Linked Data
ClinVar Variation Id:
184580
dbSNP Id:
rs150209825
ExAC:
5:112173513 A / G
gnomAD v2:
5-112173513-A-G
gnomAD v3:
5-112837816-A-G
gnomAD v4:
5-112837816-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112837816A>G , CM000667.2:g.112837816A>G | GRCh38 |
| NC_000005.9:g.112173513A>G , CM000667.1:g.112173513A>G | GRCh37 |
| NC_000005.8:g.112201412A>G | NCBI36 |
| NG_008481.4:g.150296A>G , LRG_130:g.150296A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1887A>G | ENSP00000484935.2:n.1887A>G | |
| ENST00000504915.3:c.2276A>G | ENSP00000473355.2:p.Asn759Ser | |
| ENST00000505350.2:c.*2228A>G | ENSP00000481752.1:n.*2228A>G | |
| ENST00000507379.6:c.2168A>G | ENSP00000423224.2:p.Asn723Ser | |
| ENST00000509732.6:c.2222A>G | ENSP00000426541.2:p.Asn741Ser | |
| ENST00000512211.7:c.2222A>G | ENSP00000423828.3:p.Asn741Ser | |
| ENST00000257430.9:c.2222A>G MANE Select | ENSP00000257430.4:p.Asn741Ser | |
| ENST00000257430.8:c.2222A>G | ENSP00000257430.4:p.Asn741Ser | |
| ENST00000502371.2:c.575A>G | ||
| ENST00000507379.5:c.2168A>G | ENSP00000423224.1:p.Asn723Ser | |
| ENST00000508376.6:c.2222A>G | ENSP00000427089.2:p.Asn741Ser | |
| ENST00000508624.5:c.*1544A>G | ENSP00000424265.1:n.*1544A>G | |
| ENST00000512211.6:c.2222A>G | ENSP00000423828.2:p.Asn741Ser | |
| ENST00000520401.1:c.230+8844A>G | ||
| NM_000038.5:c.2222A>G | NP_000029.2:p.Asn741Ser | |
| NM_001127510.2:c.2222A>G | NP_001120982.1:p.Asn741Ser | |
| NM_001127511.2:c.2168A>G | NP_001120983.2:p.Asn723Ser | |
| NM_001354895.1:c.2222A>G | NP_001341824.1:p.Asn741Ser | |
| NM_001354896.1:c.2276A>G | NP_001341825.1:p.Asn759Ser | |
| NM_001354897.1:c.2252A>G | NP_001341826.1:p.Asn751Ser | |
| NM_001354898.1:c.2147A>G | NP_001341827.1:p.Asn716Ser | |
| NM_001354899.1:c.2138A>G | NP_001341828.1:p.Asn713Ser | |
| NM_001354900.1:c.2099A>G | NP_001341829.1:p.Asn700Ser | |
| NM_001354901.1:c.2045A>G | NP_001341830.1:p.Asn682Ser | |
| NM_001354902.1:c.1949A>G | NP_001341831.1:p.Asn650Ser | |
| NM_001354903.1:c.1919A>G | NP_001341832.1:p.Asn640Ser | |
| NM_001354904.1:c.1844A>G | NP_001341833.1:p.Asn615Ser | |
| NM_001354905.1:c.1742A>G | NP_001341834.1:p.Asn581Ser | |
| NM_001354906.1:c.1373A>G | NP_001341835.1:p.Asn458Ser | |
| NM_000038.6:c.2222A>G MANE Select | NP_000029.2:p.Asn741Ser | |
| NM_001127510.3:c.2222A>G | NP_001120982.1:p.Asn741Ser | |
| NM_001127511.3:c.2168A>G | NP_001120983.2:p.Asn723Ser | |
| NM_001354895.2:c.2222A>G | NP_001341824.1:p.Asn741Ser | |
| NM_001354896.2:c.2276A>G | NP_001341825.1:p.Asn759Ser | |
| NM_001354897.2:c.2252A>G | NP_001341826.1:p.Asn751Ser | |
| NM_001354898.2:c.2147A>G | NP_001341827.1:p.Asn716Ser | |
| NM_001354899.2:c.2138A>G | NP_001341828.1:p.Asn713Ser | |
| NM_001354900.2:c.2099A>G | NP_001341829.1:p.Asn700Ser | |
| NM_001354901.2:c.2045A>G | NP_001341830.1:p.Asn682Ser | |
| NM_001354902.2:c.1949A>G | NP_001341831.1:p.Asn650Ser | |
| NM_001354903.2:c.1919A>G | NP_001341832.1:p.Asn640Ser | |
| NM_001354904.2:c.1844A>G | NP_001341833.1:p.Asn615Ser | |
| NM_001354905.2:c.1742A>G | NP_001341834.1:p.Asn581Ser | |
| NM_001354906.2:c.1373A>G | NP_001341835.1:p.Asn458Ser |