Revel Score:
ENST00000296388 (MANE Select)
0.046
ENST00000540027
0.046
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01190873 (EAS)
Genomes Max Group AF
0.00684658 (EAS)
Exomes Max Group AF
0.01239152 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42746756G>C , CM000663.2:g.42746756G>C | GRCh38 |
| NC_000001.10:g.43212427G>C , CM000663.1:g.43212427G>C | GRCh37 |
| NC_000001.9:g.42985014G>C | NCBI36 |
| NG_008123.1:g.25329C>G , LRG_5:g.25329C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.2152C>G MANE Select | ENSP00000296388.5:p.Pro718Ala | |
| ENST00000236040.8:c.*156C>G | ENSP00000236040.4:n.*156C>G | |
| ENST00000296388.9:c.2152C>G | ENSP00000296388.5:p.Pro718Ala | |
| ENST00000397054.7:c.*77C>G | ENSP00000380245.3:n.*77C>G | |
| ENST00000460031.5:n.2344C>G | ||
| ENST00000462474.5:n.333C>G | ||
| ENST00000472802.1:n.421C>G | ||
| ENST00000495874.5:n.2432C>G | ||
| NM_001146289.1:c.*77C>G , LRG_5t2:c.*77C>G | NP_001139761.1:n.*77C>G | |
| NM_001243246.1:c.*156C>G , LRG_5t3:c.*156C>G | NP_001230175.1:n.*156C>G | |
| NM_022356.3:c.2152C>G , LRG_5t1:c.2152C>G | NP_071751.3:p.Pro718Ala | |
| XM_005271110.2:c.1144C>G | XP_005271167.1:p.Pro382Ala | |
| XM_011541947.1:c.1177C>G | XP_011540249.1:p.Pro393Ala | |
| XM_011541948.1:c.1177C>G | XP_011540250.1:p.Pro393Ala | |
| XM_011541949.1:c.1174C>G | XP_011540251.1:p.Pro392Ala | |
| XM_017002051.2:c.1177C>G | XP_016857540.1:p.Pro393Ala | |
| XM_017002052.2:c.1174C>G | XP_016857541.1:p.Pro392Ala | |
| NM_022356.4:c.2152C>G MANE Select | NP_071751.3:p.Pro718Ala | |
| NM_001146289.2:c.*77C>G | NP_001139761.1:n.*77C>G | |
| NM_001243246.2:c.*156C>G | NP_001230175.1:n.*156C>G |