Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098750T>A , CM000664.2:g.189098750T>A | GRCh38 |
| NC_000002.11:g.189963476T>A , CM000664.1:g.189963476T>A | GRCh37 |
| NC_000002.10:g.189671721T>A | NCBI36 |
| NG_011799.1:g.86130A>T | |
| NG_011799.2:g.86130A>T | |
| NG_011799.3:g.131552A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.379A>T MANE Select | ENSP00000364000.3:p.Ile127Leu | |
| ENST00000649966.1:c.241A>T | ENSP00000496785.1:p.Ile81Leu | |
| ENST00000374866.7:c.379A>T | ENSP00000364000.3:p.Ile127Leu | |
| ENST00000618828.1:c.-252A>T | ENSP00000482184.1:n.-252A>T | |
| NM_000393.3:c.379A>T | NP_000384.2:p.Ile127Leu | |
| XM_011510573.1:c.241A>T | XP_011508875.1:p.Ile81Leu | |
| NM_000393.4:c.379A>T | NP_000384.2:p.Ile127Leu | |
| XM_011510573.3:c.241A>T | XP_011508875.1:p.Ile81Leu | |
| NM_000393.5:c.379A>T MANE Select | NP_000384.2:p.Ile127Leu |