HGVS | Genome Assembly |
---|---|
NC_000003.12:g.165069114C>G , CM000665.2:g.165069114C>G | GRCh38 |
NC_000003.11:g.164786902C>G , CM000665.1:g.164786902C>G | GRCh37 |
NC_000003.10:g.166269596C>G | NCBI36 |
NG_017043.1:g.14382G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264382.8:c.337G>C MANE Select | ENSP00000264382.3:p.Gly113Arg | |
ENST00000264382.7:c.337G>C | ENSP00000264382.3:p.Gly113Arg | |
ENST00000476593.1:c.*212G>C | ENSP00000419450.1:n.*212G>C | |
NM_001041.3:c.337G>C | NP_001032.2:p.Gly113Arg | |
XM_011513078.1:c.238G>C | XP_011511380.1:p.Gly80Arg | |
XM_011513078.2:c.238G>C | XP_011511380.1:p.Gly80Arg | |
NM_001041.4:c.337G>C MANE Select | NP_001032.2:p.Gly113Arg |