Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12290324G= , CM000668.2:g.12290324G= | GRCh38 |
| NC_000006.11:g.12290557G= , CM000668.1:g.12290557G= | GRCh37 |
| NC_000006.10:g.12398543G= | NCBI36 |
| NG_016196.1:g.5029G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001168319.1:c.-306G= | NP_001161791.1:n.-306G= | |
| NM_001955.4:c.-306G= | NP_001946.3:n.-306G= | |
| XM_011514330.1:c.-1-305G= | XP_011512632.1:n.-1-305G= | |
| XM_011514331.1:c.-1-305G= | XP_011512633.1:n.-1-305G= | |
| XM_011514332.1:c.-1-305G= | XP_011512634.1:n.-1-305G= | |
| XM_011514330.2:c.-1-305G= | XP_011512632.1:n.-1-305G= | |
| XM_011514331.3:c.-1-305G= | XP_011512633.1:n.-1-305G= | |
| XM_011514332.2:c.-1-305G= | XP_011512634.1:n.-1-305G= | |
| XM_017010331.1:c.-2+201G= | XP_016865820.1:n.-2+201G= |