HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189004257G>C , CM000664.2:g.189004257G>C | GRCh38 |
NC_000002.11:g.189868983G>C , CM000664.1:g.189868983G>C | GRCh37 |
NC_000002.10:g.189577228G>C | NCBI36 |
NG_007404.1:g.34885G>C , LRG_3:g.34885G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2725G>C | ENSP00000415346.2:p.Gly909Arg | |
ENST00000304636.9:c.2824G>C MANE Select | ENSP00000304408.4:p.Gly942Arg | |
ENST00000304636.7:c.2824G>C | ENSP00000304408.3:p.Gly942Arg | |
ENST00000317840.9:c.2527+1221G>C | ENSP00000315243.6:n.2527+1221G>C | |
NM_000090.3:c.2824G>C , LRG_3t1:c.2824G>C | NP_000081.1:p.Gly942Arg | |
NM_000090.4:c.2824G>C MANE Select | NP_000081.2:p.Gly942Arg |