Linked Data
ClinVar Variation Id:
414968
ClinVar RCV Id:
RCV000458938
dbSNP Id:
rs760093523
ExAC:
5:131926951 T / C
gnomAD v2:
5-131926951-T-C
gnomAD v4:
5-132591259-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132591259T>C , CM000667.2:g.132591259T>C | GRCh38 |
| NC_000005.9:g.131926951T>C , CM000667.1:g.131926951T>C | GRCh37 |
| NC_000005.8:g.131954850T>C | NCBI36 |
| NG_021151.1:g.39336T>C | |
| NG_021151.2:g.39283T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1488T>C MANE Select | ENSP00000368100.4:p.Asn496= | |
| ENST00000638452.2:c.1191T>C | ENSP00000492349.2:p.Asn397= | |
| ENST00000638504.1:n.1174T>C | ||
| ENST00000638568.2:c.1191T>C | ENSP00000491158.2:p.Asn397= | |
| ENST00000639899.1:n.2007T>C | ||
| ENST00000640655.2:c.1191T>C | ENSP00000491596.2:p.Asn397= | |
| ENST00000651160.1:c.1488T>C | ENSP00000498829.1:p.Asn496= | |
| ENST00000651541.1:c.1191T>C | ENSP00000498795.1:p.Asn397= | |
| ENST00000651658.1:n.1915T>C | ||
| ENST00000651723.1:c.*1571T>C | ENSP00000498237.1:n.*1571T>C | |
| ENST00000652016.1:c.1488T>C | ENSP00000498267.1:p.Asn496= | |
| ENST00000652485.1:c.1521T>C | ENSP00000498973.1:p.Asn507= | |
| ENST00000378823.7:c.1488T>C | ENSP00000368100.4:p.Asn496= | |
| ENST00000423956.5:c.1488T>C | ENSP00000390971.1:p.Asn496= | |
| ENST00000453394.5:c.1453-618T>C | ENSP00000400049.1:n.1453-618T>C | |
| ENST00000533482.5:c.*1114T>C | ENSP00000431225.1:n.*1114T>C | |
| NM_005732.3:c.1488T>C | NP_005723.2:p.Asn496= | |
| NM_005732.4:c.1488T>C MANE Select | NP_005723.2:p.Asn496= |