Linked Data
ClinVar Variation Id:
1077912
dbSNP Id:
rs1175295227
gnomAD v2:
12-88457878-C-T
gnomAD v3:
12-88064101-C-T
gnomAD v4:
12-88064101-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88064101C>T , CM000674.2:g.88064101C>T | GRCh38 |
| NC_000012.11:g.88457878C>T , CM000674.1:g.88457878C>T | GRCh37 |
| NC_000012.10:g.86982009C>T | NCBI36 |
| NG_008417.1:g.83116G>A | |
| NG_008417.2:g.83116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6159G>A | ENSP00000308021.8:p.Glu2053= | |
| ENST00000547691.8:c.3434G>A | ||
| ENST00000552810.6:c.6150G>A MANE Select | ENSP00000448012.1:p.Glu2050= | |
| ENST00000672414.2:c.*4321G>A | ENSP00000500729.1:n.*4321G>A | |
| ENST00000672647.1:n.4510G>A | ||
| ENST00000673058.2:c.6150G>A | ENSP00000500665.2:p.Glu2050= | |
| ENST00000674889.1:n.3103G>A | ||
| ENST00000674971.1:c.6150G>A | ENSP00000502194.1:p.Glu2050= | |
| ENST00000675230.1:c.6129G>A | ENSP00000502503.1:p.Glu2043= | |
| ENST00000675408.1:c.6150G>A | ENSP00000502298.1:p.Glu2050= | |
| ENST00000675476.1:c.7011G>A | ENSP00000502161.1:p.Glu2337= | |
| ENST00000675628.1:n.6377G>A | ||
| ENST00000675794.1:c.*4321G>A | ENSP00000502841.1:n.*4321G>A | |
| ENST00000675833.1:c.6918G>A | ENSP00000502559.1:p.Glu2306= | |
| ENST00000675894.1:n.2455G>A | ||
| ENST00000676074.1:c.6150G>A | ENSP00000502079.1:p.Glu2050= | |
| ENST00000676181.1:n.5078G>A | ||
| ENST00000676190.1:n.589G>A | ||
| ENST00000676363.1:n.11876G>A | ||
| ENST00000309041.11:c.6156G>A | ENSP00000308021.7:p.Glu2052= | |
| ENST00000547691.6:c.3330G>A | ENSP00000446905.1:p.Glu1110= | |
| ENST00000552810.5:c.6150G>A | ENSP00000448012.1:p.Glu2050= | |
| NM_025114.3:c.6150G>A | NP_079390.3:p.Glu2050= | |
| XM_011538756.1:c.7020G>A | XP_011537058.1:p.Glu2340= | |
| XM_011538757.1:c.7020G>A | XP_011537059.1:p.Glu2340= | |
| XM_011538758.1:c.7017G>A | XP_011537060.1:p.Glu2339= | |
| XM_011538759.1:c.7011G>A | XP_011537061.1:p.Glu2337= | |
| XM_011538760.1:c.7020G>A | XP_011537062.1:p.Glu2340= | |
| XM_011538761.1:c.7020G>A | XP_011537063.1:p.Glu2340= | |
| XM_011538762.1:c.6252G>A | XP_011537064.1:p.Glu2084= | |
| XM_011538763.1:c.6159G>A | XP_011537065.1:p.Glu2053= | |
| XM_011538766.1:c.5481G>A | XP_011537068.1:p.Glu1827= | |
| XR_945163.1:n.967+7081C>T | ||
| XM_011538756.3:c.7020G>A | XP_011537058.1:p.Glu2340= | |
| XM_011538757.3:c.7020G>A | XP_011537059.1:p.Glu2340= | |
| XM_011538758.3:c.7017G>A | XP_011537060.1:p.Glu2339= | |
| XM_011538759.2:c.7011G>A | XP_011537061.1:p.Glu2337= | |
| XM_011538760.2:c.7020G>A | XP_011537062.1:p.Glu2340= | |
| XM_011538761.2:c.7020G>A | XP_011537063.1:p.Glu2340= | |
| XM_011538762.3:c.6252G>A | XP_011537064.1:p.Glu2084= | |
| XM_011538763.3:c.6159G>A | XP_011537065.1:p.Glu2053= | |
| XM_011538766.3:c.5481G>A | XP_011537068.1:p.Glu1827= | |
| XM_017019980.2:c.7011G>A | XP_016875469.1:p.Glu2337= | |
| XM_017019981.2:c.7011G>A | XP_016875470.1:p.Glu2337= | |
| XM_017019982.1:c.7020G>A | XP_016875471.1:p.Glu2340= | |
| XM_017019983.2:c.6138G>A | XP_016875472.1:p.Glu2046= | |
| XR_001748869.1:n.7355G>A | ||
| XR_001748870.2:n.7355G>A | ||
| NM_025114.4:c.6150G>A MANE Select | NP_079390.3:p.Glu2050= |