Linked Data
ClinVar Variation Id:
424917
dbSNP Id:
rs759016336
ExAC:
1:156108344 C / T
gnomAD v2:
1-156108344-C-T
gnomAD v3:
1-156138553-C-T
gnomAD v4:
1-156138553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138553C>T , CM000663.2:g.156138553C>T | GRCh38 |
| NC_000001.10:g.156108344C>T , CM000663.1:g.156108344C>T | GRCh37 |
| NC_000001.9:g.154374968C>T | NCBI36 |
| NG_008692.2:g.60981C>T , LRG_254:g.60981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1206C>T | ENSP00000426535.3:p.Cys402= | |
| ENST00000682650.1:c.1674C>T | ENSP00000506904.1:p.Cys558= | |
| ENST00000683032.1:c.1764C>T | ENSP00000506771.1:p.Cys588= | |
| ENST00000683773.1:n.109C>T | ||
| ENST00000684195.1:c.*856C>T | ENSP00000508220.1:n.*856C>T | |
| ENST00000361308.9:c.1764C>T | ENSP00000355292.6:p.Cys588= | |
| ENST00000368300.9:c.1764C>T MANE Select | ENSP00000357283.4:p.Cys588= | |
| ENST00000496738.6:n.2967C>T | ||
| ENST00000674518.1:c.*1114C>T | ENSP00000502261.1:n.*1114C>T | |
| ENST00000674600.1:c.*1563C>T | ENSP00000501666.1:n.*1563C>T | |
| ENST00000674720.1:c.*1070C>T | ENSP00000502798.1:n.*1070C>T | |
| ENST00000675455.1:c.*1564C>T | ENSP00000501795.1:n.*1564C>T | |
| ENST00000675667.1:c.1764C>T | ENSP00000501803.1:p.Cys588= | |
| ENST00000675874.1:c.*1235C>T | ENSP00000501851.1:n.*1235C>T | |
| ENST00000675881.1:c.*775C>T | ENSP00000501670.1:n.*775C>T | |
| ENST00000675939.1:c.1764C>T | ENSP00000502256.1:p.Cys588= | |
| ENST00000675989.1:n.3367C>T | ||
| ENST00000676208.1:c.*867C>T | ENSP00000502468.1:n.*867C>T | |
| ENST00000676283.1:n.3304C>T | ||
| ENST00000676385.2:c.1674C>T | ENSP00000502091.1:p.Cys558= | |
| ENST00000676434.1:c.*1519C>T | ENSP00000501648.1:n.*1519C>T | |
| ENST00000347559.6:c.1674C>T | ENSP00000292304.3:p.Cys558= | |
| ENST00000368299.7:c.1764C>T | ENSP00000357282.3:p.Cys588= | |
| ENST00000368300.8:c.1764C>T | ENSP00000357283.4:p.Cys588= | |
| ENST00000448611.6:c.1428C>T | ENSP00000395597.2:p.Cys476= | |
| ENST00000473598.6:c.1467C>T | ENSP00000421821.1:p.Cys489= | |
| ENST00000496738.5:n.1977C>T | ||
| ENST00000506981.1:n.348C>T | ||
| ENST00000508500.1:c.552C>T | ENSP00000424977.1:p.Cys184= | |
| NM_001257374.2:c.1428C>T | NP_001244303.1:p.Cys476= | |
| NM_001282626.1:c.1764C>T | NP_001269555.1:p.Cys588= | |
| NM_170707.3:c.1764C>T | NP_733821.1:p.Cys588= | |
| NM_170708.3:c.1674C>T | NP_733822.1:p.Cys558= | |
| XM_011509533.1:c.1428C>T | XP_011507835.1:p.Cys476= | |
| XM_011509534.1:c.1140C>T | XP_011507836.1:p.Cys380= | |
| XR_921781.1:n.2053C>T | ||
| XM_011509534.2:c.1140C>T | XP_011507836.1:p.Cys380= | |
| XR_921781.2:n.2051C>T | ||
| NM_170707.4:c.1764C>T MANE Select | NP_733821.1:p.Cys588= | |
| NM_001257374.3:c.1428C>T | NP_001244303.1:p.Cys476= | |
| NM_001282626.2:c.1764C>T | NP_001269555.1:p.Cys588= | |
| NM_170708.4:c.1674C>T | NP_733822.1:p.Cys558= |