Revel Score:
ENST00000356231 (MANE Select)
0.798
ENST00000267892
0.798
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002549 (AFR)
Genomes Max Group AF
0.00007282 (SAS)
Exomes Max Group AF
0.00002082 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42725550G>A , CM000677.2:g.42725550G>A | GRCh38 |
| NC_000015.9:g.43017748G>A , CM000677.1:g.43017748G>A | GRCh37 |
| NC_000015.8:g.40805040G>A | NCBI36 |
| NG_012491.1:g.16670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.3389C>T MANE Select | ENSP00000348564.3:p.Pro1130Leu | |
| ENST00000643434.1:c.*2456C>T | ENSP00000494699.1:n.*2456C>T | |
| ENST00000356231.3:c.3389C>T | ENSP00000348564.3:p.Pro1130Leu | |
| ENST00000562465.5:c.1335C>T | ENSP00000454246.1:n.1335C>T | |
| ENST00000563604.1:n.88C>T | ||
| NM_138477.2:c.3389C>T | NP_612486.2:p.Pro1130Leu | |
| XM_005254176.3:c.3392C>T | XP_005254233.1:p.Pro1131Leu | |
| XM_011521270.1:c.3416C>T | XP_011519572.1:p.Pro1139Leu | |
| XM_011521271.1:c.3413C>T | XP_011519573.1:p.Pro1138Leu | |
| XM_011521274.1:c.2381C>T | XP_011519576.1:p.Pro794Leu | |
| XM_011521275.1:c.2633C>T | XP_011519577.1:p.Pro878Leu | |
| NM_138477.4:c.3389C>T MANE Select | NP_612486.2:p.Pro1130Leu | |
| XM_005254176.5:c.3392C>T | XP_005254233.1:p.Pro1131Leu | |
| XM_011521270.2:c.3416C>T | XP_011519572.1:p.Pro1139Leu | |
| XM_011521271.2:c.3413C>T | XP_011519573.1:p.Pro1138Leu | |
| XM_011521274.2:c.2381C>T | XP_011519576.1:p.Pro794Leu | |
| XR_001751104.1:n.3382C>T | ||
| XR_001751105.1:n.3399C>T |