Linked Data
ClinVar Variation Id:
2930833
ClinVar RCV Id:
RCV003790143
gnomAD v4:
1-17024069-C-T
MyVariant Identifiers:
chr1:g.17350564C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024069C>T , CM000663.2:g.17024069C>T | GRCh38 |
| NC_000001.10:g.17350564C>T , CM000663.1:g.17350564C>T | GRCh37 |
| NC_000001.9:g.17223151C>T | NCBI36 |
| NG_012340.1:g.35102G>A , LRG_316:g.35102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.375G>A | ENSP00000481376.2:p.Gly125= | |
| ENST00000491274.6:c.504G>A | ENSP00000480482.2:p.Gly168= | |
| ENST00000375499.8:c.546G>A MANE Select | ENSP00000364649.3:p.Gly182= | |
| ENST00000375499.7:c.546G>A | ENSP00000364649.3:p.Gly182= | |
| ENST00000485515.5:n.480G>A | ||
| ENST00000491274.5:c.504G>A | ENSP00000480482.1:p.Gly168= | |
| NM_003000.2:c.546G>A , LRG_316t1:c.546G>A | NP_002991.2:p.Gly182= | |
| NM_003000.3:c.546G>A MANE Select | NP_002991.2:p.Gly182= |