HGVS | Genome Assembly |
---|---|
NC_000001.11:g.173903639C>T , CM000663.2:g.173903639C>T | GRCh38 |
NC_000001.10:g.173872777C>T , CM000663.1:g.173872777C>T | GRCh37 |
NC_000001.9:g.172139400C>T | NCBI36 |
NG_012462.1:g.18740G>A , LRG_577:g.18740G>A |
HGVS | Amino-acid Change | |
---|---|---|
NM_001365052.1:c.*250G>A | NP_001351981.1:n.*250G>A |