Linked Data
ClinVar Variation Id:
2389398
ClinVar RCV Id:
RCV004231569
dbSNP Id:
rs1429146161
gnomAD v2:
12-113905982-T-C
gnomAD v3:
12-113468177-T-C
gnomAD v4:
12-113468177-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.113468177T>C , CM000674.2:g.113468177T>C | GRCh38 |
| NC_000012.11:g.113905982T>C , CM000674.1:g.113905982T>C | GRCh37 |
| NC_000012.10:g.112390365T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261731.4:c.625A>G MANE Select | ENSP00000261731.2:p.Ile209Val | |
| ENST00000261731.3:c.625A>G | ENSP00000261731.2:p.Ile209Val | |
| NM_022363.2:c.625A>G | NP_071758.1:p.Ile209Val | |
| NM_022363.3:c.625A>G MANE Select | NP_071758.1:p.Ile209Val |