Linked Data
ClinVar Variation Id:
166829
ClinVar RCV Id:
RCV000152970
RCV000224947
RCV001082043
RCV001114081
RCV001114080
RCV001272012
RCV001114077
RCV001114078
RCV001114079
RCV001252445
dbSNP Id:
rs117852025
ExAC:
12:88454728 A / G
gnomAD v2:
12-88454728-A-G
gnomAD v3:
12-88060951-A-G
gnomAD v4:
12-88060951-A-G
COSMIC:
COSM550178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88060951A>G , CM000674.2:g.88060951A>G | GRCh38 |
| NC_000012.11:g.88454728A>G , CM000674.1:g.88454728A>G | GRCh37 |
| NC_000012.10:g.86978859A>G | NCBI36 |
| NG_008417.1:g.86266T>C | |
| NG_008417.2:g.86266T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6410T>C | ENSP00000308021.8:p.Ile2137Thr | |
| ENST00000547691.8:c.3685T>C | ||
| ENST00000552810.6:c.6401T>C MANE Select | ENSP00000448012.1:p.Ile2134Thr | |
| ENST00000671777.2:n.180T>C | ||
| ENST00000672414.2:c.*4529-931T>C | ENSP00000500729.1:n.*4529-931T>C | |
| ENST00000672647.1:n.4761T>C | ||
| ENST00000673058.2:c.6401T>C | ENSP00000500665.2:p.Ile2134Thr | |
| ENST00000674889.1:n.3354T>C | ||
| ENST00000674971.1:c.6401T>C | ENSP00000502194.1:p.Ile2134Thr | |
| ENST00000675230.1:c.6380T>C | ENSP00000502503.1:p.Ile2127Thr | |
| ENST00000675408.1:c.6358-931T>C | ENSP00000502298.1:n.6358-931T>C | |
| ENST00000675476.1:c.7262T>C | ENSP00000502161.1:p.Ile2421Thr | |
| ENST00000675628.1:n.6628T>C | ||
| ENST00000675794.1:c.*4572T>C | ENSP00000502841.1:n.*4572T>C | |
| ENST00000675833.1:c.7169T>C | ENSP00000502559.1:p.Ile2390Thr | |
| ENST00000675894.1:n.2706T>C | ||
| ENST00000676074.1:c.6358-931T>C | ENSP00000502079.1:n.6358-931T>C | |
| ENST00000676181.1:n.5329T>C | ||
| ENST00000676190.1:n.840T>C | ||
| ENST00000676363.1:n.12127T>C | ||
| ENST00000309041.11:c.6407T>C | ENSP00000308021.7:p.Ile2136Thr | |
| ENST00000547691.6:c.3581T>C | ENSP00000446905.1:p.Ile1194Thr | |
| ENST00000552810.5:c.6401T>C | ENSP00000448012.1:p.Ile2134Thr | |
| NM_025114.3:c.6401T>C | NP_079390.3:p.Ile2134Thr | |
| XM_011538756.1:c.7271T>C | XP_011537058.1:p.Ile2424Thr | |
| XM_011538757.1:c.7271T>C | XP_011537059.1:p.Ile2424Thr | |
| XM_011538758.1:c.7268T>C | XP_011537060.1:p.Ile2423Thr | |
| XM_011538759.1:c.7262T>C | XP_011537061.1:p.Ile2421Thr | |
| XM_011538760.1:c.7271T>C | XP_011537062.1:p.Ile2424Thr | |
| XM_011538761.1:c.7228-931T>C | XP_011537063.1:n.7228-931T>C | |
| XM_011538762.1:c.6503T>C | XP_011537064.1:p.Ile2168Thr | |
| XM_011538763.1:c.6410T>C | XP_011537065.1:p.Ile2137Thr | |
| XM_011538766.1:c.5732T>C | XP_011537068.1:p.Ile1911Thr | |
| XR_945163.1:n.967+3931A>G | ||
| XM_011538756.3:c.7271T>C | XP_011537058.1:p.Ile2424Thr | |
| XM_011538757.3:c.7271T>C | XP_011537059.1:p.Ile2424Thr | |
| XM_011538758.3:c.7268T>C | XP_011537060.1:p.Ile2423Thr | |
| XM_011538759.2:c.7262T>C | XP_011537061.1:p.Ile2421Thr | |
| XM_011538760.2:c.7271T>C | XP_011537062.1:p.Ile2424Thr | |
| XM_011538761.2:c.7228-931T>C | XP_011537063.1:n.7228-931T>C | |
| XM_011538762.3:c.6503T>C | XP_011537064.1:p.Ile2168Thr | |
| XM_011538763.3:c.6410T>C | XP_011537065.1:p.Ile2137Thr | |
| XM_011538766.3:c.5732T>C | XP_011537068.1:p.Ile1911Thr | |
| XM_017019980.2:c.7262T>C | XP_016875469.1:p.Ile2421Thr | |
| XM_017019981.2:c.7219-931T>C | XP_016875470.1:n.7219-931T>C | |
| XM_017019982.1:c.7271T>C | XP_016875471.1:p.Ile2424Thr | |
| XM_017019983.2:c.6389T>C | XP_016875472.1:p.Ile2130Thr | |
| XR_001748869.1:n.7606T>C | ||
| XR_001748870.2:n.7563-931T>C | ||
| NM_025114.4:c.6401T>C MANE Select | NP_079390.3:p.Ile2134Thr |