Linked Data
ClinVar Variation Id:
1101888
ClinVar RCV Id:
RCV001424988
dbSNP Id:
rs1709035668
gnomAD v4:
3-93927385-T-C
MyVariant Identifiers:
chr3:g.93646229T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93927385T>C , CM000665.2:g.93927385T>C | GRCh38 |
| NC_000003.11:g.93646229T>C , CM000665.1:g.93646229T>C | GRCh37 |
| NC_000003.10:g.95128919T>C | NCBI36 |
| NG_009813.1:g.51706A>G , LRG_572:g.51706A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.99A>G | ENSP00000330021.7:p.Ser33= | |
| ENST00000394236.9:c.99A>G MANE Select | ENSP00000377783.3:p.Ser33= | |
| ENST00000407433.6:c.99A>G | ENSP00000385794.2:p.Ser33= | |
| ENST00000472684.2:c.-295A>G | ENSP00000419616.2:n.-295A>G | |
| ENST00000647936.1:c.99A>G | ENSP00000496822.1:p.Ser33= | |
| ENST00000648381.1:n.267A>G | ||
| ENST00000648853.1:c.57A>G | ENSP00000497262.1:p.Ser19= | |
| ENST00000649103.1:c.78A>G | ENSP00000497962.1:p.Ser26= | |
| ENST00000650591.1:c.195A>G | ENSP00000497376.1:p.Ser65= | |
| ENST00000348974.4:c.195A>G | ENSP00000330021.6:p.Ser65= | |
| ENST00000394236.7:c.99A>G | ENSP00000377783.3:p.Ser33= | |
| ENST00000407433.5:c.-295A>G | ENSP00000385794.1:n.-295A>G | |
| ENST00000472684.1:c.-295A>G | ENSP00000419616.1:n.-295A>G | |
| NM_000313.3:c.99A>G , LRG_572t1:c.99A>G | NP_000304.2:p.Ser33= | |
| NM_001314077.1:c.195A>G , LRG_572t2:c.195A>G | NP_001301006.1:p.Ser65= | |
| NM_000313.4:c.99A>G MANE Select | NP_000304.2:p.Ser33= | |
| NM_001314077.2:c.195A>G | NP_001301006.1:p.Ser65= |