Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1205890C= , CM000681.2:g.1205890C= | GRCh38 |
| NC_000019.9:g.1205889C= , CM000681.1:g.1205889C= | GRCh37 |
| NC_000019.8:g.1156889C= | NCBI36 |
| NG_007460.2:g.21484C= , LRG_319:g.21484C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000455.5:c.-1024C= MANE Select | NP_000446.1:n.-1024C= |
| ENST00000326873.12:c.-1024C= MANE Select | ENSP00000324856.6:n.-1024C= |
| NM_000455.4:c.-1024C= , LRG_319t1:c.-1024C= | NP_000446.1:n.-1024C= |
| ENST00000585465.3:c.-1024C= | ENSP00000490268.2:n.-1024C= |
| ENST00000585748.2:c.-82-12527C= | ENSP00000477641.1:n.-82-12527C= |
| ENST00000585748.3:c.-82-12527C= | ENSP00000477641.2:n.-82-12527C= |
| ENST00000586243.5:c.-875C= | ENSP00000467240.2:n.-875C= |