Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65957964A>G , CM000674.2:g.65957964A>G | GRCh38 |
| NC_000012.11:g.66351744A>G , CM000674.1:g.66351744A>G | GRCh37 |
| NC_000012.10:g.64638011A>G | NCBI36 |
| NG_016296.1:g.138505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.283-5281A>G MANE Select | ENSP00000384026.2:n.283-5281A>G | |
| ENST00000403681.6:c.283-5281A>G | ENSP00000384026.2:n.283-5281A>G | |
| ENST00000539662.1:c.320-5281A>G | ENSP00000440919.1:n.320-5281A>G | |
| ENST00000541363.5:c.*6531A>G | ENSP00000439317.1:n.*6531A>G | |
| NM_003483.4:c.283-5281A>G | NP_003474.1:n.283-5281A>G | |
| NM_003483.6:c.283-5281A>G MANE Select | NP_003474.1:n.283-5281A>G |