Linked Data
ClinVar Variation Id:
14517
ClinVar RCV Id:
RCV000015612
RCV000015613
RCV000015614
RCV000057351
RCV000041329
RCV000617932
RCV000653881
RCV001188887
RCV002221478
RCV002509159
RCV001248900
dbSNP Id:
rs60890628
ExAC:
1:156108298 C / T
gnomAD v2:
1-156108298-C-T
gnomAD v3:
1-156138507-C-T
gnomAD v4:
1-156138507-C-T
COSMIC:
COSM4698227
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138507C>T , CM000663.2:g.156138507C>T | GRCh38 |
| NC_000001.10:g.156108298C>T , CM000663.1:g.156108298C>T | GRCh37 |
| NC_000001.9:g.154374922C>T | NCBI36 |
| NG_008692.2:g.60935C>T , LRG_254:g.60935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1160C>T | ENSP00000426535.3:p.Ser387Leu | |
| ENST00000682650.1:c.1628C>T | ENSP00000506904.1:p.Ser543Leu | |
| ENST00000683032.1:c.1718C>T | ENSP00000506771.1:p.Ser573Leu | |
| ENST00000683773.1:n.63C>T | ||
| ENST00000684195.1:c.*810C>T | ENSP00000508220.1:n.*810C>T | |
| ENST00000361308.9:c.1718C>T | ENSP00000355292.6:p.Ser573Leu | |
| ENST00000368300.9:c.1718C>T MANE Select | ENSP00000357283.4:p.Ser573Leu | |
| ENST00000496738.6:n.2921C>T | ||
| ENST00000674518.1:c.*1068C>T | ENSP00000502261.1:n.*1068C>T | |
| ENST00000674600.1:c.*1517C>T | ENSP00000501666.1:n.*1517C>T | |
| ENST00000674720.1:c.*1024C>T | ENSP00000502798.1:n.*1024C>T | |
| ENST00000675455.1:c.*1518C>T | ENSP00000501795.1:n.*1518C>T | |
| ENST00000675667.1:c.1718C>T | ENSP00000501803.1:p.Ser573Leu | |
| ENST00000675874.1:c.*1189C>T | ENSP00000501851.1:n.*1189C>T | |
| ENST00000675881.1:c.*729C>T | ENSP00000501670.1:n.*729C>T | |
| ENST00000675939.1:c.1718C>T | ENSP00000502256.1:p.Ser573Leu | |
| ENST00000675989.1:n.3321C>T | ||
| ENST00000676208.1:c.*821C>T | ENSP00000502468.1:n.*821C>T | |
| ENST00000676283.1:n.3258C>T | ||
| ENST00000676385.2:c.1628C>T | ENSP00000502091.1:p.Ser543Leu | |
| ENST00000676434.1:c.*1473C>T | ENSP00000501648.1:n.*1473C>T | |
| ENST00000347559.6:c.1628C>T | ENSP00000292304.3:p.Ser543Leu | |
| ENST00000368299.7:c.1718C>T | ENSP00000357282.3:p.Ser573Leu | |
| ENST00000368300.8:c.1718C>T | ENSP00000357283.4:p.Ser573Leu | |
| ENST00000448611.6:c.1382C>T | ENSP00000395597.2:p.Ser461Leu | |
| ENST00000473598.6:c.1421C>T | ENSP00000421821.1:p.Ser474Leu | |
| ENST00000496738.5:n.1931C>T | ||
| ENST00000506981.1:n.302C>T | ||
| ENST00000508500.1:c.506C>T | ENSP00000424977.1:p.Ser169Leu | |
| NM_001257374.2:c.1382C>T | NP_001244303.1:p.Ser461Leu | |
| NM_001282626.1:c.1718C>T | NP_001269555.1:p.Ser573Leu | |
| NM_170707.3:c.1718C>T | NP_733821.1:p.Ser573Leu | |
| NM_170708.3:c.1628C>T | NP_733822.1:p.Ser543Leu | |
| XM_011509533.1:c.1382C>T | XP_011507835.1:p.Ser461Leu | |
| XM_011509534.1:c.1094C>T | XP_011507836.1:p.Ser365Leu | |
| XR_921781.1:n.2007C>T | ||
| XM_011509534.2:c.1094C>T | XP_011507836.1:p.Ser365Leu | |
| XR_921781.2:n.2005C>T | ||
| NM_170707.4:c.1718C>T MANE Select | NP_733821.1:p.Ser573Leu | |
| NM_001257374.3:c.1382C>T | NP_001244303.1:p.Ser461Leu | |
| NM_001282626.2:c.1718C>T | NP_001269555.1:p.Ser573Leu | |
| NM_170708.4:c.1628C>T | NP_733822.1:p.Ser543Leu |