Linked Data
ClinVar Variation Id:
38235
ClinVar RCV Id:
RCV000031818
RCV000131047
RCV000485069
RCV000781092
RCV001355462
RCV001798058
RCV003473232
dbSNP Id:
rs80359211
gnomAD v4:
13-32394812-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394812G>A , CM000675.2:g.32394812G>A | GRCh38 |
| NC_000013.10:g.32968949G>A , CM000675.1:g.32968949G>A | GRCh37 |
| NC_000013.9:g.31866949G>A | NCBI36 |
| NG_012772.3:g.84333G>A , LRG_293:g.84333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9380G>A | ENSP00000434898.2:p.Trp3127Ter | |
| ENST00000528762.2:c.*747G>A | ENSP00000433168.2:n.*747G>A | |
| ENST00000530893.7:c.9011G>A | ENSP00000499438.2:p.Trp3004Ter | |
| ENST00000665585.2:c.*942G>A | ENSP00000499570.2:n.*942G>A | |
| ENST00000666593.2:c.*225G>A | ENSP00000499256.2:n.*225G>A | |
| ENST00000700202.2:c.9329G>A | ENSP00000514856.2:p.Trp3110Ter | |
| ENST00000700202.1:c.1796G>A | ENSP00000514856.1:p.Trp599Ter | |
| ENST00000700203.1:n.1507G>A | ||
| ENST00000380152.8:c.9380G>A MANE Select | ENSP00000369497.3:p.Trp3127Ter | |
| ENST00000544455.6:c.9380G>A | ENSP00000439902.1:p.Trp3127Ter | |
| ENST00000614259.2:c.9388G>A | ENSP00000506251.1:n.9388G>A | |
| ENST00000665585.1:c.2258G>A | ||
| ENST00000666593.1:c.402G>A | ENSP00000499256.1:n.402G>A | |
| ENST00000680887.1:c.9380G>A | ENSP00000505508.1:p.Trp3127Ter | |
| ENST00000380152.7:c.9380G>A | ENSP00000369497.3:p.Trp3127Ter | |
| ENST00000470094.1:c.337G>A | ||
| ENST00000544455.5:c.9380G>A | ENSP00000439902.1:p.Trp3127Ter | |
| NM_000059.3:c.9380G>A , LRG_293t1:c.9380G>A | NP_000050.2:p.Trp3127Ter | |
| XM_011535203.1:c.9380G>A | XP_011533505.1:p.Trp3127Ter | |
| XM_011535204.1:c.9284G>A | XP_011533506.1:p.Trp3095Ter | |
| NM_000059.4:c.9380G>A MANE Select | NP_000050.3:p.Trp3127Ter |