Linked Data
ClinVar Variation Id:
1607640
ClinVar RCV Id:
RCV002144730
dbSNP Id:
rs1336779925
gnomAD v4:
3-128486268-G-C
MyVariant Identifiers:
chr3:g.128205111G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128486268G>C , CM000665.2:g.128486268G>C | GRCh38 |
| NC_000003.11:g.128205111G>C , CM000665.1:g.128205111G>C | GRCh37 |
| NC_000003.10:g.129687801G>C | NCBI36 |
| NG_029334.1:g.11920C>G , LRG_295:g.11920C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.330C>G MANE Plus Clinical | ENSP00000417074.1:p.Ala110= | |
| ENST00000696466.1:c.612C>G | ENSP00000512647.1:p.Ala204= | |
| ENST00000341105.7:c.330C>G MANE Select | ENSP00000345681.2:p.Ala110= | |
| ENST00000341105.6:c.330C>G | ENSP00000345681.2:p.Ala110= | |
| ENST00000430265.6:c.330C>G | ENSP00000400259.2:p.Ala110= | |
| ENST00000487848.5:c.330C>G | ENSP00000417074.1:p.Ala110= | |
| ENST00000492608.1:c.330C>G | ENSP00000418132.1:p.Ala110= | |
| NM_001145661.1:c.330C>G , LRG_295t1:c.330C>G | NP_001139133.1:p.Ala110= | |
| NM_001145662.1:c.330C>G | NP_001139134.1:p.Ala110= | |
| NM_032638.4:c.330C>G , LRG_295t2:c.330C>G | NP_116027.2:p.Ala110= | |
| NM_001145661.2:c.330C>G MANE Plus Clinical | NP_001139133.1:p.Ala110= | |
| NM_032638.5:c.330C>G MANE Select | NP_116027.2:p.Ala110= |