Linked Data
ClinVar Variation Id:
515387
dbSNP Id:
rs1424407266
gnomAD v2:
12-88448147-T-C
gnomAD v3:
12-88054370-T-C
gnomAD v4:
12-88054370-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88054370T>C , CM000674.2:g.88054370T>C | GRCh38 |
| NC_000012.11:g.88448147T>C , CM000674.1:g.88448147T>C | GRCh37 |
| NC_000012.10:g.86972278T>C | NCBI36 |
| NG_008417.1:g.92847A>G | |
| NG_008417.2:g.92847A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7013A>G | ENSP00000308021.8:p.Gln2338Arg | |
| ENST00000547691.8:c.3973A>G | ||
| ENST00000552810.6:c.7004A>G MANE Select | ENSP00000448012.1:p.Gln2335Arg | |
| ENST00000671777.2:n.783A>G | ||
| ENST00000672414.2:c.*5010A>G | ENSP00000500729.1:n.*5010A>G | |
| ENST00000672647.1:n.5364A>G | ||
| ENST00000673058.2:c.6881A>G | ENSP00000500665.2:p.Gln2294Arg | |
| ENST00000674712.1:n.531A>G | ||
| ENST00000674889.1:n.3957A>G | ||
| ENST00000674971.1:c.6961-624A>G | ENSP00000502194.1:n.6961-624A>G | |
| ENST00000675230.1:c.6983A>G | ENSP00000502503.1:p.Gln2328Arg | |
| ENST00000675408.1:c.6839A>G | ENSP00000502298.1:p.Gln2280Arg | |
| ENST00000675476.1:c.7865A>G | ENSP00000502161.1:p.Gln2622Arg | |
| ENST00000675628.1:n.8393A>G | ||
| ENST00000675794.1:c.*5175A>G | ENSP00000502841.1:n.*5175A>G | |
| ENST00000675833.1:c.7772A>G | ENSP00000502559.1:p.Gln2591Arg | |
| ENST00000675894.1:n.3309A>G | ||
| ENST00000676074.1:c.6796-624A>G | ENSP00000502079.1:n.6796-624A>G | |
| ENST00000676181.1:n.7094A>G | ||
| ENST00000676190.1:n.2605A>G | ||
| ENST00000676363.1:n.12730A>G | ||
| ENST00000309041.11:c.7010A>G | ENSP00000308021.7:p.Gln2337Arg | |
| ENST00000547691.6:c.4184A>G | ENSP00000446905.1:p.Gln1395Arg | |
| ENST00000552810.5:c.7004A>G | ENSP00000448012.1:p.Gln2335Arg | |
| NM_025114.3:c.7004A>G | NP_079390.3:p.Gln2335Arg | |
| XM_011538756.1:c.7874A>G | XP_011537058.1:p.Gln2625Arg | |
| XM_011538757.1:c.7874A>G | XP_011537059.1:p.Gln2625Arg | |
| XM_011538758.1:c.7871A>G | XP_011537060.1:p.Gln2624Arg | |
| XM_011538759.1:c.7865A>G | XP_011537061.1:p.Gln2622Arg | |
| XM_011538760.1:c.7751A>G | XP_011537062.1:p.Gln2584Arg | |
| XM_011538761.1:c.7709A>G | XP_011537063.1:p.Gln2570Arg | |
| XM_011538762.1:c.7106A>G | XP_011537064.1:p.Gln2369Arg | |
| XM_011538763.1:c.7013A>G | XP_011537065.1:p.Gln2338Arg | |
| XM_011538766.1:c.6335A>G | XP_011537068.1:p.Gln2112Arg | |
| XM_011538756.3:c.7874A>G | XP_011537058.1:p.Gln2625Arg | |
| XM_011538757.3:c.7874A>G | XP_011537059.1:p.Gln2625Arg | |
| XM_011538758.3:c.7871A>G | XP_011537060.1:p.Gln2624Arg | |
| XM_011538759.2:c.7865A>G | XP_011537061.1:p.Gln2622Arg | |
| XM_011538760.2:c.7751A>G | XP_011537062.1:p.Gln2584Arg | |
| XM_011538761.2:c.7709A>G | XP_011537063.1:p.Gln2570Arg | |
| XM_011538762.3:c.7106A>G | XP_011537064.1:p.Gln2369Arg | |
| XM_011538763.3:c.7013A>G | XP_011537065.1:p.Gln2338Arg | |
| XM_011538766.3:c.6335A>G | XP_011537068.1:p.Gln2112Arg | |
| XM_017019980.2:c.7742A>G | XP_016875469.1:p.Gln2581Arg | |
| XM_017019981.2:c.7700A>G | XP_016875470.1:p.Gln2567Arg | |
| XM_017019982.1:c.7831-624A>G | XP_016875471.1:n.7831-624A>G | |
| XM_017019983.2:c.6992A>G | XP_016875472.1:p.Gln2331Arg | |
| XR_001748869.1:n.8166-624A>G | ||
| XR_001748870.2:n.8001-624A>G | ||
| NM_025114.4:c.7004A>G MANE Select | NP_079390.3:p.Gln2335Arg |