Revel Score:
ENST00000205557 (MANE Select)
0.678
ENST00000205558
0.678
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00036805 (EAS)
Genomes Max Group AF
0.00003248 (AFR)
Exomes Max Group AF
0.00041599 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150204C>T , CM000678.2:g.16150204C>T | GRCh38 |
| NC_000016.9:g.16244061C>T , CM000678.1:g.16244061C>T | GRCh37 |
| NC_000016.8:g.16151562C>T | NCBI36 |
| NG_007558.2:g.78268G>A | |
| NG_007558.3:g.78414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*613G>A | ENSP00000483331.2:n.*613G>A | |
| ENST00000205557.12:c.4441G>A MANE Select | ENSP00000205557.7:p.Gly1481Ser | |
| ENST00000640696.1:c.1255G>A | ENSP00000492197.1:p.Gly419Ser | |
| ENST00000205557.11:c.4441G>A | ENSP00000205557.7:p.Gly1481Ser | |
| ENST00000456970.6:c.4066G>A | ENSP00000405002.2:n.4066G>A | |
| ENST00000576204.5:n.1304G>A | ||
| ENST00000622290.4:c.*1650G>A | ENSP00000483331.1:n.*1650G>A | |
| NM_001171.5:c.4441G>A | NP_001162.4:p.Gly1481Ser | |
| XM_011522479.1:c.4408G>A | XP_011520781.1:p.Gly1470Ser | |
| XM_011522480.1:c.4099G>A | XP_011520782.1:p.Gly1367Ser | |
| XM_011522481.1:c.4099G>A | XP_011520783.1:p.Gly1367Ser | |
| XR_933134.1:n.538+5914C>T | ||
| NM_001351800.1:c.4099G>A | NP_001338729.1:p.Gly1367Ser | |
| NR_147784.1:n.4103G>A | ||
| XM_011522479.2:c.4408G>A | XP_011520781.1:p.Gly1470Ser | |
| XM_011522481.3:c.4099G>A | XP_011520783.1:p.Gly1367Ser | |
| XM_017023212.1:c.4273G>A | XP_016878701.1:p.Gly1425Ser | |
| XM_024450261.1:c.4477G>A | XP_024306029.1:p.Gly1493Ser | |
| NM_001171.6:c.4441G>A MANE Select | NP_001162.5:p.Gly1481Ser |