Revel Score:
ENST00000509621
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005194 (NFE)
Genomes Max Group AF
0.00004766 (NFE)
Exomes Max Group AF
0.00004901 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90753705C>T , CM000667.2:g.90753705C>T | GRCh38 |
| NC_000005.9:g.90049522C>T , CM000667.1:g.90049522C>T | GRCh37 |
| NC_000005.8:g.90085278C>T | NCBI36 |
| NG_007083.1:g.199906C>T | |
| NG_007083.2:g.229362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.11253C>T MANE Select | ENSP00000384582.2:p.Tyr3751= | |
| ENST00000425867.3:c.384C>T | ENSP00000392618.3:p.Tyr128= | |
| ENST00000639431.1:c.265+77496C>T | ENSP00000491057.1:n.265+77496C>T | |
| ENST00000640374.1:n.4397C>T | ||
| ENST00000640464.1:n.1672C>T | ||
| ENST00000405460.6:c.11253C>T | ENSP00000384582.2:p.Tyr3751= | |
| ENST00000509621.1:c.3950C>T | ||
| NM_032119.3:c.11253C>T | NP_115495.3:p.Tyr3751= | |
| NR_003149.1:n.11266C>T | ||
| XM_011543675.1:c.11250C>T | XP_011541977.1:p.Tyr3750= | |
| XM_011543676.1:c.11172C>T | XP_011541978.1:p.Tyr3724= | |
| XM_011543677.1:c.8556C>T | XP_011541979.1:p.Tyr2852= | |
| XM_011543678.1:c.11253C>T | XP_011541980.1:p.Tyr3751= | |
| NM_032119.4:c.11253C>T MANE Select | NP_115495.3:p.Tyr3751= | |
| XM_017009963.2:c.11274C>T | XP_016865452.1:p.Tyr3758= | |
| XM_017009964.2:c.11271C>T | XP_016865453.1:p.Tyr3757= | |
| XM_017009965.1:c.11271C>T | XP_016865454.1:p.Tyr3757= | |
| XM_017009966.2:c.11193C>T | XP_016865455.1:p.Tyr3731= | |
| XM_017009967.1:c.11178C>T | XP_016865456.1:p.Tyr3726= | |
| XM_017009968.2:c.11274C>T | XP_016865457.1:p.Tyr3758= | |
| XM_017009969.2:c.11274C>T | XP_016865458.1:p.Tyr3758= | |
| XM_017009970.2:c.11274C>T | XP_016865459.1:p.Tyr3758= | |
| XM_017009971.2:c.11274C>T | XP_016865460.1:p.Tyr3758= | |
| XM_017009972.1:c.4392C>T | XP_016865461.1:p.Tyr1464= | |
| XM_017009973.1:c.4371C>T | XP_016865462.1:p.Tyr1457= | |
| NR_003149.2:n.11269C>T |