Linked Data
ClinVar Variation Id:
514568
ClinVar RCV Id:
RCV000610761
dbSNP Id:
rs1223091168
gnomAD v3:
12-122208441-T-C
gnomAD v4:
12-122208441-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122208441T>C , CM000674.2:g.122208441T>C | GRCh38 |
| NC_000012.11:g.122692988T>C , CM000674.1:g.122692988T>C | GRCh37 |
| NC_000012.10:g.121258941T>C | NCBI36 |
| NG_029459.1:g.24081A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267169.11:c.*116A>G (DIABLO) | ENSP00000267169.7:n.*116A>G | |
| ENST00000324189.5:c.*1053T>C (B3GNT4) MANE Select | ENSP00000319636.4:n.*1053T>C | |
| ENST00000353548.11:c.528A>G (DIABLO) | ENSP00000320343.6:p.Thr176= | |
| ENST00000439489.6:c.531A>G (DIABLO) | ENSP00000390818.2:n.531A>G | |
| ENST00000443649.9:c.441A>G (DIABLO) | ENSP00000398495.4:p.Thr147= | |
| ENST00000464942.7:c.660A>G (DIABLO) MANE Select | ENSP00000442360.2:p.Thr220= | |
| ENST00000489781.3:n.1265A>G (DIABLO) | ||
| ENST00000540535.6:c.*574A>G (DIABLO) | ENSP00000441139.2:n.*574A>G | |
| ENST00000541273.6:c.*358A>G (DIABLO) | ENSP00000440971.2:n.*358A>G | |
| ENST00000642640.1:n.2504A>G (DIABLO) | ||
| ENST00000644227.1:c.*440A>G (DIABLO) | ENSP00000494535.1:n.*440A>G | |
| ENST00000644509.1:n.1895A>G (DIABLO) | ||
| ENST00000645569.1:n.1988A>G (DIABLO) | ||
| ENST00000645606.1:c.*1075A>G | ENSP00000493911.1:n.*1075A>G | |
| ENST00000650715.1:c.660A>G (DIABLO) | ENSP00000499058.1:p.Thr220= | |
| ENST00000267169.10:c.501A>G (DIABLO) | ENSP00000267169.6:p.Thr167= | |
| ENST00000342392.3:c.*490A>G (DIABLO) | ENSP00000339963.3:n.*490A>G | |
| ENST00000353548.10:c.528A>G (DIABLO) | ENSP00000320343.6:p.Thr176= | |
| ENST00000413918.5:c.441A>G (DIABLO) | ENSP00000411638.2:p.Thr147= | |
| ENST00000439489.5:c.509A>G (DIABLO) | ||
| ENST00000443649.7:c.660A>G (DIABLO) | ENSP00000398495.3:p.Thr220= | |
| ENST00000464942.6:c.501A>G (DIABLO) | ENSP00000442360.1:p.Thr167= | |
| ENST00000474004.6:c.441A>G (DIABLO) | ENSP00000442669.1:p.Thr147= | |
| ENST00000535844.1:c.*454A>G | ENSP00000454454.1:n.*454A>G | |
| ENST00000541273.5:c.369A>G (DIABLO) | ENSP00000440971.1:p.Thr123= | |
| ENST00000545141.1:n.191-39T>C (B3GNT4) | ||
| ENST00000546192.1:c.*1053T>C (B3GNT4) | ENSP00000438840.1:n.*1053T>C | |
| NM_001278302.1:c.369A>G (DIABLO) | NP_001265231.1:p.Thr123= | |
| NM_001278303.1:c.441A>G (DIABLO) | NP_001265232.1:p.Thr147= | |
| NM_001278304.1:c.501A>G (DIABLO) | NP_001265233.1:p.Thr167= | |
| NM_001278342.1:c.528A>G (DIABLO) | NP_001265271.1:p.Thr176= | |
| NM_019887.5:c.660A>G (DIABLO) | NP_063940.1:p.Thr220= | |
| NM_138930.3:c.501A>G (DIABLO) | NP_620308.1:p.Thr167= | |
| NM_001330492.1:c.*1053T>C (B3GNT4) | NP_001317421.1:n.*1053T>C | |
| NM_030765.3:c.*1053T>C (B3GNT4) | NP_110392.1:n.*1053T>C | |
| NM_030765.4:c.*1053T>C (B3GNT4) MANE Select | NP_110392.1:n.*1053T>C | |
| NM_001278304.2:c.501A>G (DIABLO) | NP_001265233.1:p.Thr167= | |
| NM_001371333.1:c.660A>G (DIABLO) MANE Select | NP_001358262.1:p.Thr220= | |
| NM_019887.6:c.660A>G (DIABLO) | NP_063940.1:p.Thr220= | |
| NM_001330492.2:c.*1053T>C (B3GNT4) | NP_001317421.1:n.*1053T>C |