Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46836997G>A , CM000685.2:g.46836997G>A | GRCh38 |
| NC_000023.10:g.46696432G>A , CM000685.1:g.46696432G>A | GRCh37 |
| NC_000023.9:g.46581376G>A | NCBI36 |
| NG_009107.1:g.5086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.3:c.-104G>A | ENSP00000218340.3:n.-104G>A | |
| NM_006915.2:c.-104G>A | NP_008846.2:n.-104G>A |