Linked Data
ClinVar Variation Id:
288171
dbSNP Id:
rs150199226
ExAC:
12:122692978 C / T
gnomAD v2:
12-122692978-C-T
gnomAD v3:
12-122208431-C-T
gnomAD v4:
12-122208431-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122208431C>T , CM000674.2:g.122208431C>T | GRCh38 |
| NC_000012.11:g.122692978C>T , CM000674.1:g.122692978C>T | GRCh37 |
| NC_000012.10:g.121258931C>T | NCBI36 |
| NG_029459.1:g.24091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267169.11:c.*126G>A (DIABLO) | ENSP00000267169.7:n.*126G>A | |
| ENST00000324189.5:c.*1043C>T (B3GNT4) MANE Select | ENSP00000319636.4:n.*1043C>T | |
| ENST00000353548.11:c.538G>A (DIABLO) | ENSP00000320343.6:p.Gly180Arg | |
| ENST00000439489.6:c.541G>A (DIABLO) | ENSP00000390818.2:n.541G>A | |
| ENST00000443649.9:c.451G>A (DIABLO) | ENSP00000398495.4:p.Gly151Arg | |
| ENST00000464942.7:c.670G>A (DIABLO) MANE Select | ENSP00000442360.2:p.Gly224Arg | |
| ENST00000489781.3:n.1275G>A (DIABLO) | ||
| ENST00000540535.6:c.*584G>A (DIABLO) | ENSP00000441139.2:n.*584G>A | |
| ENST00000541273.6:c.*368G>A (DIABLO) | ENSP00000440971.2:n.*368G>A | |
| ENST00000642640.1:n.2514G>A (DIABLO) | ||
| ENST00000644227.1:c.*450G>A (DIABLO) | ENSP00000494535.1:n.*450G>A | |
| ENST00000644509.1:n.1905G>A (DIABLO) | ||
| ENST00000645569.1:n.1998G>A (DIABLO) | ||
| ENST00000645606.1:c.*1085G>A | ENSP00000493911.1:n.*1085G>A | |
| ENST00000650715.1:c.670G>A (DIABLO) | ENSP00000499058.1:p.Gly224Arg | |
| ENST00000267169.10:c.511G>A (DIABLO) | ENSP00000267169.6:p.Gly171Arg | |
| ENST00000342392.3:c.*500G>A (DIABLO) | ENSP00000339963.3:n.*500G>A | |
| ENST00000353548.10:c.538G>A (DIABLO) | ENSP00000320343.6:p.Gly180Arg | |
| ENST00000413918.5:c.451G>A (DIABLO) | ENSP00000411638.2:p.Gly151Arg | |
| ENST00000439489.5:c.519G>A (DIABLO) | ||
| ENST00000443649.7:c.670G>A (DIABLO) | ENSP00000398495.3:p.Gly224Arg | |
| ENST00000464942.6:c.511G>A (DIABLO) | ENSP00000442360.1:p.Gly171Arg | |
| ENST00000474004.6:c.451G>A (DIABLO) | ENSP00000442669.1:p.Gly151Arg | |
| ENST00000535844.1:c.*464G>A | ENSP00000454454.1:n.*464G>A | |
| ENST00000541273.5:c.379G>A (DIABLO) | ENSP00000440971.1:p.Gly127Arg | |
| ENST00000545141.1:n.191-49C>T (B3GNT4) | ||
| ENST00000546192.1:c.*1043C>T (B3GNT4) | ENSP00000438840.1:n.*1043C>T | |
| NM_001278302.1:c.379G>A (DIABLO) | NP_001265231.1:p.Gly127Arg | |
| NM_001278303.1:c.451G>A (DIABLO) | NP_001265232.1:p.Gly151Arg | |
| NM_001278304.1:c.511G>A (DIABLO) | NP_001265233.1:p.Gly171Arg | |
| NM_001278342.1:c.538G>A (DIABLO) | NP_001265271.1:p.Gly180Arg | |
| NM_019887.5:c.670G>A (DIABLO) | NP_063940.1:p.Gly224Arg | |
| NM_138930.3:c.511G>A (DIABLO) | NP_620308.1:p.Gly171Arg | |
| NM_001330492.1:c.*1043C>T (B3GNT4) | NP_001317421.1:n.*1043C>T | |
| NM_030765.3:c.*1043C>T (B3GNT4) | NP_110392.1:n.*1043C>T | |
| NM_030765.4:c.*1043C>T (B3GNT4) MANE Select | NP_110392.1:n.*1043C>T | |
| NM_001278304.2:c.511G>A (DIABLO) | NP_001265233.1:p.Gly171Arg | |
| NM_001371333.1:c.670G>A (DIABLO) MANE Select | NP_001358262.1:p.Gly224Arg | |
| NM_019887.6:c.670G>A (DIABLO) | NP_063940.1:p.Gly224Arg | |
| NM_001330492.2:c.*1043C>T (B3GNT4) | NP_001317421.1:n.*1043C>T |