Linked Data
dbSNP Id:
rs777898827
ExAC:
6:87725541 C / A
gnomAD v2:
6-87725541-C-A
gnomAD v4:
6-87015823-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87015823C>A , CM000668.2:g.87015823C>A | GRCh38 |
| NC_000006.11:g.87725541C>A , CM000668.1:g.87725541C>A | GRCh37 |
| NC_000006.10:g.87782260C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305344.7:c.489C>A MANE Select | ENSP00000307766.4:p.His163Gln | |
| ENST00000305344.6:c.489C>A | ENSP00000307766.4:p.His163Gln | |
| NM_000865.2:c.489C>A | NP_000856.1:p.His163Gln | |
| XM_011535789.1:c.489C>A | XP_011534091.1:p.His163Gln | |
| XM_011535790.1:c.489C>A | XP_011534092.1:p.His163Gln | |
| XM_011535789.2:c.489C>A | XP_011534091.1:p.His163Gln | |
| NM_000865.3:c.489C>A MANE Select | NP_000856.1:p.His163Gln |