Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75947482G>A , CM000668.2:g.75947482G>A | GRCh38 |
| NC_000006.11:g.76657199G>A , CM000668.1:g.76657199G>A | GRCh37 |
| NC_000006.10:g.76713919G>A | NCBI36 |
| NG_041812.1:g.130197C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001563.4:c.1876C>T MANE Select | NP_001554.2:p.Leu626Phe |
| ENST00000369950.8:c.1876C>T MANE Select | ENSP00000358966.3:p.Leu626Phe |
| NM_001282368.1:c.1642C>T | NP_001269297.1:p.Leu548Phe |
| NM_001282368.2:c.1642C>T | NP_001269297.1:p.Leu548Phe |
| NM_001563.3:c.1876C>T | NP_001554.2:p.Leu626Phe |
| ENST00000369950.7:c.1876C>T | ENSP00000358966.3:p.Leu626Phe |
| ENST00000611179.4:c.1642C>T | ENSP00000481913.1:p.Leu548Phe |