Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34319426C>A , CM000679.2:g.34319426C>A | GRCh38 |
| NC_000017.10:g.32646445C>A , CM000679.1:g.32646445C>A | GRCh37 |
| NC_000017.9:g.29670558C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005623.2:c.-76C>A | NP_005614.2:n.-76C>A |
| ENST00000394620.1:c.-76C>A | ENSP00000378118.1:n.-76C>A |