Revel Score:
ENST00000377047 (MANE Select)
0.247
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001377 (NFE)
Genomes Max Group AF
0.0000117 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.94403045G>A , CM000675.2:g.94403045G>A | GRCh38 |
| NC_000013.10:g.95055299G>A , CM000675.1:g.95055299G>A | GRCh37 |
| NC_000013.9:g.93853300G>A | NCBI36 |
| NG_011880.1:g.1181222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.1496G>A MANE Select | ENSP00000366246.3:p.Ser499Asn | |
| ENST00000377047.8:c.1496G>A | ENSP00000366246.3:p.Ser499Asn | |
| ENST00000617456.1:c.620G>A | ENSP00000477667.1:p.Ser207Asn | |
| NM_005708.3:c.1496G>A | NP_005699.1:p.Ser499Asn | |
| XM_011521044.1:c.1286G>A | XP_011519346.1:p.Ser429Asn | |
| NM_005708.4:c.1496G>A | NP_005699.1:p.Ser499Asn | |
| XM_011521044.2:c.1286G>A | XP_011519346.1:p.Ser429Asn | |
| XM_017020298.1:c.1286G>A | XP_016875787.1:p.Ser429Asn | |
| XM_017020299.2:c.1286G>A | XP_016875788.1:p.Ser429Asn | |
| XM_017020300.1:c.1286G>A | XP_016875789.1:p.Ser429Asn | |
| XM_017020301.1:c.1130G>A | XP_016875790.1:p.Ser377Asn | |
| XM_017020302.1:c.803G>A | XP_016875791.1:p.Ser268Asn | |
| NM_005708.5:c.1496G>A MANE Select | NP_005699.1:p.Ser499Asn |