Linked Data
ClinVar Variation Id:
498499
dbSNP Id:
rs779550219
ExAC:
12:88444143 C / T
gnomAD v2:
12-88444143-C-T
gnomAD v3:
12-88050366-C-T
gnomAD v4:
12-88050366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88050366C>T , CM000674.2:g.88050366C>T | GRCh38 |
| NC_000012.11:g.88444143C>T , CM000674.1:g.88444143C>T | GRCh37 |
| NC_000012.10:g.86968274C>T | NCBI36 |
| NG_008417.1:g.96851G>A | |
| NG_008417.2:g.96851G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7206G>A | ENSP00000308021.8:p.Lys2402= | |
| ENST00000547691.8:c.4166G>A | ||
| ENST00000552810.6:c.7197G>A MANE Select | ENSP00000448012.1:p.Lys2399= | |
| ENST00000671777.2:n.976G>A | ||
| ENST00000672414.2:c.*5203G>A | ENSP00000500729.1:n.*5203G>A | |
| ENST00000672647.1:n.5557G>A | ||
| ENST00000673058.2:c.7074G>A | ENSP00000500665.2:p.Lys2358= | |
| ENST00000674712.1:n.724G>A | ||
| ENST00000674889.1:n.4150G>A | ||
| ENST00000674971.1:c.*154G>A | ENSP00000502194.1:n.*154G>A | |
| ENST00000675230.1:c.7176G>A | ENSP00000502503.1:p.Lys2392= | |
| ENST00000675408.1:c.7032G>A | ENSP00000502298.1:p.Lys2344= | |
| ENST00000675476.1:c.8058G>A | ENSP00000502161.1:p.Lys2686= | |
| ENST00000675628.1:n.9179G>A | ||
| ENST00000675794.1:c.*5368G>A | ENSP00000502841.1:n.*5368G>A | |
| ENST00000675833.1:c.7965G>A | ENSP00000502559.1:p.Lys2655= | |
| ENST00000675894.1:n.3502G>A | ||
| ENST00000676074.1:c.*154G>A | ENSP00000502079.1:n.*154G>A | |
| ENST00000676181.1:n.7880G>A | ||
| ENST00000676190.1:n.3391G>A | ||
| ENST00000676363.1:n.12923G>A | ||
| ENST00000309041.11:c.7203G>A | ENSP00000308021.7:p.Lys2401= | |
| ENST00000547691.6:c.4377G>A | ENSP00000446905.1:p.Lys1459= | |
| ENST00000552810.5:c.7197G>A | ENSP00000448012.1:p.Lys2399= | |
| NM_025114.3:c.7197G>A | NP_079390.3:p.Lys2399= | |
| XM_011538756.1:c.8067G>A | XP_011537058.1:p.Lys2689= | |
| XM_011538757.1:c.8067G>A | XP_011537059.1:p.Lys2689= | |
| XM_011538758.1:c.8064G>A | XP_011537060.1:p.Lys2688= | |
| XM_011538759.1:c.8058G>A | XP_011537061.1:p.Lys2686= | |
| XM_011538760.1:c.7944G>A | XP_011537062.1:p.Lys2648= | |
| XM_011538761.1:c.7902G>A | XP_011537063.1:p.Lys2634= | |
| XM_011538762.1:c.7299G>A | XP_011537064.1:p.Lys2433= | |
| XM_011538763.1:c.7206G>A | XP_011537065.1:p.Lys2402= | |
| XM_011538766.1:c.6528G>A | XP_011537068.1:p.Lys2176= | |
| XM_011538756.3:c.8067G>A | XP_011537058.1:p.Lys2689= | |
| XM_011538757.3:c.8067G>A | XP_011537059.1:p.Lys2689= | |
| XM_011538758.3:c.8064G>A | XP_011537060.1:p.Lys2688= | |
| XM_011538759.2:c.8058G>A | XP_011537061.1:p.Lys2686= | |
| XM_011538760.2:c.7944G>A | XP_011537062.1:p.Lys2648= | |
| XM_011538761.2:c.7902G>A | XP_011537063.1:p.Lys2634= | |
| XM_011538762.3:c.7299G>A | XP_011537064.1:p.Lys2433= | |
| XM_011538763.3:c.7206G>A | XP_011537065.1:p.Lys2402= | |
| XM_011538766.3:c.6528G>A | XP_011537068.1:p.Lys2176= | |
| XM_017019980.2:c.7935G>A | XP_016875469.1:p.Lys2645= | |
| XM_017019981.2:c.7893G>A | XP_016875470.1:p.Lys2631= | |
| XM_017019983.2:c.7185G>A | XP_016875472.1:p.Lys2395= | |
| XR_001748869.1:n.8328G>A | ||
| XR_001748870.2:n.8163G>A | ||
| NM_025114.4:c.7197G>A MANE Select | NP_079390.3:p.Lys2399= |