COSMIC:
COSM6023265 (not active)
Revel Score:
ENST00000335251 (MANE Select)
0.007
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00896744 (SAS)
Genomes Max Group AF
0.00572235 (SAS)
Exomes Max Group AF
0.00905199 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127687772G>A , CM000666.2:g.127687772G>A | GRCh38 |
| NC_000004.11:g.128608927G>A , CM000666.1:g.128608927G>A | GRCh37 |
| NC_000004.10:g.128828377G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335251.11:c.1354G>A MANE Select | ENSP00000334003.5:p.Ala452Thr | |
| ENST00000335251.10:c.1354G>A | ENSP00000334003.5:p.Ala452Thr | |
| ENST00000503626.5:c.*2621G>A | ENSP00000426287.1:n.*2621G>A | |
| ENST00000503952.5:c.*111G>A | ENSP00000421995.1:n.*111G>A | |
| NM_015693.3:c.1354G>A | NP_056508.2:p.Ala452Thr | |
| XM_011531844.1:c.1351G>A | XP_011530146.1:p.Ala451Thr | |
| XM_011531845.1:c.1354G>A | XP_011530147.1:p.Ala452Thr | |
| XM_011531846.1:c.1297G>A | XP_011530148.1:p.Ala433Thr | |
| XM_011531847.1:c.358G>A | XP_011530149.1:p.Ala120Thr | |
| XM_011531848.1:c.148G>A | XP_011530150.1:p.Ala50Thr | |
| XM_011531849.1:c.1354G>A | XP_011530151.1:p.Ala452Thr | |
| XM_011531850.1:c.1354G>A | XP_011530152.1:p.Ala452Thr | |
| XM_011531851.1:c.1354G>A | XP_011530153.1:p.Ala452Thr | |
| XR_938720.1:n.1457G>A | ||
| XM_011531844.3:c.1351G>A | XP_011530146.1:p.Ala451Thr | |
| XM_011531845.3:c.1354G>A | XP_011530147.1:p.Ala452Thr | |
| XM_011531848.2:c.148G>A | XP_011530150.1:p.Ala50Thr | |
| XM_011531849.3:c.1354G>A | XP_011530151.1:p.Ala452Thr | |
| XM_011531850.3:c.1354G>A | XP_011530152.1:p.Ala452Thr | |
| XM_011531851.3:c.1354G>A | XP_011530153.1:p.Ala452Thr | |
| XM_017008025.1:c.358G>A | XP_016863514.1:p.Ala120Thr | |
| XM_017008026.2:c.1354G>A | XP_016863515.1:p.Ala452Thr | |
| XR_001741201.1:n.1429G>A | ||
| NM_015693.4:c.1354G>A MANE Select | NP_056508.2:p.Ala452Thr |