HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420694T>G , CM000666.2:g.99420694T>G | GRCh38 |
NC_000004.11:g.100341851T>G , CM000666.1:g.100341851T>G | GRCh37 |
NC_000004.10:g.100560874T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.664A>C MANE Select | ENSP00000414254.2:p.Ile222Leu | |
ENST00000209665.8:c.700A>C | ENSP00000209665.4:p.Ile234Leu | |
ENST00000437033.6:c.664A>C | ENSP00000414254.2:p.Ile222Leu | |
ENST00000476959.5:c.724A>C | ENSP00000420269.1:p.Ile242Leu | |
ENST00000482593.5:c.493A>C | ENSP00000420613.1:p.Ile165Leu | |
NM_000673.4:c.700A>C | NP_000664.2:p.Ile234Leu | |
NM_001166504.1:c.724A>C | NP_001159976.1:p.Ile242Leu | |
NM_000673.7:c.664A>C MANE Select | NP_000664.3:p.Ile222Leu | |
NM_001166504.2:c.724A>C | NP_001159976.1:p.Ile242Leu |