Revel Score:
ENST00000266546 (MANE Select)
0.094
ENST00000537408
0.094
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05857413 (NFE)
Genomes Max Group AF
0.05455215 (NFE)
Exomes Max Group AF
0.05874015 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7135836A>G , CM000674.2:g.7135836A>G | GRCh38 |
| NC_000012.11:g.7288432A>G , CM000674.1:g.7288432A>G | GRCh37 |
| NC_000012.10:g.7179699A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266546.11:c.625A>G MANE Select | ENSP00000266546.6:p.Ser209Gly | |
| ENST00000266546.10:c.625A>G | ENSP00000266546.6:p.Ser209Gly | |
| ENST00000537408.1:c.661A>G | ENSP00000440679.1:p.Ser221Gly | |
| ENST00000540931.1:n.120A>G | ||
| ENST00000541667.5:n.352A>G | ||
| NM_014718.3:c.625A>G | NP_055533.2:p.Ser209Gly | |
| XM_006719163.2:c.661A>G | XP_006719226.1:p.Ser221Gly | |
| XM_006719163.4:c.661A>G | XP_006719226.1:p.Ser221Gly | |
| NM_014718.4:c.625A>G MANE Select | NP_055533.2:p.Ser209Gly |