Linked Data
ClinVar Variation Id:
189251
ClinVar RCV Id:
RCV000169684
RCV000509458
RCV000514926
RCV001199167
RCV001536034
RCV002467643
RCV002515205
RCV004528924
dbSNP Id:
rs71530923
ExAC:
4:6279306 C / T
gnomAD v2:
4-6279306-C-T
gnomAD v3:
4-6277579-C-T
gnomAD v4:
4-6277579-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6277579C>T , CM000666.2:g.6277579C>T | GRCh38 |
| NC_000004.11:g.6279306C>T , CM000666.1:g.6279306C>T | GRCh37 |
| NC_000004.10:g.6330207C>T | NCBI36 |
| NG_011700.1:g.12730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506588.6:n.294C>T | ||
| ENST00000682059.1:c.124C>T | ENSP00000507988.1:p.Arg42Ter | |
| ENST00000682275.1:c.124C>T | ENSP00000507852.1:p.Arg42Ter | |
| ENST00000683395.1:c.114C>T | ||
| ENST00000684054.1:c.124C>T | ENSP00000507120.1:p.Arg42Ter | |
| ENST00000684087.1:c.124C>T | ENSP00000506978.1:p.Arg42Ter | |
| ENST00000684700.1:c.124C>T | ENSP00000507806.1:p.Arg42Ter | |
| ENST00000506362.2:c.-18+7565C>T | ENSP00000424103.2:n.-18+7565C>T | |
| ENST00000673991.1:c.124C>T | ENSP00000501033.1:p.Arg42Ter | |
| ENST00000674051.1:c.66+58C>T | ENSP00000501083.1:n.66+58C>T | |
| ENST00000226760.5:c.124C>T MANE Select | ENSP00000226760.1:p.Arg42Ter | |
| ENST00000503569.5:c.124C>T | ENSP00000423337.1:p.Arg42Ter | |
| ENST00000506588.5:n.294C>T | ||
| NM_001145853.1:c.124C>T | NP_001139325.1:p.Arg42Ter | |
| NM_006005.3:c.124C>T MANE Select | NP_005996.2:p.Arg42Ter | |
| XM_017008586.1:c.133C>T | XP_016864075.1:p.Arg45Ter |