Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1823715T>A , CM000666.2:g.1823715T>A | GRCh38 |
| NC_000004.11:g.1825442T>A , CM000666.1:g.1825442T>A | GRCh37 |
| NC_000004.10:g.1795240T>A | NCBI36 |
| NG_013063.1:g.37533A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.1261A>T MANE Select | ENSP00000305653.2:p.Met421Leu | |
| ENST00000302787.2:c.1261A>T | ENSP00000305653.2:p.Met421Leu | |
| ENST00000511977.1:n.317A>T | ||
| NM_012318.2:c.1261A>T | NP_036450.1:p.Met421Leu | |
| XM_005247970.3:c.346A>T | XP_005248027.1:p.Met116Leu | |
| XM_006713884.1:c.1261A>T | XP_006713947.1:p.Met421Leu | |
| NM_012318.3:c.1261A>T MANE Select | NP_036450.1:p.Met421Leu |