Linked Data
ClinVar Variation Id:
66864
ClinVar RCV Id:
RCV000057354
RCV000618100
RCV000653858
RCV001182287
RCV002504960
RCV003333022
RCV003996507
dbSNP Id:
rs59601651
ExAC:
1:156108328 C / T
gnomAD v2:
1-156108328-C-T
gnomAD v3:
1-156138537-C-T
gnomAD v4:
1-156138537-C-T
COSMIC:
COSM4023188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138537C>T , CM000663.2:g.156138537C>T | GRCh38 |
| NC_000001.10:g.156108328C>T , CM000663.1:g.156108328C>T | GRCh37 |
| NC_000001.9:g.154374952C>T | NCBI36 |
| NG_008692.2:g.60965C>T , LRG_254:g.60965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1190C>T | ENSP00000426535.3:p.Ser397Leu | |
| ENST00000682650.1:c.1658C>T | ENSP00000506904.1:p.Ser553Leu | |
| ENST00000683032.1:c.1748C>T | ENSP00000506771.1:p.Ser583Leu | |
| ENST00000683773.1:n.93C>T | ||
| ENST00000684195.1:c.*840C>T | ENSP00000508220.1:n.*840C>T | |
| ENST00000361308.9:c.1748C>T | ENSP00000355292.6:p.Ser583Leu | |
| ENST00000368300.9:c.1748C>T MANE Select | ENSP00000357283.4:p.Ser583Leu | |
| ENST00000496738.6:n.2951C>T | ||
| ENST00000674518.1:c.*1098C>T | ENSP00000502261.1:n.*1098C>T | |
| ENST00000674600.1:c.*1547C>T | ENSP00000501666.1:n.*1547C>T | |
| ENST00000674720.1:c.*1054C>T | ENSP00000502798.1:n.*1054C>T | |
| ENST00000675455.1:c.*1548C>T | ENSP00000501795.1:n.*1548C>T | |
| ENST00000675667.1:c.1748C>T | ENSP00000501803.1:p.Ser583Leu | |
| ENST00000675874.1:c.*1219C>T | ENSP00000501851.1:n.*1219C>T | |
| ENST00000675881.1:c.*759C>T | ENSP00000501670.1:n.*759C>T | |
| ENST00000675939.1:c.1748C>T | ENSP00000502256.1:p.Ser583Leu | |
| ENST00000675989.1:n.3351C>T | ||
| ENST00000676208.1:c.*851C>T | ENSP00000502468.1:n.*851C>T | |
| ENST00000676283.1:n.3288C>T | ||
| ENST00000676385.2:c.1658C>T | ENSP00000502091.1:p.Ser553Leu | |
| ENST00000676434.1:c.*1503C>T | ENSP00000501648.1:n.*1503C>T | |
| ENST00000347559.6:c.1658C>T | ENSP00000292304.3:p.Ser553Leu | |
| ENST00000368299.7:c.1748C>T | ENSP00000357282.3:p.Ser583Leu | |
| ENST00000368300.8:c.1748C>T | ENSP00000357283.4:p.Ser583Leu | |
| ENST00000448611.6:c.1412C>T | ENSP00000395597.2:p.Ser471Leu | |
| ENST00000473598.6:c.1451C>T | ENSP00000421821.1:p.Ser484Leu | |
| ENST00000496738.5:n.1961C>T | ||
| ENST00000506981.1:n.332C>T | ||
| ENST00000508500.1:c.536C>T | ENSP00000424977.1:p.Ser179Leu | |
| NM_001257374.2:c.1412C>T | NP_001244303.1:p.Ser471Leu | |
| NM_001282626.1:c.1748C>T | NP_001269555.1:p.Ser583Leu | |
| NM_170707.3:c.1748C>T | NP_733821.1:p.Ser583Leu | |
| NM_170708.3:c.1658C>T | NP_733822.1:p.Ser553Leu | |
| XM_011509533.1:c.1412C>T | XP_011507835.1:p.Ser471Leu | |
| XM_011509534.1:c.1124C>T | XP_011507836.1:p.Ser375Leu | |
| XR_921781.1:n.2037C>T | ||
| XM_011509534.2:c.1124C>T | XP_011507836.1:p.Ser375Leu | |
| XR_921781.2:n.2035C>T | ||
| NM_170707.4:c.1748C>T MANE Select | NP_733821.1:p.Ser583Leu | |
| NM_001257374.3:c.1412C>T | NP_001244303.1:p.Ser471Leu | |
| NM_001282626.2:c.1748C>T | NP_001269555.1:p.Ser583Leu | |
| NM_170708.4:c.1658C>T | NP_733822.1:p.Ser553Leu |