Revel Score:
ENST00000406516
0.756
ENST00000444929
0.756
ENST00000331728 (MANE Select)
0.756
ENST00000436394
0.756
ENST00000333611
0.756
ENST00000340552
0.756
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31267789G>T , CM000684.2:g.31267789G>T | GRCh38 |
| NC_000022.10:g.31663775G>T , CM000684.1:g.31663775G>T | GRCh37 |
| NC_000022.9:g.29993775G>T | NCBI36 |
| NG_029895.1:g.60526G>T | |
| NG_029895.2:g.60526G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331728.9:c.1142G>T MANE Select | ENSP00000332687.4:p.Arg381Leu | |
| ENST00000331728.8:c.1142G>T | ENSP00000332687.4:p.Arg381Leu | |
| ENST00000333611.8:c.1079G>T | ENSP00000330470.4:p.Arg360Leu | |
| ENST00000340552.4:c.1079G>T | ENSP00000339916.4:p.Arg360Leu | |
| ENST00000406516.5:c.908G>T | ENSP00000384602.1:p.Arg303Leu | |
| NM_001031801.1:c.1079G>T | NP_001026971.1:p.Arg360Leu | |
| NM_005569.3:c.1142G>T | NP_005560.1:p.Arg381Leu | |
| NM_016733.2:c.1079G>T | NP_057952.1:p.Arg360Leu | |
| NM_005569.4:c.1142G>T MANE Select | NP_005560.1:p.Arg381Leu | |
| NM_001031801.2:c.1079G>T | NP_001026971.1:p.Arg360Leu | |
| NM_016733.3:c.1079G>T | NP_057952.1:p.Arg360Leu |