HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154282T>G , CM000681.2:g.55154282T>G | GRCh38 |
NC_000019.9:g.55665650T>G , CM000681.1:g.55665650T>G | GRCh37 |
NC_000019.8:g.60357462T>G | NCBI36 |
NG_007866.2:g.8451A>C , LRG_432:g.8451A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.373-76A>C MANE Select | ENSP00000341838.5:n.373-76A>C | |
ENST00000665070.1:c.406-76A>C | ENSP00000499482.1:n.406-76A>C | |
ENST00000344887.9:c.373-76A>C | ENSP00000341838.5:n.373-76A>C | |
ENST00000585806.5:n.372-76A>C | ||
ENST00000586669.5:n.381-76A>C | ||
ENST00000588882.1:c.298-76A>C | ENSP00000466729.1:n.298-76A>C | |
ENST00000589864.1:n.125A>C | ||
NM_000363.4:c.373-76A>C , LRG_432t1:c.373-76A>C | NP_000354.4:n.373-76A>C | |
NM_000363.5:c.373-76A>C MANE Select | NP_000354.4:n.373-76A>C |