Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76718175C= , CM000667.2:g.76718175C= | GRCh38 |
| NC_000005.9:g.76014000C= , CM000667.1:g.76014000C= | GRCh37 |
| NC_000005.8:g.76049756C= | NCBI36 |
| NG_032906.1:g.7133C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319211.5:c.88+1780C= MANE Select | ENSP00000321326.4:n.88+1780C= | |
| ENST00000319211.4:c.88+1780C= | ENSP00000321326.4:n.88+1780C= | |
| NM_001311313.1:c.-398+1780C= | NP_001298242.1:n.-398+1780C= | |
| NM_001992.3:c.88+1780C= | NP_001983.2:n.88+1780C= | |
| NM_001992.4:c.88+1780C= | NP_001983.2:n.88+1780C= | |
| NM_001992.5:c.88+1780C= MANE Select | NP_001983.2:n.88+1780C= | |
| NM_001311313.2:c.-398+1780C= | NP_001298242.1:n.-398+1780C= |