Linked Data
ClinVar Variation Id:
1909608
ClinVar RCV Id:
RCV002600354
dbSNP Id:
rs775485766
ExAC:
17:8025199 T / C
gnomAD v2:
17-8025199-T-C
gnomAD v4:
17-8121881-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121881T>C , CM000679.2:g.8121881T>C | GRCh38 |
| NC_000017.10:g.8025199T>C , CM000679.1:g.8025199T>C | GRCh37 |
| NC_000017.9:g.7965924T>C | NCBI36 |
| NG_015807.1:g.2036A>G | |
| NG_015816.1:g.7212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.383A>G MANE Select | ENSP00000446205.2:p.His128Arg | |
| ENST00000317814.8:c.368A>G | ENSP00000314774.4:p.His123Arg | |
| ENST00000541682.6:c.383A>G | ENSP00000446205.2:p.His128Arg | |
| ENST00000577735.1:c.359A>G | ENSP00000462491.1:p.His120Arg | |
| NM_001165967.1:c.383A>G | NP_001159439.1:p.His128Arg | |
| NM_032580.3:c.368A>G | NP_115969.2:p.His123Arg | |
| XM_011524038.1:c.488A>G | XP_011522340.1:p.His163Arg | |
| XM_011524039.1:c.479A>G | XP_011522341.1:p.His160Arg | |
| XM_011524040.1:c.479A>G | XP_011522342.1:p.His160Arg | |
| XM_011524041.1:c.470A>G | XP_011522343.1:p.His157Arg | |
| XM_011524042.1:c.341A>G | XP_011522344.1:p.His114Arg | |
| XR_934203.1:n.69+2067T>C | ||
| XM_017025232.1:c.488A>G | XP_016880721.1:p.His163Arg | |
| XM_024451007.1:c.488A>G | XP_024306775.1:p.His163Arg | |
| NM_001165967.2:c.383A>G MANE Select | NP_001159439.1:p.His128Arg | |
| NM_032580.4:c.368A>G | NP_115969.2:p.His123Arg |