Revel Score:
ENST00000275532
0.422
ENST00000443322
0.422
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016042 (NFE)
Genomes Max Group AF
0.00007907 (NFE)
Exomes Max Group AF
0.00016115 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638300G>T , CM000669.2:g.66638300G>T | GRCh38 |
| NC_000007.13:g.66103287G>T , CM000669.1:g.66103287G>T | GRCh37 |
| NC_000007.12:g.65740722G>T | NCBI36 |
| NG_028110.1:g.14420G>T | |
| NG_028110.2:g.14420G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.362G>T | ENSP00000275532.4:p.Arg121Leu | |
| ENST00000449064.6:c.340G>T | ||
| ENST00000503687.2:c.192G>T | ENSP00000421074.1:p.Ala64= | |
| ENST00000638524.1:c.187G>T | ||
| ENST00000638540.1:c.166G>T | ||
| ENST00000639828.2:c.362G>T MANE Select | ENSP00000492240.1:p.Arg121Leu | |
| ENST00000639879.1:c.362G>T | ENSP00000492161.1:p.Arg121Leu | |
| ENST00000640234.1:c.232G>T | ||
| ENST00000640385.1:c.362G>T | ENSP00000491193.1:p.Arg121Leu | |
| ENST00000640851.1:c.362G>T | ENSP00000492577.1:p.Arg121Leu | |
| ENST00000275532.7:c.362G>T | ENSP00000275532.3:p.Arg121Leu | |
| ENST00000443322.1:c.362G>T | ENSP00000411624.1:p.Arg121Leu | |
| ENST00000449064.5:c.192G>T | ENSP00000388463.1:p.Ala64= | |
| ENST00000503687.1:c.192G>T | ENSP00000421074.1:p.Ala64= | |
| NM_001167961.2:c.362G>T | NP_001161433.1:p.Arg121Leu | |
| NM_153033.4:c.362G>T | NP_694578.1:p.Arg121Leu | |
| NM_153033.5:c.362G>T MANE Select | NP_694578.1:p.Arg121Leu |