Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767643G>C , CM000676.2:g.28767643G>C | GRCh38 |
| NC_000014.8:g.29236849G>C , CM000676.1:g.29236849G>C | GRCh37 |
| NC_000014.7:g.28306600G>C | NCBI36 |
| NG_009367.1:g.5563G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.364G>C | ENSP00000516406.1:p.Asp122His | |
| ENST00000313071.7:c.364G>C MANE Select | ENSP00000339004.3:p.Asp122His | |
| ENST00000313071.6:c.364G>C | ENSP00000339004.3:p.Asp122His | |
| NM_005249.4:c.364G>C | NP_005240.3:p.Asp122His | |
| NM_005249.5:c.364G>C MANE Select | NP_005240.3:p.Asp122His |