Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292351C>T , CM000683.2:g.44292351C>T | GRCh38 |
| NC_000021.8:g.45712234C>T , CM000683.1:g.45712234C>T | GRCh37 |
| NC_000021.7:g.44536662C>T | NCBI36 |
| NG_009556.1:g.11472C>T , LRG_18:g.11472C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1045C>T MANE Select | NP_000374.1:p.Gln349Ter |
| ENST00000291582.6:c.1045C>T MANE Select | ENSP00000291582.5:p.Gln349Ter |
| NM_000383.3:c.1045C>T | NP_000374.1:p.Gln349Ter |
| ENST00000291582.5:c.1045C>T | ENSP00000291582.5:p.Gln349Ter |
| ENST00000337909.5:n.506C>T | |
| ENST00000397994.8:n.506C>T | |
| ENST00000527919.5:n.1775C>T | |
| ENST00000530812.5:n.2792C>T | |
| XM_011529551.1:c.1042C>T | XP_011527853.1:p.Gln348Ter |