Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75947392C>A , CM000668.2:g.75947392C>A | GRCh38 |
| NC_000006.11:g.76657109C>A , CM000668.1:g.76657109C>A | GRCh37 |
| NC_000006.10:g.76713829C>A | NCBI36 |
| NG_041812.1:g.130287G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369950.8:c.1966G>T MANE Select | ENSP00000358966.3:p.Val656Phe | |
| ENST00000369950.7:c.1966G>T | ENSP00000358966.3:p.Val656Phe | |
| ENST00000611179.4:c.1732G>T | ENSP00000481913.1:p.Val578Phe | |
| NM_001282368.1:c.1732G>T | NP_001269297.1:p.Val578Phe | |
| NM_001563.3:c.1966G>T | NP_001554.2:p.Val656Phe | |
| NM_001563.4:c.1966G>T MANE Select | NP_001554.2:p.Val656Phe | |
| NM_001282368.2:c.1732G>T | NP_001269297.1:p.Val578Phe |