HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47335216G>C , CM000673.2:g.47335216G>C | GRCh38 |
NC_000011.9:g.47356767G>C , CM000673.1:g.47356767G>C | GRCh37 |
NC_000011.8:g.47313343G>C | NCBI36 |
NG_007667.1:g.22487C>G , LRG_386:g.22487C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.2738-7C>G MANE Select | ENSP00000442795.1:n.2738-7C>G | |
ENST00000256993.8:c.2738-7C>G | ENSP00000256993.5:n.2738-7C>G | |
ENST00000399249.6:c.2738-7C>G | ENSP00000382193.2:n.2738-7C>G | |
ENST00000545968.5:c.2738-7C>G | ENSP00000442795.1:n.2738-7C>G | |
NM_000256.3:c.2738-7C>G , LRG_386t1:c.2738-7C>G MANE Select | NP_000247.2:n.2738-7C>G | |
XM_011520117.1:c.2720-7C>G | XP_011518419.1:n.2720-7C>G | |
XM_011520118.1:c.2657-7C>G | XP_011518420.1:n.2657-7C>G |