Linked Data
ClinVar Variation Id:
801494
ClinVar RCV Id:
RCV000986326
dbSNP Id:
rs1193631220
gnomAD v4:
1-68429795-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429795C>A , CM000663.2:g.68429795C>A | GRCh38 |
| NC_000001.10:g.68895478C>A , CM000663.1:g.68895478C>A | GRCh37 |
| NC_000001.9:g.68668066C>A | NCBI36 |
| NG_008472.1:g.25165G>T | |
| NG_008472.2:g.25165G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1583G>T MANE Select | ENSP00000262340.5:p.Gly528Val | |
| ENST00000262340.5:c.1583G>T | ENSP00000262340.5:p.Gly528Val | |
| NM_000329.2:c.1583G>T | NP_000320.1:p.Gly528Val | |
| XM_017002027.1:c.1307G>T | XP_016857516.1:p.Gly436Val | |
| NM_000329.3:c.1583G>T MANE Select | NP_000320.1:p.Gly528Val |