Linked Data
ClinVar Variation Id:
50206
ClinVar RCV Id:
RCV000043468
dbSNP Id:
rs398122935
gnomAD v2:
3-148459073-G-A
gnomAD v4:
3-148741286-G-A
PubMed:
PMID:22095942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148741286G>A , CM000665.2:g.148741286G>A | GRCh38 |
| NC_000003.11:g.148459073G>A , CM000665.1:g.148459073G>A | GRCh37 |
| NC_000003.10:g.149941763G>A | NCBI36 |
| NG_008468.1:g.48416G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349243.8:c.251G>A MANE Select | ENSP00000273430.3:p.Trp84Ter | |
| ENST00000402260.2:c.251G>A | ENSP00000385641.3:p.Trp84Ter | |
| ENST00000418473.7:c.251G>A | ENSP00000398832.4:p.Trp84Ter | |
| ENST00000349243.7:c.251G>A | ENSP00000273430.3:p.Trp84Ter | |
| ENST00000402260.1:c.338G>A | ENSP00000385641.2:p.Trp113Ter | |
| ENST00000404754.2:c.251G>A | ENSP00000385612.2:p.Trp84Ter | |
| ENST00000418473.6:c.356G>A | ENSP00000398832.3:p.Trp119Ter | |
| ENST00000461609.1:c.251G>A | ENSP00000418851.1:p.Trp84Ter | |
| ENST00000474935.5:c.251G>A | ENSP00000418084.1:p.Trp84Ter | |
| ENST00000475347.5:c.251G>A | ENSP00000419783.1:p.Trp84Ter | |
| ENST00000497524.5:c.251G>A | ENSP00000419422.1:p.Trp84Ter | |
| NM_000685.4:c.251G>A | NP_000676.1:p.Trp84Ter | |
| NM_004835.4:c.356G>A | NP_004826.5:p.Trp119Ter | |
| NM_009585.3:c.251G>A | NP_033611.1:p.Trp84Ter | |
| NM_031850.3:c.356G>A | NP_114038.4:p.Trp119Ter | |
| NM_032049.3:c.338G>A | NP_114438.2:p.Trp113Ter | |
| NM_000685.5:c.251G>A MANE Select | NP_000676.1:p.Trp84Ter | |
| NM_001382736.1:c.251G>A | NP_001369665.1:p.Trp84Ter | |
| NM_001382737.1:c.251G>A | NP_001369666.1:p.Trp84Ter | |
| NM_004835.5:c.251G>A | NP_004826.6:p.Trp84Ter | |
| NM_009585.4:c.251G>A | NP_033611.1:p.Trp84Ter | |
| NM_031850.4:c.251G>A | NP_114038.5:p.Trp84Ter | |
| NM_032049.4:c.251G>A | NP_114438.3:p.Trp84Ter |