Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37749345C>T , CM000683.2:g.37749345C>T | GRCh38 |
| NC_000021.8:g.39121648C>T , CM000683.1:g.39121648C>T | GRCh37 |
| NC_000021.7:g.38043518C>T | NCBI36 |
| NG_029892.2:g.172049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609713.2:c.26-34214G>A MANE Select | ENSP00000477437.1:n.26-34214G>A | |
| ENST00000645093.1:c.26-34214G>A | ENSP00000493772.1:n.26-34214G>A | |
| ENST00000609713.1:c.26-34214G>A | ENSP00000477437.1:n.26-34214G>A | |
| NM_002240.3:c.26-34214G>A | NP_002231.1:n.26-34214G>A | |
| NM_002240.4:c.26-34214G>A | NP_002231.1:n.26-34214G>A | |
| XM_011529558.1:c.26-34214G>A | XP_011527860.1:n.26-34214G>A | |
| XM_011529559.1:c.26-34214G>A | XP_011527861.1:n.26-34214G>A | |
| NM_002240.5:c.26-34214G>A MANE Select | NP_002231.1:n.26-34214G>A |