Linked Data
ClinVar Variation Id:
2032208
ClinVar RCV Id:
RCV002876815
MyVariant Identifiers:
chr9:g.6558628T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558628T>A , CM000671.2:g.6558628T>A | GRCh38 |
| NC_000009.11:g.6558628T>A , CM000671.1:g.6558628T>A | GRCh37 |
| NC_000009.10:g.6548628T>A | NCBI36 |
| NG_016397.1:g.92065A>T , LRG_643:g.92065A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1983A>T MANE Select | ENSP00000370737.4:p.Ala661= | |
| ENST00000460457.2:n.143A>T | ||
| ENST00000638233.1:n.418A>T | ||
| ENST00000638661.1:c.183A>T | ENSP00000491369.1:p.Ala61= | |
| ENST00000638694.1:n.170A>T | ||
| ENST00000639318.1:c.183A>T | ENSP00000491932.1:p.Ala61= | |
| ENST00000639364.1:n.1683A>T | ||
| ENST00000639443.1:n.1551A>T | ||
| ENST00000639954.1:n.1691A>T | ||
| ENST00000640208.1:c.183A>T | ENSP00000491895.1:p.Ala61= | |
| ENST00000640505.1:n.222A>T | ||
| ENST00000640592.1:n.1866A>T | ||
| ENST00000321612.6:c.1983A>T | ENSP00000370737.3:p.Ala661= | |
| ENST00000460457.1:n.122A>T | ||
| NM_000170.2:c.1983A>T , LRG_643t1:c.1983A>T | NP_000161.2:p.Ala661= | |
| NM_000170.3:c.1983A>T MANE Select | NP_000161.2:p.Ala661= |