HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435539A>G , CM000672.2:g.70435539A>G | GRCh38 |
NC_000010.10:g.72195295A>G , CM000672.1:g.72195295A>G | GRCh37 |
NC_000010.9:g.71865301A>G | NCBI36 |
NG_012448.1:g.11171T>C | |
NG_012448.2:g.17410T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.638T>C MANE Select | ENSP00000287139.3:p.Leu213Pro | |
ENST00000287139.7:c.638T>C | ENSP00000287139.3:p.Leu213Pro | |
ENST00000414871.1:c.473T>C | ENSP00000394468.1:p.Leu158Pro | |
NM_018055.4:c.638T>C | NP_060525.3:p.Leu213Pro | |
NM_001329906.1:c.239T>C | NP_001316835.1:p.Leu80Pro | |
XM_024448028.1:c.239T>C | XP_024303796.1:p.Leu80Pro | |
NM_018055.5:c.638T>C MANE Select | NP_060525.3:p.Leu213Pro | |
NM_001329906.2:c.239T>C | NP_001316835.1:p.Leu80Pro |