Linked Data
ClinVar Variation Id:
292839
ClinVar RCV Id:
RCV000272434
RCV000279873
RCV000283389
RCV000295329
RCV000337310
RCV000341138
RCV000329882
RCV000364565
RCV000387328
RCV000399235
RCV000424743
RCV000733840
RCV000769730
RCV001093869
RCV001097147
RCV002392823
RCV003995796
dbSNP Id:
rs375516745
ExAC:
1:156106819 G / A
gnomAD v2:
1-156106819-G-A
gnomAD v3:
1-156137028-G-A
gnomAD v4:
1-156137028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137028G>A , CM000663.2:g.156137028G>A | GRCh38 |
| NC_000001.10:g.156106819G>A , CM000663.1:g.156106819G>A | GRCh37 |
| NC_000001.9:g.154373443G>A | NCBI36 |
| NG_008692.2:g.59456G>A , LRG_254:g.59456G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.930G>A | ENSP00000426535.3:p.Thr310= | |
| ENST00000459904.2:n.736G>A | ||
| ENST00000498722.3:n.720G>A | ||
| ENST00000682650.1:c.1488G>A | ENSP00000506904.1:p.Thr496= | |
| ENST00000683032.1:c.1488G>A | ENSP00000506771.1:p.Thr496= | |
| ENST00000684195.1:c.1488G>A | ENSP00000508220.1:p.Thr496= | |
| ENST00000361308.9:c.1488G>A | ENSP00000355292.6:p.Thr496= | |
| ENST00000368300.9:c.1488G>A MANE Select | ENSP00000357283.4:p.Thr496= | |
| ENST00000496738.6:n.1863G>A | ||
| ENST00000674518.1:c.*838G>A | ENSP00000502261.1:n.*838G>A | |
| ENST00000674600.1:c.*1287G>A | ENSP00000501666.1:n.*1287G>A | |
| ENST00000674720.1:c.*50G>A | ENSP00000502798.1:n.*50G>A | |
| ENST00000675431.1:n.1181G>A | ||
| ENST00000675455.1:c.*1288G>A | ENSP00000501795.1:n.*1288G>A | |
| ENST00000675667.1:c.1488G>A | ENSP00000501803.1:p.Thr496= | |
| ENST00000675874.1:c.*959G>A | ENSP00000501851.1:n.*959G>A | |
| ENST00000675881.1:c.*499G>A | ENSP00000501670.1:n.*499G>A | |
| ENST00000675939.1:c.1488G>A | ENSP00000502256.1:p.Thr496= | |
| ENST00000675989.1:n.2347G>A | ||
| ENST00000676208.1:c.*591G>A | ENSP00000502468.1:n.*591G>A | |
| ENST00000676283.1:n.1863G>A | ||
| ENST00000676385.2:c.1488G>A | ENSP00000502091.1:p.Thr496= | |
| ENST00000676434.1:c.*499G>A | ENSP00000501648.1:n.*499G>A | |
| ENST00000677389.1:c.1488G>A MANE Plus Clinical | ENSP00000503633.1:p.Thr496= | |
| ENST00000347559.6:c.1488G>A | ENSP00000292304.3:p.Thr496= | |
| ENST00000361308.8:c.1312-163G>A | ENSP00000355292.5:n.1312-163G>A | |
| ENST00000368297.5:c.1245G>A | ENSP00000357280.1:p.Thr415= | |
| ENST00000368298.2:n.1236G>A | ||
| ENST00000368299.7:c.1488G>A | ENSP00000357282.3:p.Thr496= | |
| ENST00000368300.8:c.1488G>A | ENSP00000357283.4:p.Thr496= | |
| ENST00000368301.6:c.1488G>A | ENSP00000357284.2:p.Thr496= | |
| ENST00000448611.6:c.1152G>A | ENSP00000395597.2:p.Thr384= | |
| ENST00000459904.1:n.736G>A | ||
| ENST00000473598.6:c.1191G>A | ENSP00000421821.1:p.Thr397= | |
| ENST00000496738.5:n.873G>A | ||
| ENST00000498722.2:n.720G>A | ||
| ENST00000508500.1:c.366G>A | ENSP00000424977.1:p.Thr122= | |
| NM_001257374.2:c.1152G>A | NP_001244303.1:p.Thr384= | |
| NM_001282624.1:c.1245G>A | NP_001269553.1:p.Thr415= | |
| NM_001282625.1:c.1488G>A | NP_001269554.1:p.Thr496= | |
| NM_001282626.1:c.1488G>A | NP_001269555.1:p.Thr496= | |
| NM_005572.3:c.1488G>A , LRG_254t1:c.1488G>A | NP_005563.1:p.Thr496= | |
| NM_170707.3:c.1488G>A | NP_733821.1:p.Thr496= | |
| NM_170708.3:c.1488G>A | NP_733822.1:p.Thr496= | |
| XM_011509533.1:c.1152G>A | XP_011507835.1:p.Thr384= | |
| XM_011509534.1:c.864G>A | XP_011507836.1:p.Thr288= | |
| XR_921781.1:n.1777G>A | ||
| XM_011509534.2:c.864G>A | XP_011507836.1:p.Thr288= | |
| XR_921781.2:n.1775G>A | ||
| NM_170707.4:c.1488G>A MANE Select | NP_733821.1:p.Thr496= | |
| NM_001257374.3:c.1152G>A | NP_001244303.1:p.Thr384= | |
| NM_001282626.2:c.1488G>A | NP_001269555.1:p.Thr496= | |
| NM_001282624.2:c.1245G>A | NP_001269553.1:p.Thr415= | |
| NM_001282625.2:c.1488G>A | NP_001269554.1:p.Thr496= | |
| NM_005572.4:c.1488G>A MANE Plus Clinical | NP_005563.1:p.Thr496= | |
| NM_170708.4:c.1488G>A | NP_733822.1:p.Thr496= |