Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46687178T>C , CM000682.2:g.46687178T>C | GRCh38 |
| NC_000020.10:g.45315817T>C , CM000682.1:g.45315817T>C | GRCh37 |
| NC_000020.9:g.44749224T>C | NCBI36 |
| NG_047182.1:g.2308A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033550.4:c.337A>G MANE Select | NP_291028.3:p.Met113Val |
| ENST00000372114.4:c.337A>G MANE Select | ENSP00000361186.3:p.Met113Val |
| NM_033550.3:c.337A>G | NP_291028.3:p.Met113Val |
| ENST00000372102.3:c.342A>G | ENSP00000361174.3:p.Ile114Met |
| ENST00000372114.3:c.337A>G | ENSP00000361186.3:p.Met113Val |