Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076579G>T , CM000679.2:g.8076579G>T | GRCh38 |
| NC_000017.10:g.7979897G>T , CM000679.1:g.7979897G>T | GRCh37 |
| NC_000017.9:g.7920622G>T | NCBI36 |
| NG_007099.1:g.16125C>A | |
| NG_007099.2:g.16138C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1362+78C>A MANE Select | ENSP00000497784.1:n.1362+78C>A | |
| ENST00000649809.1:c.426+78C>A | ENSP00000496845.1:n.426+78C>A | |
| ENST00000319144.4:c.1362+78C>A | ENSP00000315167.4:n.1362+78C>A | |
| ENST00000577351.5:n.309+78C>A | ||
| ENST00000583276.5:n.746+78C>A | ||
| ENST00000584116.1:n.618+78C>A | ||
| NM_001139.2:c.1362+78C>A | NP_001130.1:n.1362+78C>A | |
| NM_001139.3:c.1362+78C>A MANE Select | NP_001130.1:n.1362+78C>A |