Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827422A>T , CM000667.2:g.148827422A>T | GRCh38 |
| NC_000005.9:g.148206985A>T , CM000667.1:g.148206985A>T | GRCh37 |
| NC_000005.8:g.148187178A>T | NCBI36 |
| NG_016421.1:g.5830A>T | |
| NG_016421.2:g.5830A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.591A>T MANE Select | ENSP00000305372.4:p.Gln197His | |
| ENST00000305988.5:c.591A>T | ENSP00000305372.4:p.Gln197His | |
| NM_000024.5:c.591A>T | NP_000015.1:p.Gln197His | |
| NM_000024.6:c.591A>T MANE Select | NP_000015.2:p.Gln197His |