Linked Data
ClinVar Variation Id:
51049
ClinVar RCV Id:
RCV000043720
RCV000112844
RCV000438903
RCV000565885
RCV000677846
RCV001719790
RCV002250507
RCV003162361
dbSNP Id:
rs397507568
ExAC:
13:32972800 C / T
gnomAD v2:
13-32972800-C-T
gnomAD v3:
13-32398663-C-T
gnomAD v4:
13-32398663-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398663C>T , CM000675.2:g.32398663C>T | GRCh38 |
| NC_000013.10:g.32972800C>T , CM000675.1:g.32972800C>T | GRCh37 |
| NC_000013.9:g.31870800C>T | NCBI36 |
| NG_012772.3:g.88184C>T , LRG_293:g.88184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*673C>T | ENSP00000434898.2:n.*673C>T | |
| ENST00000528762.2:c.*1517C>T | ENSP00000433168.2:n.*1517C>T | |
| ENST00000530893.7:c.9781C>T | ENSP00000499438.2:p.Arg3261Ter | |
| ENST00000665585.2:c.*1712C>T | ENSP00000499570.2:n.*1712C>T | |
| ENST00000700202.2:c.10099C>T | ENSP00000514856.2:p.Arg3367Ter | |
| ENST00000700202.1:c.2566C>T | ENSP00000514856.1:p.Arg856Ter | |
| ENST00000700203.1:n.2277C>T | ||
| ENST00000380152.8:c.10150C>T MANE Select | ENSP00000369497.3:p.Arg3384Ter | |
| ENST00000544455.6:c.10150C>T | ENSP00000439902.1:p.Arg3384Ter | |
| ENST00000614259.2:c.10158C>T | ENSP00000506251.1:n.10158C>T | |
| ENST00000680887.1:c.10150C>T | ENSP00000505508.1:p.Arg3384Ter | |
| ENST00000380152.7:c.10150C>T | ENSP00000369497.3:p.Arg3384Ter | |
| ENST00000544455.5:c.10150C>T | ENSP00000439902.1:p.Arg3384Ter | |
| NM_000059.3:c.10150C>T , LRG_293t1:c.10150C>T | NP_000050.2:p.Arg3384Ter | |
| XM_011535203.1:c.10150C>T | XP_011533505.1:p.Arg3384Ter | |
| XM_011535204.1:c.10054C>T | XP_011533506.1:p.Arg3352Ter | |
| NM_000059.4:c.10150C>T MANE Select | NP_000050.3:p.Arg3384Ter |