Linked Data
ClinVar Variation Id:
1478280
ClinVar RCV Id:
RCV001998569
dbSNP Id:
rs780518944
ExAC:
8:55540617 A / G
gnomAD v2:
8-55540617-A-G
gnomAD v4:
8-54628057-A-G
COSMIC:
COSM3900704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628057A>G , CM000670.2:g.54628057A>G | GRCh38 |
| NC_000008.10:g.55540617A>G , CM000670.1:g.55540617A>G | GRCh37 |
| NC_000008.9:g.55703170A>G | NCBI36 |
| NG_009840.1:g.16991A>G | |
| NG_009840.2:g.16991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.4175A>G MANE Select | ENSP00000220676.1:p.Asn1392Ser | |
| ENST00000636932.1:c.787+5769A>G | ENSP00000489857.1:n.787+5769A>G | |
| ENST00000637698.1:c.787+5769A>G | ENSP00000490104.1:n.787+5769A>G | |
| ENST00000220676.1:c.4175A>G | ENSP00000220676.1:p.Asn1392Ser | |
| NM_006269.1:c.4175A>G | NP_006260.1:p.Asn1392Ser | |
| XM_017013721.1:c.4196A>G | XP_016869210.1:p.Asn1399Ser | |
| XM_017013722.1:c.4175A>G | XP_016869211.1:p.Asn1392Ser | |
| NM_001375654.1:c.787+5769A>G | NP_001362583.1:n.787+5769A>G | |
| NM_006269.2:c.4175A>G MANE Select | NP_006260.1:p.Asn1392Ser |