Linked Data
ClinVar Variation Id:
141807
ClinVar RCV Id:
RCV000130462
RCV000233879
RCV000356690
RCV000409083
RCV000780004
RCV001775622
RCV004532561
dbSNP Id:
rs373227180
gnomAD v2:
13-32953524-C-T
gnomAD v3:
13-32379387-C-T
gnomAD v4:
13-32379387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379387C>T , CM000675.2:g.32379387C>T | GRCh38 |
| NC_000013.10:g.32953524C>T , CM000675.1:g.32953524C>T | GRCh37 |
| NC_000013.9:g.31851524C>T | NCBI36 |
| NG_012772.3:g.68908C>T , LRG_293:g.68908C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8825C>T | ENSP00000434898.2:p.Ala2942Val | |
| ENST00000528762.2:c.*192C>T | ENSP00000433168.2:n.*192C>T | |
| ENST00000530893.7:c.8456C>T | ENSP00000499438.2:p.Ala2819Val | |
| ENST00000665585.2:c.*387C>T | ENSP00000499570.2:n.*387C>T | |
| ENST00000666593.2:c.8825C>T | ENSP00000499256.2:p.Ala2942Val | |
| ENST00000700202.2:c.8825C>T | ENSP00000514856.2:p.Ala2942Val | |
| ENST00000700202.1:c.1292C>T | ENSP00000514856.1:p.Ala431Val | |
| ENST00000700203.1:n.952C>T | ||
| ENST00000380152.8:c.8825C>T MANE Select | ENSP00000369497.3:p.Ala2942Val | |
| ENST00000544455.6:c.8825C>T | ENSP00000439902.1:p.Ala2942Val | |
| ENST00000614259.2:c.8833C>T | ENSP00000506251.1:n.8833C>T | |
| ENST00000665585.1:c.1703C>T | ||
| ENST00000680887.1:c.8825C>T | ENSP00000505508.1:p.Ala2942Val | |
| ENST00000380152.7:c.8825C>T | ENSP00000369497.3:p.Ala2942Val | |
| ENST00000528762.1:c.387C>T | ENSP00000433168.1:n.387C>T | |
| ENST00000544455.5:c.8825C>T | ENSP00000439902.1:p.Ala2942Val | |
| NM_000059.3:c.8825C>T , LRG_293t1:c.8825C>T | NP_000050.2:p.Ala2942Val | |
| XM_011535203.1:c.8825C>T | XP_011533505.1:p.Ala2942Val | |
| XM_011535204.1:c.8729C>T | XP_011533506.1:p.Ala2910Val | |
| XM_011535205.1:c.8755-363C>T | XP_011533507.1:n.8755-363C>T | |
| NM_000059.4:c.8825C>T MANE Select | NP_000050.3:p.Ala2942Val |