Linked Data
ClinVar Variation Id:
314749
ClinVar RCV Id:
RCV000353661
dbSNP Id:
rs755193670
ExAC:
14:88414185 T / C
gnomAD:
14:88414185 T / C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87947841T>C , CM000676.2:g.87947841T>C | GRCh38 |
| NC_000014.8:g.88414185T>C , CM000676.1:g.88414185T>C | GRCh37 |
| NC_000014.7:g.87483938T>C | NCBI36 |
| NG_011853.2:g.50723A>G | |
| NG_011853.3:g.50723A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1376A>G MANE Select | ENSP00000261304.2:p.His459Arg | |
| ENST00000261304.6:c.1376A>G | ENSP00000261304.2:p.His459Arg | |
| ENST00000393568.8:c.1307A>G | ENSP00000377198.4:p.His436Arg | |
| ENST00000393569.6:c.1298A>G | ENSP00000377199.2:p.His433Arg | |
| ENST00000544807.6:c.1208A>G | ENSP00000437513.2:p.His403Arg | |
| ENST00000555000.5:c.743A>G | ENSP00000450472.1:p.His248Arg | |
| ENST00000555179.1:n.93A>G | ||
| ENST00000557316.5:c.*774A>G | ENSP00000452314.1:p.= | |
| NM_000153.3:c.1376A>G | NP_000144.2:p.His459Arg | |
| NM_001201401.1:c.1307A>G | NP_001188330.1:p.His436Arg | |
| NM_001201402.1:c.1298A>G | NP_001188331.1:p.His433Arg | |
| XM_011536618.1:c.1208A>G | XP_011534920.1:p.His403Arg | |
| XM_011536618.2:c.1208A>G | XP_011534920.1:p.His403Arg | |
| NM_000153.4:c.1376A>G MANE Select | NP_000144.2:p.His459Arg | |
| NM_001201401.2:c.1307A>G | NP_001188330.1:p.His436Arg | |
| NM_001201402.2:c.1298A>G | NP_001188331.1:p.His433Arg |