Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71784797C>A , CM000666.2:g.71784797C>A | GRCh38 |
| NC_000004.11:g.72650514C>A , CM000666.1:g.72650514C>A | GRCh37 |
| NC_000004.10:g.72869378C>A | NCBI36 |
| NG_012837.2:g.25724G>T | |
| NG_012837.3:g.25724G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504199.5:c.22-743G>T | ENSP00000421725.1:n.22-743G>T | |
| ENST00000506245.1:c.-36-743G>T | ENSP00000426718.1:n.-36-743G>T | |
| NM_001204306.1:c.-36-743G>T | NP_001191235.1:n.-36-743G>T | |
| NM_001204307.1:c.22-743G>T | NP_001191236.1:n.22-743G>T |