Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147383114G= , CM000663.2:g.147383114G= | GRCh38 |
| NC_000001.10:g.146854836G= , CM000663.1:g.146854836G= | GRCh37 |
| NC_000001.9:g.145321460G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038423.2:n.2450C= |