Linked Data
ClinVar Variation Id:
1428375
ClinVar RCV Id:
RCV001936278
dbSNP Id:
rs1765864921
gnomAD v4:
5-112840758-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840758G>C , CM000667.2:g.112840758G>C | GRCh38 |
| NC_000005.9:g.112176455G>C , CM000667.1:g.112176455G>C | GRCh37 |
| NC_000005.8:g.112204354G>C | NCBI36 |
| NG_008481.4:g.153238G>C , LRG_130:g.153238G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5218G>C | ENSP00000473355.2:p.Asp1740His | |
| ENST00000505350.2:c.*5170G>C | ENSP00000481752.1:n.*5170G>C | |
| ENST00000507379.6:c.5110G>C | ENSP00000423224.2:p.Asp1704His | |
| ENST00000509732.6:c.5164G>C | ENSP00000426541.2:p.Asp1722His | |
| ENST00000512211.7:c.5164G>C | ENSP00000423828.3:p.Asp1722His | |
| ENST00000257430.9:c.5164G>C MANE Select | ENSP00000257430.4:p.Asp1722His | |
| ENST00000257430.8:c.5164G>C | ENSP00000257430.4:p.Asp1722His | |
| ENST00000508376.6:c.5164G>C | ENSP00000427089.2:p.Asp1722His | |
| ENST00000508624.5:c.*4486G>C | ENSP00000424265.1:n.*4486G>C | |
| ENST00000520401.1:c.230+11786G>C | ||
| NM_000038.5:c.5164G>C | NP_000029.2:p.Asp1722His | |
| NM_001127510.2:c.5164G>C | NP_001120982.1:p.Asp1722His | |
| NM_001127511.2:c.5110G>C | NP_001120983.2:p.Asp1704His | |
| NM_001354895.1:c.5164G>C | NP_001341824.1:p.Asp1722His | |
| NM_001354896.1:c.5218G>C | NP_001341825.1:p.Asp1740His | |
| NM_001354897.1:c.5194G>C | NP_001341826.1:p.Asp1732His | |
| NM_001354898.1:c.5089G>C | NP_001341827.1:p.Asp1697His | |
| NM_001354899.1:c.5080G>C | NP_001341828.1:p.Asp1694His | |
| NM_001354900.1:c.5041G>C | NP_001341829.1:p.Asp1681His | |
| NM_001354901.1:c.4987G>C | NP_001341830.1:p.Asp1663His | |
| NM_001354902.1:c.4891G>C | NP_001341831.1:p.Asp1631His | |
| NM_001354903.1:c.4861G>C | NP_001341832.1:p.Asp1621His | |
| NM_001354904.1:c.4786G>C | NP_001341833.1:p.Asp1596His | |
| NM_001354905.1:c.4684G>C | NP_001341834.1:p.Asp1562His | |
| NM_001354906.1:c.4315G>C | NP_001341835.1:p.Asp1439His | |
| NM_000038.6:c.5164G>C MANE Select | NP_000029.2:p.Asp1722His | |
| NM_001127510.3:c.5164G>C | NP_001120982.1:p.Asp1722His | |
| NM_001127511.3:c.5110G>C | NP_001120983.2:p.Asp1704His | |
| NM_001354895.2:c.5164G>C | NP_001341824.1:p.Asp1722His | |
| NM_001354896.2:c.5218G>C | NP_001341825.1:p.Asp1740His | |
| NM_001354897.2:c.5194G>C | NP_001341826.1:p.Asp1732His | |
| NM_001354898.2:c.5089G>C | NP_001341827.1:p.Asp1697His | |
| NM_001354899.2:c.5080G>C | NP_001341828.1:p.Asp1694His | |
| NM_001354900.2:c.5041G>C | NP_001341829.1:p.Asp1681His | |
| NM_001354901.2:c.4987G>C | NP_001341830.1:p.Asp1663His | |
| NM_001354902.2:c.4891G>C | NP_001341831.1:p.Asp1631His | |
| NM_001354903.2:c.4861G>C | NP_001341832.1:p.Asp1621His | |
| NM_001354904.2:c.4786G>C | NP_001341833.1:p.Asp1596His | |
| NM_001354905.2:c.4684G>C | NP_001341834.1:p.Asp1562His | |
| NM_001354906.2:c.4315G>C | NP_001341835.1:p.Asp1439His |