Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2337259G= , CM000678.2:g.2337259G= | GRCh38 |
| NC_000016.9:g.2387260G= , CM000678.1:g.2387260G= | GRCh37 |
| NC_000016.8:g.2327261G= | NCBI36 |
| NG_011790.1:g.8488C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.-539+3314C= MANE Select | NP_001080.2:n.-539+3314C= |
| ENST00000301732.10:c.-539+3314C= MANE Select | ENSP00000301732.5:n.-539+3314C= |
| NM_001089.2:c.-539+3314C= | NP_001080.2:n.-539+3314C= |
| ENST00000301732.9:c.-539+3314C= | ENSP00000301732.5:n.-539+3314C= |
| ENST00000382381.7:c.-539+3314C= | ENSP00000371818.3:n.-539+3314C= |
| ENST00000563623.5:n.25+3314C= |