Revel Score:
ENST00000392968
0.545
ENST00000262186 (MANE Select)
0.545
ENST00000430723
0.545
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00248711 (SAS)
Genomes Max Group AF
0.00097123 (SAS)
Exomes Max Group AF
0.00252711 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957380G>A , CM000669.2:g.150957380G>A | GRCh38 |
| NC_000007.13:g.150654468G>A , CM000669.1:g.150654468G>A | GRCh37 |
| NC_000007.12:g.150285401G>A | NCBI36 |
| NG_008916.1:g.25547C>T , LRG_288:g.25547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1872C>T | ||
| ENST00000262186.10:c.1039C>T MANE Select | ENSP00000262186.5:p.Pro347Ser | |
| ENST00000262186.9:c.1039C>T | ENSP00000262186.5:p.Pro347Ser | |
| ENST00000430723.4:c.691C>T | ENSP00000387657.4:p.Pro231Ser | |
| ENST00000532957.5:n.1262C>T | ||
| NM_000238.3:c.1039C>T , LRG_288t1:c.1039C>T | NP_000229.1:p.Pro347Ser | |
| NM_172056.2:c.1039C>T , LRG_288t2:c.1039C>T | NP_742053.1:p.Pro347Ser | |
| XM_011516185.1:c.739C>T | XP_011514487.1:p.Pro247Ser | |
| XM_011516186.1:c.1039C>T | XP_011514488.1:p.Pro347Ser | |
| XM_011516185.2:c.739C>T | XP_011514487.1:p.Pro247Ser | |
| XM_011516186.3:c.1039C>T | XP_011514488.1:p.Pro347Ser | |
| XM_017012195.1:c.889C>T | XP_016867684.1:p.Pro297Ser | |
| XM_017012196.1:c.862C>T | XP_016867685.1:p.Pro288Ser | |
| NM_000238.4:c.1039C>T MANE Select | NP_000229.1:p.Pro347Ser |