Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044348C= , CM000672.2:g.114044348C= | GRCh38 |
| NC_000010.10:g.115804107C= , CM000672.1:g.115804107C= | GRCh37 |
| NC_000010.9:g.115794097C= | NCBI36 |
| NG_012187.1:g.5302C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.216C= MANE Select | ENSP00000358301.2:p.Ile72= | |
| ENST00000369295.3:c.216C= | ENSP00000358301.2:p.Ile72= | |
| NM_000684.2:c.216C= | NP_000675.1:p.Ile72= | |
| NM_000684.3:c.216C= MANE Select | NP_000675.1:p.Ile72= |