Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005946G= , CM000676.2:g.75005946G= | GRCh38 |
| NC_000014.8:g.75472649G= , CM000676.1:g.75472649G= | GRCh37 |
| NC_000014.7:g.74542402G= | NCBI36 |
| NG_013333.1:g.8038G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.678G= MANE Select | ENSP00000266126.5:p.Met226= | |
| ENST00000266126.9:c.678G= | ENSP00000266126.5:p.Met226= | |
| ENST00000553401.5:c.676G= | ENSP00000451681.1:n.676G= | |
| ENST00000554748.2:c.42G= | ENSP00000452582.2:p.Met14= | |
| ENST00000556028.5:c.*26G= | ENSP00000452311.1:n.*26G= | |
| NM_014239.3:c.678G= | NP_055054.1:p.Met226= | |
| NM_014239.4:c.678G= MANE Select | NP_055054.1:p.Met226= |