Revel Score:
ENST00000367698 (MANE Select)
0.673
ENST00000351522
0.673
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00173834 (NFE)
Genomes Max Group AF
0.00180256 (AMR)
Exomes Max Group AF
0.00174403 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904038C>A , CM000663.2:g.173904038C>A | GRCh38 |
| NC_000001.10:g.173873176C>A , CM000663.1:g.173873176C>A | GRCh37 |
| NC_000001.9:g.172139799C>A | NCBI36 |
| NG_012462.1:g.18341G>T , LRG_577:g.18341G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1246G>T MANE Select | ENSP00000356671.3:p.Ala416Ser | |
| ENST00000367698.3:c.1246G>T | ENSP00000356671.3:p.Ala416Ser | |
| ENST00000617423.4:c.631G>T | ENSP00000478688.1:p.Ala211Ser | |
| NM_000488.3:c.1246G>T , LRG_577t1:c.1246G>T | NP_000479.1:p.Ala416Ser | |
| XM_005245198.2:c.1102G>T | XP_005245255.1:p.Ala368Ser | |
| NM_001365052.1:c.1102G>T | NP_001351981.1:p.Ala368Ser | |
| NM_000488.4:c.1246G>T MANE Select | NP_000479.1:p.Ala416Ser | |
| NM_001365052.2:c.1102G>T | NP_001351981.1:p.Ala368Ser | |
| NM_001386302.1:c.1369G>T | NP_001373231.1:p.Ala457Ser | |
| NM_001386303.1:c.1327G>T | NP_001373232.1:p.Ala443Ser | |
| NM_001386304.1:c.1225G>T | NP_001373233.1:p.Ala409Ser | |
| NM_001386305.1:c.1189G>T | NP_001373234.1:p.Ala397Ser | |
| NM_001386306.1:c.1030G>T | NP_001373235.1:p.Ala344Ser |