Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533712C>G , CM000681.2:g.7533712C>G | GRCh38 |
| NC_000019.9:g.7598598C>G , CM000681.1:g.7598598C>G | GRCh37 |
| NC_000019.8:g.7504598C>G | NCBI36 |
| NG_013374.1:g.4561C>G | |
| NG_015806.1:g.16103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1707-47C>G MANE Select | ENSP00000264079.5:n.1707-47C>G | |
| ENST00000264079.10:c.1707-47C>G | ENSP00000264079.5:n.1707-47C>G | |
| ENST00000394321.9:n.2022-47C>G | ||
| ENST00000599334.1:c.435-47C>G | ||
| ENST00000601870.1:c.60-47C>G | ||
| ENST00000602227.1:n.261-47C>G | ||
| NM_020533.2:c.1707-47C>G | NP_065394.1:n.1707-47C>G | |
| NM_020533.3:c.1707-47C>G MANE Select | NP_065394.1:n.1707-47C>G |