Linked Data
ClinVar Variation Id:
1946116
ClinVar RCV Id:
RCV002667571
dbSNP Id:
rs1186653425
gnomAD v3:
3-81705508-A-G
gnomAD v4:
3-81705508-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705508A>G , CM000665.2:g.81705508A>G | GRCh38 |
| NC_000003.11:g.81754659A>G , CM000665.1:g.81754659A>G | GRCh37 |
| NC_000003.10:g.81837349A>G | NCBI36 |
| NG_011810.1:g.61293T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.249T>C MANE Select | ENSP00000410833.2:p.Asp83= | |
| ENST00000429644.6:c.249T>C | ENSP00000410833.2:p.Asp83= | |
| ENST00000489715.1:c.126T>C | ENSP00000419638.1:p.Asp42= | |
| NM_000158.3:c.249T>C | NP_000149.3:p.Asp83= | |
| NM_000158.4:c.249T>C MANE Select | NP_000149.4:p.Asp83= |