HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154740C>G , CM000681.2:g.55154740C>G | GRCh38 |
NC_000019.9:g.55666108C>G , CM000681.1:g.55666108C>G | GRCh37 |
NC_000019.8:g.60357920C>G | NCBI36 |
NG_007866.2:g.7993G>C , LRG_432:g.7993G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.372+1G>C MANE Select | ENSP00000341838.5:n.372+1G>C | |
ENST00000665070.1:c.373G>C | ENSP00000499482.1:p.Val125Leu | |
ENST00000344887.9:c.372+1G>C | ENSP00000341838.5:n.372+1G>C | |
ENST00000585806.5:n.371+1G>C | ||
ENST00000586669.5:n.380+1G>C | ||
ENST00000587176.5:n.557G>C | ||
ENST00000588882.1:c.297+1G>C | ENSP00000466729.1:n.297+1G>C | |
NM_000363.4:c.372+1G>C , LRG_432t1:c.372+1G>C | NP_000354.4:n.372+1G>C | |
NM_000363.5:c.372+1G>C MANE Select | NP_000354.4:n.372+1G>C |