Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184915673C= , CM000664.2:g.184915673C= | GRCh38 |
| NC_000002.11:g.185780400C= , CM000664.1:g.185780400C= | GRCh37 |
| NC_000002.10:g.185488645C= | NCBI36 |
| NG_046950.1:g.322308C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.256-17930C= MANE Select | ENSP00000303252.6:n.256-17930C= | |
| ENST00000302277.6:c.256-17930C= | ENSP00000303252.6:n.256-17930C= | |
| ENST00000613975.1:c.1-17930C= | ENSP00000483032.1:n.1-17930C= | |
| NM_194250.1:c.256-17930C= | NP_919226.1:n.256-17930C= | |
| NM_194250.2:c.256-17930C= MANE Select | NP_919226.1:n.256-17930C= |