Linked Data
ClinVar Variation Id:
755420
ClinVar RCV Id:
RCV000932844
dbSNP Id:
rs1576206635
gnomAD v4:
3-81705546-T-G
MyVariant Identifiers:
chr3:g.81754697T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705546T>G , CM000665.2:g.81705546T>G | GRCh38 |
| NC_000003.11:g.81754697T>G , CM000665.1:g.81754697T>G | GRCh37 |
| NC_000003.10:g.81837387T>G | NCBI36 |
| NG_011810.1:g.61255A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.211A>C MANE Select | ENSP00000410833.2:p.Arg71= | |
| ENST00000429644.6:c.211A>C | ENSP00000410833.2:p.Arg71= | |
| ENST00000489715.1:c.88A>C | ENSP00000419638.1:p.Arg30= | |
| NM_000158.3:c.211A>C | NP_000149.3:p.Arg71= | |
| NM_000158.4:c.211A>C MANE Select | NP_000149.4:p.Arg71= |