Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106932788C>G , CM000666.2:g.106932788C>G | GRCh38 |
| NC_000004.11:g.107853945C>G , CM000666.1:g.107853945C>G | GRCh37 |
| NC_000004.10:g.108073394C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285311.8:c.223-6839G>C MANE Select | ENSP00000285311.3:n.223-6839G>C | |
| ENST00000285311.7:c.223-6839G>C | ENSP00000285311.3:n.223-6839G>C | |
| ENST00000510463.1:c.85-6839G>C | ENSP00000423797.1:n.85-6839G>C | |
| ENST00000510534.1:n.444-6839G>C | ||
| ENST00000513208.5:c.-78-6839G>C | ENSP00000421255.1:n.-78-6839G>C | |
| NM_014421.2:c.223-6839G>C | NP_055236.1:n.223-6839G>C | |
| NM_014421.3:c.223-6839G>C MANE Select | NP_055236.1:n.223-6839G>C |