Linked Data
ClinVar Variation Id:
158791
dbSNP Id:
rs587783730
ExAC:
12:49431648 C / T
gnomAD v2:
12-49431648-C-T
gnomAD v3:
12-49037865-C-T
gnomAD v4:
12-49037865-C-T
COSMIC:
COSM5104716
PubMed:
PMID:26749308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49037865C>T , CM000674.2:g.49037865C>T | GRCh38 |
| NC_000012.11:g.49431648C>T , CM000674.1:g.49431648C>T | GRCh37 |
| NC_000012.10:g.47717915C>T | NCBI36 |
| NG_027827.1:g.22460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683043.1:n.1190G>A | ||
| ENST00000683543.2:c.9491G>A | ENSP00000506726.1:p.Arg3164Gln | |
| ENST00000685166.1:c.9500G>A | ENSP00000509386.1:p.Arg3167Gln | |
| ENST00000687201.1:c.1055G>A | ENSP00000510037.1:p.Arg352Gln | |
| ENST00000689143.1:c.3094G>A | ENSP00000509839.1:n.3094G>A | |
| ENST00000692637.1:c.9488G>A | ENSP00000509666.1:p.Arg3163Gln | |
| ENST00000692841.1:c.1055G>A | ENSP00000508711.1:p.Arg352Gln | |
| ENST00000301067.12:c.9491G>A MANE Select | ENSP00000301067.7:p.Arg3164Gln | |
| ENST00000301067.11:c.9491G>A | ENSP00000301067.7:p.Arg3164Gln | |
| NM_003482.3:c.9491G>A | NP_003473.3:p.Arg3164Gln | |
| XM_005269162.3:c.9491G>A | XP_005269219.1:p.Arg3164Gln | |
| XM_006719614.2:c.9500G>A | XP_006719677.1:p.Arg3167Gln | |
| XM_006719616.2:c.9488G>A | XP_006719679.1:p.Arg3163Gln | |
| XM_011538770.1:c.9500G>A | XP_011537072.1:p.Arg3167Gln | |
| XM_011538771.1:c.9497G>A | XP_011537073.1:p.Arg3166Gln | |
| XM_011538772.1:c.9491G>A | XP_011537074.1:p.Arg3164Gln | |
| XM_011538773.1:c.9488G>A | XP_011537075.1:p.Arg3163Gln | |
| XM_011538774.1:c.9479G>A | XP_011537076.1:p.Arg3160Gln | |
| XM_011538775.1:c.9500G>A | XP_011537077.1:p.Arg3167Gln | |
| XM_011538776.1:c.9407G>A | XP_011537078.1:p.Arg3136Gln | |
| XR_944740.1:n.11820G>A | ||
| XM_005269162.4:c.9491G>A | XP_005269219.1:p.Arg3164Gln | |
| XM_006719614.4:c.9500G>A | XP_006719677.1:p.Arg3167Gln | |
| XM_006719616.3:c.9488G>A | XP_006719679.1:p.Arg3163Gln | |
| XM_011538770.2:c.9500G>A | XP_011537072.1:p.Arg3167Gln | |
| XM_011538771.2:c.9497G>A | XP_011537073.1:p.Arg3166Gln | |
| XM_011538772.2:c.9491G>A | XP_011537074.1:p.Arg3164Gln | |
| XM_011538773.2:c.9488G>A | XP_011537075.1:p.Arg3163Gln | |
| XM_011538774.2:c.9479G>A | XP_011537076.1:p.Arg3160Gln | |
| XM_011538776.2:c.9407G>A | XP_011537078.1:p.Arg3136Gln | |
| XR_001748874.1:n.10809G>A | ||
| NM_003482.4:c.9491G>A MANE Select | NP_003473.3:p.Arg3164Gln |