Linked Data
ClinVar Variation Id:
1195975
dbSNP Id:
rs2034330893
gnomAD v4:
12-88059909-C-T
COSMIC:
COSM1994785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88059909C>T , CM000674.2:g.88059909C>T | GRCh38 |
| NC_000012.11:g.88453686C>T , CM000674.1:g.88453686C>T | GRCh37 |
| NC_000012.10:g.86977817C>T | NCBI36 |
| NG_008417.1:g.87308G>A | |
| NG_008417.2:g.87308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6643G>A | ENSP00000308021.8:p.Glu2215Lys | |
| ENST00000547691.8:c.3918G>A | ||
| ENST00000552810.6:c.6634G>A MANE Select | ENSP00000448012.1:p.Glu2212Lys | |
| ENST00000671777.2:n.413G>A | ||
| ENST00000672414.2:c.*4640G>A | ENSP00000500729.1:n.*4640G>A | |
| ENST00000672647.1:n.4994G>A | ||
| ENST00000673058.2:c.6523-889G>A | ENSP00000500665.2:n.6523-889G>A | |
| ENST00000674889.1:n.3587G>A | ||
| ENST00000674971.1:c.6634G>A | ENSP00000502194.1:p.Glu2212Lys | |
| ENST00000675230.1:c.6613G>A | ENSP00000502503.1:p.Glu2205Lys | |
| ENST00000675408.1:c.6469G>A | ENSP00000502298.1:p.Glu2157Lys | |
| ENST00000675476.1:c.7495G>A | ENSP00000502161.1:p.Glu2499Lys | |
| ENST00000675628.1:n.6861G>A | ||
| ENST00000675794.1:c.*4805G>A | ENSP00000502841.1:n.*4805G>A | |
| ENST00000675833.1:c.7402G>A | ENSP00000502559.1:p.Glu2468Lys | |
| ENST00000675894.1:n.2939G>A | ||
| ENST00000676074.1:c.6469G>A | ENSP00000502079.1:p.Glu2157Lys | |
| ENST00000676181.1:n.5562G>A | ||
| ENST00000676190.1:n.1073G>A | ||
| ENST00000676363.1:n.12360G>A | ||
| ENST00000309041.11:c.6640G>A | ENSP00000308021.7:p.Glu2214Lys | |
| ENST00000547691.6:c.3814G>A | ENSP00000446905.1:p.Glu1272Lys | |
| ENST00000552810.5:c.6634G>A | ENSP00000448012.1:p.Glu2212Lys | |
| NM_025114.3:c.6634G>A | NP_079390.3:p.Glu2212Lys | |
| XM_011538756.1:c.7504G>A | XP_011537058.1:p.Glu2502Lys | |
| XM_011538757.1:c.7504G>A | XP_011537059.1:p.Glu2502Lys | |
| XM_011538758.1:c.7501G>A | XP_011537060.1:p.Glu2501Lys | |
| XM_011538759.1:c.7495G>A | XP_011537061.1:p.Glu2499Lys | |
| XM_011538760.1:c.7393-889G>A | XP_011537062.1:n.7393-889G>A | |
| XM_011538761.1:c.7339G>A | XP_011537063.1:p.Glu2447Lys | |
| XM_011538762.1:c.6736G>A | XP_011537064.1:p.Glu2246Lys | |
| XM_011538763.1:c.6643G>A | XP_011537065.1:p.Glu2215Lys | |
| XM_011538766.1:c.5965G>A | XP_011537068.1:p.Glu1989Lys | |
| XR_945163.1:n.967+2889C>T | ||
| XM_011538756.3:c.7504G>A | XP_011537058.1:p.Glu2502Lys | |
| XM_011538757.3:c.7504G>A | XP_011537059.1:p.Glu2502Lys | |
| XM_011538758.3:c.7501G>A | XP_011537060.1:p.Glu2501Lys | |
| XM_011538759.2:c.7495G>A | XP_011537061.1:p.Glu2499Lys | |
| XM_011538760.2:c.7393-889G>A | XP_011537062.1:n.7393-889G>A | |
| XM_011538761.2:c.7339G>A | XP_011537063.1:p.Glu2447Lys | |
| XM_011538762.3:c.6736G>A | XP_011537064.1:p.Glu2246Lys | |
| XM_011538763.3:c.6643G>A | XP_011537065.1:p.Glu2215Lys | |
| XM_011538766.3:c.5965G>A | XP_011537068.1:p.Glu1989Lys | |
| XM_017019980.2:c.7384-889G>A | XP_016875469.1:n.7384-889G>A | |
| XM_017019981.2:c.7330G>A | XP_016875470.1:p.Glu2444Lys | |
| XM_017019982.1:c.7504G>A | XP_016875471.1:p.Glu2502Lys | |
| XM_017019983.2:c.6622G>A | XP_016875472.1:p.Glu2208Lys | |
| XR_001748869.1:n.7839G>A | ||
| XR_001748870.2:n.7674G>A | ||
| NM_025114.4:c.6634G>A MANE Select | NP_079390.3:p.Glu2212Lys |