Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68156431A>T , CM000674.2:g.68156431A>T | GRCh38 |
| NC_000012.11:g.68550211A>T , CM000674.1:g.68550211A>T | GRCh37 |
| NC_000012.10:g.66836478A>T | NCBI36 |
| NG_015840.1:g.8311T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229135.4:c.367-944T>A MANE Select | ENSP00000229135.3:n.367-944T>A | |
| ENST00000229135.3:c.367-944T>A | ENSP00000229135.3:n.367-944T>A | |
| NM_000619.2:c.367-944T>A | NP_000610.2:n.367-944T>A | |
| NM_000619.3:c.367-944T>A MANE Select | NP_000610.2:n.367-944T>A |