Revel Score:
ENST00000355832 (MANE Select)
0.096
ENST00000374129
0.096
ENST00000542458
0.096
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0009463 (EAS)
Genomes Max Group AF
0.00015677 (EAS)
Exomes Max Group AF
0.00100348 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470769T>C , CM000672.2:g.49470769T>C | GRCh38 |
| NC_000010.10:g.50678815T>C , CM000672.1:g.50678815T>C | GRCh37 |
| NC_000010.9:g.50348821T>C | NCBI36 |
| NG_009442.1:g.73333A>G , LRG_465:g.73333A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3191A>G MANE Select | ENSP00000348089.5:p.Asn1064Ser | |
| ENST00000679552.1:n.262A>G | ||
| ENST00000679871.1:n.337A>G | ||
| ENST00000679974.1:n.240A>G | ||
| ENST00000681632.1:n.4594A>G | ||
| ENST00000681659.1:c.3032A>G | ENSP00000505631.1:p.Asn1011Ser | |
| ENST00000355832.9:c.3191A>G | ENSP00000348089.5:p.Asn1064Ser | |
| ENST00000623073.3:c.*1487A>G | ENSP00000485650.1:n.*1487A>G | |
| ENST00000623115.3:c.1301A>G | ENSP00000485321.1:p.Asn434Ser | |
| ENST00000624341.3:c.1023A>G | ||
| NM_000124.3:c.3191A>G | NP_000115.1:p.Asn1064Ser | |
| XR_945953.1:n.243-796T>C | ||
| NM_001346440.1:c.3191A>G | NP_001333369.1:p.Asn1064Ser | |
| NM_000124.4:c.3191A>G MANE Select | NP_000115.1:p.Asn1064Ser | |
| NM_001346440.2:c.3191A>G | NP_001333369.1:p.Asn1064Ser |