Revel Score:
ENST00000328090
0.031
ENST00000442808
0.031
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89651615 (AMR)
Genomes Max Group AF
0.87792773 (AMR)
Exomes Max Group AF
0.90218719 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5762568G>A , CM000672.2:g.5762568G>A | GRCh38 |
| NC_000010.10:g.5804531G>A , CM000672.1:g.5804531G>A | GRCh37 |
| NC_000010.9:g.5844537G>A | NCBI36 |
| NG_021250.1:g.82731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695737.1:c.7211G>A MANE Select | ENSP00000512130.1:p.Ser2404Asn | |
| ENST00000695832.1:c.7463G>A | ENSP00000512205.1:p.Ser2488Asn | |
| ENST00000695833.1:c.6968G>A | ENSP00000512206.1:p.Ser2323Asn | |
| ENST00000695834.1:c.7211G>A | ENSP00000512207.1:p.Ser2404Asn | |
| ENST00000695835.1:c.3686G>A | ENSP00000512208.1:p.Ser1229Asn | |
| ENST00000695836.1:c.*3493G>A | ENSP00000512209.1:n.*3493G>A | |
| ENST00000695837.1:c.1484G>A | ||
| ENST00000699050.1:c.7916G>A | ENSP00000514101.1:p.Ser2639Asn | |
| ENST00000699051.1:c.7994G>A | ENSP00000514102.1:p.Ser2665Asn | |
| ENST00000645567.1:c.7856G>A | ENSP00000496466.1:p.Ser2619Asn | |
| ENST00000328090.9:c.7211G>A | ENSP00000328426.5:p.Ser2404Asn | |
| ENST00000459693.1:n.669G>A | ||
| NM_017782.4:c.7211G>A | NP_060252.4:p.Ser2404Asn | |
| XM_005252474.2:c.7931G>A | XP_005252531.1:p.Ser2644Asn | |
| XM_005252475.2:c.7211G>A | XP_005252532.1:p.Ser2404Asn | |
| XM_005252476.3:c.7484G>A | XP_005252533.1:p.Ser2495Asn | |
| XM_005252478.3:c.7211G>A | XP_005252535.1:p.Ser2404Asn | |
| XM_005252480.3:c.7211G>A | XP_005252537.1:p.Ser2404Asn | |
| XM_005252481.3:c.7211G>A | XP_005252538.1:p.Ser2404Asn | |
| XM_005252482.1:c.7211G>A | XP_005252539.1:p.Ser2404Asn | |
| XM_011519515.1:c.8069G>A | XP_011517817.1:p.Ser2690Asn | |
| XM_011519516.1:c.8069G>A | XP_011517818.1:p.Ser2690Asn | |
| XM_011519517.1:c.7994G>A | XP_011517819.1:p.Ser2665Asn | |
| XM_011519518.1:c.7916G>A | XP_011517820.1:p.Ser2639Asn | |
| XM_011519519.1:c.7826G>A | XP_011517821.1:p.Ser2609Asn | |
| XM_011519520.1:c.7766G>A | XP_011517822.1:p.Ser2589Asn | |
| XM_011519521.1:c.7622G>A | XP_011517823.1:p.Ser2541Asn | |
| XM_011519522.1:c.7622G>A | XP_011517824.1:p.Ser2541Asn | |
| XM_011519523.1:c.7211G>A | XP_011517825.1:p.Ser2404Asn | |
| XM_011519524.1:c.7211G>A | XP_011517826.1:p.Ser2404Asn | |
| XM_011519525.1:c.7211G>A | XP_011517827.1:p.Ser2404Asn | |
| NM_001321783.1:c.7211G>A | NP_001308712.1:p.Ser2404Asn | |
| NM_001321784.1:c.7211G>A | NP_001308713.1:p.Ser2404Asn | |
| NM_001321785.1:c.6968G>A | NP_001308714.1:p.Ser2323Asn | |
| XM_005252474.4:c.7931G>A | XP_005252531.1:p.Ser2644Asn | |
| XM_005252475.4:c.7211G>A | XP_005252532.1:p.Ser2404Asn | |
| XM_005252476.5:c.7484G>A | XP_005252533.1:p.Ser2495Asn | |
| XM_005252480.5:c.7211G>A | XP_005252537.1:p.Ser2404Asn | |
| XM_005252481.5:c.7211G>A | XP_005252538.1:p.Ser2404Asn | |
| XM_005252482.3:c.7211G>A | XP_005252539.1:p.Ser2404Asn | |
| XM_011519515.3:c.8069G>A | XP_011517817.1:p.Ser2690Asn | |
| XM_011519516.2:c.8069G>A | XP_011517818.1:p.Ser2690Asn | |
| XM_011519517.3:c.7994G>A | XP_011517819.1:p.Ser2665Asn | |
| XM_011519518.3:c.7916G>A | XP_011517820.1:p.Ser2639Asn | |
| XM_011519519.3:c.7826G>A | XP_011517821.1:p.Ser2609Asn | |
| XM_011519520.3:c.7766G>A | XP_011517822.1:p.Ser2589Asn | |
| XM_011519521.3:c.7622G>A | XP_011517823.1:p.Ser2541Asn | |
| XM_011519522.3:c.7622G>A | XP_011517824.1:p.Ser2541Asn | |
| XM_011519525.3:c.7211G>A | XP_011517827.1:p.Ser2404Asn | |
| XM_017016361.1:c.7826G>A | XP_016871850.1:p.Ser2609Asn | |
| XM_017016362.2:c.7658G>A | XP_016871851.1:p.Ser2553Asn | |
| XM_017016363.2:c.7211G>A | XP_016871852.1:p.Ser2404Asn | |
| XM_017016364.2:c.7520G>A | XP_016871853.1:p.Ser2507Asn | |
| XM_017016365.2:c.7211G>A | XP_016871854.1:p.Ser2404Asn | |
| NM_001321783.2:c.7211G>A MANE Select | NP_001308712.2:p.Ser2404Asn | |
| NM_001321784.2:c.7211G>A | NP_001308713.2:p.Ser2404Asn | |
| NM_001321785.2:c.6968G>A | NP_001308714.2:p.Ser2323Asn | |
| NM_001387328.1:c.7856G>A | NP_001374257.1:p.Ser2619Asn | |
| NM_017782.5:c.7211G>A | NP_060252.5:p.Ser2404Asn |