Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903708C>T , CM000663.2:g.173903708C>T | GRCh38 |
| NC_000001.10:g.173872846C>T , CM000663.1:g.173872846C>T | GRCh37 |
| NC_000001.9:g.172139469C>T | NCBI36 |
| NG_012462.1:g.18671G>A , LRG_577:g.18671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001365052.1:c.*181G>A | NP_001351981.1:n.*181G>A |