Linked Data
ClinVar Variation Id:
233903
dbSNP Id:
rs876660722
gnomAD v2:
5-112176583-G-C
gnomAD v3:
5-112840886-G-C
gnomAD v4:
5-112840886-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840886G>C , CM000667.2:g.112840886G>C | GRCh38 |
| NC_000005.9:g.112176583G>C , CM000667.1:g.112176583G>C | GRCh37 |
| NC_000005.8:g.112204482G>C | NCBI36 |
| NG_008481.4:g.153366G>C , LRG_130:g.153366G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.5346G>C | ENSP00000473355.2:p.Gln1782His | |
| ENST00000505350.2:c.*5298G>C | ENSP00000481752.1:n.*5298G>C | |
| ENST00000507379.6:c.5238G>C | ENSP00000423224.2:p.Gln1746His | |
| ENST00000509732.6:c.5292G>C | ENSP00000426541.2:p.Gln1764His | |
| ENST00000512211.7:c.5292G>C | ENSP00000423828.3:p.Gln1764His | |
| ENST00000257430.9:c.5292G>C MANE Select | ENSP00000257430.4:p.Gln1764His | |
| ENST00000257430.8:c.5292G>C | ENSP00000257430.4:p.Gln1764His | |
| ENST00000508376.6:c.5292G>C | ENSP00000427089.2:p.Gln1764His | |
| ENST00000508624.5:c.*4614G>C | ENSP00000424265.1:n.*4614G>C | |
| ENST00000520401.1:c.230+11914G>C | ||
| NM_000038.5:c.5292G>C | NP_000029.2:p.Gln1764His | |
| NM_001127510.2:c.5292G>C | NP_001120982.1:p.Gln1764His | |
| NM_001127511.2:c.5238G>C | NP_001120983.2:p.Gln1746His | |
| NM_001354895.1:c.5292G>C | NP_001341824.1:p.Gln1764His | |
| NM_001354896.1:c.5346G>C | NP_001341825.1:p.Gln1782His | |
| NM_001354897.1:c.5322G>C | NP_001341826.1:p.Gln1774His | |
| NM_001354898.1:c.5217G>C | NP_001341827.1:p.Gln1739His | |
| NM_001354899.1:c.5208G>C | NP_001341828.1:p.Gln1736His | |
| NM_001354900.1:c.5169G>C | NP_001341829.1:p.Gln1723His | |
| NM_001354901.1:c.5115G>C | NP_001341830.1:p.Gln1705His | |
| NM_001354902.1:c.5019G>C | NP_001341831.1:p.Gln1673His | |
| NM_001354903.1:c.4989G>C | NP_001341832.1:p.Gln1663His | |
| NM_001354904.1:c.4914G>C | NP_001341833.1:p.Gln1638His | |
| NM_001354905.1:c.4812G>C | NP_001341834.1:p.Gln1604His | |
| NM_001354906.1:c.4443G>C | NP_001341835.1:p.Gln1481His | |
| NM_000038.6:c.5292G>C MANE Select | NP_000029.2:p.Gln1764His | |
| NM_001127510.3:c.5292G>C | NP_001120982.1:p.Gln1764His | |
| NM_001127511.3:c.5238G>C | NP_001120983.2:p.Gln1746His | |
| NM_001354895.2:c.5292G>C | NP_001341824.1:p.Gln1764His | |
| NM_001354896.2:c.5346G>C | NP_001341825.1:p.Gln1782His | |
| NM_001354897.2:c.5322G>C | NP_001341826.1:p.Gln1774His | |
| NM_001354898.2:c.5217G>C | NP_001341827.1:p.Gln1739His | |
| NM_001354899.2:c.5208G>C | NP_001341828.1:p.Gln1736His | |
| NM_001354900.2:c.5169G>C | NP_001341829.1:p.Gln1723His | |
| NM_001354901.2:c.5115G>C | NP_001341830.1:p.Gln1705His | |
| NM_001354902.2:c.5019G>C | NP_001341831.1:p.Gln1673His | |
| NM_001354903.2:c.4989G>C | NP_001341832.1:p.Gln1663His | |
| NM_001354904.2:c.4914G>C | NP_001341833.1:p.Gln1638His | |
| NM_001354905.2:c.4812G>C | NP_001341834.1:p.Gln1604His | |
| NM_001354906.2:c.4443G>C | NP_001341835.1:p.Gln1481His |