Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148825993T= , CM000667.2:g.148825993T= | GRCh38 |
| NC_000005.9:g.148205556T= , CM000667.1:g.148205556T= | GRCh37 |
| NC_000005.8:g.148185749T= | NCBI36 |
| NG_016421.1:g.4401T= | |
| NG_016421.2:g.4401T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000305988.5:c.-839T= | ENSP00000305372.4:n.-839T= |