HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73901430G>A , CM000664.2:g.73901430G>A | GRCh38 |
NC_000002.11:g.74128557G>A , CM000664.1:g.74128557G>A | GRCh37 |
NC_000002.10:g.73982065G>A | NCBI36 |
NG_034140.1:g.13465G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345517.8:c.119G>A MANE Select | ENSP00000295137.3:p.Arg40His | |
ENST00000345517.7:c.119G>A | ENSP00000295137.3:p.Arg40His | |
ENST00000409624.1:c.119G>A | ENSP00000386857.1:p.Arg40His | |
ENST00000409731.7:c.119G>A | ENSP00000386929.3:p.Arg40His | |
ENST00000409918.5:c.119G>A | ENSP00000387182.1:p.Arg40His | |
ENST00000429756.5:c.119G>A | ENSP00000392894.1:p.Arg40His | |
ENST00000438902.6:c.119G>A | ENSP00000410706.2:p.Arg40His | |
ENST00000442912.5:c.119G>A | ENSP00000410020.1:p.Arg40His | |
ENST00000468543.5:n.199G>A | ||
ENST00000473016.1:n.256G>A | ||
NM_001199893.1:c.119G>A | NP_001186822.1:p.Arg40His | |
NM_001615.3:c.119G>A | NP_001606.1:p.Arg40His | |
NM_001199893.2:c.119G>A | NP_001186822.1:p.Arg40His | |
NM_001615.4:c.119G>A MANE Select | NP_001606.1:p.Arg40His |