Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71784678C>T , CM000666.2:g.71784678C>T | GRCh38 |
| NC_000004.11:g.72650395C>T , CM000666.1:g.72650395C>T | GRCh37 |
| NC_000004.10:g.72869259C>T | NCBI36 |
| NG_012837.2:g.25843G>A | |
| NG_012837.3:g.25843G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504199.5:c.22-624G>A | ENSP00000421725.1:n.22-624G>A | |
| ENST00000506245.1:c.-36-624G>A | ENSP00000426718.1:n.-36-624G>A | |
| NM_001204306.1:c.-36-624G>A | NP_001191235.1:n.-36-624G>A | |
| NM_001204307.1:c.22-624G>A | NP_001191236.1:n.22-624G>A |