Revel Score:
ENST00000205557 (MANE Select)
0.711
ENST00000205558
0.711
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004283 (AMR)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00005804 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16165784A>C , CM000678.2:g.16165784A>C | GRCh38 |
| NC_000016.9:g.16259641A>C , CM000678.1:g.16259641A>C | GRCh37 |
| NC_000016.8:g.16167142A>C | NCBI36 |
| NG_007558.2:g.62688T>G | |
| NG_007558.3:g.62834T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3145T>G | ENSP00000483331.2:p.Ser1049Ala | |
| ENST00000205557.12:c.3145T>G MANE Select | ENSP00000205557.7:p.Ser1049Ala | |
| ENST00000640696.1:c.160T>G | ENSP00000492197.1:p.Ser54Ala | |
| ENST00000205557.11:c.3145T>G | ENSP00000205557.7:p.Ser1049Ala | |
| ENST00000456970.6:c.2970T>G | ENSP00000405002.2:n.2970T>G | |
| ENST00000622290.4:c.*354T>G | ENSP00000483331.1:n.*354T>G | |
| NM_001171.5:c.3145T>G | NP_001162.4:p.Ser1049Ala | |
| XM_011522479.1:c.3112T>G | XP_011520781.1:p.Ser1038Ala | |
| XM_011522480.1:c.2803T>G | XP_011520782.1:p.Ser935Ala | |
| XM_011522481.1:c.2803T>G | XP_011520783.1:p.Ser935Ala | |
| XR_932836.1:n.3380T>G | ||
| XR_932837.1:n.3381T>G | ||
| XR_932838.1:n.3381T>G | ||
| NM_001351800.1:c.2803T>G | NP_001338729.1:p.Ser935Ala | |
| NR_147784.1:n.3007T>G | ||
| XM_011522479.2:c.3112T>G | XP_011520781.1:p.Ser1038Ala | |
| XM_011522481.3:c.2803T>G | XP_011520783.1:p.Ser935Ala | |
| XM_017023212.1:c.2977T>G | XP_016878701.1:p.Ser993Ala | |
| XM_017023214.1:c.3145T>G | XP_016878703.1:p.Ser1049Ala | |
| XM_024450261.1:c.3181T>G | XP_024306029.1:p.Ser1061Ala | |
| XR_932836.2:n.3326T>G | ||
| XR_932837.3:n.3326T>G | ||
| XR_932838.3:n.3326T>G | ||
| NM_001171.6:c.3145T>G MANE Select | NP_001162.5:p.Ser1049Ala |