Linked Data
ClinVar Variation Id:
56733
ClinVar RCV Id:
RCV000050146
RCV000201755
RCV000685655
RCV000787559
RCV000787812
RCV001376367
RCV002285263
RCV002504949
RCV003460645
dbSNP Id:
rs386834152
gnomAD v2:
12-88508265-G-A
gnomAD v3:
12-88114488-G-A
gnomAD v4:
12-88114488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88114488G>A , CM000674.2:g.88114488G>A | GRCh38 |
| NC_000012.11:g.88508265G>A , CM000674.1:g.88508265G>A | GRCh37 |
| NC_000012.10:g.87032396G>A | NCBI36 |
| NG_008417.1:g.32729C>T | |
| NG_008417.2:g.32729C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.1984C>T | ENSP00000308021.8:p.Gln662Ter | |
| ENST00000547926.7:c.1909+610C>T | ENSP00000448573.3:n.1909+610C>T | |
| ENST00000552810.6:c.1984C>T MANE Select | ENSP00000448012.1:p.Gln662Ter | |
| ENST00000671822.2:n.3540C>T | ||
| ENST00000672414.2:c.*155C>T | ENSP00000500729.1:n.*155C>T | |
| ENST00000673058.2:c.1984C>T | ENSP00000500665.2:p.Gln662Ter | |
| ENST00000674971.1:c.1984C>T | ENSP00000502194.1:p.Gln662Ter | |
| ENST00000675230.1:c.1963C>T | ENSP00000502503.1:p.Gln655Ter | |
| ENST00000675408.1:c.1984C>T | ENSP00000502298.1:p.Gln662Ter | |
| ENST00000675476.1:c.2845C>T | ENSP00000502161.1:p.Gln949Ter | |
| ENST00000675628.1:n.2211C>T | ||
| ENST00000675794.1:c.*155C>T | ENSP00000502841.1:n.*155C>T | |
| ENST00000675833.1:c.2752C>T | ENSP00000502559.1:p.Gln918Ter | |
| ENST00000676074.1:c.1984C>T | ENSP00000502079.1:p.Gln662Ter | |
| ENST00000676363.1:n.4047C>T | ||
| ENST00000676448.1:c.1909+610C>T | ENSP00000501987.1:n.1909+610C>T | |
| ENST00000309041.11:c.1990C>T | ENSP00000308021.7:p.Gln664Ter | |
| ENST00000397838.7:c.1990C>T | ENSP00000380938.4:p.Gln664Ter | |
| ENST00000547926.6:c.1807+610C>T | ENSP00000448573.2:n.1807+610C>T | |
| ENST00000552810.5:c.1984C>T | ENSP00000448012.1:p.Gln662Ter | |
| ENST00000604024.5:c.1243C>T | ENSP00000473863.1:p.Gln415Ter | |
| NM_025114.3:c.1984C>T | NP_079390.3:p.Gln662Ter | |
| XM_011538756.1:c.2845C>T | XP_011537058.1:p.Gln949Ter | |
| XM_011538757.1:c.2845C>T | XP_011537059.1:p.Gln949Ter | |
| XM_011538758.1:c.2845C>T | XP_011537060.1:p.Gln949Ter | |
| XM_011538759.1:c.2845C>T | XP_011537061.1:p.Gln949Ter | |
| XM_011538760.1:c.2845C>T | XP_011537062.1:p.Gln949Ter | |
| XM_011538761.1:c.2845C>T | XP_011537063.1:p.Gln949Ter | |
| XM_011538762.1:c.2077C>T | XP_011537064.1:p.Gln693Ter | |
| XM_011538763.1:c.1984C>T | XP_011537065.1:p.Gln662Ter | |
| XM_011538764.1:c.2845C>T | XP_011537066.1:p.Gln949Ter | |
| XM_011538765.1:c.2845C>T | XP_011537067.1:p.Gln949Ter | |
| XM_011538766.1:c.1306C>T | XP_011537068.1:p.Gln436Ter | |
| XM_011538756.3:c.2845C>T | XP_011537058.1:p.Gln949Ter | |
| XM_011538757.3:c.2845C>T | XP_011537059.1:p.Gln949Ter | |
| XM_011538758.3:c.2845C>T | XP_011537060.1:p.Gln949Ter | |
| XM_011538759.2:c.2845C>T | XP_011537061.1:p.Gln949Ter | |
| XM_011538760.2:c.2845C>T | XP_011537062.1:p.Gln949Ter | |
| XM_011538761.2:c.2845C>T | XP_011537063.1:p.Gln949Ter | |
| XM_011538762.3:c.2077C>T | XP_011537064.1:p.Gln693Ter | |
| XM_011538763.3:c.1984C>T | XP_011537065.1:p.Gln662Ter | |
| XM_011538764.3:c.2845C>T | XP_011537066.1:p.Gln949Ter | |
| XM_011538765.3:c.2845C>T | XP_011537067.1:p.Gln949Ter | |
| XM_011538766.3:c.1306C>T | XP_011537068.1:p.Gln436Ter | |
| XM_017019980.2:c.2845C>T | XP_016875469.1:p.Gln949Ter | |
| XM_017019981.2:c.2845C>T | XP_016875470.1:p.Gln949Ter | |
| XM_017019982.1:c.2845C>T | XP_016875471.1:p.Gln949Ter | |
| XM_017019983.2:c.1963C>T | XP_016875472.1:p.Gln655Ter | |
| XR_001748869.1:n.3189C>T | ||
| XR_001748870.2:n.3189C>T | ||
| NM_025114.4:c.1984C>T MANE Select | NP_079390.3:p.Gln662Ter |