HGVS | Genome Assembly |
---|---|
NC_000003.12:g.196487562C>T , CM000665.2:g.196487562C>T | GRCh38 |
NC_000003.11:g.196214433C>T , CM000665.1:g.196214433C>T | GRCh37 |
NC_000003.10:g.197698830C>T | NCBI36 |
NG_023425.1:g.21207G>A , LRG_185:g.21207G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318037.3:c.395G>A MANE Select | ENSP00000320898.3:p.Arg132Gln | |
ENST00000437070.1:c.318G>A | ENSP00000396712.1:p.Thr106= | |
NM_152617.3:c.395G>A , LRG_185t1:c.395G>A | NP_689830.2:p.Arg132Gln | |
NM_152617.4:c.395G>A MANE Select | NP_689830.2:p.Arg132Gln |