Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285402G= , CM000678.2:g.2285402G= | GRCh38 |
| NC_000016.9:g.2335403G= , CM000678.1:g.2335403G= | GRCh37 |
| NC_000016.8:g.2275404G= | NCBI36 |
| NG_011790.1:g.60345C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3483+40C= MANE Select | ENSP00000301732.5:n.3483+40C= | |
| ENST00000301732.9:c.3483+40C= | ENSP00000301732.5:n.3483+40C= | |
| ENST00000382381.7:c.3309+40C= | ENSP00000371818.3:n.3309+40C= | |
| NM_001089.2:c.3483+40C= | NP_001080.2:n.3483+40C= | |
| NM_001089.3:c.3483+40C= MANE Select | NP_001080.2:n.3483+40C= |