HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89285239T>A , CM000673.2:g.89285239T>A | GRCh38 |
NC_000011.9:g.89018407T>A , CM000673.1:g.89018407T>A | GRCh37 |
NC_000011.8:g.88658055T>A | NCBI36 |
NG_008748.1:g.112368T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.1366+285T>A MANE Select | ENSP00000263321.4:n.1366+285T>A | |
ENST00000263321.5:c.1366+285T>A | ENSP00000263321.4:n.1366+285T>A | |
ENST00000528243.1:n.364+285T>A | ||
NM_000372.4:c.1366+285T>A | NP_000363.1:n.1366+285T>A | |
XM_011542970.1:c.1366+285T>A | XP_011541272.1:n.1366+285T>A | |
XM_011542970.2:c.1366+285T>A | XP_011541272.1:n.1366+285T>A | |
XR_001748321.1:n.2456+795A>T | ||
XR_001748322.1:n.2457+795A>T | ||
NM_000372.5:c.1366+285T>A MANE Select | NP_000363.1:n.1366+285T>A |