Revel Score:
ENST00000260197 (MANE Select)
0.325
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121496917T>G , CM000673.2:g.121496917T>G | GRCh38 |
| NC_000011.9:g.121367626T>G , CM000673.1:g.121367626T>G | GRCh37 |
| NC_000011.8:g.120872836T>G | NCBI36 |
| NG_023313.1:g.49666T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.807T>G MANE Select | ENSP00000260197.6:p.His269Gln | |
| ENST00000260197.11:c.807T>G | ENSP00000260197.6:p.His269Gln | |
| ENST00000532451.1:n.759T>G | ||
| NM_003105.5:c.807T>G | NP_003096.1:p.His269Gln | |
| XM_011542963.1:c.807T>G | XP_011541265.1:p.His269Gln | |
| XM_011542964.1:c.807T>G | XP_011541266.1:p.His269Gln | |
| XM_011542963.3:c.807T>G | XP_011541265.1:p.His269Gln | |
| XM_017018169.2:c.495T>G | XP_016873658.1:p.His165Gln | |
| XM_017018170.2:c.282T>G | XP_016873659.1:p.His94Gln | |
| XM_017018171.1:c.807T>G | XP_016873660.1:p.His269Gln | |
| NM_003105.6:c.807T>G MANE Select | NP_003096.2:p.His269Gln |