HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435552C>G , CM000672.2:g.70435552C>G | GRCh38 |
NC_000010.10:g.72195308C>G , CM000672.1:g.72195308C>G | GRCh37 |
NC_000010.9:g.71865314C>G | NCBI36 |
NG_012448.1:g.11158G>C | |
NG_012448.2:g.17397G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.625G>C MANE Select | ENSP00000287139.3:p.Gly209Arg | |
ENST00000287139.7:c.625G>C | ENSP00000287139.3:p.Gly209Arg | |
ENST00000414871.1:c.460G>C | ENSP00000394468.1:p.Gly154Arg | |
NM_018055.4:c.625G>C | NP_060525.3:p.Gly209Arg | |
NM_001329906.1:c.226G>C | NP_001316835.1:p.Gly76Arg | |
XM_024448028.1:c.226G>C | XP_024303796.1:p.Gly76Arg | |
NM_018055.5:c.625G>C MANE Select | NP_060525.3:p.Gly209Arg | |
NM_001329906.2:c.226G>C | NP_001316835.1:p.Gly76Arg |