Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220837215G>A , CM000663.2:g.220837215G>A | GRCh38 |
| NC_000001.10:g.221010557G>A , CM000663.1:g.221010557G>A | GRCh37 |
| NC_000001.9:g.219077180G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.842+31941G>A | ENSP00000499157.1:n.842+31941G>A | |
| NR_046901.1:n.293-4023C>T |