dbSNP:
gnomAD v2:
Revel Score:
ENST00000463117
0.208
ENST00000541261
0.208
ENST00000252945 (MANE Select)
0.208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133528530G>T , CM000672.2:g.133528530G>T | GRCh38 |
| NC_000010.10:g.135342034G>T , CM000672.1:g.135342034G>T | GRCh37 |
| NC_000010.9:g.135192024G>T | NCBI36 |
| NG_008383.1:g.6168G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.227G>T MANE Select | ENSP00000252945.3:p.Arg76Leu | |
| ENST00000252945.7:c.227G>T | ENSP00000252945.3:p.Arg76Leu | |
| ENST00000418356.1:c.76+958G>T | ENSP00000397299.1:n.76+958G>T | |
| ENST00000421586.5:c.76+958G>T | ENSP00000412754.1:n.76+958G>T | |
| ENST00000463117.6:c.227G>T | ENSP00000440689.1:p.Arg76Leu | |
| ENST00000477500.5:n.188G>T | ||
| ENST00000480558.1:n.452G>T | ||
| ENST00000541080.5:c.76+958G>T | ||
| ENST00000541261.1:c.227G>T | ENSP00000437799.1:p.Arg76Leu | |
| NM_000773.3:c.227G>T | NP_000764.1:p.Arg76Leu | |
| NM_000773.4:c.227G>T MANE Select | NP_000764.1:p.Arg76Leu |