HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150861310C>A , CM000669.2:g.150861310C>A | GRCh38 |
NC_000007.13:g.150558398C>A , CM000669.1:g.150558398C>A | GRCh37 |
NC_000007.12:g.150189331C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360937.9:c.*101C>A MANE Select | ENSP00000354193.4:n.*101C>A | |
ENST00000360937.8:c.*101C>A | ENSP00000354193.4:n.*101C>A | |
ENST00000467291.5:c.*101C>A | ENSP00000418328.1:n.*101C>A | |
ENST00000493429.5:c.*101C>A | ENSP00000418614.1:n.*101C>A | |
XR_928169.1:n.295+15699G>T | ||
XR_928170.1:n.425+7306G>T | ||
XR_928171.1:n.297+15699G>T | ||
XR_928169.2:n.301+15699G>T | ||
XR_928171.2:n.301+15699G>T | ||
NM_001091.4:c.*101C>A MANE Select | NP_001082.2:n.*101C>A | |
NM_001272072.2:c.*101C>A | NP_001259001.1:n.*101C>A |