HGVS | Genome Assembly |
---|---|
NC_000004.12:g.42962957G>C , CM000666.2:g.42962957G>C | GRCh38 |
NC_000004.11:g.42964974G>C , CM000666.1:g.42964974G>C | GRCh37 |
NC_000004.10:g.42659731G>C | NCBI36 |
NG_027718.1:g.74692G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399770.3:c.450G>C MANE Select | ENSP00000382670.2:p.Arg150= | |
ENST00000399770.2:c.450G>C | ENSP00000382670.2:p.Arg150= | |
NM_001080476.2:c.450G>C | NP_001073945.1:p.Arg150= | |
XM_011513691.1:c.87G>C | XP_011511993.1:p.Arg29= | |
NM_001080476.3:c.450G>C MANE Select | NP_001073945.1:p.Arg150= |