HGVS | Genome Assembly |
---|---|
NC_000012.12:g.124950011C>T , CM000674.2:g.124950011C>T | GRCh38 |
NC_000012.11:g.125434557C>T , CM000674.1:g.125434557C>T | GRCh37 |
NC_000012.10:g.124000510C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308736.7:c.3265G>A MANE Select | ENSP00000311135.2:p.Gly1089Ser | |
ENST00000544745.2:c.2736G>A | ||
ENST00000308736.6:c.3265G>A | ENSP00000311135.2:p.Gly1089Ser | |
ENST00000539298.1:n.3365G>A | ||
ENST00000542400.5:n.1879G>A | ||
ENST00000544745.1:c.2626G>A | ENSP00000439009.1:p.Gly876Ser | |
NM_032656.3:c.3265G>A | NP_116045.2:p.Gly1089Ser | |
XM_005253590.2:c.3265G>A | XP_005253647.1:p.Gly1089Ser | |
XM_005253590.3:c.3265G>A | XP_005253647.1:p.Gly1089Ser | |
XR_001748819.1:n.3405G>A | ||
XR_001748820.1:n.3358G>A | ||
NM_032656.4:c.3265G>A MANE Select | NP_116045.2:p.Gly1089Ser |