HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47284658A>C , CM000679.2:g.47284658A>C | GRCh38 |
NC_000017.10:g.45362024A>C , CM000679.1:g.45362024A>C | GRCh37 |
NC_000017.9:g.42717023A>C | NCBI36 |
NG_008332.2:g.35817A>C , LRG_481:g.35817A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.577A>C | ENSP00000513002.1:p.Ile193Leu | |
ENST00000559488.7:c.577A>C MANE Select | ENSP00000452786.2:p.Ile193Leu | |
ENST00000559488.5:c.577A>C | ENSP00000452786.1:p.Ile193Leu | |
ENST00000560629.1:c.542A>C | ||
ENST00000571680.1:c.577A>C | ENSP00000461626.1:p.Ile193Leu | |
NM_000212.2:c.577A>C , LRG_481t1:c.577A>C | NP_000203.2:p.Ile193Leu | |
NM_000212.3:c.577A>C MANE Select | NP_000203.2:p.Ile193Leu |