Linked Data
ClinVar Variation Id:
39680
ClinVar RCV Id:
RCV000032884
dbSNP Id:
rs373856119
ExAC:
8:38109734 C / T
gnomAD v2:
8-38109734-C-T
gnomAD v3:
8-38252216-C-T
gnomAD v4:
8-38252216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38252216C>T , CM000670.2:g.38252216C>T | GRCh38 |
| NC_000008.10:g.38109734C>T , CM000670.1:g.38109734C>T | GRCh37 |
| NC_000008.9:g.38228891C>T | NCBI36 |
| NG_033875.1:g.25726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.1546C>T MANE Select | ENSP00000380352.2:p.Arg516Ter | |
| ENST00000397166.6:c.1546C>T | ENSP00000380352.2:p.Arg516Ter | |
| ENST00000517385.5:c.403C>T | ENSP00000429017.1:p.Arg135Ter | |
| ENST00000520176.5:n.2335C>T | ||
| ENST00000520272.6:c.1546C>T | ENSP00000429932.2:p.Arg516Ter | |
| ENST00000524545.1:n.6C>T | ||
| ENST00000526144.1:c.51C>T | ||
| ENST00000528148.1:n.119C>T | ||
| ENST00000528504.5:n.538C>T | ||
| ENST00000529845.5:c.-82C>T | ENSP00000431638.1:n.-82C>T | |
| NM_001164232.1:c.1546C>T | NP_001157704.1:p.Arg516Ter | |
| NM_015214.2:c.1546C>T | NP_056029.2:p.Arg516Ter | |
| XM_005273454.1:c.1546C>T | XP_005273511.1:p.Arg516Ter | |
| XM_005273455.2:c.1546C>T | XP_005273512.1:p.Arg516Ter | |
| XM_005273456.2:c.1456C>T | XP_005273513.1:p.Arg486Ter | |
| XM_005273457.2:c.403C>T | XP_005273514.1:p.Arg135Ter | |
| XM_011544455.1:c.1546C>T | XP_011542757.1:p.Arg516Ter | |
| XM_011544456.1:c.1546C>T | XP_011542758.1:p.Arg516Ter | |
| XR_247123.1:n.2003C>T | ||
| XR_949383.1:n.2071C>T | ||
| XR_949384.1:n.2071C>T | ||
| XR_949385.1:n.2071C>T | ||
| XR_949386.1:n.2071C>T | ||
| XR_949387.1:n.2071C>T | ||
| NM_001362911.1:c.1546C>T | NP_001349840.1:p.Arg516Ter | |
| NM_001362912.1:c.1546C>T | NP_001349841.1:p.Arg516Ter | |
| NM_001362913.1:c.1456C>T | NP_001349842.1:p.Arg486Ter | |
| NM_001362914.1:c.1546C>T | NP_001349843.1:p.Arg516Ter | |
| NR_156416.1:n.1855C>T | ||
| NR_156417.1:n.1855C>T | ||
| XM_011544456.2:c.1546C>T | XP_011542758.1:p.Arg516Ter | |
| XM_017013255.2:c.403C>T | XP_016868744.1:p.Arg135Ter | |
| XR_001745504.2:n.1829C>T | ||
| XR_001745506.2:n.1761C>T | ||
| NM_001362911.2:c.1546C>T | NP_001349840.1:p.Arg516Ter | |
| NM_001362912.2:c.1546C>T | NP_001349841.1:p.Arg516Ter | |
| NM_015214.3:c.1546C>T MANE Select | NP_056029.2:p.Arg516Ter | |
| NR_156417.2:n.1761C>T | ||
| NM_001164232.2:c.1546C>T | NP_001157704.1:p.Arg516Ter | |
| NM_001362913.2:c.1456C>T | NP_001349842.1:p.Arg486Ter | |
| NM_001362914.2:c.1546C>T | NP_001349843.1:p.Arg516Ter | |
| NR_156416.2:n.1761C>T |