Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189039362T>C , CM000664.2:g.189039362T>C | GRCh38 |
| NC_000002.11:g.189904088T>C , CM000664.1:g.189904088T>C | GRCh37 |
| NC_000002.10:g.189612333T>C | NCBI36 |
| NG_011799.1:g.145518A>G | |
| NG_011799.2:g.145518A>G | |
| NG_011799.3:g.190940A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.3835A>G MANE Select | NP_000384.2:p.Ile1279Val |
| ENST00000374866.9:c.3835A>G MANE Select | ENSP00000364000.3:p.Ile1279Val |
| NM_000393.3:c.3835A>G | NP_000384.2:p.Ile1279Val |
| NM_000393.4:c.3835A>G | NP_000384.2:p.Ile1279Val |
| ENST00000374866.7:c.3835A>G | ENSP00000364000.3:p.Ile1279Val |
| ENST00000618828.1:c.2674A>G | ENSP00000482184.1:p.Ile892Val |
| XM_011510573.1:c.3697A>G | XP_011508875.1:p.Ile1233Val |
| XM_011510573.3:c.3697A>G | XP_011508875.1:p.Ile1233Val |