Linked Data
ClinVar Variation Id:
2814390
ClinVar RCV Id:
RCV003625231
MyVariant Identifiers:
chr9:g.6558682A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558682A>C , CM000671.2:g.6558682A>C | GRCh38 |
| NC_000009.11:g.6558682A>C , CM000671.1:g.6558682A>C | GRCh37 |
| NC_000009.10:g.6548682A>C | NCBI36 |
| NG_016397.1:g.92011T>G , LRG_643:g.92011T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1929T>G MANE Select | ENSP00000370737.4:p.Val643= | |
| ENST00000460457.2:n.89T>G | ||
| ENST00000638233.1:n.364T>G | ||
| ENST00000638661.1:c.129T>G | ENSP00000491369.1:p.Val43= | |
| ENST00000638694.1:n.116T>G | ||
| ENST00000639318.1:c.129T>G | ENSP00000491932.1:p.Val43= | |
| ENST00000639364.1:n.1629T>G | ||
| ENST00000639443.1:n.1497T>G | ||
| ENST00000639954.1:n.1637T>G | ||
| ENST00000640208.1:c.129T>G | ENSP00000491895.1:p.Val43= | |
| ENST00000640505.1:n.168T>G | ||
| ENST00000640592.1:n.1812T>G | ||
| ENST00000321612.6:c.1929T>G | ENSP00000370737.3:p.Val643= | |
| ENST00000460457.1:n.68T>G | ||
| NM_000170.2:c.1929T>G , LRG_643t1:c.1929T>G | NP_000161.2:p.Val643= | |
| NM_000170.3:c.1929T>G MANE Select | NP_000161.2:p.Val643= |