HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27751041C>T , CM000684.2:g.27751041C>T | GRCh38 |
NC_000022.10:g.28147029C>T , CM000684.1:g.28147029C>T | GRCh37 |
NC_000022.9:g.26477029C>T | NCBI36 |
NG_023258.1:g.55458G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703102.1:n.362G>A | ||
ENST00000302326.5:c.3837G>A MANE Select | ENSP00000304956.4:p.Gln1279= | |
ENST00000302326.4:c.3837G>A | ENSP00000304956.4:p.Gln1279= | |
ENST00000424656.1:c.190G>A | ||
ENST00000497225.1:n.193G>A | ||
NM_002430.2:c.3837G>A | NP_002421.3:p.Gln1279= | |
NM_002430.3:c.3837G>A MANE Select | NP_002421.3:p.Gln1279= |