HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50909989C>T , CM000676.2:g.50909989C>T | GRCh38 |
NC_000014.8:g.51376707C>T , CM000676.1:g.51376707C>T | GRCh37 |
NC_000014.7:g.50446457C>T | NCBI36 |
NG_012796.1:g.39542G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.2083G>A MANE Select | ENSP00000216392.7:p.Gly695Arg | |
ENST00000216392.7:c.2083G>A | ENSP00000216392.7:p.Gly695Arg | |
ENST00000532107.2:n.256G>A | ||
ENST00000532462.5:c.2083G>A | ENSP00000431657.1:p.Gly695Arg | |
ENST00000544180.6:c.1981G>A | ENSP00000443787.1:p.Gly661Arg | |
NM_001163940.1:c.1981G>A | NP_001157412.1:p.Gly661Arg | |
NM_002863.4:c.2083G>A | NP_002854.3:p.Gly695Arg | |
NM_002863.5:c.2083G>A MANE Select | NP_002854.3:p.Gly695Arg | |
NM_001163940.2:c.1981G>A | NP_001157412.1:p.Gly661Arg |