Revel Score:
ENST00000409855
0.176
ENST00000259060
0.176
ENST00000419992
0.176
ENST00000441411
0.176
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001757 (AFR)
Genomes Max Group AF
0.00001925 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166477575G>A , CM000664.2:g.166477575G>A | GRCh38 |
| NC_000002.11:g.167334085G>A , CM000664.1:g.167334085G>A | GRCh37 |
| NC_000002.10:g.167042331G>A | NCBI36 |
| NG_031928.1:g.14397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419992.6:c.122C>T | ENSP00000413699.2:p.Thr41Ile | |
| ENST00000441411.2:c.122C>T | ENSP00000403846.2:p.Thr41Ile | |
| ENST00000643258.1:c.122C>T MANE Select | ENSP00000496114.1:p.Thr41Ile | |
| ENST00000650747.1:c.122C>T | ENSP00000498959.1:p.Thr41Ile | |
| ENST00000409855.5:c.122C>T | ENSP00000386796.1:p.Thr41Ile | |
| ENST00000419992.5:c.122C>T | ENSP00000413699.1:p.Thr41Ile | |
| ENST00000424326.5:c.122C>T | ENSP00000396600.1:p.Thr41Ile | |
| ENST00000441411.1:c.122C>T | ENSP00000403846.1:p.Thr41Ile | |
| ENST00000619410.4:c.122C>T | ENSP00000478562.1:p.Thr41Ile | |
| ENST00000621965.4:c.122C>T | ENSP00000481734.1:p.Thr41Ile | |
| NM_002976.3:c.122C>T | NP_002967.2:p.Thr41Ile | |
| NR_045628.1:n.252C>T | ||
| XM_006712680.1:c.122C>T | XP_006712743.1:p.Thr41Ile | |
| XM_006712681.2:c.122C>T | XP_006712744.1:p.Thr41Ile | |
| XM_006712682.2:c.122C>T | XP_006712745.1:p.Thr41Ile | |
| XM_011511615.1:c.122C>T | XP_011509917.1:p.Thr41Ile | |
| XM_006712680.2:c.122C>T | XP_006712743.1:p.Thr41Ile | |
| XM_006712681.3:c.122C>T | XP_006712744.1:p.Thr41Ile | |
| XM_006712682.3:c.122C>T | XP_006712745.1:p.Thr41Ile | |
| XM_011511615.2:c.122C>T | XP_011509917.1:p.Thr41Ile | |
| XM_017004667.1:c.122C>T | XP_016860156.1:p.Thr41Ile | |
| NM_002976.4:c.122C>T MANE Select | NP_002967.2:p.Thr41Ile |