Revel Score:
ENST00000333891 (MANE Select)
0.096
ENST00000423517
0.096
ENST00000380195
0.096
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65124451 (EAS)
Genomes Max Group AF
0.67846977 (EAS)
Exomes Max Group AF
0.64569693 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.82824392A>C , CM000669.2:g.82824392A>C | GRCh38 |
| NC_000007.13:g.82453708A>C , CM000669.1:g.82453708A>C | GRCh37 |
| NC_000007.12:g.82291644A>C | NCBI36 |
| NG_047145.1:g.343490T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333891.14:c.14440T>G MANE Select | ENSP00000334319.8:p.Ser4814Ala | |
| ENST00000333891.13:c.14440T>G | ENSP00000334319.8:p.Ser4814Ala | |
| ENST00000423517.6:c.14440T>G | ENSP00000388393.2:p.Ser4814Ala | |
| ENST00000426442.6:n.935T>G | ||
| ENST00000618073.1:c.703T>G | ENSP00000482390.1:p.Ser235Ala | |
| NM_014510.2:c.14440T>G | NP_055325.2:p.Ser4814Ala | |
| NM_033026.5:c.14440T>G | NP_149015.2:p.Ser4814Ala | |
| XM_017012006.2:c.7345T>G | XP_016867495.1:p.Ser2449Ala | |
| XM_017012007.1:c.7318T>G | XP_016867496.1:p.Ser2440Ala | |
| XR_001744643.2:n.16009T>G | ||
| NM_033026.6:c.14440T>G MANE Select | NP_149015.2:p.Ser4814Ala | |
| NM_014510.3:c.14440T>G | NP_055325.2:p.Ser4814Ala |