HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73929794G>C , CM000677.2:g.73929794G>C | GRCh38 |
NC_000015.9:g.74222135G>C , CM000677.1:g.74222135G>C | GRCh37 |
NC_000015.8:g.72009188G>C | NCBI36 |
NG_011466.1:g.8347G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261921.8:c.1102+1909G>C MANE Select | ENSP00000261921.7:n.1102+1909G>C | |
ENST00000261921.7:c.1102+1909G>C | ENSP00000261921.7:n.1102+1909G>C | |
ENST00000566011.5:c.1102+1909G>C | ENSP00000457827.1:n.1102+1909G>C | |
NM_005576.2:c.1102+1909G>C | NP_005567.2:n.1102+1909G>C | |
XM_011521555.1:c.1102+1909G>C | XP_011519857.1:n.1102+1909G>C | |
XR_931824.1:n.1435+1909G>C | ||
NM_005576.3:c.1102+1909G>C | NP_005567.2:n.1102+1909G>C | |
XM_011521555.2:c.1102+1909G>C | XP_011519857.1:n.1102+1909G>C | |
XR_931824.2:n.1424+1909G>C | ||
NM_005576.4:c.1102+1909G>C MANE Select | NP_005567.2:n.1102+1909G>C |