Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985983G>T , CM000678.2:g.1985983G>T | GRCh38 |
| NC_000016.9:g.2035984G>T , CM000678.1:g.2035984G>T | GRCh37 |
| NC_000016.8:g.1975985G>T | NCBI36 |
| NG_016288.1:g.6835G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.348G>T | ENSP00000455885.1:p.Val116= | |
| ENST00000248114.7:c.573G>T MANE Select | ENSP00000248114.6:p.Val191= | |
| ENST00000248114.6:c.573G>T | ENSP00000248114.6:p.Val191= | |
| ENST00000565658.1:n.730G>T | ||
| ENST00000567719.1:c.348G>T | ENSP00000455885.1:p.Val116= | |
| ENST00000569451.1:c.*46G>T | ENSP00000456432.1:n.*46G>T | |
| NM_005262.2:c.573G>T | NP_005253.3:p.Val191= | |
| NM_005262.3:c.573G>T MANE Select | NP_005253.3:p.Val191= |