Revel Score:
ENST00000316534
0.022
ENST00000393272
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0006152 (EAS)
Genomes Max Group AF
0.0003803 (EAS)
Exomes Max Group AF
0.00058708 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110164599T>C , CM000664.2:g.110164599T>C | GRCh38 |
| NC_000002.11:g.110922176T>C , CM000664.1:g.110922176T>C | GRCh37 |
| NC_000002.10:g.110279465T>C | NCBI36 |
| NG_008287.1:g.45464A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.771+89A>G MANE Select | ENSP00000389879.3:n.771+89A>G | |
| ENST00000674677.1:c.702+89A>G | ENSP00000502265.1:n.702+89A>G | |
| ENST00000675067.1:c.-1494A>G | ENSP00000502817.1:n.-1494A>G | |
| ENST00000675356.1:n.899A>G | ||
| ENST00000675752.1:n.893A>G | ||
| ENST00000676028.1:c.771+89A>G | ENSP00000502639.1:n.771+89A>G | |
| ENST00000676053.1:c.585+89A>G | ENSP00000502475.1:n.585+89A>G | |
| ENST00000676091.1:c.150+89A>G | ENSP00000502528.1:n.150+89A>G | |
| ENST00000676165.1:n.899A>G | ||
| ENST00000676258.1:n.1862+89A>G | ||
| ENST00000316534.8:c.860A>G | ENSP00000313169.4:p.Asn287Ser | |
| ENST00000355301.8:c.585+89A>G | ENSP00000347452.4:n.585+89A>G | |
| ENST00000393272.7:c.860A>G | ENSP00000376953.3:p.Asn287Ser | |
| ENST00000417665.5:c.771+89A>G | ENSP00000402176.1:n.771+89A>G | |
| ENST00000445609.6:c.771+89A>G | ENSP00000389879.2:n.771+89A>G | |
| ENST00000461707.5:n.893A>G | ||
| ENST00000496524.5:n.909A>G | ||
| NM_000272.3:c.860A>G | NP_000263.2:p.Asn287Ser | |
| NM_001128178.1:c.771+89A>G | NP_001121650.1:n.771+89A>G | |
| NM_001128179.1:c.585+89A>G | NP_001121651.1:n.585+89A>G | |
| NM_207181.2:c.860A>G | NP_997064.2:p.Asn287Ser | |
| XM_005263675.1:c.860A>G | XP_005263732.1:p.Asn287Ser | |
| XM_005263676.1:c.771+89A>G | XP_005263733.1:n.771+89A>G | |
| XM_005263677.1:c.771+89A>G | XP_005263734.1:n.771+89A>G | |
| XM_005263678.2:c.860A>G | XP_005263735.1:p.Asn287Ser | |
| XM_005263679.1:c.771+89A>G | XP_005263736.1:n.771+89A>G | |
| XM_006712551.1:c.860A>G | XP_006712614.1:p.Asn287Ser | |
| XM_006712552.2:c.860A>G | XP_006712615.1:p.Asn287Ser | |
| XM_011511244.1:c.860A>G | XP_011509546.1:p.Asn287Ser | |
| XM_017004218.1:c.771+89A>G | XP_016859707.1:n.771+89A>G | |
| NM_000272.4:c.860A>G | NP_000263.2:p.Asn287Ser | |
| NM_001128178.3:c.771+89A>G MANE Select | NP_001121650.1:n.771+89A>G | |
| NM_001128179.2:c.585+89A>G | NP_001121651.1:n.585+89A>G | |
| NM_001374256.1:c.771+89A>G | NP_001361185.1:n.771+89A>G | |
| NM_001374257.1:c.771+89A>G | NP_001361186.1:n.771+89A>G | |
| NM_207181.3:c.860A>G | NP_997064.2:p.Asn287Ser | |
| NM_000272.5:c.860A>G | NP_000263.2:p.Asn287Ser | |
| NM_001128179.3:c.585+89A>G | NP_001121651.1:n.585+89A>G | |
| NM_207181.4:c.860A>G | NP_997064.2:p.Asn287Ser |