Linked Data
ClinVar Variation Id:
848310
ClinVar RCV Id:
RCV001052037
dbSNP Id:
rs772583552
gnomAD v4:
15-71811538-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811538C>G , CM000677.2:g.71811538C>G | GRCh38 |
| NC_000015.9:g.72103878C>G , CM000677.1:g.72103878C>G | GRCh37 |
| NC_000015.8:g.69890932C>G | NCBI36 |
| NG_009113.2:g.5984C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.174C>G MANE Select | ENSP00000482504.1:p.His58Gln | |
| ENST00000617575.4:c.174C>G | ENSP00000482504.1:p.His58Gln | |
| ENST00000621098.1:c.174C>G | ENSP00000479962.1:p.His58Gln | |
| ENST00000621736.4:c.-91C>G | ENSP00000479254.1:n.-91C>G | |
| NM_014249.3:c.174C>G | NP_055064.1:p.His58Gln | |
| NM_016346.3:c.174C>G | NP_057430.1:p.His58Gln | |
| XM_011521146.1:c.-91C>G | XP_011519448.1:n.-91C>G | |
| NM_014249.4:c.174C>G MANE Select | NP_055064.1:p.His58Gln | |
| NM_016346.4:c.174C>G | NP_057430.1:p.His58Gln |