HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652285C>T , CM000663.2:g.171652285C>T | GRCh38 |
NC_000001.10:g.171621425C>T , CM000663.1:g.171621425C>T | GRCh37 |
NC_000001.9:g.169888048C>T | NCBI36 |
NG_008859.1:g.5349G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.327G>A MANE Select | ENSP00000037502.5:p.Arg109= | |
ENST00000638471.1:c.130+197G>A | ENSP00000491206.1:n.130+197G>A | |
ENST00000037502.10:c.327G>A | ENSP00000037502.5:p.Arg109= | |
ENST00000614688.1:c.327G>A | ENSP00000478680.1:p.Arg109= | |
NM_000261.1:c.327G>A | NP_000252.1:p.Arg109= | |
NM_000261.2:c.327G>A MANE Select | NP_000252.1:p.Arg109= |