Linked Data
dbSNP Id:
rs201427723
ExAC:
12:7945591 C / A
gnomAD v2:
12-7945591-C-A
gnomAD v3:
12-7792995-C-A
gnomAD v4:
12-7792995-C-A
COSMIC:
COSM1992864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7792995C>A , CM000674.2:g.7792995C>A | GRCh38 |
| NC_000012.11:g.7945591C>A , CM000674.1:g.7945591C>A | GRCh37 |
| NC_000012.10:g.7836858C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.197C>A MANE Select | ENSP00000229307.4:p.Pro66His | |
| ENST00000229307.8:c.197C>A | ENSP00000229307.4:p.Pro66His | |
| ENST00000526286.1:c.197C>A | ENSP00000435288.1:p.Pro66His | |
| ENST00000526434.2:n.341C>A | ||
| ENST00000541267.5:c.125C>A | ENSP00000444434.1:p.Pro42His | |
| NM_001297698.1:c.197C>A | NP_001284627.1:p.Pro66His | |
| NM_024865.3:c.197C>A | NP_079141.2:p.Pro66His | |
| XM_011520850.1:c.197C>A | XP_011519152.1:p.Pro66His | |
| XM_011520851.1:c.125C>A | XP_011519153.1:p.Pro42His | |
| XM_011520852.1:c.-176C>A | XP_011519154.1:n.-176C>A | |
| NM_024865.4:c.197C>A MANE Select | NP_079141.2:p.Pro66His | |
| NM_001297698.2:c.197C>A | NP_001284627.1:p.Pro66His |