Linked Data
ClinVar Variation Id:
297586
ClinVar RCV Id:
RCV000341764
dbSNP Id:
rs753124340
ExAC:
1:52861904 G / T
gnomAD v2:
1-52861904-G-T
gnomAD v4:
1-52396232-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52396232G>T , CM000663.2:g.52396232G>T | GRCh38 |
| NC_000001.10:g.52861904G>T , CM000663.1:g.52861904G>T | GRCh37 |
| NC_000001.9:g.52634492G>T | NCBI36 |
| NG_028251.1:g.13240C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371568.8:c.535C>A MANE Select | ENSP00000360623.3:p.Pro179Thr | |
| ENST00000371566.1:c.535C>A | ENSP00000360621.1:p.Pro179Thr | |
| ENST00000371568.7:c.535C>A | ENSP00000360623.3:p.Pro179Thr | |
| NM_001190818.1:c.535C>A | NP_001177747.1:p.Pro179Thr | |
| NM_001190819.1:c.535C>A | NP_001177748.1:p.Pro179Thr | |
| NM_004153.3:c.535C>A | NP_004144.2:p.Pro179Thr | |
| XM_011541527.3:c.-603C>A | XP_011539829.1:n.-603C>A | |
| XM_017001388.2:c.535C>A | XP_016856877.1:p.Pro179Thr | |
| XM_017001389.2:c.-266C>A | XP_016856878.1:n.-266C>A | |
| NM_004153.4:c.535C>A MANE Select | NP_004144.2:p.Pro179Thr | |
| NM_001190818.2:c.535C>A | NP_001177747.1:p.Pro179Thr | |
| NM_001190819.2:c.535C>A | NP_001177748.1:p.Pro179Thr |