006.11:g.76631850C>T , CM000668.1:g.76631850C>T | GRCh37 |
| NC_000006.10:g.76688570C>T | NCBI36 |
| NG_041812.1:g.155546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369950.8:c.2350G>A MANE Select | ENSP00000358966.3:p.Val784Ile | |
| ENST00000369950.7:c.2350G>A | ENSP00000358966.3:p.Val784Ile | |
| ENST00000369952.3:c.433G>A | ENSP00000358968.3:p.Val145Ile | |
| ENST00000611179.4:c.2116G>A | ENSP00000481913.1:p.Val706Ile | |
| NM_001282368.1:c.2116G>A | NP_001269297.1:p.Val706Ile | |
| NM_001563.3:c.2350G>A | NP_001554.2:p.Val784Ile | |
| NM_001563.4:c.2350G>A MANE Select | NP_001554.2:p.Val784Ile | |
| NM_001282368.2:c.2116G>A | NP_001269297.1:p.Val706Ile |