Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076650G= , CM000679.2:g.8076650G= | GRCh38 |
| NC_000017.10:g.7979968G= , CM000679.1:g.7979968G= | GRCh37 |
| NC_000017.9:g.7920693G= | NCBI36 |
| NG_007099.1:g.16054C= | |
| NG_007099.2:g.16067C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1362+7C= MANE Select | ENSP00000497784.1:n.1362+7C= | |
| ENST00000649809.1:c.426+7C= | ENSP00000496845.1:n.426+7C= | |
| ENST00000319144.4:c.1362+7C= | ENSP00000315167.4:n.1362+7C= | |
| ENST00000577351.5:n.309+7C= | ||
| ENST00000583276.5:n.746+7C= | ||
| ENST00000584116.1:n.618+7C= | ||
| NM_001139.2:c.1362+7C= | NP_001130.1:n.1362+7C= | |
| NM_001139.3:c.1362+7C= MANE Select | NP_001130.1:n.1362+7C= |