Linked Data
ClinVar Variation Id:
292840
ClinVar RCV Id:
RCV000263913
RCV000267234
RCV000278097
RCV000293451
RCV000318957
RCV000322274
RCV000333140
RCV000358640
RCV000373664
RCV000361986
RCV001099085
dbSNP Id:
rs557334569
ExAC:
1:156107591 G / A
gnomAD v2:
1-156107591-G-A
gnomAD v3:
1-156137800-G-A
gnomAD v4:
1-156137800-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137800G>A , CM000663.2:g.156137800G>A | GRCh38 |
| NC_000001.10:g.156107591G>A , CM000663.1:g.156107591G>A | GRCh37 |
| NC_000001.9:g.154374215G>A | NCBI36 |
| NG_008692.2:g.60228G>A , LRG_254:g.60228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1140+57G>A | ENSP00000426535.3:n.1140+57G>A | |
| ENST00000498722.3:n.987G>A | ||
| ENST00000682650.1:c.1608+568G>A | ENSP00000506904.1:n.1608+568G>A | |
| ENST00000683032.1:c.1698+57G>A | ENSP00000506771.1:n.1698+57G>A | |
| ENST00000683773.1:n.43+57G>A | ||
| ENST00000684195.1:c.*103G>A | ENSP00000508220.1:n.*103G>A | |
| ENST00000361308.9:c.1698+57G>A | ENSP00000355292.6:n.1698+57G>A | |
| ENST00000368300.9:c.1698+57G>A MANE Select | ENSP00000357283.4:n.1698+57G>A | |
| ENST00000496738.6:n.2214G>A | ||
| ENST00000674518.1:c.*1048+57G>A | ENSP00000502261.1:n.*1048+57G>A | |
| ENST00000674600.1:c.*1497+57G>A | ENSP00000501666.1:n.*1497+57G>A | |
| ENST00000674720.1:c.*317G>A | ENSP00000502798.1:n.*317G>A | |
| ENST00000675431.1:n.1448G>A | ||
| ENST00000675455.1:c.*1498+57G>A | ENSP00000501795.1:n.*1498+57G>A | |
| ENST00000675667.1:c.1698+57G>A | ENSP00000501803.1:n.1698+57G>A | |
| ENST00000675874.1:c.*1169+57G>A | ENSP00000501851.1:n.*1169+57G>A | |
| ENST00000675881.1:c.*709+57G>A | ENSP00000501670.1:n.*709+57G>A | |
| ENST00000675939.1:c.1698+57G>A | ENSP00000502256.1:n.1698+57G>A | |
| ENST00000675989.1:n.2614G>A | ||
| ENST00000676208.1:c.*801+57G>A | ENSP00000502468.1:n.*801+57G>A | |
| ENST00000676283.1:n.2551G>A | ||
| ENST00000676385.2:c.1608+568G>A | ENSP00000502091.1:n.1608+568G>A | |
| ENST00000676434.1:c.*766G>A | ENSP00000501648.1:n.*766G>A | |
| ENST00000677389.1:c.*36G>A MANE Plus Clinical | ENSP00000503633.1:n.*36G>A | |
| ENST00000347559.6:c.1608+568G>A | ENSP00000292304.3:n.1608+568G>A | |
| ENST00000368297.5:c.*36G>A | ENSP00000357280.1:n.*36G>A | |
| ENST00000368299.7:c.1698+57G>A | ENSP00000357282.3:n.1698+57G>A | |
| ENST00000368300.8:c.1698+57G>A | ENSP00000357283.4:n.1698+57G>A | |
| ENST00000368301.6:c.*36G>A | ENSP00000357284.2:n.*36G>A | |
| ENST00000448611.6:c.1362+57G>A | ENSP00000395597.2:n.1362+57G>A | |
| ENST00000473598.6:c.1401+57G>A | ENSP00000421821.1:n.1401+57G>A | |
| ENST00000496738.5:n.1224G>A | ||
| ENST00000498722.2:n.987G>A | ||
| ENST00000506981.1:n.282+57G>A | ||
| ENST00000508500.1:c.486+568G>A | ENSP00000424977.1:n.486+568G>A | |
| NM_001257374.2:c.1362+57G>A | NP_001244303.1:n.1362+57G>A | |
| NM_001282624.1:c.*36G>A | NP_001269553.1:n.*36G>A | |
| NM_001282625.1:c.*36G>A | NP_001269554.1:n.*36G>A | |
| NM_001282626.1:c.1698+57G>A | NP_001269555.1:n.1698+57G>A | |
| NM_005572.3:c.*36G>A , LRG_254t1:c.*36G>A | NP_005563.1:n.*36G>A | |
| NM_170707.3:c.1698+57G>A | NP_733821.1:n.1698+57G>A | |
| NM_170708.3:c.1608+568G>A | NP_733822.1:n.1608+568G>A | |
| XM_011509533.1:c.1362+57G>A | XP_011507835.1:n.1362+57G>A | |
| XM_011509534.1:c.1074+57G>A | XP_011507836.1:n.1074+57G>A | |
| XR_921781.1:n.1987+57G>A | ||
| XM_011509534.2:c.1074+57G>A | XP_011507836.1:n.1074+57G>A | |
| XR_921781.2:n.1985+57G>A | ||
| NM_170707.4:c.1698+57G>A MANE Select | NP_733821.1:n.1698+57G>A | |
| NM_001257374.3:c.1362+57G>A | NP_001244303.1:n.1362+57G>A | |
| NM_001282626.2:c.1698+57G>A | NP_001269555.1:n.1698+57G>A | |
| NM_001282624.2:c.*36G>A | NP_001269553.1:n.*36G>A | |
| NM_001282625.2:c.*36G>A | NP_001269554.1:n.*36G>A | |
| NM_005572.4:c.*36G>A MANE Plus Clinical | NP_005563.1:n.*36G>A | |
| NM_170708.4:c.1608+568G>A | NP_733822.1:n.1608+568G>A |