Revel Score:
ENST00000346991
0.027
ENST00000260369
0.027
ENST00000399668 (MANE Select)
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8446672 (NFE)
Genomes Max Group AF
0.84525687 (NFE)
Exomes Max Group AF
0.84431899 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40621642G>T , CM000677.2:g.40621642G>T | GRCh38 |
| NC_000015.9:g.40913840G>T , CM000677.1:g.40913840G>T | GRCh37 |
| NC_000015.8:g.38701132G>T | NCBI36 |
| NG_033114.1:g.32394G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.1378G>T MANE Select | ENSP00000382576.3:p.Ala460Ser | |
| ENST00000346991.9:c.1456G>T | ENSP00000335463.6:p.Ala486Ser | |
| ENST00000399668.6:c.1378G>T | ENSP00000382576.2:p.Ala460Ser | |
| ENST00000527044.5:c.1378G>T | ENSP00000432654.2:p.Ala460Ser | |
| ENST00000533001.1:n.1523G>T | ||
| ENST00000534204.1:c.116-7682G>T | ENSP00000453857.1:n.116-7682G>T | |
| ENST00000614337.4:n.1694G>T | ||
| NM_144508.4:c.1378G>T | NP_653091.3:p.Ala460Ser | |
| NM_170589.4:c.1456G>T | NP_733468.3:p.Ala486Ser | |
| XM_011521816.1:c.1054G>T | XP_011520118.1:p.Ala352Ser | |
| XM_011521817.1:c.1378G>T | XP_011520119.1:p.Ala460Ser | |
| XM_017022432.1:c.1054G>T | XP_016877921.1:p.Ala352Ser | |
| NM_144508.5:c.1378G>T MANE Select | NP_653091.3:p.Ala460Ser | |
| NM_170589.5:c.1456G>T | NP_733468.3:p.Ala486Ser |