Linked Data
ClinVar Variation Id:
1959611
ClinVar RCV Id:
RCV002701362
dbSNP Id:
rs1244376115
gnomAD v2:
11-22646928-C-T
gnomAD v4:
11-22625382-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625382C>T , CM000673.2:g.22625382C>T | GRCh38 |
| NC_000011.9:g.22646928C>T , CM000673.1:g.22646928C>T | GRCh37 |
| NC_000011.8:g.22603504C>T | NCBI36 |
| NG_007425.1:g.5460G>A , LRG_527:g.5460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.429G>A MANE Select | ENSP00000330875.3:p.Val143= | |
| ENST00000327470.4:c.429G>A | ENSP00000330875.3:p.Val143= | |
| NM_022725.3:c.429G>A , LRG_527t1:c.429G>A | NP_073562.1:p.Val143= | |
| NM_022725.4:c.429G>A MANE Select | NP_073562.1:p.Val143= |