Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159302126C>A , CM000663.2:g.159302126C>A | GRCh38 |
| NC_000001.10:g.159271916C>A , CM000663.1:g.159271916C>A | GRCh37 |
| NC_000001.9:g.157538540C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368115.5:c.-59-180C>A | ENSP00000357097.1:n.-59-180C>A | |
| NM_002001.3:c.-59-180C>A | NP_001992.1:n.-59-180C>A | |
| NM_002001.4:c.-59-180C>A | NP_001992.1:n.-59-180C>A |