Linked Data
ClinVar Variation Id:
514370
dbSNP Id:
rs149387774
ExAC:
12:122693102 G / A
gnomAD v2:
12-122693102-G-A
gnomAD v3:
12-122208555-G-A
gnomAD v4:
12-122208555-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122208555G>A , CM000674.2:g.122208555G>A | GRCh38 |
| NC_000012.11:g.122693102G>A , CM000674.1:g.122693102G>A | GRCh37 |
| NC_000012.10:g.121259055G>A | NCBI36 |
| NG_029459.1:g.23967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267169.11:c.*2C>T (DIABLO) | ENSP00000267169.7:n.*2C>T | |
| ENST00000324189.5:c.*1167G>A (B3GNT4) MANE Select | ENSP00000319636.4:n.*1167G>A | |
| ENST00000353548.11:c.414C>T (DIABLO) | ENSP00000320343.6:p.Thr138= | |
| ENST00000439489.6:c.417C>T (DIABLO) | ENSP00000390818.2:n.417C>T | |
| ENST00000443649.9:c.327C>T (DIABLO) | ENSP00000398495.4:p.Thr109= | |
| ENST00000464942.7:c.546C>T (DIABLO) MANE Select | ENSP00000442360.2:p.Thr182= | |
| ENST00000489781.3:n.1151C>T (DIABLO) | ||
| ENST00000540535.6:c.*460C>T (DIABLO) | ENSP00000441139.2:n.*460C>T | |
| ENST00000541273.6:c.*244C>T (DIABLO) | ENSP00000440971.2:n.*244C>T | |
| ENST00000541656.6:c.683C>T (DIABLO) | ||
| ENST00000642640.1:n.2390C>T (DIABLO) | ||
| ENST00000644227.1:c.*326C>T (DIABLO) | ENSP00000494535.1:n.*326C>T | |
| ENST00000644509.1:n.1781C>T (DIABLO) | ||
| ENST00000645569.1:n.1874C>T (DIABLO) | ||
| ENST00000645606.1:c.*961C>T | ENSP00000493911.1:n.*961C>T | |
| ENST00000650715.1:c.546C>T (DIABLO) | ENSP00000499058.1:p.Thr182= | |
| ENST00000267169.10:c.387C>T (DIABLO) | ENSP00000267169.6:p.Thr129= | |
| ENST00000342392.3:c.*376C>T (DIABLO) | ENSP00000339963.3:n.*376C>T | |
| ENST00000353548.10:c.414C>T (DIABLO) | ENSP00000320343.6:p.Thr138= | |
| ENST00000413918.5:c.327C>T (DIABLO) | ENSP00000411638.2:p.Thr109= | |
| ENST00000439489.5:c.395C>T (DIABLO) | ||
| ENST00000443649.7:c.546C>T (DIABLO) | ENSP00000398495.3:p.Thr182= | |
| ENST00000464942.6:c.387C>T (DIABLO) | ENSP00000442360.1:p.Thr129= | |
| ENST00000474004.6:c.327C>T (DIABLO) | ENSP00000442669.1:p.Thr109= | |
| ENST00000535844.1:c.*340C>T | ENSP00000454454.1:n.*340C>T | |
| ENST00000540535.5:c.327C>T (DIABLO) | ENSP00000441139.1:p.Thr109= | |
| ENST00000541273.5:c.255C>T (DIABLO) | ENSP00000440971.1:p.Thr85= | |
| ENST00000541656.5:c.327C>T (DIABLO) | ENSP00000440653.1:p.Thr109= | |
| ENST00000545141.1:n.266G>A (B3GNT4) | ||
| ENST00000546192.1:c.*1167G>A (B3GNT4) | ENSP00000438840.1:n.*1167G>A | |
| NM_001278302.1:c.255C>T (DIABLO) | NP_001265231.1:p.Thr85= | |
| NM_001278303.1:c.327C>T (DIABLO) | NP_001265232.1:p.Thr109= | |
| NM_001278304.1:c.387C>T (DIABLO) | NP_001265233.1:p.Thr129= | |
| NM_001278342.1:c.414C>T (DIABLO) | NP_001265271.1:p.Thr138= | |
| NM_019887.5:c.546C>T (DIABLO) | NP_063940.1:p.Thr182= | |
| NM_138930.3:c.387C>T (DIABLO) | NP_620308.1:p.Thr129= | |
| NM_001330492.1:c.*1167G>A (B3GNT4) | NP_001317421.1:n.*1167G>A | |
| NM_030765.3:c.*1167G>A (B3GNT4) | NP_110392.1:n.*1167G>A | |
| NM_030765.4:c.*1167G>A (B3GNT4) MANE Select | NP_110392.1:n.*1167G>A | |
| NM_001278304.2:c.387C>T (DIABLO) | NP_001265233.1:p.Thr129= | |
| NM_001371333.1:c.546C>T (DIABLO) MANE Select | NP_001358262.1:p.Thr182= | |
| NM_019887.6:c.546C>T (DIABLO) | NP_063940.1:p.Thr182= | |
| NM_001330492.2:c.*1167G>A (B3GNT4) | NP_001317421.1:n.*1167G>A |