HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12778116A>C , CM000686.2:g.12778116A>C | GRCh38 |
NC_000024.9:g.14890050A>C , CM000686.1:g.14890050A>C | GRCh37 |
NC_000024.8:g.13399444A>C | NCBI36 |
NG_008311.1:g.81891A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.2737A>C | ENSP00000498372.1:p.Ile913Leu | |
ENST00000338981.7:c.2737A>C MANE Select | ENSP00000342812.3:p.Ile913Leu | |
ENST00000426564.6:n.2749A>C | ||
NM_004654.3:c.2737A>C | NP_004645.2:p.Ile913Leu | |
XM_011531469.1:c.2737A>C | XP_011529771.1:p.Ile913Leu | |
XM_011531470.1:c.2503A>C | XP_011529772.1:p.Ile835Leu | |
XM_017030078.2:c.2752A>C | XP_016885567.1:p.Ile918Leu | |
NM_004654.4:c.2737A>C MANE Select | NP_004645.2:p.Ile913Leu |