Revel Score:
ENST00000397054
0.023
ENST00000236040
0.023
ENST00000296388 (MANE Select)
0.023
ENST00000540027
0.023
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00284108 (AFR)
Genomes Max Group AF
0.00280309 (AFR)
Exomes Max Group AF
0.00259475 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42752314T>C , CM000663.2:g.42752314T>C | GRCh38 |
| NC_000001.10:g.43217985T>C , CM000663.1:g.43217985T>C | GRCh37 |
| NC_000001.9:g.42990572T>C | NCBI36 |
| NG_008123.1:g.19771A>G , LRG_5:g.19771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.1529A>G MANE Select | ENSP00000296388.5:p.Asn510Ser | |
| ENST00000236040.8:c.1529A>G | ENSP00000236040.4:p.Asn510Ser | |
| ENST00000296388.9:c.1529A>G | ENSP00000296388.5:p.Asn510Ser | |
| ENST00000397054.7:c.1529A>G | ENSP00000380245.3:p.Asn510Ser | |
| ENST00000431412.3:c.351A>G | ||
| ENST00000447502.2:n.303A>G | ||
| ENST00000460031.5:n.1721A>G | ||
| ENST00000481465.3:n.252A>G | ||
| ENST00000495874.5:n.1809A>G | ||
| NM_001146289.1:c.1529A>G , LRG_5t2:c.1529A>G | NP_001139761.1:p.Asn510Ser | |
| NM_001243246.1:c.1529A>G , LRG_5t3:c.1529A>G | NP_001230175.1:p.Asn510Ser | |
| NM_022356.3:c.1529A>G , LRG_5t1:c.1529A>G | NP_071751.3:p.Asn510Ser | |
| XM_005271110.2:c.521A>G | XP_005271167.1:p.Asn174Ser | |
| XM_011541947.1:c.554A>G | XP_011540249.1:p.Asn185Ser | |
| XM_011541948.1:c.554A>G | XP_011540250.1:p.Asn185Ser | |
| XM_011541949.1:c.551A>G | XP_011540251.1:p.Asn184Ser | |
| XM_017002051.2:c.554A>G | XP_016857540.1:p.Asn185Ser | |
| XM_017002052.2:c.551A>G | XP_016857541.1:p.Asn184Ser | |
| XR_946739.2:n.1654A>G | ||
| NM_022356.4:c.1529A>G MANE Select | NP_071751.3:p.Asn510Ser | |
| NM_001146289.2:c.1529A>G | NP_001139761.1:p.Asn510Ser | |
| NM_001243246.2:c.1529A>G | NP_001230175.1:p.Asn510Ser |