Linked Data
ClinVar Variation Id:
45962
dbSNP Id:
rs111033522
ExAC:
10:73537641 C / T
gnomAD v2:
10-73537641-C-T
gnomAD v3:
10-71777884-C-T
gnomAD v4:
10-71777884-C-T
COSMIC:
COSM4015616
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71777884C>T , CM000672.2:g.71777884C>T | GRCh38 |
| NC_000010.10:g.73537641C>T , CM000672.1:g.73537641C>T | GRCh37 |
| NC_000010.9:g.73207647C>T | NCBI36 |
| NG_008835.1:g.385938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5050C>T MANE Select | ENSP00000224721.9:p.Arg1684Cys | |
| ENST00000224721.10:c.5065C>T | ENSP00000224721.8:p.Arg1689Cys | |
| ENST00000622827.4:c.5050C>T | ENSP00000483211.1:p.Arg1684Cys | |
| NM_022124.5:c.5050C>T | NP_071407.4:p.Arg1684Cys | |
| XM_006717940.2:c.5245C>T | XP_006718003.1:p.Arg1749Cys | |
| XM_006717942.2:c.5179C>T | XP_006718005.1:p.Arg1727Cys | |
| XM_011540039.1:c.5242C>T | XP_011538341.1:p.Arg1748Cys | |
| XM_011540040.1:c.5239C>T | XP_011538342.1:p.Arg1747Cys | |
| XM_011540041.1:c.5185C>T | XP_011538343.1:p.Arg1729Cys | |
| XM_011540042.1:c.5245C>T | XP_011538344.1:p.Arg1749Cys | |
| XM_011540043.1:c.5245C>T | XP_011538345.1:p.Arg1749Cys | |
| XM_011540044.1:c.5110C>T | XP_011538346.1:p.Arg1704Cys | |
| XM_011540045.1:c.5245C>T | XP_011538347.1:p.Arg1749Cys | |
| XM_011540046.1:c.4705C>T | XP_011538348.1:p.Arg1569Cys | |
| XM_011540047.1:c.4063C>T | XP_011538349.1:p.Arg1355Cys | |
| XM_011540048.1:c.5245C>T | XP_011538350.1:p.Arg1749Cys | |
| XM_011540049.1:c.5245C>T | XP_011538351.1:p.Arg1749Cys | |
| XM_011540050.1:c.5245C>T | XP_011538352.1:p.Arg1749Cys | |
| XM_011540051.1:c.5245C>T | XP_011538353.1:p.Arg1749Cys | |
| XM_011540052.1:c.1573C>T | XP_011538354.1:p.Arg525Cys | |
| XM_011540053.1:c.5245C>T | XP_011538355.1:p.Arg1749Cys | |
| XR_945796.1:n.5488C>T | ||
| NM_022124.6:c.5050C>T MANE Select | NP_071407.4:p.Arg1684Cys |