Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.123684627C>A , CM000670.2:g.123684627C>A | GRCh38 |
| NC_000008.10:g.124696867C>A , CM000670.1:g.124696867C>A | GRCh37 |
| NC_000008.9:g.124766048C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419625.6:c.814G>T MANE Select | ENSP00000390809.1:p.Val272Phe | |
| ENST00000262219.10:c.937G>T | ENSP00000262219.6:p.Val313Phe | |
| ENST00000419625.5:c.814G>T | ENSP00000390809.1:p.Val272Phe | |
| NM_001003954.1:c.937G>T | NP_001003954.1:p.Val313Phe | |
| NM_004306.2:c.814G>T | NP_004297.2:p.Val272Phe | |
| NM_001003954.2:c.937G>T | NP_001003954.1:p.Val313Phe | |
| NM_004306.3:c.814G>T | NP_004297.2:p.Val272Phe | |
| NM_004306.4:c.814G>T MANE Select | NP_004297.2:p.Val272Phe | |
| NM_001003954.3:c.937G>T | NP_001003954.1:p.Val313Phe |