Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353411C= , CM000674.2:g.69353411C= | GRCh38 |
| NC_000012.11:g.69747191C= , CM000674.1:g.69747191C= | GRCh37 |
| NC_000012.10:g.68033458C= | NCBI36 |
| NG_008195.1:g.10058C= , LRG_768:g.10058C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*192C= MANE Select | ENSP00000261267.2:n.*192C= | |
| ENST00000261267.6:c.*192C= | ENSP00000261267.2:n.*192C= | |
| ENST00000549690.1:c.*146C= | ENSP00000449898.1:n.*146C= | |
| NM_000239.2:c.*192C= , LRG_768t1:c.*192C= | NP_000230.1:n.*192C= | |
| NM_000239.3:c.*192C= MANE Select | NP_000230.1:n.*192C= |