Linked Data
ClinVar Variation Id:
1433886
ClinVar RCV Id:
RCV001984478
dbSNP Id:
rs202140546
ExAC:
10:96322608 A / G
gnomAD v2:
10-96322608-A-G
gnomAD v3:
10-94562851-A-G
gnomAD v4:
10-94562851-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94562851A>G , CM000672.2:g.94562851A>G | GRCh38 |
| NC_000010.10:g.96322608A>G , CM000672.1:g.96322608A>G | GRCh37 |
| NC_000010.9:g.96312598A>G | NCBI36 |
| NG_047057.1:g.22085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371332.9:c.370+124A>G | ENSP00000360383.6:n.370+124A>G | |
| ENST00000394036.6:c.410A>G | ENSP00000377601.2:p.Asn137Ser | |
| ENST00000394045.6:c.410A>G | ENSP00000377609.1:p.Asn137Ser | |
| ENST00000419900.6:c.362A>G | ENSP00000409945.2:p.Asn121Ser | |
| ENST00000475263.2:n.410A>G | ||
| ENST00000630929.3:c.454A>G | ENSP00000485823.1:n.454A>G | |
| ENST00000698650.1:n.339+124A>G | ||
| ENST00000698651.1:n.544A>G | ||
| ENST00000698673.1:c.*310A>G | ENSP00000513870.1:n.*310A>G | |
| ENST00000698675.1:c.410A>G | ENSP00000513940.1:p.Asn137Ser | |
| ENST00000698799.1:c.410A>G | ENSP00000513942.1:p.Asn137Ser | |
| ENST00000698800.1:c.410A>G | ENSP00000513943.1:p.Asn137Ser | |
| ENST00000698830.1:c.410A>G | ENSP00000513967.1:p.Asn137Ser | |
| ENST00000348459.10:c.410A>G MANE Select | ENSP00000239027.7:p.Asn137Ser | |
| ENST00000239026.10:c.38A>G | ENSP00000239026.7:p.Asn13Ser | |
| ENST00000348459.9:c.410A>G | ENSP00000239027.7:p.Asn137Ser | |
| ENST00000371332.8:c.21+124A>G | ENSP00000360383.5:n.21+124A>G | |
| ENST00000394036.5:c.410A>G | ENSP00000377601.2:p.Asn137Ser | |
| ENST00000394045.5:c.410A>G | ENSP00000377609.1:p.Asn137Ser | |
| ENST00000419900.5:c.362A>G | ENSP00000409945.1:p.Asn121Ser | |
| ENST00000462057.2:n.259A>G | ||
| NM_001289067.1:c.410A>G | NP_001275996.1:p.Asn137Ser | |
| NM_001289068.1:c.362A>G | NP_001275997.1:p.Asn121Ser | |
| NM_001289069.1:c.410A>G | NP_001275998.1:p.Asn137Ser | |
| NM_001289070.1:c.410A>G | NP_001275999.1:p.Asn137Ser | |
| NM_001289071.1:c.38A>G | NP_001276000.1:p.Asn13Ser | |
| NM_001289072.1:c.410A>G | NP_001276001.1:p.Asn137Ser | |
| NM_001289073.1:c.21+124A>G | NP_001276002.1:n.21+124A>G | |
| NM_001289074.1:c.-593A>G | NP_001276003.1:n.-593A>G | |
| NM_001289075.1:c.-612A>G | NP_001276004.1:n.-612A>G | |
| NM_018063.4:c.410A>G | NP_060533.2:p.Asn137Ser | |
| XM_024447968.1:c.410A>G | XP_024303736.1:p.Asn137Ser | |
| NM_018063.5:c.410A>G MANE Select | NP_060533.2:p.Asn137Ser | |
| NM_001289068.2:c.362A>G | NP_001275997.1:p.Asn121Ser | |
| NM_001289069.2:c.410A>G | NP_001275998.1:p.Asn137Ser | |
| NM_001289071.2:c.38A>G | NP_001276000.1:p.Asn13Ser | |
| NM_001289072.2:c.410A>G | NP_001276001.1:p.Asn137Ser | |
| NM_001289073.2:c.21+124A>G | NP_001276002.1:n.21+124A>G | |
| NM_001289074.2:c.-593A>G | NP_001276003.1:n.-593A>G | |
| NM_001289075.2:c.-612A>G | NP_001276004.1:n.-612A>G | |
| NM_001289067.2:c.410A>G | NP_001275996.1:p.Asn137Ser | |
| NM_001289070.2:c.410A>G | NP_001275999.1:p.Asn137Ser |