Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71784674C>G , CM000666.2:g.71784674C>G | GRCh38 |
| NC_000004.11:g.72650391C>G , CM000666.1:g.72650391C>G | GRCh37 |
| NC_000004.10:g.72869255C>G | NCBI36 |
| NG_012837.2:g.25847G>C | |
| NG_012837.3:g.25847G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504199.5:c.22-620G>C | ENSP00000421725.1:n.22-620G>C | |
| ENST00000506245.1:c.-36-620G>C | ENSP00000426718.1:n.-36-620G>C | |
| NM_001204306.1:c.-36-620G>C | NP_001191235.1:n.-36-620G>C | |
| NM_001204307.1:c.22-620G>C | NP_001191236.1:n.22-620G>C |