Linked Data
ClinVar Variation Id:
1109594
ClinVar RCV Id:
RCV001435540
dbSNP Id:
rs1576206589
gnomAD v4:
3-81705487-T-C
MyVariant Identifiers:
chr3:g.81754638T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705487T>C , CM000665.2:g.81705487T>C | GRCh38 |
| NC_000003.11:g.81754638T>C , CM000665.1:g.81754638T>C | GRCh37 |
| NC_000003.10:g.81837328T>C | NCBI36 |
| NG_011810.1:g.61314A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.270A>G MANE Select | ENSP00000410833.2:p.Glu90= | |
| ENST00000429644.6:c.270A>G | ENSP00000410833.2:p.Glu90= | |
| ENST00000489715.1:c.147A>G | ENSP00000419638.1:p.Glu49= | |
| NM_000158.3:c.270A>G | NP_000149.3:p.Glu90= | |
| NM_000158.4:c.270A>G MANE Select | NP_000149.4:p.Glu90= |