Linked Data
ClinVar Variation Id:
252656
dbSNP Id:
rs372783392
ExAC:
4:6279351 G / A
gnomAD v2:
4-6279351-G-A
gnomAD v3:
4-6277624-G-A
gnomAD v4:
4-6277624-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6277624G>A , CM000666.2:g.6277624G>A | GRCh38 |
| NC_000004.11:g.6279351G>A , CM000666.1:g.6279351G>A | GRCh37 |
| NC_000004.10:g.6330252G>A | NCBI36 |
| NG_011700.1:g.12775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506588.6:n.339G>A | ||
| ENST00000682059.1:c.169G>A | ENSP00000507988.1:p.Ala57Thr | |
| ENST00000682275.1:c.169G>A | ENSP00000507852.1:p.Ala57Thr | |
| ENST00000683395.1:c.159G>A | ||
| ENST00000684054.1:c.169G>A | ENSP00000507120.1:p.Ala57Thr | |
| ENST00000684087.1:c.169G>A | ENSP00000506978.1:p.Ala57Thr | |
| ENST00000684700.1:c.169G>A | ENSP00000507806.1:p.Ala57Thr | |
| ENST00000506362.2:c.-18+7610G>A | ENSP00000424103.2:n.-18+7610G>A | |
| ENST00000673991.1:c.169G>A | ENSP00000501033.1:p.Ala57Thr | |
| ENST00000674051.1:c.67-24G>A | ENSP00000501083.1:n.67-24G>A | |
| ENST00000226760.5:c.169G>A MANE Select | ENSP00000226760.1:p.Ala57Thr | |
| ENST00000503569.5:c.169G>A | ENSP00000423337.1:p.Ala57Thr | |
| ENST00000506588.5:n.339G>A | ||
| NM_001145853.1:c.169G>A | NP_001139325.1:p.Ala57Thr | |
| NM_006005.3:c.169G>A MANE Select | NP_005996.2:p.Ala57Thr | |
| XM_017008586.1:c.178G>A | XP_016864075.1:p.Ala60Thr |