Revel Score:
ENST00000511072
0.091
ENST00000378398
0.091
ENST00000441472
0.091
ENST00000442529
0.091
ENST00000378391
0.091
ENST00000514189
0.091
ENST00000270722 (MANE Select)
0.091
ENST00000512462
0.091
ENST00000408992
0.091
ENST00000509860
0.091
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00158541 (SAS)
Genomes Max Group AF
0.00040753 (SAS)
Exomes Max Group AF
0.00162214 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3412644A>G , CM000663.2:g.3412644A>G | GRCh38 |
| NC_000001.10:g.3329208A>G , CM000663.1:g.3329208A>G | GRCh37 |
| NC_000001.9:g.3319068A>G | NCBI36 |
| NG_029576.1:g.348467A>G | |
| NG_029576.2:g.348467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270722.10:c.2447A>G MANE Select | ENSP00000270722.5:p.Asn816Ser | |
| ENST00000270722.9:c.2447A>G | ENSP00000270722.5:p.Asn816Ser | |
| ENST00000378391.6:c.2447A>G | ENSP00000367643.2:p.Asn816Ser | |
| ENST00000509860.1:c.1874A>G | ENSP00000425796.1:p.Asn625Ser | |
| ENST00000511072.5:c.2450A>G | ENSP00000426975.1:p.Asn817Ser | |
| ENST00000512462.5:n.2225A>G | ||
| ENST00000514189.5:c.2450A>G | ENSP00000421400.1:p.Asn817Ser | |
| NM_022114.3:c.2447A>G | NP_071397.3:p.Asn816Ser | |
| NM_199454.2:c.2447A>G | NP_955533.2:p.Asn816Ser | |
| XM_005244772.3:c.2450A>G | XP_005244829.1:p.Asn817Ser | |
| XM_005244773.3:c.2450A>G | XP_005244830.1:p.Asn817Ser | |
| XM_005244774.3:c.2450A>G | XP_005244831.1:p.Asn817Ser | |
| XM_006710814.2:c.2450A>G | XP_006710877.1:p.Asn817Ser | |
| XM_011541944.1:c.2450A>G | XP_011540246.1:p.Asn817Ser | |
| XM_011541945.1:c.1895A>G | XP_011540247.1:p.Asn632Ser | |
| XM_005244772.5:c.2450A>G | XP_005244829.1:p.Asn817Ser | |
| XM_005244773.5:c.2450A>G | XP_005244830.1:p.Asn817Ser | |
| XM_005244774.5:c.2450A>G | XP_005244831.1:p.Asn817Ser | |
| XM_006710814.4:c.2450A>G | XP_006710877.1:p.Asn817Ser | |
| XM_011541945.2:c.1895A>G | XP_011540247.1:p.Asn632Ser | |
| XM_017002050.1:c.2447A>G | XP_016857539.1:p.Asn816Ser | |
| NM_022114.4:c.2447A>G MANE Select | NP_071397.3:p.Asn816Ser | |
| NM_199454.3:c.2447A>G | NP_955533.2:p.Asn816Ser |