HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57569416G>C , CM000674.2:g.57569416G>C | GRCh38 |
NC_000012.11:g.57963199G>C , CM000674.1:g.57963199G>C | GRCh37 |
NC_000012.10:g.56249466G>C | NCBI36 |
NG_008155.1:g.24353G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000455537.7:c.968+12G>C MANE Select | ENSP00000408979.2:n.968+12G>C | |
ENST00000674619.1:c.968+12G>C | ENSP00000502270.1:n.968+12G>C | |
ENST00000676081.1:n.114+12G>C | ||
ENST00000676457.1:c.863+12G>C | ENSP00000501588.1:n.863+12G>C | |
ENST00000286452.5:c.701+12G>C | ENSP00000286452.5:n.701+12G>C | |
ENST00000455537.6:c.968+12G>C | ENSP00000408979.2:n.968+12G>C | |
NM_004984.2:c.968+12G>C | NP_004975.2:n.968+12G>C | |
NM_001354705.1:c.701+12G>C | NP_001341634.1:n.701+12G>C | |
NM_004984.3:c.968+12G>C | NP_004975.2:n.968+12G>C | |
XR_002957324.1:n.1201+12G>C | ||
NM_004984.4:c.968+12G>C MANE Select | NP_004975.2:n.968+12G>C | |
NM_001354705.2:c.701+12G>C | NP_001341634.1:n.701+12G>C |