Linked Data
ClinVar Variation Id:
2689434
ClinVar RCV Id:
RCV003486153
dbSNP Id:
rs1323856934
gnomAD v2:
1-45966056-C-T
gnomAD v4:
1-45500384-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500384C>T , CM000663.2:g.45500384C>T | GRCh38 |
| NC_000001.10:g.45966056C>T , CM000663.1:g.45966056C>T | GRCh37 |
| NC_000001.9:g.45738643C>T | NCBI36 |
| NG_013378.1:g.5201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.52C>T MANE Select | ENSP00000383840.4:p.Pro18Ser | |
| ENST00000401061.8:c.52C>T | ENSP00000383840.4:p.Pro18Ser | |
| ENST00000616135.1:c.-120C>T | ENSP00000478859.1:n.-120C>T | |
| NM_015506.2:c.52C>T | NP_056321.2:p.Pro18Ser | |
| XM_005270724.3:c.52C>T | XP_005270781.1:p.Pro18Ser | |
| XM_011541204.1:c.-171C>T | XP_011539506.1:n.-171C>T | |
| NM_001330540.1:c.-171C>T | NP_001317469.1:n.-171C>T | |
| XM_005270724.5:c.52C>T | XP_005270781.1:p.Pro18Ser | |
| NM_015506.3:c.52C>T MANE Select | NP_056321.2:p.Pro18Ser | |
| NM_001330540.2:c.-171C>T | NP_001317469.1:n.-171C>T |