Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098750T= , CM000664.2:g.189098750T= | GRCh38 |
| NC_000002.11:g.189963476T= , CM000664.1:g.189963476T= | GRCh37 |
| NC_000002.10:g.189671721T= | NCBI36 |
| NG_011799.1:g.86130A= | |
| NG_011799.2:g.86130A= | |
| NG_011799.3:g.131552A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.379A= MANE Select | ENSP00000364000.3:p.Ile127= | |
| ENST00000649966.1:c.241A= | ENSP00000496785.1:p.Ile81= | |
| ENST00000374866.7:c.379A= | ENSP00000364000.3:p.Ile127= | |
| ENST00000618828.1:c.-252A= | ENSP00000482184.1:n.-252A= | |
| NM_000393.3:c.379A= | NP_000384.2:p.Ile127= | |
| XM_011510573.1:c.241A= | XP_011508875.1:p.Ile81= | |
| NM_000393.4:c.379A= | NP_000384.2:p.Ile127= | |
| XM_011510573.3:c.241A= | XP_011508875.1:p.Ile81= | |
| NM_000393.5:c.379A= MANE Select | NP_000384.2:p.Ile127= |