Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33080884A= , CM000668.2:g.33080884A= | GRCh38 |
| NC_000006.11:g.33048661A= , CM000668.1:g.33048661A= | GRCh37 |
| NC_000006.10:g.33156639A= | NCBI36 |
| NG_033241.1:g.4895T= | |
| NG_033242.1:g.9959A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.313A= MANE Select | ENSP00000408146.2:p.Met105= | |
| ENST00000416804.1:c.213A= | ||
| ENST00000418931.6:c.313A= | ENSP00000408146.2:p.Met105= | |
| ENST00000428835.5:c.244A= | ENSP00000412654.1:p.Met82= | |
| ENST00000469120.1:n.345A= | ||
| ENST00000471184.5:n.362A= | ||
| ENST00000488575.1:n.362A= | ||
| ENST00000498038.1:n.442A= | ||
| NM_002121.5:c.313A= | NP_002112.3:p.Met105= | |
| XM_006715078.2:c.1A= | XP_006715141.1:p.Met1= | |
| NM_002121.6:c.313A= MANE Select | NP_002112.3:p.Met105= |