HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151867T>C , CM000681.2:g.55151867T>C | GRCh38 |
NC_000019.9:g.55663235T>C , CM000681.1:g.55663235T>C | GRCh37 |
NC_000019.8:g.60355047T>C | NCBI36 |
NG_007866.2:g.10866A>G , LRG_432:g.10866A>G | |
NG_011829.2:g.2372A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.600A>G MANE Select | ENSP00000341838.5:p.Gly200= | |
ENST00000665070.1:c.633A>G | ENSP00000499482.1:p.Gly211= | |
ENST00000344887.9:c.600A>G | ENSP00000341838.5:p.Gly200= | |
ENST00000585806.5:n.599A>G | ||
ENST00000588882.1:c.525A>G | ENSP00000466729.1:p.Gly175= | |
ENST00000589864.1:n.428A>G | ||
NM_000363.4:c.600A>G , LRG_432t1:c.600A>G | NP_000354.4:p.Gly200= | |
NM_000363.5:c.600A>G MANE Select | NP_000354.4:p.Gly200= |