Revel Score:
ENST00000269143 (MANE Select)
0.281
ENST00000537174
0.281
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00044263 (EAS)
Genomes Max Group AF
0.00006813 (EAS)
Exomes Max Group AF
0.00045853 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12360045C>T , CM000680.2:g.12360045C>T | GRCh38 |
| NC_000018.9:g.12360044C>T , CM000680.1:g.12360044C>T | GRCh37 |
| NC_000018.8:g.12350044C>T | NCBI36 |
| NG_023361.1:g.22232G>A , LRG_666:g.22232G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*230G>A | ENSP00000508998.1:n.*230G>A | |
| ENST00000688199.1:c.634G>A | ENSP00000510237.1:p.Val212Ile | |
| ENST00000691179.1:c.559G>A | ENSP00000509010.1:p.Val187Ile | |
| ENST00000691970.1:c.*11G>A | ENSP00000508440.1:n.*11G>A | |
| ENST00000692497.1:c.634G>A | ENSP00000509870.1:p.Val212Ile | |
| ENST00000692988.1:n.452G>A | ||
| ENST00000269143.8:c.634G>A MANE Select | ENSP00000269143.2:p.Val212Ile | |
| ENST00000269143.7:c.634G>A | ENSP00000269143.2:p.Val212Ile | |
| ENST00000590811.1:c.269G>A | ||
| ENST00000591848.1:n.189G>A | ||
| NM_006796.2:c.634G>A , LRG_666t1:c.634G>A | NP_006787.2:p.Val212Ile | |
| XM_011525601.1:c.634G>A | XP_011523903.1:p.Val212Ile | |
| XM_011525601.3:c.634G>A | XP_011523903.1:p.Val212Ile | |
| NM_006796.3:c.634G>A MANE Select | NP_006787.2:p.Val212Ile |