Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445455C= , CM000673.2:g.2445455C= | GRCh38 |
| NC_000011.9:g.2466685C= , CM000673.1:g.2466685C= | GRCh37 |
| NC_000011.8:g.2423261C= | NCBI36 |
| NG_008935.1:g.5465C= , LRG_287:g.5465C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.96C= | ENSP00000434560.2:p.Gly32= | |
| ENST00000646564.2:c.357C= | ENSP00000495806.2:p.Gly119= | |
| ENST00000155840.12:c.357C= MANE Select | ENSP00000155840.2:p.Gly119= | |
| ENST00000646564.1:c.3C= | ENSP00000495806.1:p.Gly1= | |
| ENST00000155840.9:c.357C= | ENSP00000155840.2:p.Gly119= | |
| ENST00000345015.4:n.134C= | ||
| ENST00000496887.6:c.96C= | ENSP00000434560.1:p.Gly32= | |
| NM_000218.2:c.357C= , LRG_287t1:c.357C= | NP_000209.2:p.Gly119= | |
| NM_000218.3:c.357C= MANE Select | NP_000209.2:p.Gly119= |