Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560415A>C , CM000673.2:g.66560415A>C | GRCh38 |
| NC_000011.9:g.66327886A>C , CM000673.1:g.66327886A>C | GRCh37 |
| NC_000011.8:g.66084462A>C | NCBI36 |
| NG_013304.2:g.18496A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1677+104A>C MANE Select | ENSP00000426797.1:n.1677+104A>C | |
| ENST00000502692.5:c.1806+104A>C | ENSP00000422007.1:n.1806+104A>C | |
| ENST00000513398.1:c.1677+104A>C | ENSP00000426797.1:n.1677+104A>C | |
| NM_001104.3:c.1677+104A>C | NP_001095.2:n.1677+104A>C | |
| NM_001258371.2:c.1806+104A>C | NP_001245300.2:n.1806+104A>C | |
| NM_001104.4:c.1677+104A>C MANE Select | NP_001095.2:n.1677+104A>C | |
| NM_001258371.3:c.1806+104A>C | NP_001245300.2:n.1806+104A>C |