Linked Data
ClinVar Variation Id:
480397
ClinVar RCV Id:
RCV000574488
dbSNP Id:
rs1316773244
gnomAD v2:
5-131930606-T-C
gnomAD v4:
5-132594914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594914T>C , CM000667.2:g.132594914T>C | GRCh38 |
| NC_000005.9:g.131930606T>C , CM000667.1:g.131930606T>C | GRCh37 |
| NC_000005.8:g.131958505T>C | NCBI36 |
| NG_021151.1:g.42991T>C | |
| NG_021151.2:g.42938T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1839T>C MANE Select | ENSP00000368100.4:p.Asn613= | |
| ENST00000638452.2:c.1542T>C | ENSP00000492349.2:p.Asn514= | |
| ENST00000638504.1:n.1480-190T>C | ||
| ENST00000638568.2:c.1542T>C | ENSP00000491158.2:p.Asn514= | |
| ENST00000639899.1:n.2358T>C | ||
| ENST00000640655.2:c.1542T>C | ENSP00000491596.2:p.Asn514= | |
| ENST00000651160.1:c.*16-190T>C | ENSP00000498829.1:n.*16-190T>C | |
| ENST00000651658.1:n.2382T>C | ||
| ENST00000651723.1:c.*1922T>C | ENSP00000498237.1:n.*1922T>C | |
| ENST00000652016.1:c.*89-190T>C | ENSP00000498267.1:n.*89-190T>C | |
| ENST00000652485.1:c.1872T>C | ENSP00000498973.1:p.Asn624= | |
| ENST00000378823.7:c.1839T>C | ENSP00000368100.4:p.Asn613= | |
| ENST00000423956.5:c.*25T>C | ENSP00000390971.1:n.*25T>C | |
| ENST00000453394.5:c.1656T>C | ENSP00000400049.1:p.Asn552= | |
| ENST00000533482.5:c.*1465T>C | ENSP00000431225.1:n.*1465T>C | |
| NM_005732.3:c.1839T>C | NP_005723.2:p.Asn613= | |
| NM_005732.4:c.1839T>C MANE Select | NP_005723.2:p.Asn613= |