Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44294466C>T , CM000683.2:g.44294466C>T | GRCh38 |
| NC_000021.8:g.45714349C>T , CM000683.1:g.45714349C>T | GRCh37 |
| NC_000021.7:g.44538777C>T | NCBI36 |
| NG_009556.1:g.13587C>T , LRG_18:g.13587C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1466C>T MANE Select | NP_000374.1:p.Ala489Val |
| ENST00000291582.6:c.1466C>T MANE Select | ENSP00000291582.5:p.Ala489Val |
| NM_000383.3:c.1466C>T | NP_000374.1:p.Ala489Val |
| ENST00000291582.5:c.1466C>T | ENSP00000291582.5:p.Ala489Val |
| ENST00000337909.5:n.927C>T | |
| ENST00000397994.8:n.845C>T | |
| ENST00000527919.5:n.2225C>T | |
| ENST00000530812.5:n.3213C>T | |
| XM_011529551.1:c.1463C>T | XP_011527853.1:p.Ala488Val |