Linked Data
ClinVar Variation Id:
246324
dbSNP Id:
rs374464049
ExAC:
5:112177949 A / G
gnomAD v2:
5-112177949-A-G
gnomAD v3:
5-112842252-A-G
gnomAD v4:
5-112842252-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842252A>G , CM000667.2:g.112842252A>G | GRCh38 |
| NC_000005.9:g.112177949A>G , CM000667.1:g.112177949A>G | GRCh37 |
| NC_000005.8:g.112205848A>G | NCBI36 |
| NG_008481.4:g.154732A>G , LRG_130:g.154732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6712A>G | ENSP00000473355.2:p.Asn2238Asp | |
| ENST00000505350.2:c.*6664A>G | ENSP00000481752.1:n.*6664A>G | |
| ENST00000507379.6:c.6604A>G | ENSP00000423224.2:p.Asn2202Asp | |
| ENST00000509732.6:c.6658A>G | ENSP00000426541.2:p.Asn2220Asp | |
| ENST00000512211.7:c.6658A>G | ENSP00000423828.3:p.Asn2220Asp | |
| ENST00000257430.9:c.6658A>G MANE Select | ENSP00000257430.4:p.Asn2220Asp | |
| ENST00000257430.8:c.6658A>G | ENSP00000257430.4:p.Asn2220Asp | |
| ENST00000508376.6:c.6658A>G | ENSP00000427089.2:p.Asn2220Asp | |
| ENST00000508624.5:c.*5980A>G | ENSP00000424265.1:n.*5980A>G | |
| ENST00000520401.1:c.230+13280A>G | ||
| NM_000038.5:c.6658A>G | NP_000029.2:p.Asn2220Asp | |
| NM_001127510.2:c.6658A>G | NP_001120982.1:p.Asn2220Asp | |
| NM_001127511.2:c.6604A>G | NP_001120983.2:p.Asn2202Asp | |
| NM_001354895.1:c.6658A>G | NP_001341824.1:p.Asn2220Asp | |
| NM_001354896.1:c.6712A>G | NP_001341825.1:p.Asn2238Asp | |
| NM_001354897.1:c.6688A>G | NP_001341826.1:p.Asn2230Asp | |
| NM_001354898.1:c.6583A>G | NP_001341827.1:p.Asn2195Asp | |
| NM_001354899.1:c.6574A>G | NP_001341828.1:p.Asn2192Asp | |
| NM_001354900.1:c.6535A>G | NP_001341829.1:p.Asn2179Asp | |
| NM_001354901.1:c.6481A>G | NP_001341830.1:p.Asn2161Asp | |
| NM_001354902.1:c.6385A>G | NP_001341831.1:p.Asn2129Asp | |
| NM_001354903.1:c.6355A>G | NP_001341832.1:p.Asn2119Asp | |
| NM_001354904.1:c.6280A>G | NP_001341833.1:p.Asn2094Asp | |
| NM_001354905.1:c.6178A>G | NP_001341834.1:p.Asn2060Asp | |
| NM_001354906.1:c.5809A>G | NP_001341835.1:p.Asn1937Asp | |
| NM_000038.6:c.6658A>G MANE Select | NP_000029.2:p.Asn2220Asp | |
| NM_001127510.3:c.6658A>G | NP_001120982.1:p.Asn2220Asp | |
| NM_001127511.3:c.6604A>G | NP_001120983.2:p.Asn2202Asp | |
| NM_001354895.2:c.6658A>G | NP_001341824.1:p.Asn2220Asp | |
| NM_001354896.2:c.6712A>G | NP_001341825.1:p.Asn2238Asp | |
| NM_001354897.2:c.6688A>G | NP_001341826.1:p.Asn2230Asp | |
| NM_001354898.2:c.6583A>G | NP_001341827.1:p.Asn2195Asp | |
| NM_001354899.2:c.6574A>G | NP_001341828.1:p.Asn2192Asp | |
| NM_001354900.2:c.6535A>G | NP_001341829.1:p.Asn2179Asp | |
| NM_001354901.2:c.6481A>G | NP_001341830.1:p.Asn2161Asp | |
| NM_001354902.2:c.6385A>G | NP_001341831.1:p.Asn2129Asp | |
| NM_001354903.2:c.6355A>G | NP_001341832.1:p.Asn2119Asp | |
| NM_001354904.2:c.6280A>G | NP_001341833.1:p.Asn2094Asp | |
| NM_001354905.2:c.6178A>G | NP_001341834.1:p.Asn2060Asp | |
| NM_001354906.2:c.5809A>G | NP_001341835.1:p.Asn1937Asp |