Linked Data
ClinVar Variation Id:
1696383
dbSNP Id:
rs181843079
ExAC:
10:73468890 C / T
gnomAD v2:
10-73468890-C-T
gnomAD v3:
10-71709133-C-T
gnomAD v4:
10-71709133-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71709133C>T , CM000672.2:g.71709133C>T | GRCh38 |
| NC_000010.10:g.73468890C>T , CM000672.1:g.73468890C>T | GRCh37 |
| NC_000010.9:g.73138896C>T | NCBI36 |
| NG_008835.1:g.317187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3142C>T MANE Select | ENSP00000224721.9:p.Arg1048Cys | |
| ENST00000398809.9:c.3142C>T | ENSP00000381789.5:p.Arg1048Cys | |
| ENST00000442677.4:c.3142C>T | ENSP00000388894.3:p.Arg1048Cys | |
| ENST00000466757.8:c.2573C>T | ||
| ENST00000224721.10:c.3157C>T | ENSP00000224721.8:p.Arg1053Cys | |
| ENST00000398809.8:c.3142C>T | ENSP00000381789.5:p.Arg1048Cys | |
| ENST00000442677.3:c.1917C>T | ||
| ENST00000466757.7:c.2573C>T | ||
| ENST00000616684.4:c.3142C>T | ENSP00000482036.2:p.Arg1048Cys | |
| ENST00000622827.4:c.3142C>T | ENSP00000483211.1:p.Arg1048Cys | |
| NM_001171930.1:c.3142C>T | NP_001165401.1:p.Arg1048Cys | |
| NM_022124.5:c.3142C>T | NP_071407.4:p.Arg1048Cys | |
| XM_006717940.2:c.3337C>T | XP_006718003.1:p.Arg1113Cys | |
| XM_006717942.2:c.3271C>T | XP_006718005.1:p.Arg1091Cys | |
| XM_011540039.1:c.3337C>T | XP_011538341.1:p.Arg1113Cys | |
| XM_011540040.1:c.3331C>T | XP_011538342.1:p.Arg1111Cys | |
| XM_011540041.1:c.3277C>T | XP_011538343.1:p.Arg1093Cys | |
| XM_011540042.1:c.3337C>T | XP_011538344.1:p.Arg1113Cys | |
| XM_011540043.1:c.3337C>T | XP_011538345.1:p.Arg1113Cys | |
| XM_011540044.1:c.3202C>T | XP_011538346.1:p.Arg1068Cys | |
| XM_011540045.1:c.3337C>T | XP_011538347.1:p.Arg1113Cys | |
| XM_011540046.1:c.2797C>T | XP_011538348.1:p.Arg933Cys | |
| XM_011540047.1:c.2155C>T | XP_011538349.1:p.Arg719Cys | |
| XM_011540048.1:c.3337C>T | XP_011538350.1:p.Arg1113Cys | |
| XM_011540049.1:c.3337C>T | XP_011538351.1:p.Arg1113Cys | |
| XM_011540050.1:c.3337C>T | XP_011538352.1:p.Arg1113Cys | |
| XM_011540051.1:c.3337C>T | XP_011538353.1:p.Arg1113Cys | |
| XM_011540053.1:c.3337C>T | XP_011538355.1:p.Arg1113Cys | |
| XR_945796.1:n.3580C>T | ||
| NM_001171930.2:c.3142C>T | NP_001165401.1:p.Arg1048Cys | |
| NM_022124.6:c.3142C>T MANE Select | NP_071407.4:p.Arg1048Cys |