Linked Data
ClinVar Variation Id:
1002405
dbSNP Id:
rs766160698
gnomAD v2:
11-22646924-T-C
gnomAD v4:
11-22625378-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625378T>C , CM000673.2:g.22625378T>C | GRCh38 |
| NC_000011.9:g.22646924T>C , CM000673.1:g.22646924T>C | GRCh37 |
| NC_000011.8:g.22603500T>C | NCBI36 |
| NG_007425.1:g.5464A>G , LRG_527:g.5464A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.433A>G MANE Select | ENSP00000330875.3:p.Met145Val | |
| ENST00000327470.4:c.433A>G | ENSP00000330875.3:p.Met145Val | |
| NM_022725.3:c.433A>G , LRG_527t1:c.433A>G | NP_073562.1:p.Met145Val | |
| NM_022725.4:c.433A>G MANE Select | NP_073562.1:p.Met145Val |