Revel Score:
ENST00000393895
0.066
ENST00000524228
0.066
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168467849C>T , CM000667.2:g.168467849C>T | GRCh38 |
| NC_000005.9:g.167894854C>T , CM000667.1:g.167894854C>T | GRCh37 |
| NC_000005.8:g.167827432C>T | NCBI36 |
| NG_016712.1:g.180790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265293.9:c.3160C>T MANE Select | ENSP00000265293.4:p.Arg1054Ter | |
| ENST00000265293.8:c.3160C>T | ENSP00000265293.4:p.Arg1054Ter | |
| ENST00000393895.7:c.3059C>T | ||
| ENST00000518204.1:n.157C>T | ||
| ENST00000521089.5:c.3178C>T | ENSP00000427772.1:p.Arg1060Ter | |
| ENST00000521391.1:n.42C>T | ||
| ENST00000522140.1:n.976C>T | ||
| ENST00000524038.5:c.1153C>T | ENSP00000428084.1:p.Arg385Ter | |
| ENST00000524228.5:c.2486C>T | ||
| ENST00000619752.1:c.976C>T | ENSP00000483898.1:p.Arg326Ter | |
| NM_001161661.1:c.3178C>T | NP_001155133.1:p.Arg1060Ter | |
| NM_001161662.1:c.3175C>T | NP_001155134.1:p.Arg1059Ter | |
| NM_015238.2:c.3160C>T | NP_056053.1:p.Arg1054Ter | |
| XM_005265850.1:c.3193C>T | XP_005265907.1:p.Arg1065Ter | |
| XM_005265853.1:c.3157C>T | XP_005265910.1:p.Arg1053Ter | |
| XM_011534485.1:c.3376C>T | XP_011532787.1:p.Arg1126Ter | |
| XM_011534486.1:c.3373C>T | XP_011532788.1:p.Arg1125Ter | |
| XM_011534487.1:c.3361C>T | XP_011532789.1:p.Arg1121Ter | |
| XM_011534488.1:c.3358C>T | XP_011532790.1:p.Arg1120Ter | |
| XM_011534489.1:c.3358C>T | XP_011532791.1:p.Arg1120Ter | |
| XM_011534490.1:c.3355C>T | XP_011532792.1:p.Arg1119Ter | |
| XM_011534491.1:c.3343C>T | XP_011532793.1:p.Arg1115Ter | |
| XM_005265853.2:c.3157C>T | XP_005265910.1:p.Arg1053Ter | |
| XM_017009276.1:c.3340C>T | XP_016864765.1:p.Arg1114Ter | |
| XM_017009278.1:c.2911C>T | XP_016864767.1:p.Arg971Ter | |
| NM_001161661.2:c.3178C>T | NP_001155133.1:p.Arg1060Ter | |
| NM_001161662.2:c.3175C>T | NP_001155134.1:p.Arg1059Ter | |
| NM_015238.3:c.3160C>T MANE Select | NP_056053.1:p.Arg1054Ter |