Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446722A= , CM000666.2:g.39446722A= | GRCh38 |
| NC_000004.11:g.39448342A= , CM000666.1:g.39448342A= | GRCh37 |
| NC_000004.10:g.39124737A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.1996A= MANE Select | ENSP00000257408.4:p.Thr666= | |
| ENST00000257408.4:c.1996A= | ENSP00000257408.4:p.Thr666= | |
| NM_175737.3:c.1996A= | NP_783864.1:p.Thr666= | |
| XM_005262644.1:c.1969A= | XP_005262701.1:p.Thr657= | |
| NM_175737.4:c.1996A= MANE Select | NP_783864.1:p.Thr666= |