Linked Data
ClinVar Variation Id:
220313
dbSNP Id:
rs756153152
ExAC:
5:112178434 A / C
gnomAD v2:
5-112178434-A-C
gnomAD v3:
5-112842737-A-C
gnomAD v4:
5-112842737-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842737A>C , CM000667.2:g.112842737A>C | GRCh38 |
| NC_000005.9:g.112178434A>C , CM000667.1:g.112178434A>C | GRCh37 |
| NC_000005.8:g.112206333A>C | NCBI36 |
| NG_008481.4:g.155217A>C , LRG_130:g.155217A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7197A>C | ENSP00000473355.2:p.Gln2399His | |
| ENST00000505350.2:c.*7149A>C | ENSP00000481752.1:n.*7149A>C | |
| ENST00000507379.6:c.7089A>C | ENSP00000423224.2:p.Gln2363His | |
| ENST00000509732.6:c.7143A>C | ENSP00000426541.2:p.Gln2381His | |
| ENST00000512211.7:c.7143A>C | ENSP00000423828.3:p.Gln2381His | |
| ENST00000257430.9:c.7143A>C MANE Select | ENSP00000257430.4:p.Gln2381His | |
| ENST00000257430.8:c.7143A>C | ENSP00000257430.4:p.Gln2381His | |
| ENST00000508376.6:c.7143A>C | ENSP00000427089.2:p.Gln2381His | |
| ENST00000508624.5:c.*6465A>C | ENSP00000424265.1:n.*6465A>C | |
| ENST00000520401.1:c.230+13765A>C | ||
| NM_000038.5:c.7143A>C | NP_000029.2:p.Gln2381His | |
| NM_001127510.2:c.7143A>C | NP_001120982.1:p.Gln2381His | |
| NM_001127511.2:c.7089A>C | NP_001120983.2:p.Gln2363His | |
| NM_001354895.1:c.7143A>C | NP_001341824.1:p.Gln2381His | |
| NM_001354896.1:c.7197A>C | NP_001341825.1:p.Gln2399His | |
| NM_001354897.1:c.7173A>C | NP_001341826.1:p.Gln2391His | |
| NM_001354898.1:c.7068A>C | NP_001341827.1:p.Gln2356His | |
| NM_001354899.1:c.7059A>C | NP_001341828.1:p.Gln2353His | |
| NM_001354900.1:c.7020A>C | NP_001341829.1:p.Gln2340His | |
| NM_001354901.1:c.6966A>C | NP_001341830.1:p.Gln2322His | |
| NM_001354902.1:c.6870A>C | NP_001341831.1:p.Gln2290His | |
| NM_001354903.1:c.6840A>C | NP_001341832.1:p.Gln2280His | |
| NM_001354904.1:c.6765A>C | NP_001341833.1:p.Gln2255His | |
| NM_001354905.1:c.6663A>C | NP_001341834.1:p.Gln2221His | |
| NM_001354906.1:c.6294A>C | NP_001341835.1:p.Gln2098His | |
| NM_000038.6:c.7143A>C MANE Select | NP_000029.2:p.Gln2381His | |
| NM_001127510.3:c.7143A>C | NP_001120982.1:p.Gln2381His | |
| NM_001127511.3:c.7089A>C | NP_001120983.2:p.Gln2363His | |
| NM_001354895.2:c.7143A>C | NP_001341824.1:p.Gln2381His | |
| NM_001354896.2:c.7197A>C | NP_001341825.1:p.Gln2399His | |
| NM_001354897.2:c.7173A>C | NP_001341826.1:p.Gln2391His | |
| NM_001354898.2:c.7068A>C | NP_001341827.1:p.Gln2356His | |
| NM_001354899.2:c.7059A>C | NP_001341828.1:p.Gln2353His | |
| NM_001354900.2:c.7020A>C | NP_001341829.1:p.Gln2340His | |
| NM_001354901.2:c.6966A>C | NP_001341830.1:p.Gln2322His | |
| NM_001354902.2:c.6870A>C | NP_001341831.1:p.Gln2290His | |
| NM_001354903.2:c.6840A>C | NP_001341832.1:p.Gln2280His | |
| NM_001354904.2:c.6765A>C | NP_001341833.1:p.Gln2255His | |
| NM_001354905.2:c.6663A>C | NP_001341834.1:p.Gln2221His | |
| NM_001354906.2:c.6294A>C | NP_001341835.1:p.Gln2098His |