Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651430C= , CM000672.2:g.119651430C= | GRCh38 |
| NC_000010.10:g.121410942C= , CM000672.1:g.121410942C= | GRCh37 |
| NC_000010.9:g.121400932C= | NCBI36 |
| NG_016125.1:g.5061C= , LRG_742:g.5061C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.-246C= MANE Select | ENSP00000358081.4:n.-246C= | |
| ENST00000369085.7:c.-246C= | ENSP00000358081.3:n.-246C= | |
| NM_004281.3:c.-246C= , LRG_742t1:c.-246C= | NP_004272.2:n.-246C= | |
| XM_005270287.1:c.-246C= | XP_005270344.1:n.-246C= | |
| XM_005270287.2:c.-246C= | XP_005270344.1:n.-246C= | |
| NM_004281.4:c.-246C= MANE Select | NP_004272.2:n.-246C= |