Linked Data
ClinVar Variation Id:
495827
dbSNP Id:
rs1482083567
gnomAD v2:
5-70247774-A-C
gnomAD v4:
5-70951947-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70951947A>C , CM000667.2:g.70951947A>C | GRCh38 |
| NC_000005.9:g.70247774A>C , CM000667.1:g.70247774A>C | GRCh37 |
| NC_000005.8:g.70283530A>C | NCBI36 |
| NG_008691.1:g.32007A>C , LRG_676:g.32007A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380707.9:c.841A>C MANE Select | ENSP00000370083.4:p.Arg281= | |
| ENST00000351205.8:c.841A>C | ENSP00000305857.5:p.Arg281= | |
| ENST00000380707.8:c.841A>C | ENSP00000370083.4:p.Arg281= | |
| ENST00000503079.6:c.745A>C | ENSP00000428128.1:p.Arg249= | |
| ENST00000506163.5:c.835-492A>C | ENSP00000424926.1:n.835-492A>C | |
| ENST00000506239.6:c.*59-492A>C | ENSP00000422679.2:n.*59-492A>C | |
| ENST00000510679.1:n.95A>C | ||
| ENST00000514951.5:c.640A>C | ENSP00000423298.1:p.Arg214= | |
| NM_000344.3:c.841A>C , LRG_676t1:c.841A>C | NP_000335.1:p.Arg281= | |
| NM_001297715.1:c.835-492A>C | NP_001284644.1:n.835-492A>C | |
| NM_022874.2:c.745A>C | NP_075012.1:p.Arg249= | |
| XM_011543597.1:c.640A>C | XP_011541899.1:p.Arg214= | |
| XM_011543598.1:c.544A>C | XP_011541900.1:p.Arg182= | |
| XM_011543598.3:c.544A>C | XP_011541900.1:p.Arg182= | |
| XM_017009786.1:c.739-492A>C | XP_016865275.1:n.739-492A>C | |
| NM_000344.4:c.841A>C MANE Select | NP_000335.1:p.Arg281= |