Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286060C>G , CM000683.2:g.44286060C>G | GRCh38 |
| NC_000021.8:g.45705943C>G , CM000683.1:g.45705943C>G | GRCh37 |
| NC_000021.7:g.44530371C>G | NCBI36 |
| NG_009556.1:g.5181C>G , LRG_18:g.5181C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.54C>G MANE Select | NP_000374.1:p.Ile18Met |
| ENST00000291582.6:c.54C>G MANE Select | ENSP00000291582.5:p.Ile18Met |
| NM_000383.3:c.54C>G | NP_000374.1:p.Ile18Met |
| ENST00000291582.5:c.54C>G | ENSP00000291582.5:p.Ile18Met |
| ENST00000527919.5:n.215C>G | |
| ENST00000530812.5:n.223C>G | |
| XM_011529551.1:c.54C>G | XP_011527853.1:p.Ile18Met |