Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455958T>G , CM000679.2:g.7455958T>G | GRCh38 |
| NC_000017.10:g.7359277T>G , CM000679.1:g.7359277T>G | GRCh37 |
| NC_000017.9:g.7300001T>G | NCBI36 |
| NG_008026.1:g.15872T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000747.3:c.1365+17T>G MANE Select | NP_000738.2:n.1365+17T>G |
| ENST00000306071.7:c.1365+17T>G MANE Select | ENSP00000304290.2:n.1365+17T>G |
| NM_000747.2:c.1365+17T>G | NP_000738.2:n.1365+17T>G |
| ENST00000306071.6:c.1365+17T>G | ENSP00000304290.2:n.1365+17T>G |
| ENST00000536404.6:c.1149+17T>G | ENSP00000439209.2:n.1149+17T>G |
| ENST00000575379.1:c.-28+17T>G | ENSP00000461751.1:n.-28+17T>G |
| ENST00000576360.1:c.1002+17T>G | ENSP00000459092.1:n.1002+17T>G |