Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739101C>A , CM000674.2:g.120739101C>A | GRCh38 |
| NC_000012.11:g.121176904C>A , CM000674.1:g.121176904C>A | GRCh37 |
| NC_000012.10:g.119661287C>A | NCBI36 |
| NG_007991.1:g.18334C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1030-39C>A MANE Select | ENSP00000242592.4:n.1030-39C>A | |
| ENST00000242592.8:c.1030-39C>A | ENSP00000242592.4:n.1030-39C>A | |
| ENST00000411593.2:c.1018-39C>A | ENSP00000401045.2:n.1018-39C>A | |
| NM_000017.3:c.1030-39C>A | NP_000008.1:n.1030-39C>A | |
| NM_001302554.1:c.1018-39C>A | NP_001289483.1:n.1018-39C>A | |
| NM_000017.4:c.1030-39C>A MANE Select | NP_000008.1:n.1030-39C>A | |
| NM_001302554.2:c.1018-39C>A | NP_001289483.1:n.1018-39C>A |