Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.123684627C>G , CM000670.2:g.123684627C>G | GRCh38 |
| NC_000008.10:g.124696867C>G , CM000670.1:g.124696867C>G | GRCh37 |
| NC_000008.9:g.124766048C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004306.4:c.814G>C MANE Select | NP_004297.2:p.Val272Leu |
| ENST00000419625.6:c.814G>C MANE Select | ENSP00000390809.1:p.Val272Leu |
| NM_001003954.1:c.937G>C | NP_001003954.1:p.Val313Leu |
| NM_001003954.2:c.937G>C | NP_001003954.1:p.Val313Leu |
| NM_001003954.3:c.937G>C | NP_001003954.1:p.Val313Leu |
| NM_004306.2:c.814G>C | NP_004297.2:p.Val272Leu |
| NM_004306.3:c.814G>C | NP_004297.2:p.Val272Leu |
| ENST00000262219.10:c.937G>C | ENSP00000262219.6:p.Val313Leu |
| ENST00000419625.5:c.814G>C | ENSP00000390809.1:p.Val272Leu |