HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154780T>C , CM000681.2:g.55154780T>C | GRCh38 |
NC_000019.9:g.55666148T>C , CM000681.1:g.55666148T>C | GRCh37 |
NC_000019.8:g.60357960T>C | NCBI36 |
NG_007866.2:g.7953A>G , LRG_432:g.7953A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.333A>G MANE Select | ENSP00000341838.5:p.Arg111= | |
ENST00000665070.1:c.333A>G | ENSP00000499482.1:p.Arg111= | |
ENST00000344887.9:c.333A>G | ENSP00000341838.5:p.Arg111= | |
ENST00000585806.5:n.332A>G | ||
ENST00000586669.5:n.341A>G | ||
ENST00000587176.5:n.517A>G | ||
ENST00000587871.1:c.952A>G | ||
ENST00000588882.1:c.258A>G | ENSP00000466729.1:p.Arg86= | |
ENST00000590463.1:n.505A>G | ||
NM_000363.4:c.333A>G , LRG_432t1:c.333A>G | NP_000354.4:p.Arg111= | |
NM_000363.5:c.333A>G MANE Select | NP_000354.4:p.Arg111= |