Linked Data
ClinVar Variation Id:
461788
dbSNP Id:
rs184323010
ExAC:
12:88454737 T / C
gnomAD v2:
12-88454737-T-C
gnomAD v3:
12-88060960-T-C
gnomAD v4:
12-88060960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88060960T>C , CM000674.2:g.88060960T>C | GRCh38 |
| NC_000012.11:g.88454737T>C , CM000674.1:g.88454737T>C | GRCh37 |
| NC_000012.10:g.86978868T>C | NCBI36 |
| NG_008417.1:g.86257A>G | |
| NG_008417.2:g.86257A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6401A>G | ENSP00000308021.8:p.Glu2134Gly | |
| ENST00000547691.8:c.3676A>G | ||
| ENST00000552810.6:c.6392A>G MANE Select | ENSP00000448012.1:p.Glu2131Gly | |
| ENST00000671777.2:n.171A>G | ||
| ENST00000672414.2:c.*4529-940A>G | ENSP00000500729.1:n.*4529-940A>G | |
| ENST00000672647.1:n.4752A>G | ||
| ENST00000673058.2:c.6392A>G | ENSP00000500665.2:p.Glu2131Gly | |
| ENST00000674889.1:n.3345A>G | ||
| ENST00000674971.1:c.6392A>G | ENSP00000502194.1:p.Glu2131Gly | |
| ENST00000675230.1:c.6371A>G | ENSP00000502503.1:p.Glu2124Gly | |
| ENST00000675408.1:c.6358-940A>G | ENSP00000502298.1:n.6358-940A>G | |
| ENST00000675476.1:c.7253A>G | ENSP00000502161.1:p.Glu2418Gly | |
| ENST00000675628.1:n.6619A>G | ||
| ENST00000675794.1:c.*4563A>G | ENSP00000502841.1:n.*4563A>G | |
| ENST00000675833.1:c.7160A>G | ENSP00000502559.1:p.Glu2387Gly | |
| ENST00000675894.1:n.2697A>G | ||
| ENST00000676074.1:c.6358-940A>G | ENSP00000502079.1:n.6358-940A>G | |
| ENST00000676181.1:n.5320A>G | ||
| ENST00000676190.1:n.831A>G | ||
| ENST00000676363.1:n.12118A>G | ||
| ENST00000309041.11:c.6398A>G | ENSP00000308021.7:p.Glu2133Gly | |
| ENST00000547691.6:c.3572A>G | ENSP00000446905.1:p.Glu1191Gly | |
| ENST00000552810.5:c.6392A>G | ENSP00000448012.1:p.Glu2131Gly | |
| NM_025114.3:c.6392A>G | NP_079390.3:p.Glu2131Gly | |
| XM_011538756.1:c.7262A>G | XP_011537058.1:p.Glu2421Gly | |
| XM_011538757.1:c.7262A>G | XP_011537059.1:p.Glu2421Gly | |
| XM_011538758.1:c.7259A>G | XP_011537060.1:p.Glu2420Gly | |
| XM_011538759.1:c.7253A>G | XP_011537061.1:p.Glu2418Gly | |
| XM_011538760.1:c.7262A>G | XP_011537062.1:p.Glu2421Gly | |
| XM_011538761.1:c.7228-940A>G | XP_011537063.1:n.7228-940A>G | |
| XM_011538762.1:c.6494A>G | XP_011537064.1:p.Glu2165Gly | |
| XM_011538763.1:c.6401A>G | XP_011537065.1:p.Glu2134Gly | |
| XM_011538766.1:c.5723A>G | XP_011537068.1:p.Glu1908Gly | |
| XR_945163.1:n.967+3940T>C | ||
| XM_011538756.3:c.7262A>G | XP_011537058.1:p.Glu2421Gly | |
| XM_011538757.3:c.7262A>G | XP_011537059.1:p.Glu2421Gly | |
| XM_011538758.3:c.7259A>G | XP_011537060.1:p.Glu2420Gly | |
| XM_011538759.2:c.7253A>G | XP_011537061.1:p.Glu2418Gly | |
| XM_011538760.2:c.7262A>G | XP_011537062.1:p.Glu2421Gly | |
| XM_011538761.2:c.7228-940A>G | XP_011537063.1:n.7228-940A>G | |
| XM_011538762.3:c.6494A>G | XP_011537064.1:p.Glu2165Gly | |
| XM_011538763.3:c.6401A>G | XP_011537065.1:p.Glu2134Gly | |
| XM_011538766.3:c.5723A>G | XP_011537068.1:p.Glu1908Gly | |
| XM_017019980.2:c.7253A>G | XP_016875469.1:p.Glu2418Gly | |
| XM_017019981.2:c.7219-940A>G | XP_016875470.1:n.7219-940A>G | |
| XM_017019982.1:c.7262A>G | XP_016875471.1:p.Glu2421Gly | |
| XM_017019983.2:c.6380A>G | XP_016875472.1:p.Glu2127Gly | |
| XR_001748869.1:n.7597A>G | ||
| XR_001748870.2:n.7563-940A>G | ||
| NM_025114.4:c.6392A>G MANE Select | NP_079390.3:p.Glu2131Gly |