Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32177622C= , CM000668.2:g.32177622C= | GRCh38 |
| NC_000006.11:g.32145399C= , CM000668.1:g.32145399C= | GRCh37 |
| NC_000006.10:g.32253377C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032741.4:c.-10+379G= | NP_116130.2:n.-10+379G= |
| NM_032741.5:c.-10+379G= | NP_116130.2:n.-10+379G= |
| ENST00000336984.6:c.-10+379G= | ENSP00000337463.6:n.-10+379G= |
| ENST00000395497.5:c.-88G= | ENSP00000378875.1:n.-88G= |
| XM_005248806.2:c.-398G= | XP_005248863.1:n.-398G= |
| XM_011514234.1:c.-88G= | XP_011512536.1:n.-88G= |