Revel Score:
ENST00000260818 (MANE Select)
0.704
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001379 (NFE)
Genomes Max Group AF
0.00002263 (AMR)
Exomes Max Group AF
0.00001217 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132477995A>G , CM000665.2:g.132477995A>G | GRCh38 |
| NC_000003.11:g.132196839A>G , CM000665.1:g.132196839A>G | GRCh37 |
| NC_000003.10:g.133679529A>G | NCBI36 |
| NG_051045.1:g.65469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260818.11:c.2564A>G MANE Select | ENSP00000260818.6:p.Asn855Ser | |
| ENST00000650455.1:c.*712A>G | ENSP00000496825.1:n.*712A>G | |
| ENST00000260818.10:c.2564A>G | ENSP00000260818.6:p.Asn855Ser | |
| ENST00000464766.1:n.401A>G | ||
| NM_015268.3:c.2564A>G | NP_056083.3:p.Asn855Ser | |
| XM_005247245.3:c.2579A>G | XP_005247302.1:p.Asn860Ser | |
| NM_001329126.1:c.2579A>G | NP_001316055.1:p.Asn860Ser | |
| XM_017006036.1:c.533A>G | XP_016861525.1:p.Asn178Ser | |
| NM_015268.4:c.2564A>G MANE Select | NP_056083.3:p.Asn855Ser | |
| NM_001329126.2:c.2579A>G | NP_001316055.1:p.Asn860Ser |