HGVS | Genome Assembly |
---|---|
NC_000015.10:g.66703327G>C , CM000677.2:g.66703327G>C | GRCh38 |
NC_000015.9:g.66995665G>C , CM000677.1:g.66995665G>C | GRCh37 |
NC_000015.8:g.64782719G>C | NCBI36 |
NG_012244.1:g.5992G>C | |
NG_012244.2:g.5992G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288840.10:c.69G>C MANE Select | ENSP00000288840.5:p.Glu23Asp | |
ENST00000288840.9:c.69G>C | ENSP00000288840.5:p.Glu23Asp | |
ENST00000557916.5:c.69G>C | ENSP00000452955.1:p.Glu23Asp | |
ENST00000612349.1:n.251G>C | ||
NM_005585.4:c.69G>C | NP_005576.3:p.Glu23Asp | |
NR_027654.1:n.992G>C | ||
XR_931825.1:n.1228G>C | ||
XR_931826.1:n.1228G>C | ||
XR_931827.1:n.1228G>C | ||
XR_931827.2:n.1218G>C | ||
NM_005585.5:c.69G>C MANE Select | NP_005576.3:p.Glu23Asp | |
NR_027654.2:n.1092G>C |