HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67932051T>G , CM000666.2:g.67932051T>G | GRCh38 |
NC_000004.11:g.68797769T>G , CM000666.1:g.68797769T>G | GRCh37 |
NC_000004.10:g.68480364T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000508048.6:c.262A>C MANE Select | ENSP00000426911.2:p.Ile88Leu | |
ENST00000334830.11:c.271A>C | ENSP00000334611.7:p.Ile91Leu | |
ENST00000396188.3:c.262A>C | ENSP00000379491.3:p.Ile88Leu | |
ENST00000508048.5:c.262A>C | ENSP00000426911.2:p.Ile88Leu | |
ENST00000513536.5:c.202A>C | ENSP00000427621.1:p.Ile68Leu | |
NM_001114387.1:c.262A>C | NP_001107859.1:p.Ile88Leu | |
NM_182606.3:c.271A>C | NP_872412.3:p.Ile91Leu | |
NM_001114387.2:c.262A>C MANE Select | NP_001107859.1:p.Ile88Leu | |
NM_182606.4:c.271A>C | NP_872412.3:p.Ile91Leu |