Linked Data
dbSNP Id:
rs147102529
ExAC:
5:148206928 C / A
gnomAD v2:
5-148206928-C-A
gnomAD v3:
5-148827365-C-A
gnomAD v4:
5-148827365-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827365C>A , CM000667.2:g.148827365C>A | GRCh38 |
| NC_000005.9:g.148206928C>A , CM000667.1:g.148206928C>A | GRCh37 |
| NC_000005.8:g.148187121C>A | NCBI36 |
| NG_016421.1:g.5773C>A | |
| NG_016421.2:g.5773C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.534C>A MANE Select | ENSP00000305372.4:p.His178Gln | |
| ENST00000305988.5:c.534C>A | ENSP00000305372.4:p.His178Gln | |
| NM_000024.5:c.534C>A | NP_000015.1:p.His178Gln | |
| NM_000024.6:c.534C>A MANE Select | NP_000015.2:p.His178Gln |