Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213571A>C , CM000667.2:g.1213571A>C | GRCh38 |
| NC_000005.9:g.1213686A>C , CM000667.1:g.1213686A>C | GRCh37 |
| NC_000005.8:g.1266686A>C | NCBI36 |
| NG_008282.1:g.16977A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.772A>C MANE Select | ENSP00000305302.10:p.Asn258His | |
| ENST00000304460.10:c.772A>C | ENSP00000305302.10:p.Asn258His | |
| ENST00000515652.5:c.680A>C | ENSP00000425701.1:p.Gln227Pro | |
| NM_001003841.2:c.772A>C | NP_001003841.1:p.Asn258His | |
| NM_001003841.3:c.772A>C MANE Select | NP_001003841.1:p.Asn258His |