Revel Score:
ENST00000346342 (MANE Select)
0.387
ENST00000541084
0.387
ENST00000375581
0.387
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118845G>T , CM000675.2:g.113118845G>T | GRCh38 |
| NC_000013.10:g.113773159G>T , CM000675.1:g.113773159G>T | GRCh37 |
| NC_000013.9:g.112821160G>T | NCBI36 |
| NG_009258.1:g.1047G>T , LRG_548:g.1047G>T | |
| NG_009262.1:g.18055G>T , LRG_554:g.18055G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1172G>T MANE Select | ENSP00000329546.4:p.Arg391Leu | |
| ENST00000346342.7:c.1172G>T | ENSP00000329546.3:p.Arg391Leu | |
| ENST00000375581.3:c.1238G>T | ENSP00000364731.3:p.Arg413Leu | |
| ENST00000541084.5:c.986G>T | ENSP00000442051.2:p.Arg329Leu | |
| NM_000131.4:c.1238G>T , LRG_554t1:c.1238G>T | NP_000122.1:p.Arg413Leu | |
| NM_001267554.1:c.986G>T | NP_001254483.1:p.Arg329Leu | |
| NM_019616.3:c.1172G>T , LRG_554t2:c.1172G>T | NP_062562.1:p.Arg391Leu | |
| NR_051961.1:n.1259G>T | ||
| XM_006719963.2:c.1031G>T | XP_006720026.1:p.Arg344Leu | |
| XM_011537474.1:c.1280G>T | XP_011535776.1:p.Arg427Leu | |
| XM_011537475.1:c.1094G>T | XP_011535777.1:p.Arg365Leu | |
| XM_011537476.1:c.932G>T | XP_011535778.1:p.Arg311Leu | |
| XM_011537477.1:c.1241G>T | XP_011535779.1:p.Arg414Leu | |
| XM_006719963.3:c.1076G>T | XP_006720026.2:p.Arg359Leu | |
| XM_011537474.2:c.1325G>T | XP_011535776.2:p.Arg442Leu | |
| XM_011537475.2:c.1139G>T | XP_011535777.2:p.Arg380Leu | |
| XM_011537476.2:c.932G>T | XP_011535778.1:p.Arg311Leu | |
| NM_019616.4:c.1172G>T MANE Select | NP_062562.1:p.Arg391Leu | |
| NR_051961.2:n.1256G>T | ||
| NM_001267554.2:c.986G>T | NP_001254483.1:p.Arg329Leu |