Revel Score:
ENST00000264042 (MANE Select)
0.574
ENST00000545004
0.574
ENST00000373287
0.574
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10705152 (MID)
Genomes Max Group AF
0.10608525 (NFE)
Exomes Max Group AF
0.10662869 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241431686C>T , CM000664.2:g.241431686C>T | GRCh38 |
| NC_000002.11:g.242371101C>T , CM000664.1:g.242371101C>T | GRCh37 |
| NC_000002.10:g.242019774C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264042.8:c.779C>T MANE Select | ENSP00000264042.3:p.Thr260Ile | |
| ENST00000264042.7:c.779C>T | ENSP00000264042.3:p.Thr260Ile | |
| ENST00000373287.8:c.779C>T | ENSP00000362384.4:p.Thr260Ile | |
| ENST00000471447.5:n.461C>T | ||
| ENST00000485051.1:n.457C>T | ||
| ENST00000627550.2:c.779C>T | ENSP00000486597.1:p.Thr260Ile | |
| NM_001282983.1:c.779C>T | NP_001269912.1:p.Thr260Ile | |
| NM_001282984.1:c.779C>T | NP_001269913.1:p.Thr260Ile | |
| NM_014808.3:c.779C>T | NP_055623.1:p.Thr260Ile | |
| XM_005247050.3:c.779C>T | XP_005247107.1:p.Thr260Ile | |
| XM_011512233.1:c.779C>T | XP_011510535.1:p.Thr260Ile | |
| XM_011512234.1:c.779C>T | XP_011510536.1:p.Thr260Ile | |
| XM_011512235.1:c.632C>T | XP_011510537.1:p.Thr211Ile | |
| XM_011512236.1:c.521C>T | XP_011510538.1:p.Thr174Ile | |
| XM_011512237.1:c.521C>T | XP_011510539.1:p.Thr174Ile | |
| XM_017005417.1:c.632C>T | XP_016860906.1:p.Thr211Ile | |
| XM_017005419.2:c.779C>T | XP_016860908.1:p.Thr260Ile | |
| XM_017005420.1:c.779C>T | XP_016860909.1:p.Thr260Ile | |
| XM_024453259.1:c.779C>T | XP_024309027.1:p.Thr260Ile | |
| NM_014808.4:c.779C>T MANE Select | NP_055623.1:p.Thr260Ile | |
| NM_001282983.2:c.779C>T | NP_001269912.1:p.Thr260Ile | |
| NM_001282984.2:c.779C>T | NP_001269913.1:p.Thr260Ile |