HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50244371C>T , CM000684.2:g.50244371C>T | GRCh38 |
NC_000022.10:g.50682800C>T , CM000684.1:g.50682800C>T | GRCh37 |
NC_000022.9:g.49024927C>T | NCBI36 |
NG_029758.1:g.12035G>A | |
NG_032160.1:g.5601G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000248846.10:c.89G>A MANE Select | ENSP00000248846.5:p.Arg30Gln | |
ENST00000248846.9:c.89G>A | ENSP00000248846.5:p.Arg30Gln | |
ENST00000439308.6:c.89G>A | ENSP00000397387.2:p.Arg30Gln | |
ENST00000498611.5:n.622G>A | ||
NM_020461.3:c.89G>A | NP_065194.2:p.Arg30Gln | |
XR_938347.1:n.654G>A | ||
XR_938348.1:n.654G>A | ||
XR_001755343.2:n.658G>A | ||
XR_001755344.2:n.658G>A | ||
XR_002958720.1:n.658G>A | ||
XR_938347.2:n.658G>A | ||
NM_020461.4:c.89G>A MANE Select | NP_065194.3:p.Arg30Gln |