Linked Data
ClinVar Variation Id:
2057589
ClinVar RCV Id:
RCV002914899
dbSNP Id:
rs1453956325
gnomAD v2:
2-190430183-C-T
gnomAD v3:
2-189565457-C-T
gnomAD v4:
2-189565457-C-T
COSMIC:
COSM2712170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565457C>T , CM000664.2:g.189565457C>T | GRCh38 |
| NC_000002.11:g.190430183C>T , CM000664.1:g.190430183C>T | GRCh37 |
| NC_000002.10:g.190138428C>T | NCBI36 |
| NG_009027.1:g.20355G>A , LRG_837:g.20355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.657G>A MANE Select | ENSP00000261024.3:p.Glu219= | |
| ENST00000261024.6:c.657G>A | ENSP00000261024.2:p.Glu219= | |
| NM_014585.5:c.657G>A , LRG_837t1:c.657G>A | NP_055400.1:p.Glu219= | |
| XM_005246505.1:c.537G>A | XP_005246562.1:p.Glu179= | |
| XM_005246505.2:c.537G>A | XP_005246562.1:p.Glu179= | |
| XM_017003938.2:c.537G>A | XP_016859427.1:p.Glu179= | |
| NM_014585.6:c.657G>A MANE Select | NP_055400.1:p.Glu219= |