SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231270906C>T , CM000663.2:g.231270906C>T | GRCh38 |
| NC_000001.10:g.231406652C>T , CM000663.1:g.231406652C>T | GRCh37 |
| NC_000001.9:g.229473275C>T | NCBI36 |
| NG_008240.1:g.34734C>T | |
| NG_008240.2:g.34734C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014236.4:c.1428C>T MANE Select | NP_055051.1:p.Leu476= |
| ENST00000366647.9:c.1428C>T MANE Select | ENSP00000355607.4:p.Leu476= |
| NM_001316350.1:c.1245C>T | NP_001303279.1:p.Leu415= |
| NM_001316350.2:c.1245C>T | NP_001303279.1:p.Leu415= |
| NM_014236.3:c.1428C>T | NP_055051.1:p.Leu476= |
| ENST00000366647.8:c.1428C>T | ENSP00000355607.4:p.Leu476= |
| ENST00000416000.1:c.1398C>T | ENSP00000411640.1:p.Leu466= |
| ENST00000644483.1:c.*1114C>T | ENSP00000496537.1:n.*1114C>T |
| XM_005273313.3:c.1425C>T | XP_005273370.1:p.Leu475= |
| XM_005273313.4:c.1425C>T | XP_005273370.1:p.Leu475= |
| XM_011544303.1:c.1101C>T | XP_011542605.1:p.Leu367= |
| XM_011544303.3:c.1101C>T | XP_011542605.1:p.Leu367= |
| XM_011544304.1:c.1101C>T | XP_011542606.1:p.Leu367= |
| XM_011544304.2:c.1101C>T | XP_011542606.1:p.Leu367= |