Linked Data
ClinVar Variation Id:
1697948
dbSNP Id:
rs2101513893
gnomAD v4:
1-17022689-C-T
MyVariant Identifiers:
chr1:g.17349184C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022689C>T , CM000663.2:g.17022689C>T | GRCh38 |
| NC_000001.10:g.17349184C>T , CM000663.1:g.17349184C>T | GRCh37 |
| NC_000001.9:g.17221771C>T | NCBI36 |
| NG_012340.1:g.36482G>A , LRG_316:g.36482G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.513G>A | ENSP00000481376.2:p.Glu171= | |
| ENST00000491274.6:c.642G>A | ENSP00000480482.2:p.Glu214= | |
| ENST00000375499.8:c.684G>A MANE Select | ENSP00000364649.3:p.Glu228= | |
| ENST00000375499.7:c.684G>A | ENSP00000364649.3:p.Glu228= | |
| ENST00000475049.5:n.109G>A | ||
| ENST00000485092.5:n.348G>A | ||
| ENST00000485515.5:n.618G>A | ||
| NM_003000.2:c.684G>A , LRG_316t1:c.684G>A | NP_002991.2:p.Glu228= | |
| NM_003000.3:c.684G>A MANE Select | NP_002991.2:p.Glu228= |