Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.73467637T= , CM000678.2:g.73467637T= | GRCh38 |
| NC_000016.9:g.73501536T= , CM000678.1:g.73501536T= | GRCh37 |
| NC_000016.8:g.72059037T= | NCBI36 |
| NG_013211.2:g.429295A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001386735.1:c.-1063-11379A= | NP_001373664.1:n.-1063-11379A= |
| ENST00000641206.2:c.-1546-11379A= | ENSP00000493252.1:n.-1546-11379A= |
| XM_024450275.1:c.-493-11379A= | XP_024306043.1:n.-493-11379A= |