Linked Data
ClinVar Variation Id:
1086495
ClinVar RCV Id:
RCV001404299
dbSNP Id:
rs2100827903
MyVariant Identifiers:
chr1:g.68910337T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444654T>G , CM000663.2:g.68444654T>G | GRCh38 |
| NC_000001.10:g.68910337T>G , CM000663.1:g.68910337T>G | GRCh37 |
| NC_000001.9:g.68682925T>G | NCBI36 |
| NG_008472.1:g.10306A>C | |
| NG_008472.2:g.10306A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.372A>C MANE Select | ENSP00000262340.5:p.Arg124= | |
| ENST00000262340.5:c.372A>C | ENSP00000262340.5:p.Arg124= | |
| NM_000329.2:c.372A>C | NP_000320.1:p.Arg124= | |
| XM_017002027.1:c.96A>C | XP_016857516.1:p.Arg32= | |
| NM_000329.3:c.372A>C MANE Select | NP_000320.1:p.Arg124= |