Linked Data
ClinVar Variation Id:
659714
ClinVar RCV Id:
RCV000816758
dbSNP Id:
rs1271078955
gnomAD v2:
15-48703434-T-C
gnomAD v4:
15-48411237-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411237T>C , CM000677.2:g.48411237T>C | GRCh38 |
| NC_000015.9:g.48703434T>C , CM000677.1:g.48703434T>C | GRCh37 |
| NC_000015.8:g.46490726T>C | NCBI36 |
| NG_008805.2:g.239552A>G , LRG_778:g.239552A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1177A>G | ENSP00000453958.2:n.*1177A>G | |
| ENST00000674301.2:c.*1882A>G | ENSP00000501333.2:n.*1882A>G | |
| ENST00000682158.1:n.1750A>G | ||
| ENST00000682170.1:n.2550A>G | ||
| ENST00000682767.1:n.1666A>G | ||
| ENST00000316623.10:c.8369A>G MANE Select | ENSP00000325527.5:p.His2790Arg | |
| ENST00000674301.1:c.3535A>G | ENSP00000501333.1:n.3535A>G | |
| ENST00000316623.9:c.8369A>G | ENSP00000325527.5:p.His2790Arg | |
| ENST00000559133.5:c.3738A>G | ||
| ENST00000561429.1:n.624A>G | ||
| NM_000138.4:c.8369A>G , LRG_778t1:c.8369A>G | NP_000129.3:p.His2790Arg | |
| NM_000138.5:c.8369A>G MANE Select | NP_000129.3:p.His2790Arg |