Linked Data
ClinVar Variation Id:
1048942
dbSNP Id:
rs781367427
ExAC:
19:39071104 A / C
gnomAD v2:
19-39071104-A-C
gnomAD v3:
19-38580464-A-C
gnomAD v4:
19-38580464-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580464A>C , CM000681.2:g.38580464A>C | GRCh38 |
| NC_000019.9:g.39071104A>C , CM000681.1:g.39071104A>C | GRCh37 |
| NC_000019.8:g.43762944A>C | NCBI36 |
| NG_008866.1:g.151765A>C , LRG_766:g.151765A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1542A>C | ||
| ENST00000688602.1:c.2939A>C | ||
| ENST00000689936.1:c.2911A>C | ||
| ENST00000359596.8:c.14606A>C MANE Select | ENSP00000352608.2:p.Asp4869Ala | |
| ENST00000355481.8:c.14591A>C | ENSP00000347667.3:p.Asp4864Ala | |
| ENST00000359596.7:c.14606A>C | ENSP00000352608.2:p.Asp4869Ala | |
| ENST00000360985.7:c.14588A>C | ENSP00000354254.4:p.Asp4863Ala | |
| NM_000540.2:c.14606A>C , LRG_766t1:c.14606A>C | NP_000531.2:p.Asp4869Ala | |
| NM_001042723.1:c.14591A>C | NP_001036188.1:p.Asp4864Ala | |
| XM_006723317.1:c.14588A>C | XP_006723380.1:p.Asp4863Ala | |
| XM_006723319.1:c.14573A>C | XP_006723382.1:p.Asp4858Ala | |
| XM_011527204.1:c.14603A>C | XP_011525506.1:p.Asp4868Ala | |
| XM_011527205.1:c.14519A>C | XP_011525507.1:p.Asp4840Ala | |
| XM_006723317.2:c.14588A>C | XP_006723380.1:p.Asp4863Ala | |
| XM_006723319.2:c.14573A>C | XP_006723382.1:p.Asp4858Ala | |
| XM_011527205.2:c.14519A>C | XP_011525507.1:p.Asp4840Ala | |
| NM_000540.3:c.14606A>C MANE Select | NP_000531.2:p.Asp4869Ala | |
| NM_001042723.2:c.14591A>C | NP_001036188.1:p.Asp4864Ala |