Linked Data
ClinVar Variation Id:
1543237
ClinVar RCV Id:
RCV002169967
dbSNP Id:
rs765205689
MyVariant Identifiers:
chr9:g.6556240C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556240C>G , CM000671.2:g.6556240C>G | GRCh38 |
| NC_000009.11:g.6556240C>G , CM000671.1:g.6556240C>G | GRCh37 |
| NC_000009.10:g.6546240C>G | NCBI36 |
| NG_016397.1:g.94453G>C , LRG_643:g.94453G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2115G>C MANE Select | ENSP00000370737.4:p.Val705= | |
| ENST00000638233.1:n.550G>C | ||
| ENST00000638661.1:c.315G>C | ENSP00000491369.1:p.Val105= | |
| ENST00000638694.1:n.302G>C | ||
| ENST00000639318.1:c.315G>C | ENSP00000491932.1:p.Val105= | |
| ENST00000639364.1:n.1815G>C | ||
| ENST00000639443.1:n.1683G>C | ||
| ENST00000639954.1:n.1823G>C | ||
| ENST00000640505.1:n.354G>C | ||
| ENST00000321612.6:c.2115G>C | ENSP00000370737.3:p.Val705= | |
| NM_000170.2:c.2115G>C , LRG_643t1:c.2115G>C | NP_000161.2:p.Val705= | |
| NM_000170.3:c.2115G>C MANE Select | NP_000161.2:p.Val705= |