Linked Data
ClinVar Variation Id:
2833408
ClinVar RCV Id:
RCV003741972
dbSNP Id:
rs1645423992
gnomAD v4:
1-53211108-G-A
MyVariant Identifiers:
chr1:g.53676780G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53211108G>A , CM000663.2:g.53211108G>A | GRCh38 |
| NC_000001.10:g.53676780G>A , CM000663.1:g.53676780G>A | GRCh37 |
| NC_000001.9:g.53449368G>A | NCBI36 |
| NG_008035.1:g.19680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1434G>A MANE Select | ENSP00000360541.3:p.Gln478= | |
| ENST00000635862.1:c.1434G>A | ENSP00000490867.1:p.Gln478= | |
| ENST00000635888.1:c.*1420G>A | ENSP00000490042.1:n.*1420G>A | |
| ENST00000636239.1:c.*1081G>A | ENSP00000490066.1:n.*1081G>A | |
| ENST00000636867.1:c.1434G>A | ENSP00000489631.1:p.Gln478= | |
| ENST00000636891.1:c.1434G>A | ENSP00000490399.1:p.Gln478= | |
| ENST00000636935.1:c.341-2156G>A | ENSP00000489757.1:n.341-2156G>A | |
| ENST00000637252.1:c.1434G>A | ENSP00000490492.1:p.Gln478= | |
| ENST00000637726.1:n.3634G>A | ||
| ENST00000638135.1:c.*1081G>A | ENSP00000489756.1:n.*1081G>A | |
| ENST00000371486.3:c.1434G>A | ENSP00000360541.3:p.Gln478= | |
| NM_000098.2:c.1434G>A | NP_000089.1:p.Gln478= | |
| XM_005270484.1:c.1434G>A | XP_005270541.1:p.Gln478= | |
| NM_001330589.1:c.1434G>A | NP_001317518.1:p.Gln478= | |
| NM_000098.3:c.1434G>A MANE Select | NP_000089.1:p.Gln478= | |
| NM_001330589.2:c.1434G>A | NP_001317518.1:p.Gln478= |