Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109279555A= , CM000663.2:g.109279555A= | GRCh38 |
| NC_000001.10:g.109822177A= , CM000663.1:g.109822177A= | GRCh37 |
| NC_000001.9:g.109623700A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001005290.3:c.*566T= | NP_001005290.1:n.*566T= | |
| NM_001032291.2:c.*598T= | NP_001027462.1:n.*598T= | |
| NM_032636.7:c.*598T= | NP_116025.1:n.*598T= | |
| NM_001350237.1:c.*598T= | NP_001337166.1:n.*598T= | |
| NM_001350238.1:c.*598T= | NP_001337167.1:n.*598T= | |
| NM_001350239.1:c.*598T= | NP_001337168.1:n.*598T= | |
| NM_001350240.1:c.*598T= | NP_001337169.1:n.*598T= | |
| NM_001350241.1:c.*598T= | NP_001337170.1:n.*598T= | |
| NM_001350242.1:c.*598T= | NP_001337171.1:n.*598T= | |
| NM_001363309.1:c.*598T= | NP_001350238.1:n.*598T= |