Linked Data
ClinVar Variation Id:
721414
ClinVar RCV Id:
RCV000894922
dbSNP Id:
rs193220943
ExAC:
3:124456440 T / A
gnomAD v2:
3-124456440-T-A
gnomAD v3:
3-124737593-T-A
gnomAD v4:
3-124737593-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124737593T>A , CM000665.2:g.124737593T>A | GRCh38 |
| NC_000003.11:g.124456440T>A , CM000665.1:g.124456440T>A | GRCh37 |
| NC_000003.10:g.125939130T>A | NCBI36 |
| NG_017037.1:g.12228T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000232607.7:c.336T>A MANE Select | ENSP00000232607.2:p.Thr112= | |
| ENST00000232607.6:c.336T>A | ENSP00000232607.2:p.Thr112= | |
| ENST00000460034.5:c.*80T>A | ENSP00000420409.1:n.*80T>A | |
| ENST00000462091.5:c.*8T>A | ENSP00000417893.1:n.*8T>A | |
| ENST00000467167.5:c.*234T>A | ENSP00000419618.1:n.*234T>A | |
| ENST00000474588.5:c.311-322T>A | ENSP00000420348.1:n.311-322T>A | |
| ENST00000479719.5:c.336T>A | ENSP00000420754.1:p.Thr112= | |
| ENST00000497791.5:c.*8T>A | ENSP00000419121.1:n.*8T>A | |
| ENST00000498715.1:n.54T>A | ||
| NM_000373.3:c.336T>A | NP_000364.1:p.Thr112= | |
| NR_033434.1:n.288T>A | ||
| NR_033437.1:n.541T>A | ||
| XR_001740253.2:n.366T>A | ||
| NM_000373.4:c.336T>A MANE Select | NP_000364.1:p.Thr112= | |
| NR_033434.2:n.202T>A | ||
| NR_033437.2:n.455T>A |