Revel Score:
ENST00000552371
0.012
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002665 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002625 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57490621G>A , CM000674.2:g.57490621G>A | GRCh38 |
| NC_000012.11:g.57884404G>A , CM000674.1:g.57884404G>A | GRCh37 |
| NC_000012.10:g.56170671G>A | NCBI36 |
| NG_034077.1:g.7669G>A | |
| NG_023205.2:g.3194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.747G>A MANE Select | ENSP00000262027.5:p.Pro249= | |
| ENST00000262027.9:c.747G>A | ENSP00000262027.5:p.Pro249= | |
| ENST00000447721.6:n.389G>A | ||
| ENST00000537638.6:c.747G>A | ENSP00000446168.2:p.Pro249= | |
| ENST00000545888.6:c.*248G>A | ENSP00000439307.2:n.*248G>A | |
| ENST00000548674.5:n.641G>A | ||
| ENST00000549074.5:c.*112G>A | ENSP00000447258.1:n.*112G>A | |
| ENST00000551431.5:c.*248G>A | ENSP00000446729.1:n.*248G>A | |
| ENST00000551892.1:c.*112G>A | ENSP00000450018.1:n.*112G>A | |
| ENST00000552371.1:c.362G>A | ||
| ENST00000628866.2:c.*248G>A | ENSP00000486738.1:n.*248G>A | |
| NM_004990.3:c.747G>A | NP_004981.2:p.Pro249= | |
| XM_006719398.2:c.45G>A | XP_006719461.1:p.Pro15= | |
| XM_011538353.1:c.747G>A | XP_011536655.1:p.Pro249= | |
| XM_006719398.4:c.45G>A | XP_006719461.1:p.Pro15= | |
| XR_001748704.2:n.770G>A | ||
| XR_002957327.1:n.694G>A | ||
| NM_004990.4:c.747G>A MANE Select | NP_004981.2:p.Pro249= |