Linked Data
ClinVar Variation Id:
38217
ClinVar RCV Id:
RCV000031800
RCV000045733
RCV000131685
RCV000768640
RCV001086321
RCV003332091
RCV004532466
dbSNP Id:
rs80359171
ExAC:
13:32954181 G / A
gnomAD v2:
13-32954181-G-A
gnomAD v3:
13-32380044-G-A
gnomAD v4:
13-32380044-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380044G>A , CM000675.2:g.32380044G>A | GRCh38 |
| NC_000013.10:g.32954181G>A , CM000675.1:g.32954181G>A | GRCh37 |
| NC_000013.9:g.31852181G>A | NCBI36 |
| NG_012772.3:g.69565G>A , LRG_293:g.69565G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9155G>A | ENSP00000434898.2:p.Arg3052Gln | |
| ENST00000528762.2:c.*522G>A | ENSP00000433168.2:n.*522G>A | |
| ENST00000530893.7:c.8786G>A | ENSP00000499438.2:p.Arg2929Gln | |
| ENST00000665585.2:c.*717G>A | ENSP00000499570.2:n.*717G>A | |
| ENST00000666593.2:c.9155G>A | ENSP00000499256.2:p.Arg3052Gln | |
| ENST00000700202.2:c.9104G>A | ENSP00000514856.2:p.Arg3035Gln | |
| ENST00000700202.1:c.1571G>A | ENSP00000514856.1:p.Arg524Gln | |
| ENST00000700203.1:n.1282G>A | ||
| ENST00000380152.8:c.9155G>A MANE Select | ENSP00000369497.3:p.Arg3052Gln | |
| ENST00000544455.6:c.9155G>A | ENSP00000439902.1:p.Arg3052Gln | |
| ENST00000614259.2:c.9163G>A | ENSP00000506251.1:n.9163G>A | |
| ENST00000665585.1:c.2033G>A | ||
| ENST00000666593.1:c.38G>A | ENSP00000499256.1:p.Arg13Gln | |
| ENST00000680887.1:c.9155G>A | ENSP00000505508.1:p.Arg3052Gln | |
| ENST00000380152.7:c.9155G>A | ENSP00000369497.3:p.Arg3052Gln | |
| ENST00000470094.1:c.112G>A | ||
| ENST00000544455.5:c.9155G>A | ENSP00000439902.1:p.Arg3052Gln | |
| NM_000059.3:c.9155G>A , LRG_293t1:c.9155G>A | NP_000050.2:p.Arg3052Gln | |
| XM_011535203.1:c.9155G>A | XP_011533505.1:p.Arg3052Gln | |
| XM_011535204.1:c.9059G>A | XP_011533506.1:p.Arg3020Gln | |
| NM_000059.4:c.9155G>A MANE Select | NP_000050.3:p.Arg3052Gln |