Revel Score:
ENST00000370096 (MANE Select)
0.710
ENST00000358392
0.710
ENST00000353414
0.710
ENST00000370090
0.710
ENST00000512756
0.710
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00238268 (SAS)
Genomes Max Group AF
0.00191687 (SAS)
Exomes Max Group AF
0.00235119 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102881734G>A , CM000663.2:g.102881734G>A | GRCh38 |
| NC_000001.10:g.103347290G>A , CM000663.1:g.103347290G>A | GRCh37 |
| NC_000001.9:g.103119878G>A | NCBI36 |
| NG_008033.1:g.231763C>T | |
| NG_008033.2:g.231763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.5003C>T MANE Select | ENSP00000359114.3:p.Pro1668Leu | |
| ENST00000639098.1:n.376C>T | ||
| ENST00000353414.8:c.4886C>T | ENSP00000302551.6:p.Pro1629Leu | |
| ENST00000358392.6:c.5039C>T | ENSP00000351163.2:p.Pro1680Leu | |
| ENST00000370096.7:c.5003C>T | ENSP00000359114.3:p.Pro1668Leu | |
| ENST00000512756.5:c.4655C>T | ENSP00000426533.1:p.Pro1552Leu | |
| ENST00000635193.1:c.4337C>T | ||
| NM_001190709.1:c.4886C>T | NP_001177638.1:p.Pro1629Leu | |
| NM_001854.3:c.5003C>T | NP_001845.3:p.Pro1668Leu | |
| NM_080629.2:c.5039C>T | NP_542196.2:p.Pro1680Leu | |
| NM_080630.3:c.4655C>T | NP_542197.3:p.Pro1552Leu | |
| XM_011540720.1:c.3236C>T | XP_011539022.1:p.Pro1079Leu | |
| XM_011540721.1:c.2591C>T | XP_011539023.1:p.Pro864Leu | |
| NR_134980.1:n.5337C>T | ||
| XM_017000334.1:c.5156C>T | XP_016855823.1:p.Pro1719Leu | |
| XM_017000335.1:c.5150C>T | XP_016855824.1:p.Pro1717Leu | |
| XM_017000337.1:c.3554C>T | XP_016855826.1:p.Pro1185Leu | |
| NM_001854.4:c.5003C>T MANE Select | NP_001845.3:p.Pro1668Leu | |
| NM_080630.4:c.4655C>T | NP_542197.3:p.Pro1552Leu | |
| NR_134980.2:n.5363C>T | ||
| NM_001190709.2:c.4886C>T | NP_001177638.1:p.Pro1629Leu | |
| NM_080629.3:c.5039C>T | NP_542196.2:p.Pro1680Leu |