Linked Data
ClinVar Variation Id:
520646
ClinVar RCV Id:
RCV000624273
dbSNP Id:
rs761024923
ExAC:
2:191114373 T / C
gnomAD v2:
2-191114373-T-C
gnomAD v3:
2-190249647-T-C
gnomAD v4:
2-190249647-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190249647T>C , CM000664.2:g.190249647T>C | GRCh38 |
| NC_000002.11:g.191114373T>C , CM000664.1:g.191114373T>C | GRCh37 |
| NC_000002.10:g.190822618T>C | NCBI36 |
| NG_017062.1:g.75399A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359678.10:c.743A>G MANE Select | ENSP00000352706.5:p.His248Arg | |
| ENST00000359678.9:c.743A>G | ENSP00000352706.5:p.His248Arg | |
| ENST00000392332.7:c.743A>G | ENSP00000376144.3:p.His248Arg | |
| ENST00000392333.7:c.360A>G | ||
| ENST00000409820.2:c.83A>G | ENSP00000387098.2:p.His28Arg | |
| ENST00000410045.5:c.74A>G | ENSP00000386274.1:p.His25Arg | |
| ENST00000485992.1:n.364A>G | ||
| ENST00000622246.4:c.725A>G | ENSP00000481055.1:p.His242Arg | |
| NM_014362.3:c.743A>G | NP_055177.2:p.His248Arg | |
| NM_198047.2:c.743A>G | NP_932164.1:p.His248Arg | |
| XM_011510953.1:c.743A>G | XP_011509255.1:p.His248Arg | |
| XM_011510954.1:c.245A>G | XP_011509256.1:p.His82Arg | |
| XR_922903.1:n.987A>G | ||
| XM_011510953.2:c.743A>G | XP_011509255.1:p.His248Arg | |
| XR_922903.2:n.806A>G | ||
| NM_014362.4:c.743A>G MANE Select | NP_055177.2:p.His248Arg | |
| NM_198047.3:c.743A>G | NP_932164.1:p.His248Arg |