Revel Score:
ENST00000503569
0.414
ENST00000226760 (MANE Select)
0.414
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301294A>G , CM000666.2:g.6301294A>G | GRCh38 |
| NC_000004.11:g.6303021A>G , CM000666.1:g.6303021A>G | GRCh37 |
| NC_000004.10:g.6353922A>G | NCBI36 |
| NG_011700.1:g.36445A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1535A>G | ENSP00000507852.1:p.Asn512Ser | |
| ENST00000683395.1:c.1476A>G | ||
| ENST00000684087.1:c.1499A>G | ENSP00000506978.1:p.Asn500Ser | |
| ENST00000506362.2:c.1250A>G | ENSP00000424103.2:p.Asn417Ser | |
| ENST00000673642.1:c.1158A>G | ENSP00000501242.1:p.Gln386= | |
| ENST00000673991.1:c.1535A>G | ENSP00000501033.1:p.Asn512Ser | |
| ENST00000226760.5:c.1499A>G MANE Select | ENSP00000226760.1:p.Asn500Ser | |
| ENST00000503569.5:c.1499A>G | ENSP00000423337.1:p.Asn500Ser | |
| ENST00000507765.1:n.1684A>G | ||
| NM_001145853.1:c.1499A>G | NP_001139325.1:p.Asn500Ser | |
| NM_006005.3:c.1499A>G MANE Select | NP_005996.2:p.Asn500Ser | |
| XM_017008586.1:c.1508A>G | XP_016864075.1:p.Asn503Ser |