Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278299G>T , CM000678.2:g.2278299G>T | GRCh38 |
| NC_000016.9:g.2328300G>T , CM000678.1:g.2328300G>T | GRCh37 |
| NC_000016.8:g.2268301G>T | NCBI36 |
| NG_011790.1:g.67448C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4707C>A MANE Select | ENSP00000301732.5:p.Ile1569= | |
| ENST00000301732.9:c.4707C>A | ENSP00000301732.5:p.Ile1569= | |
| ENST00000382381.7:c.4533C>A | ENSP00000371818.3:p.Ile1511= | |
| ENST00000566200.1:n.1228C>A | ||
| NM_001089.2:c.4707C>A | NP_001080.2:p.Ile1569= | |
| NM_001089.3:c.4707C>A MANE Select | NP_001080.2:p.Ile1569= |