Linked Data
ClinVar Variation Id:
809126
ClinVar RCV Id:
RCV001142133
dbSNP Id:
rs572245704
ExAC:
2:190428328 C / T
gnomAD v2:
2-190428328-C-T
gnomAD v3:
2-189563602-C-T
gnomAD v4:
2-189563602-C-T
COSMIC:
COSM6279936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563602C>T , CM000664.2:g.189563602C>T | GRCh38 |
| NC_000002.11:g.190428328C>T , CM000664.1:g.190428328C>T | GRCh37 |
| NC_000002.10:g.190136573C>T | NCBI36 |
| NG_009027.1:g.22210G>A , LRG_837:g.22210G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1384G>A MANE Select | ENSP00000261024.3:p.Val462Ile | |
| ENST00000261024.6:c.1384G>A | ENSP00000261024.2:p.Val462Ile | |
| NM_014585.5:c.1384G>A , LRG_837t1:c.1384G>A | NP_055400.1:p.Val462Ile | |
| XM_005246505.1:c.1264G>A | XP_005246562.1:p.Val422Ile | |
| XM_005246505.2:c.1264G>A | XP_005246562.1:p.Val422Ile | |
| XM_017003938.2:c.1264G>A | XP_016859427.1:p.Val422Ile | |
| NM_014585.6:c.1384G>A MANE Select | NP_055400.1:p.Val462Ile |