Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1984731C>T , CM000678.2:g.1984731C>T | GRCh38 |
| NC_000016.9:g.2034732C>T , CM000678.1:g.2034732C>T | GRCh37 |
| NC_000016.8:g.1974733C>T | NCBI36 |
| NG_016288.1:g.5583C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005262.3:c.259-16C>T MANE Select | NP_005253.3:n.259-16C>T |
| ENST00000248114.7:c.259-16C>T MANE Select | ENSP00000248114.6:n.259-16C>T |
| NM_005262.2:c.259-16C>T | NP_005253.3:n.259-16C>T |
| ENST00000248114.6:c.259-16C>T | ENSP00000248114.6:n.259-16C>T |
| ENST00000561710.1:c.220-16C>T | ENSP00000456189.1:n.220-16C>T |
| ENST00000565658.1:n.400C>T | |
| ENST00000567719.1:c.18C>T | ENSP00000455885.1:p.Val6= |
| ENST00000567719.2:c.18C>T | ENSP00000455885.1:p.Val6= |
| ENST00000569451.1:c.258+255C>T | ENSP00000456432.1:n.258+255C>T |