Revel Score:
ENST00000320393 (MANE Select)
0.787
ENST00000356489
0.787
ENST00000541767
0.787
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80273199C>T , CM000668.2:g.80273199C>T | GRCh38 |
| NC_000006.11:g.80982916C>T , CM000668.1:g.80982916C>T | GRCh37 |
| NC_000006.10:g.81039635C>T | NCBI36 |
| NG_009775.1:g.171573C>T | |
| NG_009775.2:g.171573C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.1016C>T MANE Select | ENSP00000318351.5:p.Ser339Leu | |
| ENST00000320393.8:c.1016C>T | ENSP00000318351.5:p.Ser339Leu | |
| ENST00000356489.9:c.1016C>T | ENSP00000348880.5:p.Ser339Leu | |
| NM_000056.3:c.1016C>T | NP_000047.1:p.Ser339Leu | |
| NM_183050.2:c.1016C>T | NP_898871.1:p.Ser339Leu | |
| XM_005248756.3:c.1016C>T | XP_005248813.1:p.Ser339Leu | |
| XM_006715542.2:c.806C>T | XP_006715605.1:p.Ser269Leu | |
| XM_011536023.1:c.1016C>T | XP_011534325.1:p.Ser339Leu | |
| XM_011536024.1:c.1016C>T | XP_011534326.1:p.Ser339Leu | |
| XM_011536025.1:c.1016C>T | XP_011534327.1:p.Ser339Leu | |
| XM_011536026.1:c.806C>T | XP_011534328.1:p.Ser269Leu | |
| NM_000056.4:c.1016C>T | NP_000047.1:p.Ser339Leu | |
| NM_001318975.1:c.806C>T | NP_001305904.1:p.Ser269Leu | |
| NM_183050.3:c.1016C>T | NP_898871.1:p.Ser339Leu | |
| NR_134945.1:n.1194C>T | ||
| XM_005248756.5:c.1016C>T | XP_005248813.1:p.Ser339Leu | |
| XM_011536023.3:c.1016C>T | XP_011534325.1:p.Ser339Leu | |
| XM_011536024.3:c.1016C>T | XP_011534326.1:p.Ser339Leu | |
| XM_011536025.3:c.1016C>T | XP_011534327.1:p.Ser339Leu | |
| XR_001743546.2:n.1046C>T | ||
| XR_001743547.2:n.1046C>T | ||
| XR_001743548.2:n.1046C>T | ||
| XR_001743549.2:n.1046C>T | ||
| XR_002956292.1:n.1046C>T | ||
| NM_183050.4:c.1016C>T MANE Select | NP_898871.1:p.Ser339Leu | |
| NR_134945.2:n.1133C>T | ||
| NM_000056.5:c.1016C>T | NP_000047.1:p.Ser339Leu |