Linked Data
ClinVar Variation Id:
372978
ClinVar RCV Id:
RCV000413150
dbSNP Id:
rs1057518113
gnomAD v2:
1-151400460-C-T
gnomAD v4:
1-151427984-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151427984C>T , CM000663.2:g.151427984C>T | GRCh38 |
| NC_000001.10:g.151400460C>T , CM000663.1:g.151400460C>T | GRCh37 |
| NC_000001.9:g.149667084C>T | NCBI36 |
| NG_046601.1:g.36482G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710270.1:c.965G>A | ENSP00000518163.1:p.Arg322Gln | |
| ENST00000392723.6:c.758G>A | ENSP00000376484.1:p.Arg253Gln | |
| ENST00000439756.2:c.917G>A | ENSP00000390156.2:p.Arg306Gln | |
| ENST00000703168.1:c.938G>A | ENSP00000515214.1:p.Arg313Gln | |
| ENST00000703169.1:c.890G>A | ENSP00000515215.1:p.Arg297Gln | |
| ENST00000271715.7:c.917G>A MANE Select | ENSP00000271715.2:p.Arg306Gln | |
| ENST00000271715.6:c.917G>A | ENSP00000271715.2:p.Arg306Gln | |
| ENST00000358476.7:n.786G>A | ||
| ENST00000368863.6:c.632G>A | ENSP00000357856.2:p.Arg211Gln | |
| ENST00000392723.5:c.758G>A | ENSP00000376484.1:p.Arg253Gln | |
| ENST00000409503.5:c.890G>A | ENSP00000386836.1:p.Arg297Gln | |
| ENST00000485040.5:n.946G>A | ||
| ENST00000491586.5:c.758G>A | ENSP00000418408.1:p.Arg253Gln | |
| ENST00000531094.5:c.731G>A | ENSP00000431259.1:p.Arg244Gln | |
| ENST00000594456.1:c.154G>A | ||
| NM_001194937.1:c.890G>A | NP_001181866.1:p.Arg297Gln | |
| NM_001194938.1:c.731G>A | NP_001181867.1:p.Arg244Gln | |
| NM_015100.3:c.917G>A | NP_055915.2:p.Arg306Gln | |
| NM_145796.3:c.632G>A | NP_665739.3:p.Arg211Gln | |
| NM_207171.2:c.758G>A | NP_997054.1:p.Arg253Gln | |
| XM_005244999.1:c.917G>A | XP_005245056.1:p.Arg306Gln | |
| XM_005245000.3:c.917G>A | XP_005245057.1:p.Arg306Gln | |
| XM_005245001.1:c.917G>A | XP_005245058.1:p.Arg306Gln | |
| XM_005245005.1:c.758G>A | XP_005245062.1:p.Arg253Gln | |
| XM_005245006.3:c.758G>A | XP_005245063.1:p.Arg253Gln | |
| XM_011509330.1:c.809G>A | XP_011507632.1:p.Arg270Gln | |
| XM_011509331.1:c.560G>A | XP_011507633.1:p.Arg187Gln | |
| XR_921760.1:n.918G>A | ||
| XM_005244999.3:c.917G>A | XP_005245056.1:p.Arg306Gln | |
| XM_005245000.4:c.917G>A | XP_005245057.1:p.Arg306Gln | |
| XM_005245001.2:c.917G>A | XP_005245058.1:p.Arg306Gln | |
| XM_005245005.2:c.758G>A | XP_005245062.1:p.Arg253Gln | |
| XM_005245006.5:c.758G>A | XP_005245063.1:p.Arg253Gln | |
| XM_017000744.1:c.938G>A | XP_016856233.1:p.Arg313Gln | |
| XM_017000745.2:c.890G>A | XP_016856234.1:p.Arg297Gln | |
| XM_017000746.1:c.890G>A | XP_016856235.1:p.Arg297Gln | |
| XM_017000748.1:c.758G>A | XP_016856237.1:p.Arg253Gln | |
| XM_017000749.1:c.758G>A | XP_016856238.1:p.Arg253Gln | |
| XM_024454305.1:c.938G>A | XP_024310073.1:p.Arg313Gln | |
| XM_024454306.1:c.-177G>A | XP_024310074.1:n.-177G>A | |
| XR_002959801.1:n.945G>A | ||
| NM_015100.4:c.917G>A MANE Select | NP_055915.2:p.Arg306Gln | |
| NM_001194937.2:c.890G>A | NP_001181866.1:p.Arg297Gln | |
| NM_001194938.2:c.731G>A | NP_001181867.1:p.Arg244Gln | |
| NM_145796.4:c.632G>A | NP_665739.3:p.Arg211Gln |