Revel Score:
ENST00000409483
0.034
ENST00000389413
0.034
ENST00000389416
0.034
ENST00000389418 (MANE Select)
0.034
ENST00000404321
0.034
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3423086 (AFR)
Genomes Max Group AF
0.3380187 (AFR)
Exomes Max Group AF
0.34465301 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.158192457C>G , CM000669.2:g.158192457C>G | GRCh38 |
| NC_000007.13:g.157985149C>G , CM000669.1:g.157985149C>G | GRCh37 |
| NC_000007.12:g.157677910C>G | NCBI36 |
| NG_029966.1:g.400334G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389418.9:c.419G>C MANE Select | ENSP00000374069.4:p.Ser140Thr | |
| ENST00000389413.7:c.419G>C | ENSP00000374064.3:p.Ser140Thr | |
| ENST00000389416.8:c.368G>C | ENSP00000374067.4:p.Ser123Thr | |
| ENST00000389418.8:c.419G>C | ENSP00000374069.4:p.Ser140Thr | |
| ENST00000404321.3:c.146G>C | ENSP00000385464.3:p.Ser49Thr | |
| ENST00000409483.5:c.305G>C | ENSP00000387114.1:p.Ser102Thr | |
| NM_001308267.1:c.305G>C | NP_001295196.1:p.Ser102Thr | |
| NM_001308268.1:c.488G>C | NP_001295197.1:p.Ser163Thr | |
| NM_002847.3:c.419G>C | NP_002838.2:p.Ser140Thr | |
| NM_002847.4:c.419G>C | NP_002838.2:p.Ser140Thr | |
| NM_130842.2:c.368G>C | NP_570857.2:p.Ser123Thr | |
| NM_130842.3:c.368G>C | NP_570857.2:p.Ser123Thr | |
| NM_130843.2:c.419G>C | NP_570858.2:p.Ser140Thr | |
| NM_130843.3:c.419G>C | NP_570858.2:p.Ser140Thr | |
| XM_011516446.1:c.419G>C | XP_011514748.1:p.Ser140Thr | |
| XM_011516447.1:c.419G>C | XP_011514749.1:p.Ser140Thr | |
| XM_011516448.1:c.419G>C | XP_011514750.1:p.Ser140Thr | |
| XM_011516449.1:c.419G>C | XP_011514751.1:p.Ser140Thr | |
| XM_011516447.2:c.419G>C | XP_011514749.1:p.Ser140Thr | |
| XM_011516448.3:c.419G>C | XP_011514750.1:p.Ser140Thr | |
| XM_011516449.2:c.419G>C | XP_011514751.1:p.Ser140Thr | |
| XM_017012475.1:c.221G>C | XP_016867964.1:p.Ser74Thr | |
| XM_017012476.1:c.419G>C | XP_016867965.1:p.Ser140Thr | |
| NM_002847.5:c.419G>C MANE Select | NP_002838.2:p.Ser140Thr | |
| NM_001308267.2:c.305G>C | NP_001295196.1:p.Ser102Thr | |
| NM_130842.4:c.368G>C | NP_570857.2:p.Ser123Thr | |
| NM_130843.4:c.419G>C | NP_570858.2:p.Ser140Thr | |
| NM_001308268.2:c.488G>C | NP_001295197.1:p.Ser163Thr |