Linked Data
ClinVar Variation Id:
776623
ClinVar RCV Id:
RCV000956958
dbSNP Id:
rs34264803
ExAC:
11:64563757 C / T
gnomAD v2:
11-64563757-C-T
gnomAD v3:
11-64796285-C-T
gnomAD v4:
11-64796285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64796285C>T , CM000673.2:g.64796285C>T | GRCh38 |
| NC_000011.9:g.64563757C>T , CM000673.1:g.64563757C>T | GRCh37 |
| NC_000011.8:g.64320333C>T | NCBI36 |
| NG_033040.1:g.11957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294066.7:c.1739G>A MANE Select | ENSP00000294066.2:p.Arg580His | |
| ENST00000294066.6:c.1739G>A | ENSP00000294066.2:p.Arg580His | |
| ENST00000377350.7:c.1715G>A | ENSP00000366567.3:p.Arg572His | |
| ENST00000424945.5:c.112G>A | ||
| ENST00000433890.5:c.1686G>A | ENSP00000413167.1:n.1686G>A | |
| ENST00000435926.5:c.*1539G>A | ENSP00000400594.1:n.*1539G>A | |
| ENST00000470088.5:n.508G>A | ||
| ENST00000489952.5:n.800G>A | ||
| NM_001307990.1:c.1715G>A | NP_001294919.1:p.Arg572His | |
| NM_004579.3:c.1739G>A | NP_004570.2:p.Arg580His | |
| NM_004579.4:c.1739G>A | NP_004570.2:p.Arg580His | |
| XM_011545202.1:c.1715G>A | XP_011543504.1:p.Arg572His | |
| XM_011545203.1:c.1739G>A | XP_011543505.1:p.Arg580His | |
| XM_011545204.1:c.1607G>A | XP_011543506.1:p.Arg536His | |
| XM_011545204.3:c.1607G>A | XP_011543506.1:p.Arg536His | |
| XM_017018093.2:c.1583G>A | XP_016873582.1:p.Arg528His | |
| XM_017018095.2:c.1208G>A | XP_016873584.1:p.Arg403His | |
| XM_024448629.1:c.1859G>A | XP_024304397.1:p.Arg620His | |
| XM_024448630.1:c.1859G>A | XP_024304398.1:p.Arg620His | |
| XM_024448631.1:c.1727G>A | XP_024304399.1:p.Arg576His | |
| XM_024448633.1:c.1328G>A | XP_024304401.1:p.Arg443His | |
| XM_024448634.1:c.1859G>A | XP_024304402.1:p.Arg620His | |
| XR_002957155.1:n.1953G>A | ||
| NM_004579.5:c.1739G>A MANE Select | NP_004570.2:p.Arg580His | |
| NM_001307990.2:c.1715G>A | NP_001294919.1:p.Arg572His |