HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149977995G>C , CM000667.2:g.149977995G>C | GRCh38 |
NC_000005.9:g.149357558G>C , CM000667.1:g.149357558G>C | GRCh37 |
NC_000005.8:g.149337751G>C | NCBI36 |
NG_007147.2:g.19113G>C , LRG_684:g.19113G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.575G>C | ||
ENST00000286298.5:c.343G>C MANE Select | ENSP00000286298.4:p.Gly115Arg | |
ENST00000286298.4:c.343G>C | ENSP00000286298.4:p.Gly115Arg | |
ENST00000503336.1:c.16G>C | ENSP00000426053.1:p.Gly6Arg | |
NM_000112.3:c.343G>C , LRG_684t1:c.343G>C | NP_000103.2:p.Gly115Arg | |
XM_017009191.2:c.343G>C | XP_016864680.1:p.Gly115Arg | |
NM_000112.4:c.343G>C MANE Select | NP_000103.2:p.Gly115Arg |