Linked Data
ClinVar Variation Id:
350416
dbSNP Id:
rs773776516
ExAC:
5:112177185 A / C
gnomAD v2:
5-112177185-A-C
gnomAD v4:
5-112841488-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841488A>C , CM000667.2:g.112841488A>C | GRCh38 |
| NC_000005.9:g.112177185A>C , CM000667.1:g.112177185A>C | GRCh37 |
| NC_000005.8:g.112205084A>C | NCBI36 |
| NG_008481.4:g.153968A>C , LRG_130:g.153968A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5948A>C | ENSP00000473355.2:p.His1983Pro | |
| ENST00000505350.2:c.*5900A>C | ENSP00000481752.1:n.*5900A>C | |
| ENST00000507379.6:c.5840A>C | ENSP00000423224.2:p.His1947Pro | |
| ENST00000509732.6:c.5894A>C | ENSP00000426541.2:p.His1965Pro | |
| ENST00000512211.7:c.5894A>C | ENSP00000423828.3:p.His1965Pro | |
| ENST00000257430.9:c.5894A>C MANE Select | ENSP00000257430.4:p.His1965Pro | |
| ENST00000257430.8:c.5894A>C | ENSP00000257430.4:p.His1965Pro | |
| ENST00000508376.6:c.5894A>C | ENSP00000427089.2:p.His1965Pro | |
| ENST00000508624.5:c.*5216A>C | ENSP00000424265.1:n.*5216A>C | |
| ENST00000520401.1:c.230+12516A>C | ||
| NM_000038.5:c.5894A>C | NP_000029.2:p.His1965Pro | |
| NM_001127510.2:c.5894A>C | NP_001120982.1:p.His1965Pro | |
| NM_001127511.2:c.5840A>C | NP_001120983.2:p.His1947Pro | |
| NM_001354895.1:c.5894A>C | NP_001341824.1:p.His1965Pro | |
| NM_001354896.1:c.5948A>C | NP_001341825.1:p.His1983Pro | |
| NM_001354897.1:c.5924A>C | NP_001341826.1:p.His1975Pro | |
| NM_001354898.1:c.5819A>C | NP_001341827.1:p.His1940Pro | |
| NM_001354899.1:c.5810A>C | NP_001341828.1:p.His1937Pro | |
| NM_001354900.1:c.5771A>C | NP_001341829.1:p.His1924Pro | |
| NM_001354901.1:c.5717A>C | NP_001341830.1:p.His1906Pro | |
| NM_001354902.1:c.5621A>C | NP_001341831.1:p.His1874Pro | |
| NM_001354903.1:c.5591A>C | NP_001341832.1:p.His1864Pro | |
| NM_001354904.1:c.5516A>C | NP_001341833.1:p.His1839Pro | |
| NM_001354905.1:c.5414A>C | NP_001341834.1:p.His1805Pro | |
| NM_001354906.1:c.5045A>C | NP_001341835.1:p.His1682Pro | |
| NM_000038.6:c.5894A>C MANE Select | NP_000029.2:p.His1965Pro | |
| NM_001127510.3:c.5894A>C | NP_001120982.1:p.His1965Pro | |
| NM_001127511.3:c.5840A>C | NP_001120983.2:p.His1947Pro | |
| NM_001354895.2:c.5894A>C | NP_001341824.1:p.His1965Pro | |
| NM_001354896.2:c.5948A>C | NP_001341825.1:p.His1983Pro | |
| NM_001354897.2:c.5924A>C | NP_001341826.1:p.His1975Pro | |
| NM_001354898.2:c.5819A>C | NP_001341827.1:p.His1940Pro | |
| NM_001354899.2:c.5810A>C | NP_001341828.1:p.His1937Pro | |
| NM_001354900.2:c.5771A>C | NP_001341829.1:p.His1924Pro | |
| NM_001354901.2:c.5717A>C | NP_001341830.1:p.His1906Pro | |
| NM_001354902.2:c.5621A>C | NP_001341831.1:p.His1874Pro | |
| NM_001354903.2:c.5591A>C | NP_001341832.1:p.His1864Pro | |
| NM_001354904.2:c.5516A>C | NP_001341833.1:p.His1839Pro | |
| NM_001354905.2:c.5414A>C | NP_001341834.1:p.His1805Pro | |
| NM_001354906.2:c.5045A>C | NP_001341835.1:p.His1682Pro |