Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189110224C>T , CM000664.2:g.189110224C>T | GRCh38 |
| NC_000002.11:g.189974950C>T , CM000664.1:g.189974950C>T | GRCh37 |
| NC_000002.10:g.189683195C>T | NCBI36 |
| NG_011799.1:g.74656G>A | |
| NG_011799.2:g.74656G>A | |
| NG_011799.3:g.120078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.322+1G>A MANE Select | ENSP00000364000.3:n.322+1G>A | |
| ENST00000649966.1:c.184+1G>A | ENSP00000496785.1:n.184+1G>A | |
| ENST00000374866.7:c.322+1G>A | ENSP00000364000.3:n.322+1G>A | |
| ENST00000618828.1:c.-309+1G>A | ENSP00000482184.1:n.-309+1G>A | |
| NM_000393.3:c.322+1G>A | NP_000384.2:n.322+1G>A | |
| XM_011510573.1:c.184+1G>A | XP_011508875.1:n.184+1G>A | |
| NM_000393.4:c.322+1G>A | NP_000384.2:n.322+1G>A | |
| XM_011510573.3:c.184+1G>A | XP_011508875.1:n.184+1G>A | |
| NM_000393.5:c.322+1G>A MANE Select | NP_000384.2:n.322+1G>A |