Linked Data
ClinVar Variation Id:
1547379
ClinVar RCV Id:
RCV002173407
dbSNP Id:
rs769814819
gnomAD v4:
1-68429914-A-G
MyVariant Identifiers:
chr1:g.68895597A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429914A>G , CM000663.2:g.68429914A>G | GRCh38 |
| NC_000001.10:g.68895597A>G , CM000663.1:g.68895597A>G | GRCh37 |
| NC_000001.9:g.68668185A>G | NCBI36 |
| NG_008472.1:g.25046T>C | |
| NG_008472.2:g.25046T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1464T>C MANE Select | ENSP00000262340.5:p.Ser488= | |
| ENST00000262340.5:c.1464T>C | ENSP00000262340.5:p.Ser488= | |
| NM_000329.2:c.1464T>C | NP_000320.1:p.Ser488= | |
| XM_017002027.1:c.1188T>C | XP_016857516.1:p.Ser396= | |
| NM_000329.3:c.1464T>C MANE Select | NP_000320.1:p.Ser488= |