Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317636C= , CM000678.2:g.2317636C= | GRCh38 |
| NC_000016.9:g.2367637C= , CM000678.1:g.2367637C= | GRCh37 |
| NC_000016.8:g.2307638C= | NCBI36 |
| NG_011790.1:g.28111G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.990+12G= MANE Select | ENSP00000301732.5:n.990+12G= | |
| ENST00000301732.9:c.990+12G= | ENSP00000301732.5:n.990+12G= | |
| ENST00000382381.7:c.990+12G= | ENSP00000371818.3:n.990+12G= | |
| ENST00000563623.5:n.1553+12G= | ||
| NM_001089.2:c.990+12G= | NP_001080.2:n.990+12G= | |
| NM_001089.3:c.990+12G= MANE Select | NP_001080.2:n.990+12G= |