Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32177812T= , CM000668.2:g.32177812T= | GRCh38 |
| NC_000006.11:g.32145589T= , CM000668.1:g.32145589T= | GRCh37 |
| NC_000006.10:g.32253567T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336984.6:c.-10+189A= | ENSP00000337463.6:n.-10+189A= | |
| NM_032741.4:c.-10+189A= | NP_116130.2:n.-10+189A= | |
| XM_011514234.1:c.-278A= | XP_011512536.1:n.-278A= | |
| NM_032741.5:c.-10+189A= | NP_116130.2:n.-10+189A= |