Linked Data
ClinVar Variation Id:
231814
dbSNP Id:
rs747721259
ExAC:
5:112176715 C / T
gnomAD v2:
5-112176715-C-T
gnomAD v4:
5-112841018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841018C>T , CM000667.2:g.112841018C>T | GRCh38 |
| NC_000005.9:g.112176715C>T , CM000667.1:g.112176715C>T | GRCh37 |
| NC_000005.8:g.112204614C>T | NCBI36 |
| NG_008481.4:g.153498C>T , LRG_130:g.153498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5478C>T | ENSP00000473355.2:p.Asn1826= | |
| ENST00000505350.2:c.*5430C>T | ENSP00000481752.1:n.*5430C>T | |
| ENST00000507379.6:c.5370C>T | ENSP00000423224.2:p.Asn1790= | |
| ENST00000509732.6:c.5424C>T | ENSP00000426541.2:p.Asn1808= | |
| ENST00000512211.7:c.5424C>T | ENSP00000423828.3:p.Asn1808= | |
| ENST00000257430.9:c.5424C>T MANE Select | ENSP00000257430.4:p.Asn1808= | |
| ENST00000257430.8:c.5424C>T | ENSP00000257430.4:p.Asn1808= | |
| ENST00000508376.6:c.5424C>T | ENSP00000427089.2:p.Asn1808= | |
| ENST00000508624.5:c.*4746C>T | ENSP00000424265.1:n.*4746C>T | |
| ENST00000520401.1:c.230+12046C>T | ||
| NM_000038.5:c.5424C>T | NP_000029.2:p.Asn1808= | |
| NM_001127510.2:c.5424C>T | NP_001120982.1:p.Asn1808= | |
| NM_001127511.2:c.5370C>T | NP_001120983.2:p.Asn1790= | |
| NM_001354895.1:c.5424C>T | NP_001341824.1:p.Asn1808= | |
| NM_001354896.1:c.5478C>T | NP_001341825.1:p.Asn1826= | |
| NM_001354897.1:c.5454C>T | NP_001341826.1:p.Asn1818= | |
| NM_001354898.1:c.5349C>T | NP_001341827.1:p.Asn1783= | |
| NM_001354899.1:c.5340C>T | NP_001341828.1:p.Asn1780= | |
| NM_001354900.1:c.5301C>T | NP_001341829.1:p.Asn1767= | |
| NM_001354901.1:c.5247C>T | NP_001341830.1:p.Asn1749= | |
| NM_001354902.1:c.5151C>T | NP_001341831.1:p.Asn1717= | |
| NM_001354903.1:c.5121C>T | NP_001341832.1:p.Asn1707= | |
| NM_001354904.1:c.5046C>T | NP_001341833.1:p.Asn1682= | |
| NM_001354905.1:c.4944C>T | NP_001341834.1:p.Asn1648= | |
| NM_001354906.1:c.4575C>T | NP_001341835.1:p.Asn1525= | |
| NM_000038.6:c.5424C>T MANE Select | NP_000029.2:p.Asn1808= | |
| NM_001127510.3:c.5424C>T | NP_001120982.1:p.Asn1808= | |
| NM_001127511.3:c.5370C>T | NP_001120983.2:p.Asn1790= | |
| NM_001354895.2:c.5424C>T | NP_001341824.1:p.Asn1808= | |
| NM_001354896.2:c.5478C>T | NP_001341825.1:p.Asn1826= | |
| NM_001354897.2:c.5454C>T | NP_001341826.1:p.Asn1818= | |
| NM_001354898.2:c.5349C>T | NP_001341827.1:p.Asn1783= | |
| NM_001354899.2:c.5340C>T | NP_001341828.1:p.Asn1780= | |
| NM_001354900.2:c.5301C>T | NP_001341829.1:p.Asn1767= | |
| NM_001354901.2:c.5247C>T | NP_001341830.1:p.Asn1749= | |
| NM_001354902.2:c.5151C>T | NP_001341831.1:p.Asn1717= | |
| NM_001354903.2:c.5121C>T | NP_001341832.1:p.Asn1707= | |
| NM_001354904.2:c.5046C>T | NP_001341833.1:p.Asn1682= | |
| NM_001354905.2:c.4944C>T | NP_001341834.1:p.Asn1648= | |
| NM_001354906.2:c.4575C>T | NP_001341835.1:p.Asn1525= |