Linked Data
ClinVar Variation Id:
1062409
ClinVar RCV Id:
RCV001372121
dbSNP Id:
rs1562507788
gnomAD v2:
6-100057156-A-G
gnomAD v3:
6-99609280-A-G
gnomAD v4:
6-99609280-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99609280A>G , CM000668.2:g.99609280A>G | GRCh38 |
| NC_000006.11:g.100057156A>G , CM000668.1:g.100057156A>G | GRCh37 |
| NC_000006.10:g.100163877A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.370A>G MANE Select | ENSP00000358217.5:p.Thr124Ala | |
| ENST00000369214.2:c.*32A>G | ENSP00000358216.2:n.*32A>G | |
| ENST00000369215.4:c.370A>G | ENSP00000358217.4:p.Thr124Ala | |
| NM_021620.3:c.370A>G | NP_067633.2:p.Thr124Ala | |
| NM_021620.4:c.370A>G MANE Select | NP_067633.2:p.Thr124Ala |