Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81591166T>C , CM000665.2:g.81591166T>C | GRCh38 |
| NC_000003.11:g.81640317T>C , CM000665.1:g.81640317T>C | GRCh37 |
| NC_000003.10:g.81723007T>C | NCBI36 |
| NG_011810.1:g.175635A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1109-2A>G MANE Select | NP_000149.4:n.1109-2A>G |
| ENST00000429644.7:c.1109-2A>G MANE Select | ENSP00000410833.2:n.1109-2A>G |
| NM_000158.3:c.1109-2A>G | NP_000149.3:n.1109-2A>G |
| ENST00000429644.6:c.1109-2A>G | ENSP00000410833.2:n.1109-2A>G |
| ENST00000489715.1:c.986-2A>G | ENSP00000419638.1:n.986-2A>G |