Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12288986T= , CM000668.2:g.12288986T= | GRCh38 |
| NC_000006.11:g.12289219T= , CM000668.1:g.12289219T= | GRCh37 |
| NC_000006.10:g.12397205T= | NCBI36 |
| NG_016196.1:g.3691T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011514330.1:c.-2+491T= | XP_011512632.1:n.-2+491T= |
| XM_011514330.2:c.-2+491T= | XP_011512632.1:n.-2+491T= |
| XM_011514331.1:c.-1-1643T= | XP_011512633.1:n.-1-1643T= |
| XM_011514331.3:c.-1-1643T= | XP_011512633.1:n.-1-1643T= |
| XM_011514332.1:c.-2+491T= | XP_011512634.1:n.-2+491T= |
| XM_011514332.2:c.-2+491T= | XP_011512634.1:n.-2+491T= |