HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18785712A>G , CM000681.2:g.18785712A>G | GRCh38 |
NC_000019.9:g.18896522A>G , CM000681.1:g.18896522A>G | GRCh37 |
NC_000019.8:g.18757522A>G | NCBI36 |
NG_007070.1:g.10593T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222271.7:c.1629T>C MANE Select | ENSP00000222271.2:p.Gly543= | |
ENST00000222271.6:c.1629T>C | ENSP00000222271.2:p.Gly543= | |
ENST00000425807.1:c.1470T>C | ENSP00000403792.1:p.Gly490= | |
ENST00000542601.6:c.1530T>C | ENSP00000439156.2:p.Gly510= | |
NM_000095.2:c.1629T>C | NP_000086.2:p.Gly543= | |
NM_000095.3:c.1629T>C MANE Select | NP_000086.2:p.Gly543= |