Revel Score:
ENST00000321612 (MANE Select)
0.936
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002476 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00002118 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6554768C>T , CM000671.2:g.6554768C>T | GRCh38 |
| NC_000009.11:g.6554768C>T , CM000671.1:g.6554768C>T | GRCh37 |
| NC_000009.10:g.6544768C>T | NCBI36 |
| NG_016397.1:g.95925G>A , LRG_643:g.95925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2216G>A MANE Select | ENSP00000370737.4:p.Arg739His | |
| ENST00000638233.1:n.651G>A | ||
| ENST00000638661.1:c.416G>A | ENSP00000491369.1:p.Arg139His | |
| ENST00000638694.1:n.403G>A | ||
| ENST00000639318.1:c.416G>A | ENSP00000491932.1:p.Arg139His | |
| ENST00000639364.1:n.1916G>A | ||
| ENST00000639443.1:n.1784G>A | ||
| ENST00000639639.1:c.-83G>A | ENSP00000491312.1:n.-83G>A | |
| ENST00000639954.1:n.1924G>A | ||
| ENST00000640505.1:n.455G>A | ||
| ENST00000321612.6:c.2216G>A | ENSP00000370737.3:p.Arg739His | |
| ENST00000467946.1:n.142G>A | ||
| NM_000170.2:c.2216G>A , LRG_643t1:c.2216G>A | NP_000161.2:p.Arg739His | |
| NM_000170.3:c.2216G>A MANE Select | NP_000161.2:p.Arg739His |