Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33275114C= , CM000682.2:g.33275114C= | GRCh38 |
| NC_000020.10:g.31862920C= , CM000682.1:g.31862920C= | GRCh37 |
| NC_000020.9:g.31326581C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423645.5:c.-42+1460C= | ENSP00000390471.1:n.-42+1460C= | |
| XM_024452018.1:c.-295+1460C= | XP_024307786.1:n.-295+1460C= |