Linked Data
ClinVar Variation Id:
586628
ClinVar RCV Id:
RCV001249781
dbSNP Id:
rs1164325688
gnomAD v3:
5-70951946-C-T
gnomAD v4:
5-70951946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70951946C>T , CM000667.2:g.70951946C>T | GRCh38 |
| NC_000005.9:g.70247773C>T , CM000667.1:g.70247773C>T | GRCh37 |
| NC_000005.8:g.70283529C>T | NCBI36 |
| NG_008691.1:g.32006C>T , LRG_676:g.32006C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380707.9:c.840C>T MANE Select | ENSP00000370083.4:p.Phe280= | |
| ENST00000351205.8:c.840C>T | ENSP00000305857.5:p.Phe280= | |
| ENST00000380707.8:c.840C>T | ENSP00000370083.4:p.Phe280= | |
| ENST00000503079.6:c.744C>T | ENSP00000428128.1:p.Phe248= | |
| ENST00000506163.5:c.835-493C>T | ENSP00000424926.1:n.835-493C>T | |
| ENST00000506239.6:c.*59-493C>T | ENSP00000422679.2:n.*59-493C>T | |
| ENST00000510679.1:n.94C>T | ||
| ENST00000514951.5:c.639C>T | ENSP00000423298.1:p.Phe213= | |
| NM_000344.3:c.840C>T , LRG_676t1:c.840C>T | NP_000335.1:p.Phe280= | |
| NM_001297715.1:c.835-493C>T | NP_001284644.1:n.835-493C>T | |
| NM_022874.2:c.744C>T | NP_075012.1:p.Phe248= | |
| XM_011543597.1:c.639C>T | XP_011541899.1:p.Phe213= | |
| XM_011543598.1:c.543C>T | XP_011541900.1:p.Phe181= | |
| XM_011543598.3:c.543C>T | XP_011541900.1:p.Phe181= | |
| XM_017009786.1:c.739-493C>T | XP_016865275.1:n.739-493C>T | |
| NM_000344.4:c.840C>T MANE Select | NP_000335.1:p.Phe280= |