HGVS | Genome Assembly |
---|---|
NC_000012.12:g.129161957T>C , CM000674.2:g.129161957T>C | GRCh38 |
NC_000012.11:g.129646502T>C , CM000674.1:g.129646502T>C | GRCh37 |
NC_000012.10:g.128212455T>C | NCBI36 |
NG_052808.1:g.746711A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000422113.7:c.1443+47563A>G MANE Select | ENSP00000408581.2:n.1443+47563A>G | |
ENST00000422113.6:c.1443+47563A>G | ENSP00000408581.2:n.1443+47563A>G | |
ENST00000619366.1:c.1383+47563A>G | ENSP00000478824.1:n.1383+47563A>G | |
NM_133448.2:c.1443+47563A>G | NP_597705.2:n.1443+47563A>G | |
XM_011537894.1:c.1296+47563A>G | XP_011536196.1:n.1296+47563A>G | |
NM_133448.3:c.1443+47563A>G MANE Select | NP_597705.2:n.1443+47563A>G |