Linked Data
ClinVar Variation Id:
553299
ClinVar RCV Id:
RCV000668713
dbSNP Id:
rs561887984
ExAC:
1:179544915 C / T
gnomAD v2:
1-179544915-C-T
gnomAD v3:
1-179575780-C-T
gnomAD v4:
1-179575780-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575780C>T , CM000663.2:g.179575780C>T | GRCh38 |
| NC_000001.10:g.179544915C>T , CM000663.1:g.179544915C>T | GRCh37 |
| NC_000001.9:g.177811538C>T | NCBI36 |
| NG_007535.1:g.5170G>A , LRG_887:g.5170G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367615.9:c.85G>A MANE Select | ENSP00000356587.4:p.Ala29Thr | |
| ENST00000367615.8:c.85G>A | ENSP00000356587.4:p.Ala29Thr | |
| ENST00000367616.4:c.85G>A | ENSP00000356588.4:p.Ala29Thr | |
| NM_001297575.1:c.85G>A | NP_001284504.1:p.Ala29Thr | |
| NM_014625.3:c.85G>A , LRG_887t1:c.85G>A | NP_055440.1:p.Ala29Thr | |
| XM_005245483.2:c.85G>A | XP_005245540.1:p.Ala29Thr | |
| XM_006711529.2:c.85G>A | XP_006711592.1:p.Ala29Thr | |
| XM_005245483.3:c.85G>A | XP_005245540.1:p.Ala29Thr | |
| XM_017002298.1:c.85G>A | XP_016857787.1:p.Ala29Thr | |
| XM_017002299.1:c.85G>A | XP_016857788.1:p.Ala29Thr | |
| NM_001297575.2:c.85G>A | NP_001284504.1:p.Ala29Thr | |
| NM_014625.4:c.85G>A MANE Select | NP_055440.1:p.Ala29Thr |