Linked Data
ClinVar Variation Id:
1130341
dbSNP Id:
rs2077999274
gnomAD v4:
1-17027755-C-T
MyVariant Identifiers:
chr1:g.17354250C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027755C>T , CM000663.2:g.17027755C>T | GRCh38 |
| NC_000001.10:g.17354250C>T , CM000663.1:g.17354250C>T | GRCh37 |
| NC_000001.9:g.17226837C>T | NCBI36 |
| NG_012340.1:g.31416G>A , LRG_316:g.31416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.363G>A | ENSP00000481376.2:p.Glu121= | |
| ENST00000491274.6:c.492G>A | ENSP00000480482.2:p.Glu164= | |
| ENST00000375499.8:c.534G>A MANE Select | ENSP00000364649.3:p.Glu178= | |
| ENST00000375499.7:c.534G>A | ENSP00000364649.3:p.Glu178= | |
| ENST00000463045.2:c.363G>A | ENSP00000481376.1:p.Glu121= | |
| ENST00000475506.1:n.451G>A | ||
| ENST00000485515.5:n.468G>A | ||
| ENST00000491274.5:c.492G>A | ENSP00000480482.1:p.Glu164= | |
| NM_003000.2:c.534G>A , LRG_316t1:c.534G>A | NP_002991.2:p.Glu178= | |
| NM_003000.3:c.534G>A MANE Select | NP_002991.2:p.Glu178= |