Linked Data
ClinVar Variation Id:
1541866
ClinVar RCV Id:
RCV002164804
dbSNP Id:
rs1817630045
MyVariant Identifiers:
chr9:g.6556294C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556294C>T , CM000671.2:g.6556294C>T | GRCh38 |
| NC_000009.11:g.6556294C>T , CM000671.1:g.6556294C>T | GRCh37 |
| NC_000009.10:g.6546294C>T | NCBI36 |
| NG_016397.1:g.94399G>A , LRG_643:g.94399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2061G>A MANE Select | ENSP00000370737.4:p.Lys687= | |
| ENST00000638233.1:n.496G>A | ||
| ENST00000638661.1:c.261G>A | ENSP00000491369.1:p.Lys87= | |
| ENST00000638694.1:n.248G>A | ||
| ENST00000639318.1:c.261G>A | ENSP00000491932.1:p.Lys87= | |
| ENST00000639364.1:n.1761G>A | ||
| ENST00000639443.1:n.1629G>A | ||
| ENST00000639954.1:n.1769G>A | ||
| ENST00000640505.1:n.300G>A | ||
| ENST00000321612.6:c.2061G>A | ENSP00000370737.3:p.Lys687= | |
| NM_000170.2:c.2061G>A , LRG_643t1:c.2061G>A | NP_000161.2:p.Lys687= | |
| NM_000170.3:c.2061G>A MANE Select | NP_000161.2:p.Lys687= |