Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36563371A= , CM000683.2:g.36563371A= | GRCh38 |
| NC_000021.8:g.37935669A= , CM000683.1:g.37935669A= | GRCh37 |
| NC_000021.7:g.36857539A= | NCBI36 |
| NG_011777.1:g.18199T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001146077.1:c.-220+13040T= | NP_001139549.1:n.-220+13040T= |
| NM_001146077.2:c.-220+13040T= | NP_001139549.1:n.-220+13040T= |
| ENST00000342108.2:c.-220+13040T= | ENSP00000339292.2:n.-220+13040T= |
| XM_011529519.1:c.-353-2158T= | XP_011527821.1:n.-353-2158T= |