Revel Score:
ENST00000511045
0.037
ENST00000457717
0.037
ENST00000265517 (MANE Select)
0.037
ENST00000538053
0.037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99594865C>A , CM000666.2:g.99594865C>A | GRCh38 |
| NC_000004.11:g.100516022C>A , CM000666.1:g.100516022C>A | GRCh37 |
| NC_000004.10:g.100735045C>A | NCBI36 |
| NG_011469.1:g.35783C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.891C>A MANE Select | ENSP00000265517.5:p.His297Gln | |
| ENST00000457717.6:c.891C>A | ENSP00000400821.1:p.His297Gln | |
| ENST00000511045.6:c.642C>A | ENSP00000427679.2:p.His214Gln | |
| ENST00000265517.9:c.891C>A | ENSP00000265517.5:p.His297Gln | |
| ENST00000457717.5:c.891C>A | ENSP00000400821.1:p.His297Gln | |
| ENST00000511045.5:c.972C>A | ENSP00000427679.1:p.His324Gln | |
| ENST00000619629.1:c.891C>A | ENSP00000482850.1:p.His297Gln | |
| NM_000253.3:c.891C>A | NP_000244.2:p.His297Gln | |
| NM_001300785.1:c.972C>A | NP_001287714.1:p.His324Gln | |
| NM_000253.4:c.891C>A | NP_000244.2:p.His297Gln | |
| NM_001300785.2:c.642C>A | NP_001287714.2:p.His214Gln | |
| NM_001386140.1:c.891C>A MANE Select | NP_001373069.1:p.His297Gln |