Linked Data
ClinVar Variation Id:
375277
ClinVar RCV Id:
RCV000416348
dbSNP Id:
rs1057519323
gnomAD v4:
11-3676355-T-C
PubMed:
PMID:28274275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.3676355T>C , CM000673.2:g.3676355T>C | GRCh38 |
| NC_000011.9:g.3697585T>C , CM000673.1:g.3697585T>C | GRCh37 |
| NC_000011.8:g.3654161T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355260.8:c.4985A>G | ENSP00000347404.3:p.Asn1662Ser | |
| ENST00000469881.2:n.1649A>G | ||
| ENST00000527104.6:c.5183A>G | ENSP00000436226.2:p.Asn1728Ser | |
| ENST00000529063.2:c.*1428A>G | ENSP00000433226.2:n.*1428A>G | |
| ENST00000529379.2:c.5066A>G | ENSP00000432142.2:p.Asn1689Ser | |
| ENST00000700595.1:c.2993A>G | ENSP00000515086.1:p.Asn998Ser | |
| ENST00000700596.1:n.4242A>G | ||
| ENST00000700597.1:c.5180A>G | ENSP00000515087.1:p.Asn1727Ser | |
| ENST00000700598.1:c.5156A>G | ENSP00000515088.1:p.Asn1719Ser | |
| ENST00000700599.1:n.1575A>G | ||
| ENST00000700600.1:c.1305A>G | ||
| ENST00000700601.1:c.*117A>G | ENSP00000515090.1:n.*117A>G | |
| ENST00000700602.1:c.*117A>G | ENSP00000515091.1:n.*117A>G | |
| ENST00000700603.1:c.5066A>G | ENSP00000515092.1:p.Asn1689Ser | |
| ENST00000324932.12:c.5207A>G MANE Select | ENSP00000316032.7:p.Asn1736Ser | |
| ENST00000650171.1:c.*1276A>G | ENSP00000497709.1:n.*1276A>G | |
| ENST00000324932.11:c.5207A>G | ENSP00000316032.7:p.Asn1736Ser | |
| ENST00000355260.7:c.4985A>G | ENSP00000347404.3:p.Asn1662Ser | |
| ENST00000359171.8:c.5258A>G | ENSP00000352091.5:p.Asn1753Ser | |
| ENST00000429801.5:c.2064A>G | ||
| ENST00000469881.1:n.349A>G | ||
| ENST00000482690.1:n.224A>G | ||
| ENST00000533346.5:c.246+154A>G | ||
| NM_016320.4:c.5207A>G | NP_057404.2:p.Asn1736Ser | |
| NM_139132.3:c.4985A>G | NP_624358.2:p.Asn1662Ser | |
| XM_005252950.1:c.5258A>G | XP_005253007.1:p.Asn1753Ser | |
| XM_006718240.1:c.5183A>G | XP_006718303.1:p.Asn1728Ser | |
| XM_006718241.1:c.5066A>G | XP_006718304.1:p.Asn1689Ser | |
| XM_006718242.1:c.5036A>G | XP_006718305.1:p.Asn1679Ser | |
| XM_011520134.1:c.5258A>G | XP_011518436.1:p.Asn1753Ser | |
| XM_011520135.1:c.5258A>G | XP_011518437.1:p.Asn1753Ser | |
| XM_011520136.1:c.5231A>G | XP_011518438.1:p.Asn1744Ser | |
| XM_011520137.1:c.5117A>G | XP_011518439.1:p.Asn1706Ser | |
| XR_930872.1:n.5486A>G | ||
| NM_001365125.1:c.5300A>G | NP_001352054.1:p.Asn1767Ser | |
| NM_001365126.1:c.5258A>G | NP_001352055.1:p.Asn1753Ser | |
| NM_001365127.1:c.5183A>G | NP_001352056.1:p.Asn1728Ser | |
| NM_001365128.1:c.5156A>G | NP_001352057.1:p.Asn1719Ser | |
| NM_001365129.1:c.5066A>G | NP_001352058.1:p.Asn1689Ser | |
| NR_157589.1:n.5235A>G | ||
| NR_157590.1:n.5160A>G | ||
| NR_157591.1:n.5278A>G | ||
| NM_016320.5:c.5207A>G MANE Select | NP_057404.2:p.Asn1736Ser | |
| NM_001365125.2:c.5300A>G | NP_001352054.1:p.Asn1767Ser | |
| NM_001365127.2:c.5183A>G | NP_001352056.1:p.Asn1728Ser | |
| NM_001365128.2:c.5156A>G | NP_001352057.1:p.Asn1719Ser | |
| NM_001365129.2:c.5066A>G | NP_001352058.1:p.Asn1689Ser | |
| NM_139132.4:c.4985A>G | NP_624358.2:p.Asn1662Ser | |
| NR_157589.2:n.5235A>G | ||
| NR_157590.2:n.5160A>G | ||
| NM_001365126.2:c.5258A>G | NP_001352055.1:p.Asn1753Ser |