Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985901C>T , CM000678.2:g.1985901C>T | GRCh38 |
| NC_000016.9:g.2035902C>T , CM000678.1:g.2035902C>T | GRCh37 |
| NC_000016.8:g.1975903C>T | NCBI36 |
| NG_016288.1:g.6753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.266C>T | ENSP00000455885.1:p.Ala89Val | |
| ENST00000248114.7:c.491C>T MANE Select | ENSP00000248114.6:p.Ala164Val | |
| ENST00000248114.6:c.491C>T | ENSP00000248114.6:p.Ala164Val | |
| ENST00000565658.1:n.648C>T | ||
| ENST00000567719.1:c.266C>T | ENSP00000455885.1:p.Ala89Val | |
| ENST00000569451.1:c.294C>T | ENSP00000456432.1:p.Gly98= | |
| NM_005262.2:c.491C>T | NP_005253.3:p.Ala164Val | |
| NM_005262.3:c.491C>T MANE Select | NP_005253.3:p.Ala164Val |