Linked Data
ClinVar Variation Id:
1597598
ClinVar RCV Id:
RCV002129354
dbSNP Id:
rs753073813
ExAC:
2:32476369 G / A
gnomAD v2:
2-32476369-G-A
gnomAD v4:
2-32251300-G-A
COSMIC:
COSM4707181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32251300G>A , CM000664.2:g.32251300G>A | GRCh38 |
| NC_000002.11:g.32476369G>A , CM000664.1:g.32476369G>A | GRCh37 |
| NC_000002.10:g.32329873G>A | NCBI36 |
| NG_041780.1:g.19444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.-76+5475C>T | ENSP00000498301.2:n.-76+5475C>T | |
| ENST00000402280.6:c.564C>T MANE Select | ENSP00000385428.1:p.Ser188= | |
| ENST00000404025.3:c.564C>T | ENSP00000385090.3:p.Ser188= | |
| ENST00000652197.1:c.564C>T | ENSP00000498301.1:p.Ser188= | |
| ENST00000342905.10:c.262+1119C>T | ENSP00000339666.6:n.262+1119C>T | |
| ENST00000360906.9:c.564C>T | ENSP00000354159.5:p.Ser188= | |
| ENST00000402280.5:c.564C>T | ENSP00000385428.1:p.Ser188= | |
| ENST00000404025.2:c.564C>T | ENSP00000385090.2:p.Ser188= | |
| NM_001199138.1:c.564C>T | NP_001186067.1:p.Ser188= | |
| NM_001199139.1:c.564C>T | NP_001186068.1:p.Ser188= | |
| NM_001302504.1:c.262+1119C>T | NP_001289433.1:n.262+1119C>T | |
| NM_021209.4:c.564C>T | NP_067032.3:p.Ser188= | |
| XM_011533008.1:c.564C>T | XP_011531310.1:p.Ser188= | |
| XM_017004619.1:c.564C>T | XP_016860108.1:p.Ser188= | |
| XR_001738872.1:n.825C>T | ||
| NM_001199138.2:c.564C>T MANE Select | NP_001186067.1:p.Ser188= |