Linked Data
ClinVar Variation Id:
424602
dbSNP Id:
rs759725378
ExAC:
12:88447488 T / C
gnomAD v2:
12-88447488-T-C
gnomAD v3:
12-88053711-T-C
gnomAD v4:
12-88053711-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88053711T>C , CM000674.2:g.88053711T>C | GRCh38 |
| NC_000012.11:g.88447488T>C , CM000674.1:g.88447488T>C | GRCh37 |
| NC_000012.10:g.86971619T>C | NCBI36 |
| NG_008417.1:g.93506A>G | |
| NG_008417.2:g.93506A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7079A>G | ENSP00000308021.8:p.Glu2360Gly | |
| ENST00000547691.8:c.4039A>G | ||
| ENST00000552810.6:c.7070A>G MANE Select | ENSP00000448012.1:p.Glu2357Gly | |
| ENST00000671777.2:n.849A>G | ||
| ENST00000672414.2:c.*5076A>G | ENSP00000500729.1:n.*5076A>G | |
| ENST00000672647.1:n.5430A>G | ||
| ENST00000673058.2:c.6947A>G | ENSP00000500665.2:p.Glu2316Gly | |
| ENST00000674712.1:n.597A>G | ||
| ENST00000674889.1:n.4023A>G | ||
| ENST00000674971.1:c.*27A>G | ENSP00000502194.1:n.*27A>G | |
| ENST00000675230.1:c.7049A>G | ENSP00000502503.1:p.Glu2350Gly | |
| ENST00000675408.1:c.6905A>G | ENSP00000502298.1:p.Glu2302Gly | |
| ENST00000675476.1:c.7931A>G | ENSP00000502161.1:p.Glu2644Gly | |
| ENST00000675628.1:n.9052A>G | ||
| ENST00000675794.1:c.*5241A>G | ENSP00000502841.1:n.*5241A>G | |
| ENST00000675833.1:c.7838A>G | ENSP00000502559.1:p.Glu2613Gly | |
| ENST00000675894.1:n.3375A>G | ||
| ENST00000676074.1:c.*27A>G | ENSP00000502079.1:n.*27A>G | |
| ENST00000676181.1:n.7753A>G | ||
| ENST00000676190.1:n.3264A>G | ||
| ENST00000676363.1:n.12796A>G | ||
| ENST00000309041.11:c.7076A>G | ENSP00000308021.7:p.Glu2359Gly | |
| ENST00000547691.6:c.4250A>G | ENSP00000446905.1:p.Glu1417Gly | |
| ENST00000552810.5:c.7070A>G | ENSP00000448012.1:p.Glu2357Gly | |
| NM_025114.3:c.7070A>G | NP_079390.3:p.Glu2357Gly | |
| XM_011538756.1:c.7940A>G | XP_011537058.1:p.Glu2647Gly | |
| XM_011538757.1:c.7940A>G | XP_011537059.1:p.Glu2647Gly | |
| XM_011538758.1:c.7937A>G | XP_011537060.1:p.Glu2646Gly | |
| XM_011538759.1:c.7931A>G | XP_011537061.1:p.Glu2644Gly | |
| XM_011538760.1:c.7817A>G | XP_011537062.1:p.Glu2606Gly | |
| XM_011538761.1:c.7775A>G | XP_011537063.1:p.Glu2592Gly | |
| XM_011538762.1:c.7172A>G | XP_011537064.1:p.Glu2391Gly | |
| XM_011538763.1:c.7079A>G | XP_011537065.1:p.Glu2360Gly | |
| XM_011538766.1:c.6401A>G | XP_011537068.1:p.Glu2134Gly | |
| XM_011538756.3:c.7940A>G | XP_011537058.1:p.Glu2647Gly | |
| XM_011538757.3:c.7940A>G | XP_011537059.1:p.Glu2647Gly | |
| XM_011538758.3:c.7937A>G | XP_011537060.1:p.Glu2646Gly | |
| XM_011538759.2:c.7931A>G | XP_011537061.1:p.Glu2644Gly | |
| XM_011538760.2:c.7817A>G | XP_011537062.1:p.Glu2606Gly | |
| XM_011538761.2:c.7775A>G | XP_011537063.1:p.Glu2592Gly | |
| XM_011538762.3:c.7172A>G | XP_011537064.1:p.Glu2391Gly | |
| XM_011538763.3:c.7079A>G | XP_011537065.1:p.Glu2360Gly | |
| XM_011538766.3:c.6401A>G | XP_011537068.1:p.Glu2134Gly | |
| XM_017019980.2:c.7808A>G | XP_016875469.1:p.Glu2603Gly | |
| XM_017019981.2:c.7766A>G | XP_016875470.1:p.Glu2589Gly | |
| XM_017019982.1:c.*27A>G | XP_016875471.1:n.*27A>G | |
| XM_017019983.2:c.7058A>G | XP_016875472.1:p.Glu2353Gly | |
| XR_001748869.1:n.8201A>G | ||
| XR_001748870.2:n.8036A>G | ||
| NM_025114.4:c.7070A>G MANE Select | NP_079390.3:p.Glu2357Gly |