Linked Data
ClinVar Variation Id:
750850
ClinVar RCV Id:
RCV000927861
dbSNP Id:
rs1572286119
gnomAD v4:
1-179564717-G-A
MyVariant Identifiers:
chr1:g.179533852G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179564717G>A , CM000663.2:g.179564717G>A | GRCh38 |
| NC_000001.10:g.179533852G>A , CM000663.1:g.179533852G>A | GRCh37 |
| NC_000001.9:g.177800475G>A | NCBI36 |
| NG_007535.1:g.16233C>T , LRG_887:g.16233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.351C>T MANE Select | ENSP00000356587.4:p.Phe117= | |
| ENST00000367615.8:c.351C>T | ENSP00000356587.4:p.Phe117= | |
| ENST00000367616.4:c.351C>T | ENSP00000356588.4:p.Phe117= | |
| NM_001297575.1:c.351C>T | NP_001284504.1:p.Phe117= | |
| NM_014625.3:c.351C>T , LRG_887t1:c.351C>T | NP_055440.1:p.Phe117= | |
| XM_005245483.2:c.275-4956C>T | XP_005245540.1:n.275-4956C>T | |
| XM_006711529.2:c.351C>T | XP_006711592.1:p.Phe117= | |
| XM_005245483.3:c.275-4956C>T | XP_005245540.1:n.275-4956C>T | |
| XM_017002298.1:c.351C>T | XP_016857787.1:p.Phe117= | |
| XM_017002299.1:c.351C>T | XP_016857788.1:p.Phe117= | |
| NM_001297575.2:c.351C>T | NP_001284504.1:p.Phe117= | |
| NM_014625.4:c.351C>T MANE Select | NP_055440.1:p.Phe117= |