Linked Data
ClinVar Variation Id:
1116870
ClinVar RCV Id:
RCV001445428
dbSNP Id:
rs374518318
gnomAD v4:
3-81670934-C-A
MyVariant Identifiers:
chr3:g.81720085C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670934C>A , CM000665.2:g.81670934C>A | GRCh38 |
| NC_000003.11:g.81720085C>A , CM000665.1:g.81720085C>A | GRCh37 |
| NC_000003.10:g.81802775C>A | NCBI36 |
| NG_011810.1:g.95867G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.333G>T MANE Select | ENSP00000410833.2:p.Ser111= | |
| ENST00000429644.6:c.333G>T | ENSP00000410833.2:p.Ser111= | |
| ENST00000477426.1:n.49G>T | ||
| ENST00000489715.1:c.210G>T | ENSP00000419638.1:p.Ser70= | |
| NM_000158.3:c.333G>T | NP_000149.3:p.Ser111= | |
| NM_000158.4:c.333G>T MANE Select | NP_000149.4:p.Ser111= |