HGVS | Genome Assembly |
---|---|
NC_000015.10:g.66703335G>T , CM000677.2:g.66703335G>T | GRCh38 |
NC_000015.9:g.66995673G>T , CM000677.1:g.66995673G>T | GRCh37 |
NC_000015.8:g.64782727G>T | NCBI36 |
NG_012244.1:g.6000G>T | |
NG_012244.2:g.6000G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288840.10:c.77G>T MANE Select | ENSP00000288840.5:p.Gly26Val | |
ENST00000288840.9:c.77G>T | ENSP00000288840.5:p.Gly26Val | |
ENST00000557916.5:c.77G>T | ENSP00000452955.1:p.Gly26Val | |
ENST00000612349.1:n.259G>T | ||
NM_005585.4:c.77G>T | NP_005576.3:p.Gly26Val | |
NR_027654.1:n.1000G>T | ||
XR_931825.1:n.1236G>T | ||
XR_931826.1:n.1236G>T | ||
XR_931827.1:n.1236G>T | ||
XR_931827.2:n.1226G>T | ||
NM_005585.5:c.77G>T MANE Select | NP_005576.3:p.Gly26Val | |
NR_027654.2:n.1100G>T |