Linked Data
ClinVar Variation Id:
213065
dbSNP Id:
rs780400029
ExAC:
9:137727015 A / G
gnomAD v2:
9-137727015-A-G
gnomAD v3:
9-134835169-A-G
gnomAD v4:
9-134835169-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835169A>G , CM000671.2:g.134835169A>G | GRCh38 |
| NC_000009.11:g.137727015A>G , CM000671.1:g.137727015A>G | GRCh37 |
| NC_000009.10:g.136866836A>G | NCBI36 |
| NG_008030.1:g.198364A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5335A>G | ENSP00000360885.4:p.Asn1779Asp | |
| ENST00000371817.8:c.5335A>G MANE Select | ENSP00000360882.3:p.Asn1779Asp | |
| ENST00000371817.7:c.5335A>G | ENSP00000360882.3:p.Asn1779Asp | |
| ENST00000371820.3:c.593A>G | ||
| ENST00000618395.4:c.5335A>G | ENSP00000481360.1:p.Asn1779Asp | |
| NM_000093.4:c.5335A>G | NP_000084.3:p.Asn1779Asp | |
| NM_001278074.1:c.5335A>G | NP_001265003.1:p.Asn1779Asp | |
| NR_103451.2:n.71-14960T>C | ||
| NM_000093.5:c.5335A>G MANE Select | NP_000084.3:p.Asn1779Asp |