Linked Data
ClinVar Variation Id:
3230729
ClinVar RCV Id:
RCV004522844
dbSNP Id:
rs952662066
gnomAD v4:
5-112840927-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840927C>A , CM000667.2:g.112840927C>A | GRCh38 |
| NC_000005.9:g.112176624C>A , CM000667.1:g.112176624C>A | GRCh37 |
| NC_000005.8:g.112204523C>A | NCBI36 |
| NG_008481.4:g.153407C>A , LRG_130:g.153407C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5387C>A | ENSP00000473355.2:p.Pro1796His | |
| ENST00000505350.2:c.*5339C>A | ENSP00000481752.1:n.*5339C>A | |
| ENST00000507379.6:c.5279C>A | ENSP00000423224.2:p.Pro1760His | |
| ENST00000509732.6:c.5333C>A | ENSP00000426541.2:p.Pro1778His | |
| ENST00000512211.7:c.5333C>A | ENSP00000423828.3:p.Pro1778His | |
| ENST00000257430.9:c.5333C>A MANE Select | ENSP00000257430.4:p.Pro1778His | |
| ENST00000257430.8:c.5333C>A | ENSP00000257430.4:p.Pro1778His | |
| ENST00000508376.6:c.5333C>A | ENSP00000427089.2:p.Pro1778His | |
| ENST00000508624.5:c.*4655C>A | ENSP00000424265.1:n.*4655C>A | |
| ENST00000520401.1:c.230+11955C>A | ||
| NM_000038.5:c.5333C>A | NP_000029.2:p.Pro1778His | |
| NM_001127510.2:c.5333C>A | NP_001120982.1:p.Pro1778His | |
| NM_001127511.2:c.5279C>A | NP_001120983.2:p.Pro1760His | |
| NM_001354895.1:c.5333C>A | NP_001341824.1:p.Pro1778His | |
| NM_001354896.1:c.5387C>A | NP_001341825.1:p.Pro1796His | |
| NM_001354897.1:c.5363C>A | NP_001341826.1:p.Pro1788His | |
| NM_001354898.1:c.5258C>A | NP_001341827.1:p.Pro1753His | |
| NM_001354899.1:c.5249C>A | NP_001341828.1:p.Pro1750His | |
| NM_001354900.1:c.5210C>A | NP_001341829.1:p.Pro1737His | |
| NM_001354901.1:c.5156C>A | NP_001341830.1:p.Pro1719His | |
| NM_001354902.1:c.5060C>A | NP_001341831.1:p.Pro1687His | |
| NM_001354903.1:c.5030C>A | NP_001341832.1:p.Pro1677His | |
| NM_001354904.1:c.4955C>A | NP_001341833.1:p.Pro1652His | |
| NM_001354905.1:c.4853C>A | NP_001341834.1:p.Pro1618His | |
| NM_001354906.1:c.4484C>A | NP_001341835.1:p.Pro1495His | |
| NM_000038.6:c.5333C>A MANE Select | NP_000029.2:p.Pro1778His | |
| NM_001127510.3:c.5333C>A | NP_001120982.1:p.Pro1778His | |
| NM_001127511.3:c.5279C>A | NP_001120983.2:p.Pro1760His | |
| NM_001354895.2:c.5333C>A | NP_001341824.1:p.Pro1778His | |
| NM_001354896.2:c.5387C>A | NP_001341825.1:p.Pro1796His | |
| NM_001354897.2:c.5363C>A | NP_001341826.1:p.Pro1788His | |
| NM_001354898.2:c.5258C>A | NP_001341827.1:p.Pro1753His | |
| NM_001354899.2:c.5249C>A | NP_001341828.1:p.Pro1750His | |
| NM_001354900.2:c.5210C>A | NP_001341829.1:p.Pro1737His | |
| NM_001354901.2:c.5156C>A | NP_001341830.1:p.Pro1719His | |
| NM_001354902.2:c.5060C>A | NP_001341831.1:p.Pro1687His | |
| NM_001354903.2:c.5030C>A | NP_001341832.1:p.Pro1677His | |
| NM_001354904.2:c.4955C>A | NP_001341833.1:p.Pro1652His | |
| NM_001354905.2:c.4853C>A | NP_001341834.1:p.Pro1618His | |
| NM_001354906.2:c.4484C>A | NP_001341835.1:p.Pro1495His |