Linked Data
ClinVar Variation Id:
2360774
ClinVar RCV Id:
RCV004205607
dbSNP Id:
rs201196367
ExAC:
4:71701950 C / T
gnomAD v2:
4-71701950-C-T
gnomAD v3:
4-70836233-C-T
gnomAD v4:
4-70836233-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70836233C>T , CM000666.2:g.70836233C>T | GRCh38 |
| NC_000004.11:g.71701950C>T , CM000666.1:g.71701950C>T | GRCh37 |
| NC_000004.10:g.71920814C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254799.11:c.439G>A MANE Select | ENSP00000254799.6:p.Asp147Asn | |
| ENST00000254799.10:c.439G>A | ENSP00000254799.6:p.Asp147Asn | |
| ENST00000499044.6:c.358G>A | ENSP00000427354.1:p.Asp120Asn | |
| ENST00000502323.5:c.-48G>A | ENSP00000425430.1:n.-48G>A | |
| ENST00000505068.5:n.509G>A | ||
| ENST00000508091.1:n.228G>A | ||
| ENST00000514161.5:c.249G>A | ||
| ENST00000545193.5:c.271G>A | ENSP00000443380.2:p.Asp91Asn | |
| NM_001098477.1:c.-48G>A | NP_001091947.1:n.-48G>A | |
| NM_002092.3:c.439G>A | NP_002083.3:p.Asp147Asn | |
| XM_005265681.2:c.682G>A | XP_005265738.1:p.Asp228Asn | |
| XM_011531897.1:c.-48G>A | XP_011530199.1:n.-48G>A | |
| XM_011531898.1:c.-48G>A | XP_011530200.1:n.-48G>A | |
| XM_005265681.4:c.682G>A | XP_005265738.1:p.Asp228Asn | |
| XM_011531897.3:c.-48G>A | XP_011530199.1:n.-48G>A | |
| NM_002092.4:c.439G>A MANE Select | NP_002083.4:p.Asp147Asn | |
| NM_001098477.2:c.-48G>A | NP_001091947.1:n.-48G>A |