Revel Score:
ENST00000448525
0.968
ENST00000262318
0.968
ENST00000382745 (MANE Select)
0.968
ENST00000428756
0.968
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008573 (AMR)
Genomes Max Group AF
0.00012869 (AMR)
Exomes Max Group AF
0.00003491 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1456172C>T , CM000678.2:g.1456172C>T | GRCh38 |
| NC_000016.9:g.1506173C>T , CM000678.1:g.1506173C>T | GRCh37 |
| NC_000016.8:g.1446174C>T | NCBI36 |
| NG_007567.1:g.23913G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.857G>A | ENSP00000514703.1:p.Arg286Gln | |
| ENST00000699948.1:c.857G>A | ENSP00000514704.1:p.Arg286Gln | |
| ENST00000699950.1:n.809G>A | ||
| ENST00000382745.9:c.857G>A MANE Select | ENSP00000372193.4:p.Arg286Gln | |
| ENST00000262318.12:c.785G>A | ENSP00000262318.8:p.Arg262Gln | |
| ENST00000382745.8:c.857G>A | ENSP00000372193.4:p.Arg286Gln | |
| ENST00000448525.5:c.785G>A | ENSP00000410907.1:p.Arg262Gln | |
| ENST00000563822.1:n.488G>A | ||
| NM_001114331.2:c.785G>A | NP_001107803.1:p.Arg262Gln | |
| NM_001287.5:c.857G>A | NP_001278.1:p.Arg286Gln | |
| XM_011522354.1:c.683G>A | XP_011520656.1:p.Arg228Gln | |
| NM_001287.6:c.857G>A MANE Select | NP_001278.1:p.Arg286Gln | |
| NM_001114331.3:c.785G>A | NP_001107803.1:p.Arg262Gln |