Revel Score:
ENST00000366560 (MANE Select)
0.915
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504224G>A , CM000663.2:g.241504224G>A | GRCh38 |
| NC_000001.10:g.241667524G>A , CM000663.1:g.241667524G>A | GRCh37 |
| NC_000001.9:g.239734147G>A | NCBI36 |
| NG_012338.1:g.20531C>T , LRG_504:g.20531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1429C>T | ||
| ENST00000682162.1:c.955C>T | ENSP00000508203.1:n.955C>T | |
| ENST00000682567.1:n.1003C>T | ||
| ENST00000683521.1:c.926C>T | ENSP00000506864.1:p.Pro309Leu | |
| ENST00000684161.1:n.2141C>T | ||
| ENST00000684483.1:c.*322C>T | ENSP00000507894.1:n.*322C>T | |
| ENST00000366560.4:c.926C>T MANE Select | ENSP00000355518.4:p.Pro309Leu | |
| ENST00000366560.3:c.926C>T | ENSP00000355518.3:p.Pro309Leu | |
| NM_000143.3:c.926C>T , LRG_504t1:c.926C>T | NP_000134.2:p.Pro309Leu | |
| XM_011544132.1:c.698C>T | XP_011542434.1:p.Pro233Leu | |
| XM_011544132.2:c.698C>T | XP_011542434.1:p.Pro233Leu | |
| NM_000143.4:c.926C>T MANE Select | NP_000134.2:p.Pro309Leu |