Linked Data
ClinVar Variation Id:
1634874
ClinVar RCV Id:
RCV002142970
dbSNP Id:
rs1817628881
MyVariant Identifiers:
chr9:g.6556243C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556243C>T , CM000671.2:g.6556243C>T | GRCh38 |
| NC_000009.11:g.6556243C>T , CM000671.1:g.6556243C>T | GRCh37 |
| NC_000009.10:g.6546243C>T | NCBI36 |
| NG_016397.1:g.94450G>A , LRG_643:g.94450G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2112G>A MANE Select | ENSP00000370737.4:p.Gly704= | |
| ENST00000638233.1:n.547G>A | ||
| ENST00000638661.1:c.312G>A | ENSP00000491369.1:p.Gly104= | |
| ENST00000638694.1:n.299G>A | ||
| ENST00000639318.1:c.312G>A | ENSP00000491932.1:p.Gly104= | |
| ENST00000639364.1:n.1812G>A | ||
| ENST00000639443.1:n.1680G>A | ||
| ENST00000639954.1:n.1820G>A | ||
| ENST00000640505.1:n.351G>A | ||
| ENST00000321612.6:c.2112G>A | ENSP00000370737.3:p.Gly704= | |
| NM_000170.2:c.2112G>A , LRG_643t1:c.2112G>A | NP_000161.2:p.Gly704= | |
| NM_000170.3:c.2112G>A MANE Select | NP_000161.2:p.Gly704= |