HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154720C>G , CM000681.2:g.55154720C>G | GRCh38 |
NC_000019.9:g.55666088C>G , CM000681.1:g.55666088C>G | GRCh37 |
NC_000019.8:g.60357900C>G | NCBI36 |
NG_007866.2:g.8013G>C , LRG_432:g.8013G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.372+21G>C MANE Select | ENSP00000341838.5:n.372+21G>C | |
ENST00000665070.1:c.393G>C | ENSP00000499482.1:p.Ser131= | |
ENST00000344887.9:c.372+21G>C | ENSP00000341838.5:n.372+21G>C | |
ENST00000585806.5:n.371+21G>C | ||
ENST00000586669.5:n.380+21G>C | ||
ENST00000587176.5:n.577G>C | ||
ENST00000588882.1:c.297+21G>C | ENSP00000466729.1:n.297+21G>C | |
NM_000363.4:c.372+21G>C , LRG_432t1:c.372+21G>C | NP_000354.4:n.372+21G>C | |
NM_000363.5:c.372+21G>C MANE Select | NP_000354.4:n.372+21G>C |