Linked Data
ClinVar Variation Id:
2194343
ClinVar RCV Id:
RCV002612481
dbSNP Id:
rs763933990
gnomAD v4:
1-42929970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929970G>A , CM000663.2:g.42929970G>A | GRCh38 |
| NC_000001.10:g.43395641G>A , CM000663.1:g.43395641G>A | GRCh37 |
| NC_000001.9:g.43168228G>A | NCBI36 |
| NG_008232.1:g.34207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.582C>T MANE Select | ENSP00000416293.2:p.Phe194= | |
| ENST00000674765.1:c.582C>T | ENSP00000501811.1:p.Phe194= | |
| ENST00000675112.1:n.605C>T | ||
| ENST00000676254.1:n.1031C>T | ||
| ENST00000426263.7:c.582C>T | ENSP00000416293.2:p.Phe194= | |
| ENST00000439722.2:c.461C>T | ENSP00000395521.2:n.461C>T | |
| ENST00000475162.3:c.415+656C>T | ||
| ENST00000630287.2:c.517-190C>T | ENSP00000486694.1:n.517-190C>T | |
| NM_006516.2:c.582C>T | NP_006507.2:p.Phe194= | |
| NM_006516.3:c.582C>T | NP_006507.2:p.Phe194= | |
| NM_006516.4:c.582C>T MANE Select | NP_006507.2:p.Phe194= |