Linked Data
ClinVar Variation Id:
482326
dbSNP Id:
rs771096141
gnomAD v3:
5-112840185-A-C
gnomAD v4:
5-112840185-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840185A>C , CM000667.2:g.112840185A>C | GRCh38 |
| NC_000005.9:g.112175882A>C , CM000667.1:g.112175882A>C | GRCh37 |
| NC_000005.8:g.112203781A>C | NCBI36 |
| NG_008481.4:g.152665A>C , LRG_130:g.152665A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4645A>C | ENSP00000473355.2:p.Asn1549His | |
| ENST00000505350.2:c.*4597A>C | ENSP00000481752.1:n.*4597A>C | |
| ENST00000507379.6:c.4537A>C | ENSP00000423224.2:p.Asn1513His | |
| ENST00000509732.6:c.4591A>C | ENSP00000426541.2:p.Asn1531His | |
| ENST00000512211.7:c.4591A>C | ENSP00000423828.3:p.Asn1531His | |
| ENST00000257430.9:c.4591A>C MANE Select | ENSP00000257430.4:p.Asn1531His | |
| ENST00000257430.8:c.4591A>C | ENSP00000257430.4:p.Asn1531His | |
| ENST00000508376.6:c.4591A>C | ENSP00000427089.2:p.Asn1531His | |
| ENST00000508624.5:c.*3913A>C | ENSP00000424265.1:n.*3913A>C | |
| ENST00000520401.1:c.230+11213A>C | ||
| NM_000038.5:c.4591A>C | NP_000029.2:p.Asn1531His | |
| NM_001127510.2:c.4591A>C | NP_001120982.1:p.Asn1531His | |
| NM_001127511.2:c.4537A>C | NP_001120983.2:p.Asn1513His | |
| NM_001354895.1:c.4591A>C | NP_001341824.1:p.Asn1531His | |
| NM_001354896.1:c.4645A>C | NP_001341825.1:p.Asn1549His | |
| NM_001354897.1:c.4621A>C | NP_001341826.1:p.Asn1541His | |
| NM_001354898.1:c.4516A>C | NP_001341827.1:p.Asn1506His | |
| NM_001354899.1:c.4507A>C | NP_001341828.1:p.Asn1503His | |
| NM_001354900.1:c.4468A>C | NP_001341829.1:p.Asn1490His | |
| NM_001354901.1:c.4414A>C | NP_001341830.1:p.Asn1472His | |
| NM_001354902.1:c.4318A>C | NP_001341831.1:p.Asn1440His | |
| NM_001354903.1:c.4288A>C | NP_001341832.1:p.Asn1430His | |
| NM_001354904.1:c.4213A>C | NP_001341833.1:p.Asn1405His | |
| NM_001354905.1:c.4111A>C | NP_001341834.1:p.Asn1371His | |
| NM_001354906.1:c.3742A>C | NP_001341835.1:p.Asn1248His | |
| NM_000038.6:c.4591A>C MANE Select | NP_000029.2:p.Asn1531His | |
| NM_001127510.3:c.4591A>C | NP_001120982.1:p.Asn1531His | |
| NM_001127511.3:c.4537A>C | NP_001120983.2:p.Asn1513His | |
| NM_001354895.2:c.4591A>C | NP_001341824.1:p.Asn1531His | |
| NM_001354896.2:c.4645A>C | NP_001341825.1:p.Asn1549His | |
| NM_001354897.2:c.4621A>C | NP_001341826.1:p.Asn1541His | |
| NM_001354898.2:c.4516A>C | NP_001341827.1:p.Asn1506His | |
| NM_001354899.2:c.4507A>C | NP_001341828.1:p.Asn1503His | |
| NM_001354900.2:c.4468A>C | NP_001341829.1:p.Asn1490His | |
| NM_001354901.2:c.4414A>C | NP_001341830.1:p.Asn1472His | |
| NM_001354902.2:c.4318A>C | NP_001341831.1:p.Asn1440His | |
| NM_001354903.2:c.4288A>C | NP_001341832.1:p.Asn1430His | |
| NM_001354904.2:c.4213A>C | NP_001341833.1:p.Asn1405His | |
| NM_001354905.2:c.4111A>C | NP_001341834.1:p.Asn1371His | |
| NM_001354906.2:c.3742A>C | NP_001341835.1:p.Asn1248His |