HGVS | Genome Assembly |
---|---|
NC_000007.14:g.28149464T>G , CM000669.2:g.28149464T>G | GRCh38 |
NC_000007.13:g.28189083T>G , CM000669.1:g.28189083T>G | GRCh37 |
NC_000007.12:g.28155608T>G | NCBI36 |
NG_011499.1:g.36355A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000283928.10:c.115+30999A>C MANE Select | ENSP00000283928.5:n.115+30999A>C | |
ENST00000649905.1:c.115+30999A>C | ENSP00000497321.1:n.115+30999A>C | |
ENST00000283928.9:c.115+30999A>C | ENSP00000283928.5:n.115+30999A>C | |
ENST00000452993.5:c.115+30999A>C | ENSP00000415984.1:n.115+30999A>C | |
ENST00000454041.1:c.115+30999A>C | ENSP00000399083.1:n.115+30999A>C | |
NM_175061.3:c.115+30999A>C | NP_778231.2:n.115+30999A>C | |
XM_006715656.1:c.-140+30999A>C | XP_006715719.1:n.-140+30999A>C | |
XR_926924.1:n.230+30999A>C | ||
NM_175061.4:c.115+30999A>C MANE Select | NP_778231.2:n.115+30999A>C |