Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647874G= , CM000673.2:g.69647874G= | GRCh38 |
| NC_000011.9:g.69462642G= , CM000673.1:g.69462642G= | GRCh37 |
| NC_000011.8:g.69171823G= | NCBI36 |
| NG_007375.1:g.11770G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053056.3:c.575-120G= MANE Select | NP_444284.1:n.575-120G= |
| ENST00000227507.3:c.575-120G= MANE Select | ENSP00000227507.2:n.575-120G= |
| NM_053056.2:c.575-120G= | NP_444284.1:n.575-120G= |
| ENST00000227507.2:c.575-120G= | ENSP00000227507.2:n.575-120G= |
| ENST00000536559.1:c.199-120G= | ENSP00000438482.1:n.199-120G= |
| ENST00000545484.1:n.281-120G= | |
| XM_006718653.2:c.599-120G= | XP_006718716.1:n.599-120G= |