Revel Score:
ENST00000438045
0.644
ENST00000248633 (MANE Select)
0.644
ENST00000428214
0.644
ENST00000545192
0.644
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511017T>A , CM000669.2:g.92511017T>A | GRCh38 |
| NC_000007.13:g.92140331T>A , CM000669.1:g.92140331T>A | GRCh37 |
| NC_000007.12:g.91978267T>A | NCBI36 |
| NG_008341.1:g.22515A>T | |
| NG_008341.2:g.22515A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1514A>T MANE Select | ENSP00000248633.4:p.His505Leu | |
| ENST00000248633.8:c.1514A>T | ENSP00000248633.4:p.His505Leu | |
| ENST00000422866.1:c.415A>T | ||
| ENST00000428214.5:c.1514A>T | ENSP00000394413.1:p.His505Leu | |
| ENST00000438045.5:c.548A>T | ENSP00000410438.1:p.His183Leu | |
| ENST00000476923.1:n.275A>T | ||
| ENST00000484913.5:n.1553A>T | ||
| NM_000466.2:c.1514A>T | NP_000457.1:p.His505Leu | |
| NM_001282677.1:c.1514A>T | NP_001269606.1:p.His505Leu | |
| NM_001282678.1:c.890A>T | NP_001269607.1:p.His297Leu | |
| XM_005250433.3:c.-153A>T | XP_005250490.1:n.-153A>T | |
| XR_242246.3:n.1610A>T | ||
| XM_017012319.2:c.-153A>T | XP_016867808.1:n.-153A>T | |
| XR_001744808.2:n.624A>T | ||
| XR_242246.5:n.1561A>T | ||
| NM_000466.3:c.1514A>T MANE Select | NP_000457.1:p.His505Leu | |
| NM_001282677.2:c.1514A>T | NP_001269606.1:p.His505Leu | |
| NM_001282678.2:c.890A>T | NP_001269607.1:p.His297Leu |