Linked Data
ClinVar Variation Id:
52692
ClinVar RCV Id:
RCV000045642
RCV000114008
RCV000162603
RCV000120366
RCV000679194
RCV001170977
RCV004528254
RCV001112820
dbSNP Id:
rs28897754
ExAC:
13:32953549 G / T
gnomAD v2:
13-32953549-G-T
gnomAD v3:
13-32379412-G-T
gnomAD v4:
13-32379412-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379412G>T , CM000675.2:g.32379412G>T | GRCh38 |
| NC_000013.10:g.32953549G>T , CM000675.1:g.32953549G>T | GRCh37 |
| NC_000013.9:g.31851549G>T | NCBI36 |
| NG_012772.3:g.68933G>T , LRG_293:g.68933G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8850G>T | ENSP00000434898.2:p.Lys2950Asn | |
| ENST00000528762.2:c.*217G>T | ENSP00000433168.2:n.*217G>T | |
| ENST00000530893.7:c.8481G>T | ENSP00000499438.2:p.Lys2827Asn | |
| ENST00000665585.2:c.*412G>T | ENSP00000499570.2:n.*412G>T | |
| ENST00000666593.2:c.8850G>T | ENSP00000499256.2:p.Lys2950Asn | |
| ENST00000700202.2:c.8850G>T | ENSP00000514856.2:p.Lys2950Asn | |
| ENST00000700202.1:c.1317G>T | ENSP00000514856.1:p.Lys439Asn | |
| ENST00000700203.1:n.977G>T | ||
| ENST00000380152.8:c.8850G>T MANE Select | ENSP00000369497.3:p.Lys2950Asn | |
| ENST00000544455.6:c.8850G>T | ENSP00000439902.1:p.Lys2950Asn | |
| ENST00000614259.2:c.8858G>T | ENSP00000506251.1:n.8858G>T | |
| ENST00000665585.1:c.1728G>T | ||
| ENST00000680887.1:c.8850G>T | ENSP00000505508.1:p.Lys2950Asn | |
| ENST00000380152.7:c.8850G>T | ENSP00000369497.3:p.Lys2950Asn | |
| ENST00000528762.1:c.412G>T | ENSP00000433168.1:n.412G>T | |
| ENST00000544455.5:c.8850G>T | ENSP00000439902.1:p.Lys2950Asn | |
| NM_000059.3:c.8850G>T , LRG_293t1:c.8850G>T | NP_000050.2:p.Lys2950Asn | |
| XM_011535203.1:c.8850G>T | XP_011533505.1:p.Lys2950Asn | |
| XM_011535204.1:c.8754G>T | XP_011533506.1:p.Lys2918Asn | |
| XM_011535205.1:c.8755-338G>T | XP_011533507.1:n.8755-338G>T | |
| NM_000059.4:c.8850G>T MANE Select | NP_000050.3:p.Lys2950Asn |