Revel Score:
ENST00000537216
0.008
ENST00000537624
0.008
ENST00000286749
0.008
ENST00000394573 (MANE Select)
0.008
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55734189 (MID)
Genomes Max Group AF
0.49925274 (NFE)
Exomes Max Group AF
0.55532606 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84935498G>A , CM000677.2:g.84935498G>A | GRCh38 |
| NC_000015.9:g.85478729G>A , CM000677.1:g.85478729G>A | GRCh37 |
| NC_000015.8:g.83279733G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394573.6:c.1561G>A MANE Select | ENSP00000378074.1:p.Asp521Asn | |
| ENST00000286749.3:c.1561G>A | ENSP00000286749.3:p.Asp521Asn | |
| ENST00000394573.5:c.1561G>A | ENSP00000378074.1:p.Asp521Asn | |
| ENST00000538177.5:c.1084-7947G>A | ENSP00000443752.1:n.1084-7947G>A | |
| NM_001287761.1:c.1084-7947G>A | NP_001274690.1:n.1084-7947G>A | |
| NM_001287762.1:c.1561G>A | NP_001274691.1:p.Asp521Asn | |
| NM_004213.4:c.1561G>A | NP_004204.3:p.Asp521Asn | |
| XM_011522203.1:c.1561G>A | XP_011520505.1:p.Asp521Asn | |
| XM_011522204.1:c.1561G>A | XP_011520506.1:p.Asp521Asn | |
| XM_011522205.1:c.1561G>A | XP_011520507.1:p.Asp521Asn | |
| XM_011522206.1:c.1561G>A | XP_011520508.1:p.Asp521Asn | |
| XM_011522207.1:c.1561G>A | XP_011520509.1:p.Asp521Asn | |
| XM_011522208.1:c.1534G>A | XP_011520510.1:p.Asp512Asn | |
| XM_011522209.1:c.1483G>A | XP_011520511.1:p.Asp495Asn | |
| XM_011522210.1:c.1561G>A | XP_011520512.1:p.Asp521Asn | |
| XM_011522211.1:c.1327G>A | XP_011520513.1:p.Asp443Asn | |
| XM_011522212.1:c.1561G>A | XP_011520514.1:p.Asp521Asn | |
| XM_011522213.1:c.1561G>A | XP_011520515.1:p.Asp521Asn | |
| XM_011522214.1:c.1561G>A | XP_011520516.1:p.Asp521Asn | |
| XM_011522215.1:c.1084-7947G>A | XP_011520517.1:n.1084-7947G>A | |
| XM_011522216.1:c.1327G>A | XP_011520518.1:p.Asp443Asn | |
| XM_011522217.1:c.1084-7947G>A | XP_011520519.1:n.1084-7947G>A | |
| XR_931944.1:n.1636G>A | ||
| NM_001321721.1:c.1561G>A | NP_001308650.1:p.Asp521Asn | |
| NM_001321722.1:c.1561G>A | NP_001308651.1:p.Asp521Asn | |
| XM_011522203.2:c.1561G>A | XP_011520505.1:p.Asp521Asn | |
| XM_011522204.3:c.1561G>A | XP_011520506.1:p.Asp521Asn | |
| XM_011522205.3:c.1561G>A | XP_011520507.1:p.Asp521Asn | |
| XM_011522206.3:c.1561G>A | XP_011520508.1:p.Asp521Asn | |
| XM_011522208.3:c.1534G>A | XP_011520510.1:p.Asp512Asn | |
| XM_011522209.2:c.1483G>A | XP_011520511.1:p.Asp495Asn | |
| XM_011522210.2:c.1561G>A | XP_011520512.1:p.Asp521Asn | |
| XM_011522211.3:c.1327G>A | XP_011520513.1:p.Asp443Asn | |
| XM_011522214.2:c.1561G>A | XP_011520516.1:p.Asp521Asn | |
| XM_011522215.2:c.1084-7947G>A | XP_011520517.1:n.1084-7947G>A | |
| XM_011522216.2:c.1327G>A | XP_011520518.1:p.Asp443Asn | |
| XM_017022723.1:c.1561G>A | XP_016878212.1:p.Asp521Asn | |
| XM_024450099.1:c.1561G>A | XP_024305867.1:p.Asp521Asn | |
| XM_024450100.1:c.1483G>A | XP_024305868.1:p.Asp495Asn | |
| XM_024450101.1:c.1483G>A | XP_024305869.1:p.Asp495Asn | |
| XM_024450102.1:c.520G>A | XP_024305870.1:p.Asp174Asn | |
| XR_931944.2:n.1636G>A | ||
| NM_004213.5:c.1561G>A MANE Select | NP_004204.3:p.Asp521Asn | |
| NM_001287762.2:c.1561G>A | NP_001274691.1:p.Asp521Asn | |
| NM_001321721.2:c.1561G>A | NP_001308650.1:p.Asp521Asn | |
| NM_001321722.2:c.1561G>A | NP_001308651.1:p.Asp521Asn | |
| NM_001287761.2:c.1084-7947G>A | NP_001274690.1:n.1084-7947G>A |