Revel Score:
ENST00000357249
0.552
ENST00000359125 (MANE Select)
0.552
ENST00000370226
0.552
ENST00000354587
0.552
ENST00000359689
0.552
ENST00000430658
0.552
ENST00000360480
0.552
ENST00000344462
0.552
ENST00000370224
0.552
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005304 (NFE)
Genomes Max Group AF
0.00009049 (NFE)
Exomes Max Group AF
0.00004727 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406650C>A , CM000682.2:g.63406650C>A | GRCh38 |
| NC_000020.10:g.62038003C>A , CM000682.1:g.62038003C>A | GRCh37 |
| NC_000020.9:g.61508447C>A | NCBI36 |
| NG_009004.1:g.70991G>T | |
| NG_009004.2:g.70991G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2667G>T | ENSP00000516702.1:p.Arg889Ser | |
| ENST00000359125.7:c.2613G>T MANE Select | ENSP00000352035.2:p.Arg871Ser | |
| ENST00000637193.1:c.2010G>T | ENSP00000490734.1:p.Arg670Ser | |
| ENST00000344462.8:c.2520G>T | ENSP00000339611.4:p.Arg840Ser | |
| ENST00000357249.6:c.2181G>T | ENSP00000349789.3:p.Arg727Ser | |
| ENST00000359125.6:c.2613G>T | ENSP00000352035.2:p.Arg871Ser | |
| ENST00000360480.7:c.2529G>T | ENSP00000353668.3:p.Arg843Ser | |
| ENST00000370224.5:c.2241+396G>T | ENSP00000359244.2:n.2241+396G>T | |
| ENST00000625514.2:c.2205+396G>T | ENSP00000486040.1:n.2205+396G>T | |
| ENST00000626839.2:c.2559G>T | ENSP00000486706.1:p.Arg853Ser | |
| ENST00000629241.2:c.2133+396G>T | ENSP00000487142.1:n.2133+396G>T | |
| ENST00000629676.2:c.1680-5807G>T | ENSP00000486194.1:n.1680-5807G>T | |
| NM_004518.4:c.2529G>T | NP_004509.2:p.Arg843Ser | |
| NM_172106.1:c.2559G>T | NP_742104.1:p.Arg853Ser | |
| NM_172107.2:c.2613G>T | NP_742105.1:p.Arg871Ser | |
| NM_172108.3:c.2520G>T | NP_742106.1:p.Arg840Ser | |
| XM_006723787.1:c.2655G>T | XP_006723850.1:p.Arg885Ser | |
| XM_011528807.1:c.2721G>T | XP_011527109.1:p.Arg907Ser | |
| XM_011528808.1:c.2718G>T | XP_011527110.1:p.Arg906Ser | |
| XM_011528809.1:c.2691G>T | XP_011527111.1:p.Arg897Ser | |
| XM_011528810.1:c.2667G>T | XP_011527112.1:p.Arg889Ser | |
| XM_011528811.1:c.2637G>T | XP_011527113.1:p.Arg879Ser | |
| XM_011528812.1:c.2610G>T | XP_011527114.1:p.Arg870Ser | |
| XM_011528813.1:c.2595G>T | XP_011527115.1:p.Arg865Ser | |
| XM_011528814.1:c.2202G>T | XP_011527116.1:p.Arg734Ser | |
| NM_004518.5:c.2529G>T | NP_004509.2:p.Arg843Ser | |
| NM_172106.2:c.2559G>T | NP_742104.1:p.Arg853Ser | |
| NM_172107.3:c.2613G>T | NP_742105.1:p.Arg871Ser | |
| NM_172108.4:c.2520G>T | NP_742106.1:p.Arg840Ser | |
| XM_011528810.2:c.2667G>T | XP_011527112.1:p.Arg889Ser | |
| XM_011528811.2:c.2637G>T | XP_011527113.1:p.Arg879Ser | |
| XM_017027841.2:c.2664G>T | XP_016883330.1:p.Arg888Ser | |
| XM_017027842.2:c.2601G>T | XP_016883331.1:p.Arg867Ser | |
| XM_017027843.1:c.2598G>T | XP_016883332.1:p.Arg866Ser | |
| XM_017027844.2:c.2556G>T | XP_016883333.1:p.Arg852Ser | |
| XM_017027845.1:c.1629G>T | XP_016883334.1:p.Arg543Ser | |
| NM_004518.6:c.2529G>T | NP_004509.2:p.Arg843Ser | |
| NM_172106.3:c.2559G>T | NP_742104.1:p.Arg853Ser | |
| NM_172107.4:c.2613G>T MANE Select | NP_742105.1:p.Arg871Ser | |
| NM_172108.5:c.2520G>T | NP_742106.1:p.Arg840Ser | |
| NM_001382235.1:c.2667G>T | NP_001369164.1:p.Arg889Ser |