Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034937G>A , CM000664.2:g.189034937G>A | GRCh38 |
| NC_000002.11:g.189899663G>A , CM000664.1:g.189899663G>A | GRCh37 |
| NC_000002.10:g.189607908G>A | NCBI36 |
| NG_011799.1:g.149943C>T | |
| NG_011799.2:g.149943C>T | |
| NG_011799.3:g.195365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4332C>T MANE Select | ENSP00000364000.3:p.Ile1444= | |
| ENST00000374866.7:c.4332C>T | ENSP00000364000.3:p.Ile1444= | |
| ENST00000618828.1:c.3171C>T | ENSP00000482184.1:p.Ile1057= | |
| NM_000393.3:c.4332C>T | NP_000384.2:p.Ile1444= | |
| XM_011510573.1:c.4194C>T | XP_011508875.1:p.Ile1398= | |
| NM_000393.4:c.4332C>T | NP_000384.2:p.Ile1444= | |
| XM_011510573.3:c.4194C>T | XP_011508875.1:p.Ile1398= | |
| NM_000393.5:c.4332C>T MANE Select | NP_000384.2:p.Ile1444= |