Linked Data
ClinVar Variation Id:
841793
dbSNP Id:
rs190761343
ExAC:
1:68895528 A / C
gnomAD v2:
1-68895528-A-C
gnomAD v3:
1-68429845-A-C
gnomAD v4:
1-68429845-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429845A>C , CM000663.2:g.68429845A>C | GRCh38 |
| NC_000001.10:g.68895528A>C , CM000663.1:g.68895528A>C | GRCh37 |
| NC_000001.9:g.68668116A>C | NCBI36 |
| NG_008472.1:g.25115T>G | |
| NG_008472.2:g.25115T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1533T>G MANE Select | ENSP00000262340.5:p.Ser511Arg | |
| ENST00000262340.5:c.1533T>G | ENSP00000262340.5:p.Ser511Arg | |
| NM_000329.2:c.1533T>G | NP_000320.1:p.Ser511Arg | |
| XM_017002027.1:c.1257T>G | XP_016857516.1:p.Ser419Arg | |
| NM_000329.3:c.1533T>G MANE Select | NP_000320.1:p.Ser511Arg |