Linked Data
ClinVar Variation Id:
1573522
ClinVar RCV Id:
RCV002216103
dbSNP Id:
rs2078100833
gnomAD v3:
1-17044874-G-C
gnomAD v4:
1-17044874-G-C
MyVariant Identifiers:
chr1:g.17371369G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044874G>C , CM000663.2:g.17044874G>C | GRCh38 |
| NC_000001.10:g.17371369G>C , CM000663.1:g.17371369G>C | GRCh37 |
| NC_000001.9:g.17243956G>C | NCBI36 |
| NG_012340.1:g.14297C>G , LRG_316:g.14297C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-85C>G | ENSP00000481376.2:n.-85C>G | |
| ENST00000491274.6:c.45C>G | ENSP00000480482.2:p.Ala15= | |
| ENST00000375499.8:c.87C>G MANE Select | ENSP00000364649.3:p.Ala29= | |
| ENST00000375499.7:c.87C>G | ENSP00000364649.3:p.Ala29= | |
| ENST00000463045.2:c.-85C>G | ENSP00000481376.1:n.-85C>G | |
| ENST00000466613.2:n.99C>G | ||
| ENST00000475506.1:n.4C>G | ||
| ENST00000485515.5:n.75C>G | ||
| ENST00000491274.5:c.45C>G | ENSP00000480482.1:p.Ala15= | |
| NM_003000.2:c.87C>G , LRG_316t1:c.87C>G | NP_002991.2:p.Ala29= | |
| NM_003000.3:c.87C>G MANE Select | NP_002991.2:p.Ala29= |