Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75006701A= , CM000676.2:g.75006701A= | GRCh38 |
| NC_000014.8:g.75473404A= , CM000676.1:g.75473404A= | GRCh37 |
| NC_000014.7:g.74543157A= | NCBI36 |
| NG_013333.1:g.8793A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014239.4:c.818A= MANE Select | NP_055054.1:p.Lys273= |
| ENST00000266126.10:c.818A= MANE Select | ENSP00000266126.5:p.Lys273= |
| NM_014239.3:c.818A= | NP_055054.1:p.Lys273= |
| ENST00000266126.9:c.818A= | ENSP00000266126.5:p.Lys273= |
| ENST00000553401.5:c.816A= | ENSP00000451681.1:n.816A= |
| ENST00000554748.2:c.182A= | ENSP00000452582.2:p.Lys61= |
| ENST00000556028.5:c.*166A= | ENSP00000452311.1:n.*166A= |
| ENST00000556668.1:n.398A= |