Linked Data
ClinVar Variation Id:
2941661
ClinVar RCV Id:
RCV003802683
dbSNP Id:
rs1645806872
gnomAD v4:
1-68429782-T-C
MyVariant Identifiers:
chr1:g.68895465T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429782T>C , CM000663.2:g.68429782T>C | GRCh38 |
| NC_000001.10:g.68895465T>C , CM000663.1:g.68895465T>C | GRCh37 |
| NC_000001.9:g.68668053T>C | NCBI36 |
| NG_008472.1:g.25178A>G | |
| NG_008472.2:g.25178A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1596A>G MANE Select | ENSP00000262340.5:p.Lys532= | |
| ENST00000262340.5:c.1596A>G | ENSP00000262340.5:p.Lys532= | |
| NM_000329.2:c.1596A>G | NP_000320.1:p.Lys532= | |
| XM_017002027.1:c.1320A>G | XP_016857516.1:p.Lys440= | |
| NM_000329.3:c.1596A>G MANE Select | NP_000320.1:p.Lys532= |