Revel Score:
ENST00000330883
0.689
ENST00000392968
0.689
ENST00000262186 (MANE Select)
0.689
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002563 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
Exomes Max Group AF
0.00001022 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150945375G>A , CM000669.2:g.150945375G>A | GRCh38 |
| NC_000007.13:g.150642463G>A , CM000669.1:g.150642463G>A | GRCh37 |
| NC_000007.12:g.150273396G>A | NCBI36 |
| NG_008916.1:g.37552C>T , LRG_288:g.37552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.4303C>T | ||
| ENST00000262186.10:c.3470C>T MANE Select | ENSP00000262186.5:p.Pro1157Leu | |
| ENST00000330883.9:c.2450C>T | ENSP00000328531.4:p.Pro817Leu | |
| ENST00000262186.9:c.3470C>T | ENSP00000262186.5:p.Pro1157Leu | |
| ENST00000330883.8:c.2450C>T | ENSP00000328531.4:p.Pro817Leu | |
| NM_000238.3:c.3470C>T , LRG_288t1:c.3470C>T | NP_000229.1:p.Pro1157Leu | |
| NM_172057.2:c.2450C>T , LRG_288t3:c.2450C>T | NP_742054.1:p.Pro817Leu | |
| XM_011516185.1:c.3170C>T | XP_011514487.1:p.Pro1057Leu | |
| XM_011516185.2:c.3170C>T | XP_011514487.1:p.Pro1057Leu | |
| XM_017012195.1:c.3320C>T | XP_016867684.1:p.Pro1107Leu | |
| XM_017012196.1:c.3293C>T | XP_016867685.1:p.Pro1098Leu | |
| NM_000238.4:c.3470C>T MANE Select | NP_000229.1:p.Pro1157Leu | |
| NM_172057.3:c.2450C>T | NP_742054.1:p.Pro817Leu |