Linked Data
ClinVar Variation Id:
1798372
ClinVar RCV Id:
RCV002442186
MyVariant Identifiers:
chr1:g.17355221G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028726G>C , CM000663.2:g.17028726G>C | GRCh38 |
| NC_000001.10:g.17355221G>C , CM000663.1:g.17355221G>C | GRCh37 |
| NC_000001.9:g.17227808G>C | NCBI36 |
| NG_012340.1:g.30445C>G , LRG_316:g.30445C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.126C>G | ENSP00000481376.2:p.Gly42= | |
| ENST00000491274.6:c.255C>G | ENSP00000480482.2:p.Gly85= | |
| ENST00000375499.8:c.297C>G MANE Select | ENSP00000364649.3:p.Gly99= | |
| ENST00000375499.7:c.297C>G | ENSP00000364649.3:p.Gly99= | |
| ENST00000463045.2:c.126C>G | ENSP00000481376.1:p.Gly42= | |
| ENST00000475506.1:n.214C>G | ||
| ENST00000485515.5:n.285C>G | ||
| ENST00000491274.5:c.255C>G | ENSP00000480482.1:p.Gly85= | |
| NM_003000.2:c.297C>G , LRG_316t1:c.297C>G | NP_002991.2:p.Gly99= | |
| NM_003000.3:c.297C>G MANE Select | NP_002991.2:p.Gly99= |