Linked Data
ClinVar Variation Id:
186379
dbSNP Id:
rs758044862
ExAC:
5:112179720 A / G
gnomAD v2:
5-112179720-A-G
gnomAD v3:
5-112844023-A-G
gnomAD v4:
5-112844023-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112844023A>G , CM000667.2:g.112844023A>G | GRCh38 |
| NC_000005.9:g.112179720A>G , CM000667.1:g.112179720A>G | GRCh37 |
| NC_000005.8:g.112207619A>G | NCBI36 |
| NG_008481.4:g.156503A>G , LRG_130:g.156503A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8483A>G | ENSP00000473355.2:p.Asn2828Ser | |
| ENST00000505350.2:c.*8435A>G | ENSP00000481752.1:n.*8435A>G | |
| ENST00000507379.6:c.8375A>G | ENSP00000423224.2:p.Asn2792Ser | |
| ENST00000509732.6:c.8429A>G | ENSP00000426541.2:p.Asn2810Ser | |
| ENST00000512211.7:c.8429A>G | ENSP00000423828.3:p.Asn2810Ser | |
| ENST00000257430.9:c.8429A>G MANE Select | ENSP00000257430.4:p.Asn2810Ser | |
| ENST00000257430.8:c.8429A>G | ENSP00000257430.4:p.Asn2810Ser | |
| ENST00000508376.6:c.8429A>G | ENSP00000427089.2:p.Asn2810Ser | |
| ENST00000520401.1:c.231-12626A>G | ||
| NM_000038.5:c.8429A>G | NP_000029.2:p.Asn2810Ser | |
| NM_001127510.2:c.8429A>G | NP_001120982.1:p.Asn2810Ser | |
| NM_001127511.2:c.8375A>G | NP_001120983.2:p.Asn2792Ser | |
| NM_001354895.1:c.8429A>G | NP_001341824.1:p.Asn2810Ser | |
| NM_001354896.1:c.8483A>G | NP_001341825.1:p.Asn2828Ser | |
| NM_001354897.1:c.8459A>G | NP_001341826.1:p.Asn2820Ser | |
| NM_001354898.1:c.8354A>G | NP_001341827.1:p.Asn2785Ser | |
| NM_001354899.1:c.8345A>G | NP_001341828.1:p.Asn2782Ser | |
| NM_001354900.1:c.8306A>G | NP_001341829.1:p.Asn2769Ser | |
| NM_001354901.1:c.8252A>G | NP_001341830.1:p.Asn2751Ser | |
| NM_001354902.1:c.8156A>G | NP_001341831.1:p.Asn2719Ser | |
| NM_001354903.1:c.8126A>G | NP_001341832.1:p.Asn2709Ser | |
| NM_001354904.1:c.8051A>G | NP_001341833.1:p.Asn2684Ser | |
| NM_001354905.1:c.7949A>G | NP_001341834.1:p.Asn2650Ser | |
| NM_001354906.1:c.7580A>G | NP_001341835.1:p.Asn2527Ser | |
| NM_000038.6:c.8429A>G MANE Select | NP_000029.2:p.Asn2810Ser | |
| NM_001127510.3:c.8429A>G | NP_001120982.1:p.Asn2810Ser | |
| NM_001127511.3:c.8375A>G | NP_001120983.2:p.Asn2792Ser | |
| NM_001354895.2:c.8429A>G | NP_001341824.1:p.Asn2810Ser | |
| NM_001354896.2:c.8483A>G | NP_001341825.1:p.Asn2828Ser | |
| NM_001354897.2:c.8459A>G | NP_001341826.1:p.Asn2820Ser | |
| NM_001354898.2:c.8354A>G | NP_001341827.1:p.Asn2785Ser | |
| NM_001354899.2:c.8345A>G | NP_001341828.1:p.Asn2782Ser | |
| NM_001354900.2:c.8306A>G | NP_001341829.1:p.Asn2769Ser | |
| NM_001354901.2:c.8252A>G | NP_001341830.1:p.Asn2751Ser | |
| NM_001354902.2:c.8156A>G | NP_001341831.1:p.Asn2719Ser | |
| NM_001354903.2:c.8126A>G | NP_001341832.1:p.Asn2709Ser | |
| NM_001354904.2:c.8051A>G | NP_001341833.1:p.Asn2684Ser | |
| NM_001354905.2:c.7949A>G | NP_001341834.1:p.Asn2650Ser | |
| NM_001354906.2:c.7580A>G | NP_001341835.1:p.Asn2527Ser |