Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648067C= , CM000673.2:g.69648067C= | GRCh38 |
| NC_000011.9:g.69462835C= , CM000673.1:g.69462835C= | GRCh37 |
| NC_000011.8:g.69172016C= | NCBI36 |
| NG_007375.1:g.11963C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.648C= MANE Select | ENSP00000227507.2:p.Asn216= | |
| ENST00000227507.2:c.648C= | ENSP00000227507.2:p.Asn216= | |
| ENST00000536559.1:c.*68C= | ENSP00000438482.1:n.*68C= | |
| ENST00000542367.1:n.111C= | ||
| ENST00000545484.1:n.354C= | ||
| NM_053056.2:c.648C= | NP_444284.1:p.Asn216= | |
| XM_006718653.2:c.672C= | XP_006718716.1:p.Asn224= | |
| NM_053056.3:c.648C= MANE Select | NP_444284.1:p.Asn216= |