Revel Score:
ENST00000268124 (MANE Select)
0.926
ENST00000442287
0.926
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007509 (SAS)
Exomes Max Group AF
0.00007127 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318553T>C , CM000677.2:g.89318553T>C | GRCh38 |
| NC_000015.9:g.89861784T>C , CM000677.1:g.89861784T>C | GRCh37 |
| NC_000015.8:g.87662788T>C | NCBI36 |
| NG_008218.1:g.21243A>G | |
| NG_011736.1:g.79591T>C , LRG_500:g.79591T>C | |
| NG_008218.2:g.21243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3470A>G | ENSP00000516154.1:p.Asn1157Ser | |
| ENST00000268124.11:c.3470A>G MANE Select | ENSP00000268124.5:p.Asn1157Ser | |
| ENST00000530292.3:c.3071A>G | ENSP00000432885.2:p.Asn1024Ser | |
| ENST00000635986.2:c.*540A>G | ENSP00000490653.2:n.*540A>G | |
| ENST00000636774.1:c.*2037A>G | ENSP00000489799.1:n.*2037A>G | |
| ENST00000637238.1:c.2279A>G | ENSP00000490756.1:n.2279A>G | |
| ENST00000637264.1:c.2542A>G | ||
| ENST00000666746.1:c.3047A>G | ||
| ENST00000672071.1:n.3668A>G | ||
| ENST00000672695.1:n.647A>G | ||
| ENST00000672923.2:n.3470A>G | ||
| ENST00000268124.9:c.3470A>G | ENSP00000268124.5:p.Asn1157Ser | |
| ENST00000442287.6:c.3470A>G | ENSP00000399851.2:p.Asn1157Ser | |
| ENST00000530292.2:c.554A>G | ENSP00000432885.1:p.Asn185Ser | |
| ENST00000631044.2:c.*2894A>G | ENSP00000486730.1:n.*2894A>G | |
| NM_001126131.1:c.3470A>G | NP_001119603.1:p.Asn1157Ser | |
| NM_002693.2:c.3470A>G | NP_002684.1:p.Asn1157Ser | |
| NM_001126131.2:c.3470A>G | NP_001119603.1:p.Asn1157Ser | |
| NM_002693.3:c.3470A>G MANE Select | NP_002684.1:p.Asn1157Ser |