Revel Score:
ENST00000298139 (MANE Select)
0.103
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002979 (EAS)
Exomes Max Group AF
0.00003351 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31080995C>T , CM000670.2:g.31080995C>T | GRCh38 |
| NC_000008.10:g.30938511C>T , CM000670.1:g.30938511C>T | GRCh37 |
| NC_000008.9:g.31058053C>T | NCBI36 |
| NG_008870.1:g.52734C>T , LRG_524:g.52734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.968C>T MANE Select | ENSP00000298139.5:p.Ser323Leu | |
| ENST00000650667.1:c.*582C>T | ENSP00000498593.1:n.*582C>T | |
| ENST00000651642.1:c.263C>T | ENSP00000498779.1:p.Ser88Leu | |
| ENST00000298139.5:c.968C>T | ENSP00000298139.5:p.Ser323Leu | |
| NM_000553.4:c.968C>T , LRG_524t1:c.968C>T | NP_000544.2:p.Ser323Leu | |
| XM_011544639.1:c.968C>T | XP_011542941.1:p.Ser323Leu | |
| XR_949470.1:n.1241C>T | ||
| XR_949471.1:n.1241C>T | ||
| XR_949472.1:n.1241C>T | ||
| NM_000553.5:c.968C>T | NP_000544.2:p.Ser323Leu | |
| XM_011544639.3:c.968C>T | XP_011542941.1:p.Ser323Leu | |
| XM_024447265.1:c.758C>T | XP_024303033.1:p.Ser253Leu | |
| XR_949470.3:n.1269C>T | ||
| XR_949471.3:n.1269C>T | ||
| XR_949472.3:n.1269C>T | ||
| NM_000553.6:c.968C>T MANE Select | NP_000544.2:p.Ser323Leu |