Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903702T>C , CM000663.2:g.173903702T>C | GRCh38 |
| NC_000001.10:g.173872840T>C , CM000663.1:g.173872840T>C | GRCh37 |
| NC_000001.9:g.172139463T>C | NCBI36 |
| NG_012462.1:g.18677A>G , LRG_577:g.18677A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001365052.1:c.*187A>G | NP_001351981.1:n.*187A>G |