Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811700C= , CM000663.2:g.192811700C= | GRCh38 |
| NC_000001.10:g.192780830C= , CM000663.1:g.192780830C= | GRCh37 |
| NC_000001.9:g.191047453C= | NCBI36 |
| NG_012800.1:g.7662C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*104C= MANE Select | ENSP00000235382.5:n.*104C= | |
| ENST00000235382.6:c.*104C= | ENSP00000235382.5:n.*104C= | |
| NM_002923.3:c.*104C= | NP_002914.1:n.*104C= | |
| NM_002923.4:c.*104C= MANE Select | NP_002914.1:n.*104C= |