Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44294427C>G , CM000683.2:g.44294427C>G | GRCh38 |
| NC_000021.8:g.45714310C>G , CM000683.1:g.45714310C>G | GRCh37 |
| NC_000021.7:g.44538738C>G | NCBI36 |
| NG_009556.1:g.13548C>G , LRG_18:g.13548C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1427C>G MANE Select | NP_000374.1:p.Ser476Ter |
| ENST00000291582.6:c.1427C>G MANE Select | ENSP00000291582.5:p.Ser476Ter |
| NM_000383.3:c.1427C>G | NP_000374.1:p.Ser476Ter |
| ENST00000291582.5:c.1427C>G | ENSP00000291582.5:p.Ser476Ter |
| ENST00000337909.5:n.888C>G | |
| ENST00000397994.8:n.806C>G | |
| ENST00000527919.5:n.2186C>G | |
| ENST00000530812.5:n.3174C>G | |
| XM_011529551.1:c.1424C>G | XP_011527853.1:p.Ser475Ter |