Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445007C= , CM000673.2:g.2445007C= | GRCh38 |
| NC_000011.9:g.2466237C= , CM000673.1:g.2466237C= | GRCh37 |
| NC_000011.8:g.2422813C= | NCBI36 |
| NG_008935.1:g.5017C= , LRG_287:g.5017C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+299C= | ENSP00000434560.2:n.23+299C= | |
| ENST00000155840.9:c.-92C= | ENSP00000155840.2:n.-92C= | |
| ENST00000496887.6:c.23+299C= | ENSP00000434560.1:n.23+299C= | |
| NM_000218.2:c.-92C= , LRG_287t1:c.-92C= | NP_000209.2:n.-92C= |