Linked Data
ClinVar Variation Id:
2855469
ClinVar RCV Id:
RCV003701402
gnomAD v4:
1-179575619-C-A
MyVariant Identifiers:
chr1:g.179544754C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575619C>A , CM000663.2:g.179575619C>A | GRCh38 |
| NC_000001.10:g.179544754C>A , CM000663.1:g.179544754C>A | GRCh37 |
| NC_000001.9:g.177811377C>A | NCBI36 |
| NG_007535.1:g.5331G>T , LRG_887:g.5331G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.246G>T MANE Select | ENSP00000356587.4:p.Ala82= | |
| ENST00000367615.8:c.246G>T | ENSP00000356587.4:p.Ala82= | |
| ENST00000367616.4:c.246G>T | ENSP00000356588.4:p.Ala82= | |
| NM_001297575.1:c.246G>T | NP_001284504.1:p.Ala82= | |
| NM_014625.3:c.246G>T , LRG_887t1:c.246G>T | NP_055440.1:p.Ala82= | |
| XM_005245483.2:c.246G>T | XP_005245540.1:p.Ala82= | |
| XM_006711529.2:c.246G>T | XP_006711592.1:p.Ala82= | |
| XM_005245483.3:c.246G>T | XP_005245540.1:p.Ala82= | |
| XM_017002298.1:c.246G>T | XP_016857787.1:p.Ala82= | |
| XM_017002299.1:c.246G>T | XP_016857788.1:p.Ala82= | |
| NM_001297575.2:c.246G>T | NP_001284504.1:p.Ala82= | |
| NM_014625.4:c.246G>T MANE Select | NP_055440.1:p.Ala82= |