Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348813G>A , CM000685.2:g.101348813G>A | GRCh38 |
| NC_000023.10:g.100603801G>A , CM000685.1:g.100603801G>A | GRCh37 |
| NC_000023.9:g.100490457G>A | NCBI36 |
| NG_009616.1:g.42412C>T , LRG_128:g.42412C>T | |
| NG_011734.1:g.5157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.3:c.-149C>T | ENSP00000361993.3:n.-149C>T | |
| NM_004085.3:c.-149C>T | NP_004076.1:n.-149C>T |