Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913263C= , CM000674.2:g.110913263C= | GRCh38 |
| NC_000012.11:g.111351067C= , CM000674.1:g.111351067C= | GRCh37 |
| NC_000012.10:g.109835450C= | NCBI36 |
| NG_007554.1:g.12315G= , LRG_393:g.12315G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.336G= MANE Select | ENSP00000228841.8:p.Gly112= | |
| ENST00000663220.1:c.279G= | ENSP00000499568.1:p.Gly93= | |
| ENST00000228841.12:c.336G= | ENSP00000228841.7:p.Gly112= | |
| ENST00000548438.1:c.294G= | ENSP00000447154.1:p.Gly98= | |
| ENST00000549029.1:n.167G= | ||
| NM_000432.3:c.336G= , LRG_393t1:c.336G= | NP_000423.2:p.Gly112= | |
| NM_000432.4:c.336G= MANE Select | NP_000423.2:p.Gly112= |