Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53591884T= , CM000668.2:g.53591884T= | GRCh38 |
| NC_000006.11:g.53456682T= , CM000668.1:g.53456682T= | GRCh37 |
| NC_000006.10:g.53564641T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000505197.1:c.-454+25002A= | ENSP00000427403.1:n.-454+25002A= |