dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0001097 (SAS)
Exomes Max Group AF
0.00011549 (SAS)
Revel Score:
ENST00000375631 (MANE Select)
0.332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860563C>A , CM000668.2:g.31860563C>A | GRCh38 |
| NC_000006.11:g.31828340C>A , CM000668.1:g.31828340C>A | GRCh37 |
| NC_000006.10:g.31936319C>A | NCBI36 |
| NG_008201.1:g.7370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.674G>T MANE Select | ENSP00000364782.4:p.Arg225Leu | |
| ENST00000677054.1:n.1917G>T | ||
| ENST00000677512.1:n.782G>T | ||
| ENST00000678869.1:n.1348G>T | ||
| ENST00000375631.4:c.674G>T | ENSP00000364782.4:p.Arg225Leu | |
| ENST00000480384.1:n.703G>T | ||
| ENST00000491768.5:c.674G>T | ENSP00000433127.1:p.Arg225Leu | |
| ENST00000495807.1:n.1808G>T | ||
| NM_000434.3:c.674G>T | NP_000425.1:p.Arg225Leu | |
| NM_000434.4:c.674G>T MANE Select | NP_000425.1:p.Arg225Leu |