Revel Score:
ENST00000334128
0.090
ENST00000428798 (MANE Select)
0.090
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184036506G>T , CM000665.2:g.184036506G>T | GRCh38 |
| NC_000003.11:g.183754294G>T , CM000665.1:g.183754294G>T | GRCh37 |
| NC_000003.10:g.185236988G>T | NCBI36 |
| NG_012750.1:g.9963G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428798.7:c.329G>T MANE Select | ENSP00000405409.2:p.Gly110Val | |
| ENST00000334128.6:c.107G>T | ENSP00000334315.2:p.Gly36Val | |
| ENST00000382489.3:c.511+1G>T | ENSP00000371929.3:n.511+1G>T | |
| ENST00000428798.6:c.329G>T | ENSP00000405409.2:p.Gly110Val | |
| ENST00000453435.1:c.3+1284G>T | ENSP00000389268.1:n.3+1284G>T | |
| NM_001145143.1:c.329G>T MANE Select | NP_001138615.1:p.Gly110Val | |
| NM_001163646.1:c.511+1G>T | NP_001157118.1:n.511+1G>T | |
| NM_182537.2:c.107G>T | NP_872343.2:p.Gly36Val | |
| XM_017005854.1:c.3+1284G>T | XP_016861343.1:n.3+1284G>T | |
| NM_001163646.2:c.511+1G>T | NP_001157118.1:n.511+1G>T | |
| NM_182537.3:c.107G>T | NP_872343.2:p.Gly36Val |