Revel Score:
ENST00000449260
0.142
ENST00000552882
0.142
ENST00000548747 (MANE Select)
0.142
ENST00000548493
0.142
ENST00000360714
0.142
ENST00000536427
0.142
ENST00000550447
0.142
ENST00000548803
0.142
ENST00000547137
0.142
ENST00000549418
0.142
ENST00000549233
0.142
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000953 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55961319T>C , CM000674.2:g.55961319T>C | GRCh38 |
| NC_000012.11:g.56355103T>C , CM000674.1:g.56355103T>C | GRCh37 |
| NC_000012.10:g.54641370T>C | NCBI36 |
| NG_028086.1:g.10394A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000548747.6:c.332A>G MANE Select | ENSP00000448828.1:p.Asn111Ser | |
| ENST00000449260.6:c.332A>G | ENSP00000402758.2:p.Asn111Ser | |
| ENST00000546543.5:c.187+303A>G | ENSP00000446662.1:n.187+303A>G | |
| ENST00000547137.5:c.332A>G | ENSP00000448849.1:p.Asn111Ser | |
| ENST00000548493.5:c.332A>G | ENSP00000447374.1:p.Asn111Ser | |
| ENST00000548689.5:n.288A>G | ||
| ENST00000548747.5:c.332A>G | ENSP00000448828.1:p.Asn111Ser | |
| ENST00000548803.5:c.332A>G | ENSP00000447732.1:p.Asn111Ser | |
| ENST00000549233.2:c.341A>G | ENSP00000448871.1:p.Asn114Ser | |
| ENST00000549413.1:n.342A>G | ||
| ENST00000549418.5:c.332A>G | ENSP00000446633.1:p.Asn111Ser | |
| ENST00000549430.5:n.288A>G | ||
| ENST00000550447.5:c.221A>G | ENSP00000448029.1:p.Asn74Ser | |
| ENST00000550464.5:c.77-2712A>G | ENSP00000450036.1:n.77-2712A>G | |
| ENST00000550590.5:n.363A>G | ||
| ENST00000552882.5:c.332A>G | ENSP00000449690.1:p.Asn111Ser | |
| NM_001200053.1:c.77-2712A>G | NP_001186982.1:n.77-2712A>G | |
| NM_001200054.1:c.332A>G | NP_001186983.1:p.Asn111Ser | |
| NM_006928.4:c.332A>G | NP_008859.1:p.Asn111Ser | |
| XM_006719569.1:c.332A>G | XP_006719632.1:p.Asn111Ser | |
| XM_011538685.1:c.332A>G | XP_011536987.1:p.Asn111Ser | |
| XM_011538686.1:c.332A>G | XP_011536988.1:p.Asn111Ser | |
| XM_011538687.1:c.332A>G | XP_011536989.1:p.Asn111Ser | |
| NM_001320121.1:c.332A>G | NP_001307050.1:p.Asn111Ser | |
| NM_001320122.1:c.332A>G | NP_001307051.1:p.Asn111Ser | |
| NM_001384361.1:c.332A>G MANE Select | NP_001371290.1:p.Asn111Ser | |
| NM_006928.5:c.332A>G | NP_008859.1:p.Asn111Ser |