Linked Data
ClinVar Variation Id:
1086803
ClinVar RCV Id:
RCV001404692
dbSNP Id:
rs768915904
ExAC:
1:68895480 A / G
gnomAD v2:
1-68895480-A-G
gnomAD v3:
1-68429797-A-G
gnomAD v4:
1-68429797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429797A>G , CM000663.2:g.68429797A>G | GRCh38 |
| NC_000001.10:g.68895480A>G , CM000663.1:g.68895480A>G | GRCh37 |
| NC_000001.9:g.68668068A>G | NCBI36 |
| NG_008472.1:g.25163T>C | |
| NG_008472.2:g.25163T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1581T>C MANE Select | ENSP00000262340.5:p.His527= | |
| ENST00000262340.5:c.1581T>C | ENSP00000262340.5:p.His527= | |
| NM_000329.2:c.1581T>C | NP_000320.1:p.His527= | |
| XM_017002027.1:c.1305T>C | XP_016857516.1:p.His435= | |
| NM_000329.3:c.1581T>C MANE Select | NP_000320.1:p.His527= |