Linked Data
dbSNP Id:
rs371004372
ExAC:
1:45966057 C / A
gnomAD v2:
1-45966057-C-A
gnomAD v4:
1-45500385-C-A
COSMIC:
COSM3419277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500385C>A , CM000663.2:g.45500385C>A | GRCh38 |
| NC_000001.10:g.45966057C>A , CM000663.1:g.45966057C>A | GRCh37 |
| NC_000001.9:g.45738644C>A | NCBI36 |
| NG_013378.1:g.5202C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.53C>A MANE Select | ENSP00000383840.4:p.Pro18His | |
| ENST00000401061.8:c.53C>A | ENSP00000383840.4:p.Pro18His | |
| ENST00000616135.1:c.-119C>A | ENSP00000478859.1:n.-119C>A | |
| NM_015506.2:c.53C>A | NP_056321.2:p.Pro18His | |
| XM_005270724.3:c.53C>A | XP_005270781.1:p.Pro18His | |
| XM_011541204.1:c.-170C>A | XP_011539506.1:n.-170C>A | |
| NM_001330540.1:c.-170C>A | NP_001317469.1:n.-170C>A | |
| XM_005270724.5:c.53C>A | XP_005270781.1:p.Pro18His | |
| NM_015506.3:c.53C>A MANE Select | NP_056321.2:p.Pro18His | |
| NM_001330540.2:c.-170C>A | NP_001317469.1:n.-170C>A |