Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48980693A>G , CM000674.2:g.48980693A>G | GRCh38 |
| NC_000012.11:g.49374476A>G , CM000674.1:g.49374476A>G | GRCh37 |
| NC_000012.10:g.47660743A>G | NCBI36 |
| NG_033141.1:g.7241A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.624+4A>G MANE Select | ENSP00000293549.3:n.624+4A>G | |
| ENST00000293549.3:c.624+4A>G | ENSP00000293549.3:n.624+4A>G | |
| ENST00000613114.4:c.624+4A>G | ENSP00000481240.1:n.624+4A>G | |
| NM_005430.3:c.624+4A>G | NP_005421.1:n.624+4A>G | |
| NM_005430.4:c.624+4A>G MANE Select | NP_005421.1:n.624+4A>G |