Linked Data
ClinVar Variation Id:
48043
ClinVar RCV Id:
RCV000041322
RCV000233927
RCV000285909
RCV000289458
RCV000242680
RCV000337260
RCV000340752
RCV000262946
RCV000380292
RCV000320484
RCV000377490
RCV000399953
RCV001093764
RCV001172631
RCV001310873
RCV000777760
RCV001098994
dbSNP Id:
rs149339264
ExAC:
1:156106981 C / T
gnomAD v2:
1-156106981-C-T
gnomAD v3:
1-156137190-C-T
gnomAD v4:
1-156137190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137190C>T , CM000663.2:g.156137190C>T | GRCh38 |
| NC_000001.10:g.156106981C>T , CM000663.1:g.156106981C>T | GRCh37 |
| NC_000001.9:g.154373605C>T | NCBI36 |
| NG_008692.2:g.59618C>T , LRG_254:g.59618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1008C>T | ENSP00000426535.3:p.Cys336= | |
| ENST00000459904.2:n.814C>T | ||
| ENST00000498722.3:n.798C>T | ||
| ENST00000682650.1:c.1566C>T | ENSP00000506904.1:p.Cys522= | |
| ENST00000683032.1:c.1566C>T | ENSP00000506771.1:p.Cys522= | |
| ENST00000684195.1:c.1566C>T | ENSP00000508220.1:p.Cys522= | |
| ENST00000361308.9:c.1566C>T | ENSP00000355292.6:p.Cys522= | |
| ENST00000368300.9:c.1566C>T MANE Select | ENSP00000357283.4:p.Cys522= | |
| ENST00000496738.6:n.2025C>T | ||
| ENST00000674518.1:c.*916C>T | ENSP00000502261.1:n.*916C>T | |
| ENST00000674600.1:c.*1365C>T | ENSP00000501666.1:n.*1365C>T | |
| ENST00000674720.1:c.*128C>T | ENSP00000502798.1:n.*128C>T | |
| ENST00000675431.1:n.1259C>T | ||
| ENST00000675455.1:c.*1366C>T | ENSP00000501795.1:n.*1366C>T | |
| ENST00000675667.1:c.1566C>T | ENSP00000501803.1:p.Cys522= | |
| ENST00000675874.1:c.*1037C>T | ENSP00000501851.1:n.*1037C>T | |
| ENST00000675881.1:c.*577C>T | ENSP00000501670.1:n.*577C>T | |
| ENST00000675939.1:c.1566C>T | ENSP00000502256.1:p.Cys522= | |
| ENST00000675989.1:n.2425C>T | ||
| ENST00000676208.1:c.*669C>T | ENSP00000502468.1:n.*669C>T | |
| ENST00000676283.1:n.1941C>T | ||
| ENST00000676385.2:c.1566C>T | ENSP00000502091.1:p.Cys522= | |
| ENST00000676434.1:c.*577C>T | ENSP00000501648.1:n.*577C>T | |
| ENST00000677389.1:c.1566C>T MANE Plus Clinical | ENSP00000503633.1:p.Cys522= | |
| ENST00000347559.6:c.1566C>T | ENSP00000292304.3:p.Cys522= | |
| ENST00000361308.8:c.1312-1C>T | ENSP00000355292.5:n.1312-1C>T | |
| ENST00000368297.5:c.1323C>T | ENSP00000357280.1:p.Cys441= | |
| ENST00000368298.2:n.1398C>T | ||
| ENST00000368299.7:c.1566C>T | ENSP00000357282.3:p.Cys522= | |
| ENST00000368300.8:c.1566C>T | ENSP00000357283.4:p.Cys522= | |
| ENST00000368301.6:c.1566C>T | ENSP00000357284.2:p.Cys522= | |
| ENST00000448611.6:c.1230C>T | ENSP00000395597.2:p.Cys410= | |
| ENST00000459904.1:n.814C>T | ||
| ENST00000473598.6:c.1269C>T | ENSP00000421821.1:p.Cys423= | |
| ENST00000496738.5:n.1035C>T | ||
| ENST00000498722.2:n.798C>T | ||
| ENST00000508500.1:c.444C>T | ENSP00000424977.1:p.Cys148= | |
| NM_001257374.2:c.1230C>T | NP_001244303.1:p.Cys410= | |
| NM_001282624.1:c.1323C>T | NP_001269553.1:p.Cys441= | |
| NM_001282625.1:c.1566C>T | NP_001269554.1:p.Cys522= | |
| NM_001282626.1:c.1566C>T | NP_001269555.1:p.Cys522= | |
| NM_005572.3:c.1566C>T , LRG_254t1:c.1566C>T | NP_005563.1:p.Cys522= | |
| NM_170707.3:c.1566C>T | NP_733821.1:p.Cys522= | |
| NM_170708.3:c.1566C>T | NP_733822.1:p.Cys522= | |
| XM_011509533.1:c.1230C>T | XP_011507835.1:p.Cys410= | |
| XM_011509534.1:c.942C>T | XP_011507836.1:p.Cys314= | |
| XR_921781.1:n.1855C>T | ||
| XM_011509534.2:c.942C>T | XP_011507836.1:p.Cys314= | |
| XR_921781.2:n.1853C>T | ||
| NM_170707.4:c.1566C>T MANE Select | NP_733821.1:p.Cys522= | |
| NM_001257374.3:c.1230C>T | NP_001244303.1:p.Cys410= | |
| NM_001282626.2:c.1566C>T | NP_001269555.1:p.Cys522= | |
| NM_001282624.2:c.1323C>T | NP_001269553.1:p.Cys441= | |
| NM_001282625.2:c.1566C>T | NP_001269554.1:p.Cys522= | |
| NM_005572.4:c.1566C>T MANE Plus Clinical | NP_005563.1:p.Cys522= | |
| NM_170708.4:c.1566C>T | NP_733822.1:p.Cys522= |