Linked Data
ClinVar Variation Id:
1940581
ClinVar RCV Id:
RCV002639403
gnomAD v4:
1-244864044-T-C
MyVariant Identifiers:
chr1:g.245027346T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864044T>C , CM000663.2:g.244864044T>C | GRCh38 |
| NC_000001.10:g.245027346T>C , CM000663.1:g.245027346T>C | GRCh37 |
| NC_000001.9:g.243093969T>C | NCBI36 |
| NG_042184.1:g.5482A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.264A>G | ENSP00000283179.10:p.Glu88= | |
| ENST00000444376.7:c.264A>G | ENSP00000393151.2:p.Glu88= | |
| ENST00000476241.2:n.449A>G | ||
| ENST00000638475.1:c.48A>G | ENSP00000491305.1:p.Glu16= | |
| ENST00000638952.1:n.495A>G | ||
| ENST00000640218.2:c.264A>G MANE Select | ENSP00000491215.1:p.Glu88= | |
| ENST00000640306.1:c.264A>G | ENSP00000491685.1:p.Glu88= | |
| ENST00000649899.1:n.488A>G | ||
| ENST00000283179.13:c.264A>G | ENSP00000283179.9:p.Glu88= | |
| ENST00000444376.6:c.264A>G | ENSP00000393151.2:p.Glu88= | |
| ENST00000476241.1:n.448A>G | ||
| NM_004501.3:c.264A>G | NP_004492.2:p.Glu88= | |
| NM_031844.2:c.264A>G | NP_114032.2:p.Glu88= | |
| NM_031844.3:c.264A>G MANE Select | NP_114032.2:p.Glu88= |