HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42903851C>A , CM000679.2:g.42903851C>A | GRCh38 |
NC_000017.10:g.41055868C>A , CM000679.1:g.41055868C>A | GRCh37 |
NC_000017.9:g.38309394C>A | NCBI36 |
NG_011808.1:g.8054C>A , LRG_147:g.8054C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253801.7:c.231-80C>A MANE Select | ENSP00000253801.1:n.231-80C>A | |
ENST00000253801.6:c.231-80C>A | ENSP00000253801.1:n.231-80C>A | |
ENST00000585489.1:c.231-80C>A | ENSP00000466202.1:n.231-80C>A | |
ENST00000588481.1:n.296-80C>A | ||
ENST00000592383.5:c.231-80C>A | ENSP00000465958.1:n.231-80C>A | |
NM_000151.3:c.231-80C>A | NP_000142.2:n.231-80C>A | |
NM_001270397.1:c.231-80C>A | NP_001257326.1:n.231-80C>A | |
NM_000151.4:c.231-80C>A MANE Select | NP_000142.2:n.231-80C>A | |
NM_001270397.2:c.231-80C>A | NP_001257326.1:n.231-80C>A |