Linked Data
ClinVar Variation Id:
478939
dbSNP Id:
rs730881330
gnomAD v2:
11-108106463-A-G
gnomAD v4:
11-108235736-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108235736A>G , CM000673.2:g.108235736A>G | GRCh38 |
| NC_000011.9:g.108106463A>G , CM000673.1:g.108106463A>G | GRCh37 |
| NC_000011.8:g.107611673A>G | NCBI36 |
| NG_009830.1:g.17905A>G , LRG_135:g.17905A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.398A>G | ENSP00000388058.2:p.Asn133Ser | |
| ENST00000713593.1:c.398A>G | ENSP00000518889.1:p.Asn133Ser | |
| ENST00000278616.9:c.398A>G | ENSP00000278616.4:p.Asn133Ser | |
| ENST00000682147.1:n.528A>G | ||
| ENST00000682430.1:n.497A>G | ||
| ENST00000682516.1:n.532A>G | ||
| ENST00000682956.1:n.532A>G | ||
| ENST00000683174.1:n.548A>G | ||
| ENST00000684029.1:c.398A>G | ENSP00000508010.1:p.Asn133Ser | |
| ENST00000684037.1:c.398A>G | ENSP00000508245.1:p.Asn133Ser | |
| ENST00000684061.1:n.532A>G | ||
| ENST00000684179.1:n.465+6413A>G | ||
| ENST00000527805.6:c.398A>G | ENSP00000435747.2:p.Asn133Ser | |
| ENST00000675595.1:c.331+6413A>G | ENSP00000502563.1:n.331+6413A>G | |
| ENST00000675843.1:c.398A>G MANE Select | ENSP00000501606.1:p.Asn133Ser | |
| ENST00000278616.8:c.398A>G | ENSP00000278616.4:p.Asn133Ser | |
| ENST00000452508.6:c.398A>G | ENSP00000388058.2:p.Asn133Ser | |
| ENST00000527805.5:c.398A>G | ENSP00000435747.1:p.Asn133Ser | |
| ENST00000527891.5:c.331+6413A>G | ENSP00000433955.1:n.331+6413A>G | |
| ENST00000530958.5:c.398A>G | ENSP00000483338.1:p.Asn133Ser | |
| ENST00000601453.2:c.398A>G | ENSP00000469471.1:p.Asn133Ser | |
| NM_000051.3:c.398A>G , LRG_135t1:c.398A>G | NP_000042.3:p.Asn133Ser | |
| XM_005271561.3:c.398A>G | XP_005271618.2:p.Asn133Ser | |
| XM_005271562.3:c.398A>G | XP_005271619.2:p.Asn133Ser | |
| XM_006718843.2:c.398A>G | XP_006718906.1:p.Asn133Ser | |
| XM_011542840.1:c.398A>G | XP_011541142.1:p.Asn133Ser | |
| XM_011542841.1:c.398A>G | XP_011541143.1:p.Asn133Ser | |
| XM_011542842.1:c.331+6413A>G | XP_011541144.1:n.331+6413A>G | |
| XM_011542843.1:c.398A>G | XP_011541145.1:p.Asn133Ser | |
| XM_011542846.1:c.398A>G | XP_011541148.1:p.Asn133Ser | |
| NM_001351834.1:c.398A>G | NP_001338763.1:p.Asn133Ser | |
| XM_005271562.5:c.398A>G | XP_005271619.2:p.Asn133Ser | |
| XM_006718843.4:c.398A>G | XP_006718906.1:p.Asn133Ser | |
| XM_011542840.3:c.398A>G | XP_011541142.1:p.Asn133Ser | |
| XM_011542842.3:c.331+6413A>G | XP_011541144.1:n.331+6413A>G | |
| XM_011542843.2:c.398A>G | XP_011541145.1:p.Asn133Ser | |
| XM_011542844.3:c.-625A>G | XP_011541146.1:n.-625A>G | |
| XM_017017789.2:c.398A>G | XP_016873278.1:p.Asn133Ser | |
| XM_017017790.2:c.398A>G | XP_016873279.1:p.Asn133Ser | |
| XM_017017791.1:c.398A>G | XP_016873280.1:p.Asn133Ser | |
| XM_017017792.2:c.398A>G | XP_016873281.1:p.Asn133Ser | |
| XR_002957150.1:n.1131A>G | ||
| NM_001351834.2:c.398A>G | NP_001338763.1:p.Asn133Ser | |
| NM_000051.4:c.398A>G MANE Select | NP_000042.3:p.Asn133Ser |