Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811836C= , CM000663.2:g.192811836C= | GRCh38 |
| NC_000001.10:g.192780966C= , CM000663.1:g.192780966C= | GRCh37 |
| NC_000001.9:g.191047589C= | NCBI36 |
| NG_012800.1:g.7798C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*240C= MANE Select | ENSP00000235382.5:n.*240C= | |
| ENST00000235382.6:c.*240C= | ENSP00000235382.5:n.*240C= | |
| NM_002923.3:c.*240C= | NP_002914.1:n.*240C= | |
| NM_002923.4:c.*240C= MANE Select | NP_002914.1:n.*240C= |