Linked Data
ClinVar Variation Id:
142046
ClinVar RCV Id:
RCV000130850
RCV000475427
RCV000515162
RCV000588298
RCV001354773
RCV001731389
RCV003149903
dbSNP Id:
rs368111672
ExAC:
11:108143537 A / G
gnomAD v2:
11-108143537-A-G
gnomAD v3:
11-108272810-A-G
gnomAD v4:
11-108272810-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108272810A>G , CM000673.2:g.108272810A>G | GRCh38 |
| NC_000011.9:g.108143537A>G , CM000673.1:g.108143537A>G | GRCh37 |
| NC_000011.8:g.107648747A>G | NCBI36 |
| NG_009830.1:g.54979A>G , LRG_135:g.54979A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.3242A>G | ENSP00000388058.2:p.Asn1081Ser | |
| ENST00000713593.1:c.*2713A>G | ENSP00000518889.1:n.*2713A>G | |
| ENST00000278616.9:c.3242A>G | ENSP00000278616.4:p.Asn1081Ser | |
| ENST00000683174.1:n.3392A>G | ||
| ENST00000527805.6:c.3242A>G | ENSP00000435747.2:p.Asn1081Ser | |
| ENST00000675595.1:c.3077A>G | ENSP00000502563.1:p.Asn1026Ser | |
| ENST00000675843.1:c.3242A>G MANE Select | ENSP00000501606.1:p.Asn1081Ser | |
| ENST00000278616.8:c.3242A>G | ENSP00000278616.4:p.Asn1081Ser | |
| ENST00000452508.6:c.3242A>G | ENSP00000388058.2:p.Asn1081Ser | |
| ENST00000527805.5:c.3242A>G | ENSP00000435747.1:p.Asn1081Ser | |
| NM_000051.3:c.3242A>G , LRG_135t1:c.3242A>G | NP_000042.3:p.Asn1081Ser | |
| XM_005271561.3:c.3242A>G | XP_005271618.2:p.Asn1081Ser | |
| XM_005271562.3:c.3242A>G | XP_005271619.2:p.Asn1081Ser | |
| XM_006718843.2:c.3242A>G | XP_006718906.1:p.Asn1081Ser | |
| XM_011542840.1:c.3242A>G | XP_011541142.1:p.Asn1081Ser | |
| XM_011542841.1:c.3242A>G | XP_011541143.1:p.Asn1081Ser | |
| XM_011542842.1:c.3077A>G | XP_011541144.1:p.Asn1026Ser | |
| XM_011542843.1:c.3242A>G | XP_011541145.1:p.Asn1081Ser | |
| XM_011542844.1:c.2198A>G | XP_011541146.1:p.Asn733Ser | |
| XM_011542845.1:c.1934A>G | XP_011541147.1:p.Asn645Ser | |
| XM_011542846.1:c.3242A>G | XP_011541148.1:p.Asn1081Ser | |
| NM_001351834.1:c.3242A>G | NP_001338763.1:p.Asn1081Ser | |
| XM_005271562.5:c.3242A>G | XP_005271619.2:p.Asn1081Ser | |
| XM_006718843.4:c.3242A>G | XP_006718906.1:p.Asn1081Ser | |
| XM_011542840.3:c.3242A>G | XP_011541142.1:p.Asn1081Ser | |
| XM_011542842.3:c.3077A>G | XP_011541144.1:p.Asn1026Ser | |
| XM_011542843.2:c.3242A>G | XP_011541145.1:p.Asn1081Ser | |
| XM_011542844.3:c.2198A>G | XP_011541146.1:p.Asn733Ser | |
| XM_011542845.2:c.1934A>G | XP_011541147.1:p.Asn645Ser | |
| XM_017017789.2:c.3242A>G | XP_016873278.1:p.Asn1081Ser | |
| XM_017017790.2:c.3242A>G | XP_016873279.1:p.Asn1081Ser | |
| XM_017017791.1:c.3242A>G | XP_016873280.1:p.Asn1081Ser | |
| XM_017017792.2:c.3242A>G | XP_016873281.1:p.Asn1081Ser | |
| XR_002957150.1:n.3975A>G | ||
| NM_001351834.2:c.3242A>G | NP_001338763.1:p.Asn1081Ser | |
| NM_000051.4:c.3242A>G MANE Select | NP_000042.3:p.Asn1081Ser |