Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171158257A= , CM000663.2:g.171158257A= | GRCh38 |
| NC_000001.10:g.171127396A= , CM000663.1:g.171127396A= | GRCh37 |
| NC_000001.9:g.169394020A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002601.1:n.1720-2901A= | |
| ENST00000236166.4:n.1257-2776A= | |
| ENST00000367754.3:n.1720-2901A= | |
| ENST00000633725.1:n.25-2807A= | |
| ENST00000639957.1:n.1187-2901A= | |
| XR_001738291.2:n.1391+9847T= | |
| XR_922278.1:n.592+9847T= | |
| XR_922278.3:n.1391+9847T= |