Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882727C>T , CM000676.2:g.100882727C>T | GRCh38 |
| NC_000014.8:g.101349064C>T , CM000676.1:g.101349064C>T | GRCh37 |
| NC_000014.7:g.100418817C>T | NCBI36 |
| NG_045001.1:g.7121G>A | |
| NG_045000.5:g.51459C>T | |
| NG_045000.6:g.51459C>T | |
| NG_045001.2:g.25996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.2062G>A MANE Select | ENSP00000497482.1:p.Ala688Thr | |
| ENST00000534062.1:c.2062G>A | ENSP00000435342.1:p.Ala688Thr | |
| NM_001134888.2:c.2062G>A | NP_001128360.1:p.Ala688Thr | |
| NM_001134888.3:c.2062G>A MANE Select | NP_001128360.1:p.Ala688Thr |