Revel Score:
ENST00000357249
0.478
ENST00000359125 (MANE Select)
0.478
ENST00000370226
0.478
ENST00000354587
0.478
ENST00000359689
0.478
ENST00000430658
0.478
ENST00000360480
0.478
ENST00000344462
0.478
ENST00000370224
0.478
ENST00000370222
0.478
ENST00000370221
0.478
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002331 (SAS)
Genomes Max Group AF
0.00000797 (AFR)
Exomes Max Group AF
0.00002436 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63424192G>A , CM000682.2:g.63424192G>A | GRCh38 |
| NC_000020.10:g.62055545G>A , CM000682.1:g.62055545G>A | GRCh37 |
| NC_000020.9:g.61525989G>A | NCBI36 |
| NG_009004.1:g.53449C>T | |
| NG_009004.2:g.53449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1232C>T | ENSP00000516702.1:p.Pro411Leu | |
| ENST00000359125.7:c.1232C>T MANE Select | ENSP00000352035.2:p.Pro411Leu | |
| ENST00000637193.1:c.683C>T | ENSP00000490734.1:p.Pro228Leu | |
| ENST00000637632.1:n.71C>T | ||
| ENST00000344462.8:c.1232C>T | ENSP00000339611.4:p.Pro411Leu | |
| ENST00000357249.6:c.890C>T | ENSP00000349789.3:p.Pro297Leu | |
| ENST00000359125.6:c.1232C>T | ENSP00000352035.2:p.Pro411Leu | |
| ENST00000360480.7:c.1202C>T | ENSP00000353668.3:p.Pro401Leu | |
| ENST00000370221.3:n.1358C>T | ||
| ENST00000370224.5:c.1202C>T | ENSP00000359244.2:p.Pro401Leu | |
| ENST00000625514.2:c.1202C>T | ENSP00000486040.1:p.Pro401Leu | |
| ENST00000626839.2:c.1232C>T | ENSP00000486706.1:p.Pro411Leu | |
| ENST00000627221.2:c.346C>T | ||
| ENST00000629241.2:c.1202C>T | ENSP00000487142.1:p.Pro401Leu | |
| ENST00000629676.2:c.1202C>T | ENSP00000486194.1:p.Pro401Leu | |
| NM_004518.4:c.1202C>T | NP_004509.2:p.Pro401Leu | |
| NM_172106.1:c.1232C>T | NP_742104.1:p.Pro411Leu | |
| NM_172107.2:c.1232C>T | NP_742105.1:p.Pro411Leu | |
| NM_172108.3:c.1232C>T | NP_742106.1:p.Pro411Leu | |
| XM_006723787.1:c.1232C>T | XP_006723850.1:p.Pro411Leu | |
| XM_011528807.1:c.1232C>T | XP_011527109.1:p.Pro411Leu | |
| XM_011528808.1:c.1232C>T | XP_011527110.1:p.Pro411Leu | |
| XM_011528809.1:c.1202C>T | XP_011527111.1:p.Pro401Leu | |
| XM_011528810.1:c.1232C>T | XP_011527112.1:p.Pro411Leu | |
| XM_011528811.1:c.1202C>T | XP_011527113.1:p.Pro401Leu | |
| XM_011528812.1:c.1232C>T | XP_011527114.1:p.Pro411Leu | |
| XM_011528813.1:c.1106C>T | XP_011527115.1:p.Pro369Leu | |
| XM_011528814.1:c.713C>T | XP_011527116.1:p.Pro238Leu | |
| XM_011528815.1:c.1232C>T | XP_011527117.1:p.Pro411Leu | |
| NM_004518.5:c.1202C>T | NP_004509.2:p.Pro401Leu | |
| NM_172106.2:c.1232C>T | NP_742104.1:p.Pro411Leu | |
| NM_172107.3:c.1232C>T | NP_742105.1:p.Pro411Leu | |
| NM_172108.4:c.1232C>T | NP_742106.1:p.Pro411Leu | |
| XM_011528810.2:c.1232C>T | XP_011527112.1:p.Pro411Leu | |
| XM_011528811.2:c.1202C>T | XP_011527113.1:p.Pro401Leu | |
| XM_017027841.2:c.1232C>T | XP_016883330.1:p.Pro411Leu | |
| XM_017027842.2:c.1232C>T | XP_016883331.1:p.Pro411Leu | |
| XM_017027843.1:c.1163C>T | XP_016883332.1:p.Pro388Leu | |
| XM_017027844.2:c.1232C>T | XP_016883333.1:p.Pro411Leu | |
| NM_004518.6:c.1202C>T | NP_004509.2:p.Pro401Leu | |
| NM_172106.3:c.1232C>T | NP_742104.1:p.Pro411Leu | |
| NM_172107.4:c.1232C>T MANE Select | NP_742105.1:p.Pro411Leu | |
| NM_172108.5:c.1232C>T | NP_742106.1:p.Pro411Leu | |
| NM_001382235.1:c.1232C>T | NP_001369164.1:p.Pro411Leu |