Revel Score:
ENST00000265631 (MANE Select)
0.754
ENST00000416240
0.754
ENST00000542654
0.754
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012016 (EAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00013742 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96131829G>A , CM000669.2:g.96131829G>A | GRCh38 |
| NC_000007.13:g.95761141G>A , CM000669.1:g.95761141G>A | GRCh37 |
| NC_000007.12:g.95599077G>A | NCBI36 |
| NG_012247.1:g.195319C>T | |
| NG_012247.2:g.195319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1505C>T MANE Select | ENSP00000265631.6:p.Pro502Leu | |
| ENST00000265631.9:c.1505C>T | ENSP00000265631.5:p.Pro502Leu | |
| ENST00000416240.6:c.1508C>T | ENSP00000400101.2:p.Pro503Leu | |
| NM_001160210.1:c.1508C>T | NP_001153682.1:p.Pro503Leu | |
| NM_014251.2:c.1505C>T | NP_055066.1:p.Pro502Leu | |
| NR_027662.1:n.1580C>T | ||
| XM_006715831.2:c.1538C>T | XP_006715894.1:p.Pro513Leu | |
| XM_011515728.1:c.653C>T | XP_011514030.1:p.Pro218Leu | |
| XM_006715831.4:c.1538C>T | XP_006715894.1:p.Pro513Leu | |
| XM_017011663.1:c.1496C>T | XP_016867152.1:p.Pro499Leu | |
| XM_017011664.2:c.653C>T | XP_016867153.1:p.Pro218Leu | |
| XM_017011665.1:c.653C>T | XP_016867154.1:p.Pro218Leu | |
| XR_001744525.2:n.1751C>T | ||
| XR_002956405.1:n.2309C>T | ||
| NM_014251.3:c.1505C>T MANE Select | NP_055066.1:p.Pro502Leu | |
| NR_027662.2:n.1531C>T | ||
| NM_001160210.2:c.1508C>T | NP_001153682.1:p.Pro503Leu |