Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659107A>G , CM000675.2:g.28659107A>G | GRCh38 |
| NC_000013.10:g.29233244A>G , CM000675.1:g.29233244A>G | GRCh37 |
| NC_000013.9:g.28131244A>G | NCBI36 |
| NG_027550.1:g.5104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-163A>G | ENSP00000513414.1:n.-163A>G | |
| ENST00000380842.4:c.-78A>G | ENSP00000370222.4:n.-78A>G | |
| ENST00000460403.1:n.4A>G | ||
| NM_015932.5:c.-78A>G | NP_057016.1:n.-78A>G |