HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52033466T>G , CM000666.2:g.52033466T>G | GRCh38 |
NC_000004.11:g.52899632T>G , CM000666.1:g.52899632T>G | GRCh37 |
NC_000004.10:g.52594389T>G | NCBI36 |
NG_008891.1:g.9854A>C , LRG_204:g.9854A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.208A>C MANE Select | ENSP00000370839.6:p.Ile70Leu | |
ENST00000381431.9:c.208A>C | ENSP00000370839.5:p.Ile70Leu | |
ENST00000506357.5:c.194A>C | ||
ENST00000514133.1:c.175A>C | ENSP00000425818.1:p.Ile59Leu | |
NM_000232.4:c.208A>C , LRG_204t1:c.208A>C | NP_000223.1:p.Ile70Leu | |
XM_006714049.2:c.-200A>C | XP_006714112.1:n.-200A>C | |
XM_011534403.1:c.34-3603A>C | XP_011532705.1:n.34-3603A>C | |
XM_011534404.1:c.-177A>C | XP_011532706.1:n.-177A>C | |
NM_000232.5:c.208A>C MANE Select | NP_000223.1:p.Ile70Leu |