Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005906A= , CM000676.2:g.75005906A= | GRCh38 |
| NC_000014.8:g.75472609A= , CM000676.1:g.75472609A= | GRCh37 |
| NC_000014.7:g.74542362A= | NCBI36 |
| NG_013333.1:g.7998A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014239.4:c.638A= MANE Select | NP_055054.1:p.Glu213= |
| ENST00000266126.10:c.638A= MANE Select | ENSP00000266126.5:p.Glu213= |
| NM_014239.3:c.638A= | NP_055054.1:p.Glu213= |
| ENST00000266126.9:c.638A= | ENSP00000266126.5:p.Glu213= |
| ENST00000553401.5:c.636A= | ENSP00000451681.1:n.636A= |
| ENST00000554748.2:c.2A= | ENSP00000452582.2:p.Glu1= |
| ENST00000556028.5:c.607A= | ENSP00000452311.1:p.Arg203= |