Linked Data
ClinVar Variation Id:
1572504
ClinVar RCV Id:
RCV002219806
dbSNP Id:
rs2101520907
MyVariant Identifiers:
chr1:g.154543992C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571516C>G , CM000663.2:g.154571516C>G | GRCh38 |
| NC_000001.10:g.154543992C>G , CM000663.1:g.154543992C>G | GRCh37 |
| NC_000001.9:g.152810616C>G | NCBI36 |
| NG_008027.1:g.8736C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.693C>G MANE Select | ENSP00000357461.3:p.Arg231= | |
| ENST00000636034.1:c.693C>G | ENSP00000489703.1:p.Arg231= | |
| ENST00000637900.1:c.699C>G | ENSP00000490474.1:p.Arg233= | |
| ENST00000368476.3:c.693C>G | ENSP00000357461.3:p.Arg231= | |
| NM_000748.2:c.693C>G | NP_000739.1:p.Arg231= | |
| XM_017000180.2:c.183C>G | XP_016855669.1:p.Arg61= | |
| XR_001736952.2:n.945C>G | ||
| NM_000748.3:c.693C>G MANE Select | NP_000739.1:p.Arg231= |