Linked Data
ClinVar Variation Id:
2594530
ClinVar RCV Id:
RCV004335597
dbSNP Id:
rs146017987
ExAC:
8:56699557 A / G
gnomAD v2:
8-56699557-A-G
gnomAD v3:
8-55786998-A-G
gnomAD v4:
8-55786998-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.55786998A>G , CM000670.2:g.55786998A>G | GRCh38 |
| NC_000008.10:g.56699557A>G , CM000670.1:g.56699557A>G | GRCh37 |
| NC_000008.9:g.56862111A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260129.6:c.1100A>G MANE Select | ENSP00000260129.5:p.Asn367Ser | |
| ENST00000260129.5:c.1100A>G | ENSP00000260129.5:p.Asn367Ser | |
| ENST00000523948.5:c.*873A>G | ENSP00000430467.1:n.*873A>G | |
| NM_024831.6:c.1100A>G | NP_079107.6:p.Asn367Ser | |
| XM_005251328.1:c.821A>G | XP_005251385.1:p.Asn274Ser | |
| XM_006716485.1:c.1100A>G | XP_006716548.1:p.Asn367Ser | |
| XM_006716486.2:c.821A>G | XP_006716549.1:p.Asn274Ser | |
| NM_001317902.1:c.821A>G | NP_001304831.1:p.Asn274Ser | |
| NM_001363184.1:c.821A>G | NP_001350113.1:p.Asn274Ser | |
| NM_024831.7:c.1100A>G | NP_079107.6:p.Asn367Ser | |
| XM_006716485.2:c.1100A>G | XP_006716548.1:p.Asn367Ser | |
| XM_017014004.1:c.1100A>G | XP_016869493.1:p.Asn367Ser | |
| NM_001317902.2:c.821A>G | NP_001304831.1:p.Asn274Ser | |
| NM_001363184.2:c.821A>G | NP_001350113.1:p.Asn274Ser | |
| NM_024831.8:c.1100A>G MANE Select | NP_079107.6:p.Asn367Ser |