Linked Data
ClinVar Variation Id:
902418
dbSNP Id:
rs202066076
ExAC:
4:155665954 A / G
gnomAD v2:
4-155665954-A-G
gnomAD v3:
4-154744802-A-G
gnomAD v4:
4-154744802-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744802A>G , CM000666.2:g.154744802A>G | GRCh38 |
| NC_000004.11:g.155665954A>G , CM000666.1:g.155665954A>G | GRCh37 |
| NC_000004.10:g.155885404A>G | NCBI36 |
| NG_009110.1:g.5792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.476A>G MANE Select | ENSP00000337224.3:p.Asn159Ser | |
| ENST00000336356.3:c.476A>G | ENSP00000337224.3:p.Asn159Ser | |
| ENST00000499392.1:n.472-3387A>G | ||
| ENST00000507827.5:c.476A>G | ENSP00000426761.1:p.Asn159Ser | |
| ENST00000510733.1:n.803A>G | ||
| NM_001301645.1:c.476A>G | NP_001288574.1:p.Asn159Ser | |
| NM_004744.4:c.476A>G | NP_004735.2:p.Asn159Ser | |
| XM_006714412.2:c.476A>G | XP_006714475.1:p.Asn159Ser | |
| XR_938793.1:n.812A>G | ||
| XR_938793.2:n.808A>G | ||
| NM_004744.5:c.476A>G MANE Select | NP_004735.2:p.Asn159Ser | |
| NM_001301645.2:c.476A>G | NP_001288574.1:p.Asn159Ser |