Revel Score:
ENST00000307378
0.449
ENST00000452078
0.449
ENST00000458504
0.449
ENST00000537524
0.449
ENST00000390670
0.449
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21304514G>T , CM000674.2:g.21304514G>T | GRCh38 |
| NC_000012.11:g.21457448G>T , CM000674.1:g.21457448G>T | GRCh37 |
| NC_000012.10:g.21348715G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683939.1:c.502C>A MANE Select | ENSP00000508235.1:p.Arg168Ser | |
| ENST00000307378.10:c.502C>A | ENSP00000305974.6:p.Arg168Ser | |
| ENST00000458504.5:c.106C>A | ENSP00000394854.1:p.Arg36Ser | |
| ENST00000463718.5:n.793C>A | ||
| ENST00000480394.5:n.530C>A | ||
| ENST00000544020.5:c.*81C>A | ENSP00000440154.1:n.*81C>A | |
| ENST00000544290.5:c.*81C>A | ENSP00000438348.1:n.*81C>A | |
| NM_021094.3:c.502C>A | NP_066580.1:p.Arg168Ser | |
| NM_134431.3:c.502C>A | NP_602307.1:p.Arg168Ser | |
| XM_005253474.3:c.502C>A | XP_005253531.1:p.Arg168Ser | |
| XM_005253477.2:c.442C>A | XP_005253534.1:p.Arg148Ser | |
| XM_011520818.1:c.502C>A | XP_011519120.1:p.Arg168Ser | |
| XM_011520819.1:c.502C>A | XP_011519121.1:p.Arg168Ser | |
| XM_011520820.1:c.496C>A | XP_011519122.1:p.Arg166Ser | |
| XM_005253477.3:c.442C>A | XP_005253534.1:p.Arg148Ser | |
| XM_011520820.3:c.496C>A | XP_011519122.1:p.Arg166Ser | |
| XM_017019849.1:c.502C>A | XP_016875338.1:p.Arg168Ser | |
| XM_017019850.1:c.442C>A | XP_016875339.1:p.Arg148Ser | |
| XM_024449138.1:c.502C>A | XP_024304906.1:p.Arg168Ser | |
| XM_024449139.1:c.502C>A | XP_024304907.1:p.Arg168Ser | |
| NM_021094.4:c.502C>A | NP_066580.1:p.Arg168Ser | |
| NM_001386878.1:c.502C>A | NP_001373807.1:p.Arg168Ser | |
| NM_001386879.1:c.502C>A MANE Select | NP_001373808.1:p.Arg168Ser | |
| NM_001386880.1:c.502C>A | NP_001373809.1:p.Arg168Ser | |
| NM_001386881.1:c.502C>A | NP_001373810.1:p.Arg168Ser | |
| NM_001386882.1:c.502C>A | NP_001373811.1:p.Arg168Ser | |
| NM_001386886.1:c.496C>A | NP_001373815.1:p.Arg166Ser | |
| NM_001386887.1:c.502C>A | NP_001373816.1:p.Arg168Ser | |
| NM_001386890.1:c.34C>A | NP_001373819.1:p.Arg12Ser | |
| NM_001386908.1:c.241C>A | NP_001373837.1:p.Arg81Ser | |
| NM_001386919.1:c.241C>A | NP_001373848.1:p.Arg81Ser | |
| NM_001386920.1:c.34C>A | NP_001373849.1:p.Arg12Ser | |
| NM_001386921.1:c.202C>A | NP_001373850.1:p.Arg68Ser | |
| NM_001386922.1:c.106C>A | NP_001373851.1:p.Arg36Ser | |
| NM_001386926.1:c.496C>A | NP_001373855.1:p.Arg166Ser | |
| NM_001386927.1:c.241C>A | NP_001373856.1:p.Arg81Ser | |
| NM_001386929.1:c.106C>A | NP_001373858.1:p.Arg36Ser | |
| NM_001386931.1:c.34C>A | NP_001373860.1:p.Arg12Ser | |
| NM_001386937.1:c.106C>A | NP_001373866.1:p.Arg36Ser | |
| NM_001386938.1:c.106C>A | NP_001373867.1:p.Arg36Ser | |
| NM_001386939.1:c.106C>A | NP_001373868.1:p.Arg36Ser | |
| NM_001386940.1:c.106C>A | NP_001373869.1:p.Arg36Ser | |
| NM_001386946.1:c.442C>A | NP_001373875.1:p.Arg148Ser | |
| NM_001386947.1:c.496C>A | NP_001373876.1:p.Arg166Ser | |
| NM_001386948.1:c.442C>A | NP_001373877.1:p.Arg148Ser | |
| NM_001386949.1:c.496C>A | NP_001373878.1:p.Arg166Ser | |
| NM_001386951.1:c.442C>A | NP_001373880.1:p.Arg148Ser | |
| NM_001386952.1:c.442C>A | NP_001373881.1:p.Arg148Ser | |
| NM_001386953.1:c.34C>A | NP_001373882.1:p.Arg12Ser | |
| NM_001386954.1:c.34C>A | NP_001373883.1:p.Arg12Ser | |
| NM_001386958.1:c.442C>A | NP_001373887.1:p.Arg148Ser | |
| NM_001386959.1:c.442C>A | NP_001373888.1:p.Arg148Ser | |
| NM_001386960.1:c.496C>A | NP_001373889.1:p.Arg166Ser | |
| NM_001386961.1:c.34C>A | NP_001373890.1:p.Arg12Ser | |
| NM_001386962.1:c.106C>A | NP_001373891.1:p.Arg36Ser | |
| NM_001386963.1:c.241C>A | NP_001373892.1:p.Arg81Ser | |
| NM_134431.5:c.502C>A | NP_602307.1:p.Arg168Ser | |
| NR_170340.1:n.608C>A | ||
| NR_170341.1:n.501C>A | ||
| NR_170343.1:n.608C>A | ||
| NM_001386882.2:c.502C>A | NP_001373811.1:p.Arg168Ser |