Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868809G>A , CM000664.2:g.240868809G>A | GRCh38 |
| NC_000002.11:g.241808226G>A , CM000664.1:g.241808226G>A | GRCh37 |
| NC_000002.10:g.241456899G>A | NCBI36 |
| NG_008005.1:g.5065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-57G>A | ENSP00000302620.3:n.-57G>A | |
| NM_000030.2:c.-57G>A | NP_000021.1:n.-57G>A | |
| XR_924060.1:n.405+1424C>T |