HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47343147T>G , CM000673.2:g.47343147T>G | GRCh38 |
NC_000011.9:g.47364698T>G , CM000673.1:g.47364698T>G | GRCh37 |
NC_000011.8:g.47321274T>G | NCBI36 |
NG_007667.1:g.14556A>C , LRG_386:g.14556A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.1227-2A>C MANE Select | ENSP00000442795.1:n.1227-2A>C | |
ENST00000256993.8:c.1225A>C | ENSP00000256993.5:p.Arg409= | |
ENST00000399249.6:c.1227-2A>C | ENSP00000382193.2:n.1227-2A>C | |
ENST00000544791.1:c.1227-2A>C | ENSP00000444259.1:n.1227-2A>C | |
ENST00000545968.5:c.1227-2A>C | ENSP00000442795.1:n.1227-2A>C | |
NM_000256.3:c.1227-2A>C , LRG_386t1:c.1227-2A>C MANE Select | NP_000247.2:n.1227-2A>C | |
XM_011520117.1:c.1209-2A>C | XP_011518419.1:n.1209-2A>C | |
XM_011520118.1:c.1227-2A>C | XP_011518420.1:n.1227-2A>C |