Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26484590T= , CM000684.2:g.26484590T= | GRCh38 |
| NC_000022.10:g.26880556T= , CM000684.1:g.26880556T= | GRCh37 |
| NC_000022.9:g.25210556T= | NCBI36 |
| NG_009763.2:g.4274A= , LRG_590:g.4274A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001013694.3:c.209+491T= MANE Select | NP_001013716.2:n.209+491T= |
| ENST00000215917.11:c.209+491T= MANE Select | ENSP00000215917.6:n.209+491T= |
| NM_001013694.2:c.209+491T= | NP_001013716.2:n.209+491T= |
| ENST00000613968.1:c.197+491T= | ENSP00000482019.1:n.197+491T= |
| XM_011530178.2:c.-51+491T= | XP_011528480.1:n.-51+491T= |
| XM_017028799.2:c.209+491T= | XP_016884288.1:n.209+491T= |