HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74411588T>G , CM000677.2:g.74411588T>G | GRCh38 |
NC_000015.9:g.74703929T>G , CM000677.1:g.74703929T>G | GRCh37 |
NC_000015.8:g.72490982T>G | NCBI36 |
NG_011733.1:g.27371A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261918.9:c.1545A>C MANE Select | ENSP00000261918.4:p.Gln515His | |
ENST00000542748.6:c.1050A>C | ENSP00000441493.1:p.Gln350His | |
ENST00000261918.8:c.1545A>C | ENSP00000261918.4:p.Gln515His | |
ENST00000542748.5:c.1050A>C | ENSP00000441493.1:p.Gln350His | |
ENST00000543145.6:c.1503A>C | ENSP00000438966.2:p.Gln501His | |
ENST00000569617.1:n.52A>C | ||
NM_001146029.1:c.1503A>C | NP_001139501.1:p.Gln501His | |
NM_001146030.1:c.1050A>C | NP_001139502.1:p.Gln350His | |
NM_003612.3:c.1545A>C | NP_003603.1:p.Gln515His | |
NM_001146029.2:c.1503A>C | NP_001139501.1:p.Gln501His | |
NM_001146030.2:c.1050A>C | NP_001139502.1:p.Gln350His | |
NM_003612.4:c.1545A>C | NP_003603.1:p.Gln515His | |
NM_003612.5:c.1545A>C MANE Select | NP_003603.1:p.Gln515His | |
NM_001146029.3:c.1503A>C | NP_001139501.1:p.Gln501His | |
NM_001146030.3:c.1050A>C | NP_001139502.1:p.Gln350His |