Revel Score:
ENST00000374472 (MANE Select)
0.112
ENST00000536471
0.112
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00466137 (NFE)
Genomes Max Group AF
0.00377478 (NFE)
Exomes Max Group AF
0.00469397 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23875221G>T , CM000663.2:g.23875221G>T | GRCh38 |
| NC_000001.10:g.24201711G>T , CM000663.1:g.24201711G>T | GRCh37 |
| NC_000001.9:g.24074298G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374472.5:c.397C>A MANE Select | ENSP00000363596.4:p.Leu133Ile | |
| ENST00000374472.4:c.397C>A | ENSP00000363596.4:p.Leu133Ile | |
| NM_001841.2:c.397C>A | NP_001832.1:p.Leu133Ile | |
| XM_005245736.3:c.397C>A | XP_005245793.1:p.Leu133Ile | |
| XM_011540627.1:c.397C>A | XP_011538929.1:p.Leu133Ile | |
| XM_011540628.1:c.397C>A | XP_011538930.1:p.Leu133Ile | |
| XM_011540629.1:c.397C>A | XP_011538931.1:p.Leu133Ile | |
| XM_011540629.3:c.397C>A | XP_011538931.1:p.Leu133Ile | |
| XM_017000261.2:c.397C>A | XP_016855750.1:p.Leu133Ile | |
| NM_001841.3:c.397C>A MANE Select | NP_001832.1:p.Leu133Ile |