Linked Data
ClinVar Variation Id:
2282465
ClinVar RCV Id:
RCV002840150
dbSNP Id:
rs2045270561
gnomAD v3:
18-13885482-T-C
gnomAD v4:
18-13885482-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13885482T>C , CM000680.2:g.13885482T>C | GRCh38 |
| NC_000018.9:g.13885481T>C , CM000680.1:g.13885481T>C | GRCh37 |
| NC_000018.8:g.13875481T>C | NCBI36 |
| NG_011819.1:g.35055A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.37A>G MANE Select | ENSP00000333821.2:p.Asn13Asp | |
| ENST00000327606.3:c.37A>G | ENSP00000333821.2:p.Asn13Asp | |
| ENST00000399821.2:c.37A>G | ENSP00000382718.2:p.Asn13Asp | |
| NM_000529.2:c.37A>G MANE Select | NP_000520.1:p.Asn13Asp | |
| NM_001291911.1:c.37A>G | NP_001278840.1:p.Asn13Asp | |
| XM_017025781.1:c.37A>G | XP_016881270.1:p.Asn13Asp |