Linked Data
ClinVar Variation Id:
1465898
ClinVar RCV Id:
RCV001990393
dbSNP Id:
rs2132926010
gnomAD v4:
9-134835142-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835142A>G , CM000671.2:g.134835142A>G | GRCh38 |
| NC_000009.11:g.137726988A>G , CM000671.1:g.137726988A>G | GRCh37 |
| NC_000009.10:g.136866809A>G | NCBI36 |
| NG_008030.1:g.198337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5308A>G | ENSP00000360885.4:p.Asn1770Asp | |
| ENST00000371817.8:c.5308A>G MANE Select | ENSP00000360882.3:p.Asn1770Asp | |
| ENST00000371817.7:c.5308A>G | ENSP00000360882.3:p.Asn1770Asp | |
| ENST00000371820.3:c.566A>G | ||
| ENST00000618395.4:c.5308A>G | ENSP00000481360.1:p.Asn1770Asp | |
| NM_000093.4:c.5308A>G | NP_000084.3:p.Asn1770Asp | |
| NM_001278074.1:c.5308A>G | NP_001265003.1:p.Asn1770Asp | |
| NR_103451.2:n.71-14933T>C | ||
| NM_000093.5:c.5308A>G MANE Select | NP_000084.3:p.Asn1770Asp |