HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112834786C>T , CM000664.2:g.112834786C>T | GRCh38 |
NC_000002.11:g.113592363C>T , CM000664.1:g.113592363C>T | GRCh37 |
NC_000002.10:g.113308834C>T | NCBI36 |
NG_008851.1:g.6994G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263341.7:c.99+780G>A MANE Select | ENSP00000263341.2:n.99+780G>A | |
ENST00000263341.6:c.99+780G>A | ENSP00000263341.2:n.99+780G>A | |
ENST00000416750.1:c.99+780G>A | ENSP00000400854.1:n.99+780G>A | |
ENST00000418817.5:c.99+780G>A | ENSP00000407219.1:n.99+780G>A | |
ENST00000432018.5:c.99+780G>A | ENSP00000409680.1:n.99+780G>A | |
ENST00000491056.5:n.649+780G>A | ||
ENST00000496280.5:n.186+780G>A | ||
NM_000576.2:c.99+780G>A | NP_000567.1:n.99+780G>A | |
XM_006712496.1:c.-393+780G>A | XP_006712559.1:n.-393+780G>A | |
XM_017003988.2:c.6+780G>A | XP_016859477.1:n.6+780G>A | |
NM_000576.3:c.99+780G>A MANE Select | NP_000567.1:n.99+780G>A |