HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73929879G>A , CM000677.2:g.73929879G>A | GRCh38 |
NC_000015.9:g.74222220G>A , CM000677.1:g.74222220G>A | GRCh37 |
NC_000015.8:g.72009273G>A | NCBI36 |
NG_011466.1:g.8432G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261921.8:c.1102+1994G>A MANE Select | ENSP00000261921.7:n.1102+1994G>A | |
ENST00000261921.7:c.1102+1994G>A | ENSP00000261921.7:n.1102+1994G>A | |
ENST00000566011.5:c.1102+1994G>A | ENSP00000457827.1:n.1102+1994G>A | |
NM_005576.2:c.1102+1994G>A | NP_005567.2:n.1102+1994G>A | |
XM_011521555.1:c.1102+1994G>A | XP_011519857.1:n.1102+1994G>A | |
XR_931824.1:n.1435+1994G>A | ||
NM_005576.3:c.1102+1994G>A | NP_005567.2:n.1102+1994G>A | |
XM_011521555.2:c.1102+1994G>A | XP_011519857.1:n.1102+1994G>A | |
XR_931824.2:n.1424+1994G>A | ||
NM_005576.4:c.1102+1994G>A MANE Select | NP_005567.2:n.1102+1994G>A |