Linked Data
ClinVar Variation Id:
1409289
ClinVar RCV Id:
RCV001930346
dbSNP Id:
rs1177443868
gnomAD v4:
11-22624945-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624945A>G , CM000673.2:g.22624945A>G | GRCh38 |
| NC_000011.9:g.22646491A>G , CM000673.1:g.22646491A>G | GRCh37 |
| NC_000011.8:g.22603067A>G | NCBI36 |
| NG_007425.1:g.5897T>C , LRG_527:g.5897T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.866T>C MANE Select | ENSP00000330875.3:p.Leu289Pro | |
| ENST00000327470.4:c.866T>C | ENSP00000330875.3:p.Leu289Pro | |
| NM_022725.3:c.866T>C , LRG_527t1:c.866T>C | NP_073562.1:p.Leu289Pro | |
| NM_022725.4:c.866T>C MANE Select | NP_073562.1:p.Leu289Pro |