Linked Data
ClinVar Variation Id:
126528
dbSNP Id:
rs587777293
ExAC:
3:119187879 G / A
gnomAD v2:
3-119187879-G-A
gnomAD v3:
3-119469032-G-A
gnomAD v4:
3-119469032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119469032G>A , CM000665.2:g.119469032G>A | GRCh38 |
| NC_000003.11:g.119187879G>A , CM000665.1:g.119187879G>A | GRCh37 |
| NC_000003.10:g.120670569G>A | NCBI36 |
| NG_034115.1:g.5095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295588.9:c.11G>A MANE Select | ENSP00000295588.4:p.Trp4Ter | |
| ENST00000647766.1:c.11G>A | ENSP00000498165.1:p.Trp4Ter | |
| ENST00000295588.8:c.11G>A | ENSP00000295588.4:p.Trp4Ter | |
| ENST00000390401.2:n.58G>A | ||
| ENST00000460339.1:c.11G>A | ENSP00000420594.1:p.Trp4Ter | |
| ENST00000476573.5:c.44+26G>A | ||
| ENST00000486607.5:c.11G>A | ENSP00000419876.1:p.Trp4Ter | |
| ENST00000497447.5:c.11G>A | ENSP00000419288.1:p.Trp4Ter | |
| NM_152305.2:c.11G>A | NP_689518.1:p.Trp4Ter | |
| NR_024265.1:n.95G>A | ||
| XM_011512997.1:c.11G>A | XP_011511299.1:p.Trp4Ter | |
| XM_017006878.2:c.-751G>A | XP_016862367.1:n.-751G>A | |
| XM_017006879.1:c.-782G>A | XP_016862368.1:n.-782G>A | |
| XM_024453643.1:c.-1665G>A | XP_024309411.1:n.-1665G>A | |
| XR_001740211.2:n.70G>A | ||
| XR_001740212.2:n.70G>A | ||
| NM_152305.3:c.11G>A MANE Select | NP_689518.1:p.Trp4Ter | |
| NR_024265.2:n.70G>A |