HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119164324G>C , CM000666.2:g.119164324G>C | GRCh38 |
NC_000004.11:g.120085479G>C , CM000666.1:g.120085479G>C | GRCh37 |
NC_000004.10:g.120304927G>C | NCBI36 |
NG_029747.1:g.33541G>C , LRG_396:g.33541G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307128.6:c.490G>C MANE Select | ENSP00000306997.6:p.Glu164Gln | |
ENST00000307128.5:c.490G>C | ENSP00000306997.5:p.Glu164Gln | |
NM_016599.4:c.490G>C , LRG_396t1:c.490G>C | NP_057683.1:p.Glu164Gln | |
XM_006714234.2:c.490G>C | XP_006714297.1:p.Glu164Gln | |
XM_006714234.4:c.490G>C | XP_006714297.1:p.Glu164Gln | |
NM_016599.5:c.490G>C MANE Select | NP_057683.1:p.Glu164Gln |