Revel Score:
ENST00000513745
0.026
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19156557 (AFR)
Genomes Max Group AF
0.18760496 (AFR)
Exomes Max Group AF
0.19404358 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50676062C>T , CM000679.2:g.50676062C>T | GRCh38 |
| NC_000017.10:g.48753423C>T , CM000679.1:g.48753423C>T | GRCh37 |
| NC_000017.9:g.46108422C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285238.13:c.3039C>T MANE Select | ENSP00000285238.8:p.Gly1013= | |
| ENST00000285238.12:c.3039C>T | ENSP00000285238.8:p.Gly1013= | |
| ENST00000502426.5:c.*1561C>T | ENSP00000427073.1:n.*1561C>T | |
| ENST00000505699.5:c.3039C>T | ENSP00000427521.1:p.Gly1013= | |
| ENST00000510633.5:c.828C>T | ENSP00000422058.1:n.828C>T | |
| ENST00000510891.1:n.675C>T | ||
| ENST00000513745.1:c.484C>T | ||
| NM_003786.3:c.3039C>T | NP_003777.2:p.Gly1013= | |
| XM_005257763.2:c.2847C>T | XP_005257820.1:p.Gly949= | |
| XM_011525422.1:c.2952C>T | XP_011523724.1:p.Gly984= | |
| XM_011525423.1:c.3144C>T | XP_011523725.1:p.Gly1048= | |
| XM_011525424.1:c.2364C>T | XP_011523726.1:p.Gly788= | |
| XM_011525425.1:c.2313C>T | XP_011523727.1:p.Gly771= | |
| XR_934586.1:n.3237C>T | ||
| XM_005257763.3:c.2847C>T | XP_005257820.1:p.Gly949= | |
| XM_011525422.2:c.2952C>T | XP_011523724.1:p.Gly984= | |
| XM_011525424.2:c.2364C>T | XP_011523726.1:p.Gly788= | |
| XM_011525425.2:c.2313C>T | XP_011523727.1:p.Gly771= | |
| XM_017025265.2:c.2313C>T | XP_016880754.1:p.Gly771= | |
| XM_017025266.1:c.3144C>T | XP_016880755.1:p.Gly1048= | |
| XR_001752674.1:n.3238C>T | ||
| XR_934586.3:n.3238C>T | ||
| NM_003786.4:c.3039C>T MANE Select | NP_003777.2:p.Gly1013= |