Linked Data
ClinVar Variation Id:
2851486
ClinVar RCV Id:
RCV003638002
dbSNP Id:
rs1417618535
gnomAD v2:
11-22646693-A-G
gnomAD v4:
11-22625147-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625147A>G , CM000673.2:g.22625147A>G | GRCh38 |
| NC_000011.9:g.22646693A>G , CM000673.1:g.22646693A>G | GRCh37 |
| NC_000011.8:g.22603269A>G | NCBI36 |
| NG_007425.1:g.5695T>C , LRG_527:g.5695T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.664T>C MANE Select | ENSP00000330875.3:p.Leu222= | |
| ENST00000327470.4:c.664T>C | ENSP00000330875.3:p.Leu222= | |
| NM_022725.3:c.664T>C , LRG_527t1:c.664T>C | NP_073562.1:p.Leu222= | |
| NM_022725.4:c.664T>C MANE Select | NP_073562.1:p.Leu222= |