Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.131128204T= , CM000669.2:g.131128204T= | GRCh38 |
| NC_000007.13:g.130812963T= , CM000669.1:g.130812963T= | GRCh37 |
| NC_000007.12:g.130463503T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001145354.1:c.-93-14616T= | NP_001138826.1:n.-93-14616T= |
| NM_001145354.2:c.-93-14616T= | NP_001138826.1:n.-93-14616T= |
| ENST00000416992.6:c.-418-14616T= | ENSP00000387920.1:n.-418-14616T= |
| ENST00000421797.6:c.-300-14616T= | ENSP00000398094.2:n.-300-14616T= |
| XM_024446767.1:c.-418-14616T= | XP_024302535.1:n.-418-14616T= |