COSMIC:
COSM3750834 (not active)
Revel Score:
ENST00000367058
0.142
ENST00000367057 (MANE Select)
0.142
ENST00000367059
0.142
ENST00000458541
0.142
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37458743 (AFR)
Genomes Max Group AF
0.37233693 (AFR)
Exomes Max Group AF
0.37398228 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207473117G>A , CM000663.2:g.207473117G>A | GRCh38 |
| NC_000001.10:g.207646462G>A , CM000663.1:g.207646462G>A | GRCh37 |
| NC_000001.9:g.205713085G>A | NCBI36 |
| NG_013006.1:g.23818G>A , LRG_348:g.23818G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699620.1:c.1547G>A | ENSP00000514480.1:p.Ser516Asn | |
| ENST00000699621.1:c.1536G>A | ||
| ENST00000367057.8:c.1916G>A MANE Select | ENSP00000356024.3:p.Ser639Asn | |
| ENST00000367057.7:c.1916G>A | ENSP00000356024.3:p.Ser639Asn | |
| ENST00000367058.7:c.1916G>A | ENSP00000356025.3:p.Ser639Asn | |
| ENST00000367059.3:c.1916G>A | ENSP00000356026.3:p.Ser639Asn | |
| NM_001006658.2:c.1916G>A , LRG_348t1:c.1916G>A | NP_001006659.1:p.Ser639Asn | |
| NM_001877.4:c.1916G>A | NP_001868.2:p.Ser639Asn | |
| XM_011509206.1:c.1547G>A | XP_011507508.1:p.Ser516Asn | |
| XM_011509206.3:c.1547G>A | XP_011507508.1:p.Ser516Asn | |
| NM_001006658.3:c.1916G>A MANE Select | NP_001006659.1:p.Ser639Asn | |
| NM_001877.5:c.1916G>A | NP_001868.2:p.Ser639Asn |