Linked Data
ClinVar Variation Id:
130890
dbSNP Id:
rs186044004
ExAC:
1:53678936 G / A
gnomAD v2:
1-53678936-G-A
gnomAD v3:
1-53213264-G-A
gnomAD v4:
1-53213264-G-A
PubMed:
PMID:20301431
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53213264G>A , CM000663.2:g.53213264G>A | GRCh38 |
| NC_000001.10:g.53678936G>A , CM000663.1:g.53678936G>A | GRCh37 |
| NC_000001.9:g.53451524G>A | NCBI36 |
| NG_008035.1:g.21836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1646G>A MANE Select | ENSP00000360541.3:p.Gly549Asp | |
| ENST00000635862.1:c.1613G>A | ENSP00000490867.1:p.Ser538Asn | |
| ENST00000635888.1:c.*1632G>A | ENSP00000490042.1:n.*1632G>A | |
| ENST00000636239.1:c.*1293G>A | ENSP00000490066.1:n.*1293G>A | |
| ENST00000636867.1:c.1577G>A | ENSP00000489631.1:p.Gly526Asp | |
| ENST00000636891.1:c.1696G>A | ENSP00000490399.1:p.Ala566Thr | |
| ENST00000636935.1:c.341G>A | ENSP00000489757.1:p.Gly114Asp | |
| ENST00000637252.1:c.1682G>A | ENSP00000490492.1:p.Ser561Asn | |
| ENST00000638135.1:c.*1293G>A | ENSP00000489756.1:n.*1293G>A | |
| ENST00000371486.3:c.1646G>A | ENSP00000360541.3:p.Gly549Asp | |
| NM_000098.2:c.1646G>A | NP_000089.1:p.Gly549Asp | |
| XM_005270484.1:c.1577G>A | XP_005270541.1:p.Gly526Asp | |
| NM_001330589.1:c.1577G>A | NP_001317518.1:p.Gly526Asp | |
| NM_000098.3:c.1646G>A MANE Select | NP_000089.1:p.Gly549Asp | |
| NM_001330589.2:c.1577G>A | NP_001317518.1:p.Gly526Asp |