Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584069C>A , CM000679.2:g.41584069C>A | GRCh38 |
| NC_000017.10:g.39740321C>A , CM000679.1:g.39740321C>A | GRCh37 |
| NC_000017.9:g.36993847C>A | NCBI36 |
| NG_008624.1:g.7827G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-148G>T MANE Select | ENSP00000167586.6:n.766-148G>T | |
| ENST00000167586.6:c.766-148G>T | ENSP00000167586.6:n.766-148G>T | |
| ENST00000476662.1:n.216-148G>T | ||
| NM_000526.4:c.766-148G>T | NP_000517.2:n.766-148G>T | |
| NM_000526.5:c.766-148G>T MANE Select | NP_000517.3:n.766-148G>T |