HGVS | Genome Assembly |
---|---|
NC_000003.12:g.196487467T>G , CM000665.2:g.196487467T>G | GRCh38 |
NC_000003.11:g.196214338T>G , CM000665.1:g.196214338T>G | GRCh37 |
NC_000003.10:g.197698735T>G | NCBI36 |
NG_023425.1:g.21302A>C , LRG_185:g.21302A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318037.3:c.490A>C MANE Select | ENSP00000320898.3:p.Arg164= | |
ENST00000437070.1:c.*62A>C | ENSP00000396712.1:n.*62A>C | |
NM_152617.3:c.490A>C , LRG_185t1:c.490A>C | NP_689830.2:p.Arg164= | |
NM_152617.4:c.490A>C MANE Select | NP_689830.2:p.Arg164= |