Linked Data
ClinVar Variation Id:
642063
ClinVar RCV Id:
RCV000795449
dbSNP Id:
rs976075779
gnomAD v3:
1-42927786-T-C
gnomAD v4:
1-42927786-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927786T>C , CM000663.2:g.42927786T>C | GRCh38 |
| NC_000001.10:g.43393457T>C , CM000663.1:g.43393457T>C | GRCh37 |
| NC_000001.9:g.43166044T>C | NCBI36 |
| NG_008232.1:g.36391A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1097A>G MANE Select | ENSP00000416293.2:p.Tyr366Cys | |
| ENST00000674545.1:n.1714A>G | ||
| ENST00000674765.1:c.1030-929A>G | ENSP00000501811.1:n.1030-929A>G | |
| ENST00000675112.1:n.1398A>G | ||
| ENST00000676254.1:n.1546A>G | ||
| ENST00000426263.7:c.1097A>G | ENSP00000416293.2:p.Tyr366Cys | |
| ENST00000475162.3:c.416-808A>G | ||
| ENST00000630287.2:c.*412A>G | ENSP00000486694.1:n.*412A>G | |
| NM_006516.2:c.1097A>G | NP_006507.2:p.Tyr366Cys | |
| NM_006516.3:c.1097A>G | NP_006507.2:p.Tyr366Cys | |
| NM_006516.4:c.1097A>G MANE Select | NP_006507.2:p.Tyr366Cys |