Linked Data
ClinVar Variation Id:
236622
dbSNP Id:
rs750404000
ExAC:
5:112176999 A / G
gnomAD v2:
5-112176999-A-G
gnomAD v4:
5-112841302-A-G
PubMed:
PMID:28157215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841302A>G , CM000667.2:g.112841302A>G | GRCh38 |
| NC_000005.9:g.112176999A>G , CM000667.1:g.112176999A>G | GRCh37 |
| NC_000005.8:g.112204898A>G | NCBI36 |
| NG_008481.4:g.153782A>G , LRG_130:g.153782A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5762A>G | ENSP00000473355.2:p.Asn1921Ser | |
| ENST00000505350.2:c.*5714A>G | ENSP00000481752.1:n.*5714A>G | |
| ENST00000507379.6:c.5654A>G | ENSP00000423224.2:p.Asn1885Ser | |
| ENST00000509732.6:c.5708A>G | ENSP00000426541.2:p.Asn1903Ser | |
| ENST00000512211.7:c.5708A>G | ENSP00000423828.3:p.Asn1903Ser | |
| ENST00000257430.9:c.5708A>G MANE Select | ENSP00000257430.4:p.Asn1903Ser | |
| ENST00000257430.8:c.5708A>G | ENSP00000257430.4:p.Asn1903Ser | |
| ENST00000508376.6:c.5708A>G | ENSP00000427089.2:p.Asn1903Ser | |
| ENST00000508624.5:c.*5030A>G | ENSP00000424265.1:n.*5030A>G | |
| ENST00000520401.1:c.230+12330A>G | ||
| NM_000038.5:c.5708A>G | NP_000029.2:p.Asn1903Ser | |
| NM_001127510.2:c.5708A>G | NP_001120982.1:p.Asn1903Ser | |
| NM_001127511.2:c.5654A>G | NP_001120983.2:p.Asn1885Ser | |
| NM_001354895.1:c.5708A>G | NP_001341824.1:p.Asn1903Ser | |
| NM_001354896.1:c.5762A>G | NP_001341825.1:p.Asn1921Ser | |
| NM_001354897.1:c.5738A>G | NP_001341826.1:p.Asn1913Ser | |
| NM_001354898.1:c.5633A>G | NP_001341827.1:p.Asn1878Ser | |
| NM_001354899.1:c.5624A>G | NP_001341828.1:p.Asn1875Ser | |
| NM_001354900.1:c.5585A>G | NP_001341829.1:p.Asn1862Ser | |
| NM_001354901.1:c.5531A>G | NP_001341830.1:p.Asn1844Ser | |
| NM_001354902.1:c.5435A>G | NP_001341831.1:p.Asn1812Ser | |
| NM_001354903.1:c.5405A>G | NP_001341832.1:p.Asn1802Ser | |
| NM_001354904.1:c.5330A>G | NP_001341833.1:p.Asn1777Ser | |
| NM_001354905.1:c.5228A>G | NP_001341834.1:p.Asn1743Ser | |
| NM_001354906.1:c.4859A>G | NP_001341835.1:p.Asn1620Ser | |
| NM_000038.6:c.5708A>G MANE Select | NP_000029.2:p.Asn1903Ser | |
| NM_001127510.3:c.5708A>G | NP_001120982.1:p.Asn1903Ser | |
| NM_001127511.3:c.5654A>G | NP_001120983.2:p.Asn1885Ser | |
| NM_001354895.2:c.5708A>G | NP_001341824.1:p.Asn1903Ser | |
| NM_001354896.2:c.5762A>G | NP_001341825.1:p.Asn1921Ser | |
| NM_001354897.2:c.5738A>G | NP_001341826.1:p.Asn1913Ser | |
| NM_001354898.2:c.5633A>G | NP_001341827.1:p.Asn1878Ser | |
| NM_001354899.2:c.5624A>G | NP_001341828.1:p.Asn1875Ser | |
| NM_001354900.2:c.5585A>G | NP_001341829.1:p.Asn1862Ser | |
| NM_001354901.2:c.5531A>G | NP_001341830.1:p.Asn1844Ser | |
| NM_001354902.2:c.5435A>G | NP_001341831.1:p.Asn1812Ser | |
| NM_001354903.2:c.5405A>G | NP_001341832.1:p.Asn1802Ser | |
| NM_001354904.2:c.5330A>G | NP_001341833.1:p.Asn1777Ser | |
| NM_001354905.2:c.5228A>G | NP_001341834.1:p.Asn1743Ser | |
| NM_001354906.2:c.4859A>G | NP_001341835.1:p.Asn1620Ser |