HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435541C>G , CM000672.2:g.70435541C>G | GRCh38 |
NC_000010.10:g.72195297C>G , CM000672.1:g.72195297C>G | GRCh37 |
NC_000010.9:g.71865303C>G | NCBI36 |
NG_012448.1:g.11169G>C | |
NG_012448.2:g.17408G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.636G>C MANE Select | ENSP00000287139.3:p.Leu212Phe | |
ENST00000287139.7:c.636G>C | ENSP00000287139.3:p.Leu212Phe | |
ENST00000414871.1:c.471G>C | ENSP00000394468.1:p.Leu157Phe | |
NM_018055.4:c.636G>C | NP_060525.3:p.Leu212Phe | |
NM_001329906.1:c.237G>C | NP_001316835.1:p.Leu79Phe | |
XM_024448028.1:c.237G>C | XP_024303796.1:p.Leu79Phe | |
NM_018055.5:c.636G>C MANE Select | NP_060525.3:p.Leu212Phe | |
NM_001329906.2:c.237G>C | NP_001316835.1:p.Leu79Phe |