Revel Score:
ENST00000399820 (MANE Select)
0.223
ENST00000288634
0.223
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00229996 (AFR)
Genomes Max Group AF
0.00186966 (AFR)
Exomes Max Group AF
0.00256811 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39245394C>T , CM000666.2:g.39245394C>T | GRCh38 |
| NC_000004.11:g.39247014C>T , CM000666.1:g.39247014C>T | GRCh37 |
| NC_000004.10:g.38923409C>T | NCBI36 |
| NG_031813.1:g.67991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.2671C>T MANE Select | ENSP00000382717.3:p.His891Tyr | |
| ENST00000399820.7:c.2671C>T | ENSP00000382717.3:p.His891Tyr | |
| ENST00000506869.5:c.*2252C>T | ENSP00000424319.1:n.*2252C>T | |
| ENST00000512095.5:n.1669C>T | ||
| NM_025132.3:c.2671C>T | NP_079408.3:p.His891Tyr | |
| XM_011513724.1:c.2683C>T | XP_011512026.1:p.His895Tyr | |
| XM_011513725.1:c.2617C>T | XP_011512027.1:p.His873Tyr | |
| XM_011513726.1:c.2203C>T | XP_011512028.1:p.His735Tyr | |
| XM_011513727.1:c.2203C>T | XP_011512029.1:p.His735Tyr | |
| XM_011513728.1:c.2191C>T | XP_011512030.1:p.His731Tyr | |
| XM_011513729.1:c.2683C>T | XP_011512031.1:p.His895Tyr | |
| XR_925155.1:n.2747C>T | ||
| NM_001317924.1:c.2191C>T | NP_001304853.1:p.His731Tyr | |
| XM_011513725.2:c.2617C>T | XP_011512027.1:p.His873Tyr | |
| XM_011513726.3:c.2203C>T | XP_011512028.1:p.His735Tyr | |
| XM_017008501.1:c.2191C>T | XP_016863990.1:p.His731Tyr | |
| XR_001741306.1:n.2747C>T | ||
| XR_001741307.1:n.2735C>T | ||
| XR_001741308.1:n.2747C>T | ||
| XR_001741309.1:n.2735C>T | ||
| XR_001741310.1:n.2735C>T | ||
| XR_001741311.2:n.2584C>T | ||
| NM_025132.4:c.2671C>T MANE Select | NP_079408.3:p.His891Tyr | |
| NM_001317924.2:c.2191C>T | NP_001304853.1:p.His731Tyr |