Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040475G= , CM000664.2:g.86040475G= | GRCh38 |
| NC_000002.11:g.86267598G= , CM000664.1:g.86267598G= | GRCh37 |
| NC_000002.10:g.86121109G= | NCBI36 |
| NG_050742.2:g.70681C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.3657C= MANE Select | ENSP00000263857.6:p.Ile1219= | |
| ENST00000263857.10:c.3657C= | ENSP00000263857.6:p.Ile1219= | |
| ENST00000409681.1:c.3657C= | ENSP00000386300.1:p.Ile1219= | |
| ENST00000462078.1:n.45C= | ||
| NM_015425.3:c.3657C= | NP_056240.2:p.Ile1219= | |
| XM_006711983.2:c.3333C= | XP_006712046.1:p.Ile1111= | |
| NM_015425.5:c.3657C= | NP_056240.2:p.Ile1219= | |
| NM_015425.6:c.3657C= MANE Select | NP_056240.2:p.Ile1219= |