Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.57901564A= , CM000663.2:g.57901564A= | GRCh38 |
| NC_000001.10:g.58367236A= , CM000663.1:g.58367236A= | GRCh37 |
| NC_000001.9:g.58139824A= | NCBI36 |
| NG_046914.2:g.353984T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001353980.1:c.-374-17402T= | NP_001340909.1:n.-374-17402T= |
| NM_001353980.2:c.-374-17402T= | NP_001340909.1:n.-374-17402T= |
| NM_001379461.1:c.-374-17402T= | NP_001366390.1:n.-374-17402T= |
| NM_001379462.1:c.-374-17402T= | NP_001366391.1:n.-374-17402T= |
| NM_021080.3:c.-374-17402T= | NP_066566.3:n.-374-17402T= |
| NM_021080.4:c.-374-17402T= | NP_066566.3:n.-374-17402T= |
| NM_021080.5:c.-374-17402T= | NP_066566.3:n.-374-17402T= |
| ENST00000485760.5:n.388-17402T= |