Linked Data
ClinVar Variation Id:
1377540
ClinVar RCV Id:
RCV001912263
dbSNP Id:
rs1381540653
gnomAD v2:
6-143792112-A-G
gnomAD v4:
6-143470975-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143470975A>G , CM000668.2:g.143470975A>G | GRCh38 |
| NC_000006.11:g.143792112A>G , CM000668.1:g.143792112A>G | GRCh37 |
| NC_000006.10:g.143833805A>G | NCBI36 |
| NG_008459.1:g.25195A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.346A>G MANE Select | ENSP00000356563.4:p.Thr116Ala | |
| ENST00000367591.4:c.346A>G | ENSP00000356563.4:p.Thr116Ala | |
| ENST00000367592.5:c.214A>G | ENSP00000356564.1:p.Thr72Ala | |
| NM_003630.2:c.346A>G | NP_003621.1:p.Thr116Ala | |
| NM_003630.3:c.346A>G MANE Select | NP_003621.1:p.Thr116Ala |