Revel Score:
ENST00000547665
0.031
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00272951 (MID)
Genomes Max Group AF
0.00081253 (AMR)
Exomes Max Group AF
0.00272489 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57515336A>C , CM000674.2:g.57515336A>C | GRCh38 |
| NC_000012.11:g.57909119A>C , CM000674.1:g.57909119A>C | GRCh37 |
| NC_000012.10:g.56195386A>C | NCBI36 |
| NG_027674.1:g.10182T>G | |
| NG_034077.1:g.32384A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.2391A>C MANE Select | ENSP00000262027.5:p.Thr797= | |
| ENST00000262027.9:c.2391A>C | ENSP00000262027.5:p.Thr797= | |
| ENST00000537638.6:c.*683A>C | ENSP00000446168.2:n.*683A>C | |
| ENST00000545888.6:c.*1892A>C | ENSP00000439307.2:n.*1892A>C | |
| ENST00000547665.5:c.187A>C | ||
| ENST00000548944.1:c.134-1159A>C | ENSP00000449071.1:n.134-1159A>C | |
| ENST00000551172.1:c.154A>C | ||
| ENST00000551805.1:n.322A>C | ||
| ENST00000552499.5:c.156A>C | ENSP00000447335.1:p.Thr52= | |
| ENST00000552914.5:c.348A>C | ENSP00000449787.1:p.Thr116= | |
| ENST00000628866.2:c.*1892A>C | ENSP00000486738.1:n.*1892A>C | |
| NM_004990.3:c.2391A>C | NP_004981.2:p.Thr797= | |
| XM_006719398.2:c.1689A>C | XP_006719461.1:p.Thr563= | |
| XM_006719398.4:c.1689A>C | XP_006719461.1:p.Thr563= | |
| XR_001748704.2:n.2347A>C | ||
| XR_002957327.1:n.2338A>C | ||
| NM_004990.4:c.2391A>C MANE Select | NP_004981.2:p.Thr797= |