Revel Score:
ENST00000337818
0.098
ENST00000216181 (MANE Select)
0.098
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022774 (SAS)
Genomes Max Group AF
0.00007287 (SAS)
Exomes Max Group AF
0.00022074 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36301567G>C , CM000684.2:g.36301567G>C | GRCh38 |
| NC_000022.10:g.36697613G>C , CM000684.1:g.36697613G>C | GRCh37 |
| NC_000022.9:g.35027559G>C | NCBI36 |
| NG_011884.2:g.91452C>G , LRG_567:g.91452C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.2661C>G | ENSP00000510688.1:p.Asn887Lys | |
| ENST00000691109.1:n.2893C>G | ||
| ENST00000216181.11:c.2598C>G MANE Select | ENSP00000216181.6:p.Asn866Lys | |
| ENST00000216181.9:c.2598C>G | ENSP00000216181.5:p.Asn866Lys | |
| ENST00000495928.1:n.148C>G | ||
| NM_002473.5:c.2598C>G , LRG_567t1:c.2598C>G | NP_002464.1:p.Asn866Lys | |
| XM_011530197.1:c.2598C>G | XP_011528499.1:p.Asn866Lys | |
| XM_011530197.2:c.2598C>G | XP_011528499.1:p.Asn866Lys | |
| XM_017028803.1:c.2598C>G | XP_016884292.1:p.Asn866Lys | |
| XM_017028804.1:c.2598C>G | XP_016884293.1:p.Asn866Lys | |
| XM_017028805.1:c.2598C>G | XP_016884294.1:p.Asn866Lys | |
| XM_017028806.1:c.2598C>G | XP_016884295.1:p.Asn866Lys | |
| NM_002473.6:c.2598C>G MANE Select | NP_002464.1:p.Asn866Lys |