Linked Data
ClinVar Variation Id:
2507869
ClinVar RCV Id:
RCV004281633
dbSNP Id:
rs776307442
ExAC:
2:158178132 T / A
gnomAD v2:
2-158178132-T-A
gnomAD v3:
2-157321620-T-A
gnomAD v4:
2-157321620-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.157321620T>A , CM000664.2:g.157321620T>A | GRCh38 |
| NC_000002.11:g.158178132T>A , CM000664.1:g.158178132T>A | GRCh37 |
| NC_000002.10:g.157886378T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410096.6:c.506A>T MANE Select | ENSP00000387047.1:p.Asp169Val | |
| ENST00000397283.6:c.545A>T | ENSP00000380453.2:p.Asp182Val | |
| ENST00000409395.3:c.*357A>T | ENSP00000387339.3:n.*357A>T | |
| ENST00000410096.5:c.506A>T | ENSP00000387047.1:p.Asp169Val | |
| ENST00000420719.6:c.446A>T | ENSP00000410646.2:p.Asp149Val | |
| NM_001009959.2:c.545A>T | NP_001009959.1:p.Asp182Val | |
| NM_001304344.1:c.506A>T | NP_001291273.1:p.Asp169Val | |
| NM_001304345.1:c.506A>T | NP_001291274.1:p.Asp169Val | |
| NM_001304346.1:c.446A>T | NP_001291275.1:p.Asp149Val | |
| NM_020711.2:c.506A>T | NP_065762.1:p.Asp169Val | |
| NM_001009959.3:c.545A>T | NP_001009959.1:p.Asp182Val | |
| NM_001304346.2:c.446A>T | NP_001291275.1:p.Asp149Val | |
| NM_020711.3:c.506A>T MANE Select | NP_065762.1:p.Asp169Val | |
| NM_001304344.2:c.506A>T | NP_001291273.1:p.Asp169Val | |
| NM_001304345.2:c.506A>T | NP_001291274.1:p.Asp169Val |