HGVS | Genome Assembly |
---|---|
NC_000001.11:g.173903642T>C , CM000663.2:g.173903642T>C | GRCh38 |
NC_000001.10:g.173872780T>C , CM000663.1:g.173872780T>C | GRCh37 |
NC_000001.9:g.172139403T>C | NCBI36 |
NG_012462.1:g.18737A>G , LRG_577:g.18737A>G |
HGVS | Amino-acid Change | |
---|---|---|
NM_001365052.1:c.*247A>G | NP_001351981.1:n.*247A>G |