Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485237C= , CM000668.2:g.143485237C= | GRCh38 |
| NC_000006.11:g.143806374C= , CM000668.1:g.143806374C= | GRCh37 |
| NC_000006.10:g.143848067C= | NCBI36 |
| NG_008459.1:g.39457C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1027C= MANE Select | ENSP00000356563.4:p.His343= | |
| ENST00000367591.4:c.1027C= | ENSP00000356563.4:p.His343= | |
| ENST00000585848.1:n.166C= | ||
| NM_003630.2:c.1027C= | NP_003621.1:p.His343= | |
| NM_003630.3:c.1027C= MANE Select | NP_003621.1:p.His343= |