Revel Score:
ENST00000017003 (MANE Select)
0.059
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00151244 (AMR)
Genomes Max Group AF
0.00021468 (AMR)
Exomes Max Group AF
0.00188743 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50360005A>G , CM000679.2:g.50360005A>G | GRCh38 |
| NC_000017.10:g.48437366A>G , CM000679.1:g.48437366A>G | GRCh37 |
| NC_000017.9:g.45792365A>G | NCBI36 |
| NG_012175.1:g.18974A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000017003.7:c.2312A>G MANE Select | ENSP00000017003.2:p.Asn771Ser | |
| ENST00000017003.6:c.2312A>G | ENSP00000017003.2:p.Asn771Ser | |
| ENST00000376550.7:c.*196A>G | ENSP00000365733.3:n.*196A>G | |
| ENST00000507602.5:c.1941+2753A>G | ENSP00000426501.1:n.1941+2753A>G | |
| ENST00000571021.1:n.1028A>G | ||
| NM_022167.3:c.2312A>G | NP_071450.2:p.Asn771Ser | |
| NR_110010.1:n.2225A>G | ||
| XM_005257572.3:c.2216A>G | XP_005257629.1:p.Asn739Ser | |
| XM_011525114.1:c.1721A>G | XP_011523416.1:p.Asn574Ser | |
| XM_005257572.4:c.2216A>G | XP_005257629.1:p.Asn739Ser | |
| NM_022167.4:c.2312A>G MANE Select | NP_071450.2:p.Asn771Ser | |
| NR_110010.2:n.2131A>G |