HGVS | Genome Assembly |
---|---|
NC_000002.12:g.141470940C>T , CM000664.2:g.141470940C>T | GRCh38 |
NC_000002.11:g.142228509C>T , CM000664.1:g.142228509C>T | GRCh37 |
NC_000002.10:g.141944979C>T | NCBI36 |
NG_051023.1:g.666524G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389484.8:c.343+9456G>A MANE Select | ENSP00000374135.3:n.343+9456G>A | |
ENST00000389484.7:c.343+9456G>A | ENSP00000374135.3:n.343+9456G>A | |
ENST00000434794.1:c.205+339339G>A | ENSP00000413239.1:n.205+339339G>A | |
NM_018557.2:c.343+9456G>A | NP_061027.2:n.343+9456G>A | |
XM_011511352.1:c.454+9456G>A | XP_011509654.1:n.454+9456G>A | |
XR_923384.1:n.1693C>T | ||
XR_923385.1:n.1793C>T | ||
XR_923386.1:n.624-97C>T | ||
XM_017004341.1:c.-48+9456G>A | XP_016859830.1:n.-48+9456G>A | |
XR_001738778.1:n.2077+9456G>A | ||
NM_018557.3:c.343+9456G>A MANE Select | NP_061027.2:n.343+9456G>A |