Revel Score:
ENST00000318749
0.117
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19838189 (AFR)
Genomes Max Group AF
0.19593687 (AFR)
Exomes Max Group AF
0.19907918 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247451105G>A , CM000663.2:g.247451105G>A | GRCh38 |
| NC_000001.10:g.247614407G>A , CM000663.1:g.247614407G>A | GRCh37 |
| NC_000001.9:g.245681030G>A | NCBI36 |
| NG_007509.2:g.39933G>A , LRG_197:g.39933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641149.2:c.878C>T MANE Select | ENSP00000492892.1:p.Thr293Ile | |
| ENST00000318749.8:c.878C>T | ENSP00000325682.6:p.Thr293Ile | |
| ENST00000641149.1:c.878C>T | ENSP00000492892.1:p.Thr293Ile | |
| ENST00000641527.1:c.878C>T | ENSP00000493421.1:p.Thr293Ile | |
| ENST00000641613.1:n.1532C>T | ||
| ENST00000318749.7:c.878C>T | ENSP00000325682.6:p.Thr293Ile | |
| NM_001004492.1:c.878C>T | NP_001004492.1:p.Thr293Ile | |
| NM_001004492.2:c.878C>T MANE Select | NP_001004492.1:p.Thr293Ile | |
| NR_169840.1:n.1532C>T |