Revel Score:
ENST00000453031
0.103
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0001257 (AFR)
Exomes Max Group AF
0.00019279 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12856406G>A , CM000686.2:g.12856406G>A | GRCh38 |
| NC_000024.9:g.14968331G>A , CM000686.1:g.14968331G>A | GRCh37 |
| NC_000024.8:g.13477725G>A | NCBI36 |
| NG_008311.1:g.160172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.7131G>A | ENSP00000498372.1:p.Ser2377= | |
| ENST00000338981.7:c.7131G>A MANE Select | ENSP00000342812.3:p.Ser2377= | |
| ENST00000426564.6:n.7158G>A | ||
| ENST00000453031.1:c.176G>A | ||
| NM_004654.3:c.7131G>A | NP_004645.2:p.Ser2377= | |
| XM_011531469.1:c.7131G>A | XP_011529771.1:p.Ser2377= | |
| XM_011531470.1:c.6897G>A | XP_011529772.1:p.Ser2299= | |
| XM_017030078.2:c.7146G>A | XP_016885567.1:p.Ser2382= | |
| NM_004654.4:c.7131G>A MANE Select | NP_004645.2:p.Ser2377= |