Linked Data
ClinVar Variation Id:
283403
dbSNP Id:
rs757767434
ExAC:
7:157175021 C / T
gnomAD v2:
7-157175021-C-T
gnomAD v3:
7-157382327-C-T
gnomAD v4:
7-157382327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157382327C>T , CM000669.2:g.157382327C>T | GRCh38 |
| NC_000007.13:g.157175021C>T , CM000669.1:g.157175021C>T | GRCh37 |
| NC_000007.12:g.156867782C>T | NCBI36 |
| NG_032573.1:g.50312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.428C>T MANE Select | ENSP00000262177.4:p.Ala143Val | |
| ENST00000262177.8:c.428C>T | ENSP00000262177.4:p.Ala143Val | |
| ENST00000417758.5:c.428C>T | ENSP00000400665.1:p.Ala143Val | |
| ENST00000429029.6:c.428C>T | ENSP00000397556.2:p.Ala143Val | |
| ENST00000441561.5:c.428C>T | ENSP00000410643.1:p.Ala143Val | |
| ENST00000443280.5:c.346+14844C>T | ENSP00000396267.1:n.346+14844C>T | |
| ENST00000459889.5:c.428C>T | ENSP00000488263.1:p.Ala143Val | |
| ENST00000465908.5:n.224C>T | ||
| ENST00000468928.5:n.733C>T | ||
| ENST00000486247.1:n.248C>T | ||
| ENST00000487480.1:n.4203C>T | ||
| ENST00000634080.1:c.428C>T | ENSP00000488740.1:p.Ala143Val | |
| NM_005494.2:c.428C>T | NP_005485.1:p.Ala143Val | |
| NM_058246.3:c.428C>T | NP_490647.1:p.Ala143Val | |
| XM_005249515.2:c.428C>T | XP_005249572.1:p.Ala143Val | |
| XM_005249516.2:c.428C>T | XP_005249573.1:p.Ala143Val | |
| XM_006715823.1:c.428C>T | XP_006715886.1:p.Ala143Val | |
| XM_011515704.1:c.428C>T | XP_011514006.1:p.Ala143Val | |
| NM_001363676.1:c.346+14844C>T | NP_001350605.1:n.346+14844C>T | |
| XM_005249515.3:c.428C>T | XP_005249572.1:p.Ala143Val | |
| XM_006715823.2:c.428C>T | XP_006715886.1:p.Ala143Val | |
| NM_058246.4:c.428C>T MANE Select | NP_490647.1:p.Ala143Val | |
| NM_005494.3:c.428C>T | NP_005485.1:p.Ala143Val |