Linked Data
ClinVar Variation Id:
3161137
ClinVar RCV Id:
RCV004448005
dbSNP Id:
rs371677606
ExAC:
17:18049310 A / G
gnomAD v2:
17-18049310-A-G
gnomAD v3:
17-18145996-A-G
gnomAD v4:
17-18145996-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145996A>G , CM000679.2:g.18145996A>G | GRCh38 |
| NC_000017.10:g.18049310A>G , CM000679.1:g.18049310A>G | GRCh37 |
| NC_000017.9:g.17990035A>G | NCBI36 |
| NG_011634.1:g.42291A>G | |
| NG_011634.2:g.42291A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6398A>G MANE Select | ENSP00000495481.1:p.Asn2133Ser | |
| ENST00000205890.9:c.6398A>G | ENSP00000205890.5:p.Asn2133Ser | |
| ENST00000615845.4:c.6398A>G | ENSP00000481642.1:p.Asn2133Ser | |
| NM_016239.3:c.6398A>G | NP_057323.3:p.Asn2133Ser | |
| XM_011523917.1:c.6338A>G | XP_011522219.1:p.Asn2113Ser | |
| XM_011523918.1:c.6338A>G | XP_011522220.1:p.Asn2113Ser | |
| XM_011523921.1:c.6392A>G | XP_011522223.1:p.Asn2131Ser | |
| XR_934037.1:n.6997A>G | ||
| XR_934038.1:n.6997A>G | ||
| XM_011523918.2:c.6338A>G | XP_011522220.1:p.Asn2113Ser | |
| XM_017024714.2:c.6338A>G | XP_016880203.1:p.Asn2113Ser | |
| XM_017024715.2:c.6401A>G | XP_016880204.1:p.Asn2134Ser | |
| XM_024450781.1:c.6213+1404A>G | XP_024306549.1:n.6213+1404A>G | |
| NM_016239.4:c.6398A>G MANE Select | NP_057323.3:p.Asn2133Ser |