Linked Data
ClinVar Variation Id:
2390158
ClinVar RCV Id:
RCV004227414
dbSNP Id:
rs756799477
ExAC:
4:72622621 T / C
gnomAD v2:
4-72622621-T-C
gnomAD v3:
4-71756904-T-C
gnomAD v4:
4-71756904-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71756904T>C , CM000666.2:g.71756904T>C | GRCh38 |
| NC_000004.11:g.72622621T>C , CM000666.1:g.72622621T>C | GRCh37 |
| NC_000004.10:g.72841485T>C | NCBI36 |
| NG_012837.2:g.53617A>G | |
| NG_012837.3:g.53617A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.13:c.842A>G MANE Select | ENSP00000273951.8:p.His281Arg | |
| ENST00000273951.12:c.842A>G | ENSP00000273951.8:p.His281Arg | |
| ENST00000503472.5:n.726A>G | ||
| ENST00000504199.5:c.899A>G | ENSP00000421725.1:p.His300Arg | |
| ENST00000509740.5:c.842A>G | ENSP00000422664.1:p.His281Arg | |
| ENST00000513476.5:c.842A>G | ENSP00000426683.1:p.His281Arg | |
| NM_000583.3:c.842A>G | NP_000574.2:p.His281Arg | |
| NM_001204306.1:c.842A>G | NP_001191235.1:p.His281Arg | |
| NM_001204307.1:c.899A>G | NP_001191236.1:p.His300Arg | |
| XM_006714177.2:c.842A>G | XP_006714240.1:p.His281Arg | |
| XM_006714177.3:c.842A>G | XP_006714240.1:p.His281Arg | |
| NM_000583.4:c.842A>G MANE Select | NP_000574.2:p.His281Arg |