HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21174598T>G , CM000674.2:g.21174598T>G | GRCh38 |
NC_000012.11:g.21327532T>G , CM000674.1:g.21327532T>G | GRCh37 |
NC_000012.10:g.21218799T>G | NCBI36 |
NG_011745.1:g.48405T>G , LRG_1022:g.48405T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.248T>G MANE Select | ENSP00000256958.2:p.Phe83Cys | |
ENST00000256958.2:c.248T>G | ENSP00000256958.2:p.Phe83Cys | |
ENST00000543498.5:c.426-2178T>G | ||
NM_006446.4:c.248T>G , LRG_1022t1:c.248T>G | NP_006437.3:p.Phe83Cys | |
NM_006446.5:c.248T>G MANE Select | NP_006437.3:p.Phe83Cys |