ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10906633G>T , CM000678.2:g.10906633G>T | GRCh38 |
| NC_000016.9:g.11000490G>T , CM000678.1:g.11000490G>T | GRCh37 |
| NC_000016.8:g.10907991G>T | NCBI36 |
| NG_009628.1:g.34436G>T , LRG_49:g.34436G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.1166G>T | ||
| ENST00000324288.14:c.1141G>T MANE Select | ENSP00000316328.8:p.Glu381Ter | |
| ENST00000324288.12:c.1141G>T | ENSP00000316328.8:p.Glu381Ter | |
| ENST00000381835.9:c.859+1821G>T | ENSP00000371257.5:n.859+1821G>T | |
| ENST00000537380.1:n.1006+1821G>T | ||
| ENST00000570546.5:n.1262G>T | ||
| ENST00000573309.5:n.1112G>T | ||
| ENST00000611587.4:c.997G>T | ENSP00000483487.1:p.Glu333Ter | |
| ENST00000618207.4:c.1006+1821G>T | ENSP00000484761.1:n.1006+1821G>T | |
| ENST00000618327.4:c.1144G>T | ENSP00000485010.1:p.Glu382Ter | |
| NM_000246.3:c.1141G>T , LRG_49t1:c.1141G>T | NP_000237.2:p.Glu381Ter | |
| NM_001286402.1:c.1144G>T | NP_001273331.1:p.Glu382Ter | |
| NM_001286403.1:c.859+1821G>T | NP_001273332.1:n.859+1821G>T | |
| NR_104444.1:n.1139+1821G>T | ||
| XM_006720880.2:c.1438G>T | XP_006720943.2:p.Glu480Ter | |
| XM_011522484.1:c.1438G>T | XP_011520786.1:p.Glu480Ter | |
| XM_011522485.1:c.1438G>T | XP_011520787.1:p.Glu480Ter | |
| XM_011522486.1:c.1438G>T | XP_011520788.1:p.Glu480Ter | |
| XM_011522487.1:c.1192G>T | XP_011520789.1:p.Glu398Ter | |
| XM_011522488.1:c.1189G>T | XP_011520790.1:p.Glu397Ter | |
| XM_011522489.1:c.1189G>T | XP_011520791.1:p.Glu397Ter | |
| XM_011522490.1:c.1186G>T | XP_011520792.1:p.Glu396Ter | |
| XM_011522491.1:c.1438G>T | XP_011520793.1:p.Glu480Ter | |
| XM_011522492.1:c.1144G>T | XP_011520794.1:p.Glu382Ter | |
| XM_011522493.1:c.1141G>T | XP_011520795.1:p.Glu381Ter | |
| XM_011522494.1:c.1072G>T | XP_011520796.1:p.Glu358Ter | |
| XM_011522495.1:c.997G>T | XP_011520797.1:p.Glu333Ter | |
| XM_011522496.1:c.994G>T | XP_011520798.1:p.Glu332Ter | |
| XR_932841.1:n.1453G>T | ||
| XR_932842.1:n.1453G>T | ||
| XR_932843.1:n.1453G>T | ||
| XR_932846.1:n.1453G>T | ||
| XR_932847.1:n.1453G>T | ||
| XR_932848.1:n.1009+1821G>T | ||
| XM_006720880.3:c.1438G>T | XP_006720943.2:p.Glu480Ter | |
| XM_011522484.3:c.1438G>T | XP_011520786.1:p.Glu480Ter | |
| XM_011522485.2:c.1438G>T | XP_011520787.1:p.Glu480Ter | |
| XM_011522486.2:c.1438G>T | XP_011520788.1:p.Glu480Ter | |
| XM_011522487.2:c.1192G>T | XP_011520789.1:p.Glu398Ter | |
| XM_011522488.2:c.1189G>T | XP_011520790.1:p.Glu397Ter | |
| XM_011522489.2:c.1189G>T | XP_011520791.1:p.Glu397Ter | |
| XM_011522490.2:c.1186G>T | XP_011520792.1:p.Glu396Ter | |
| XM_011522491.2:c.1438G>T | XP_011520793.1:p.Glu480Ter | |
| XM_011522492.2:c.1144G>T | XP_011520794.1:p.Glu382Ter | |
| XM_011522493.2:c.1141G>T | XP_011520795.1:p.Glu381Ter | |
| XM_011522494.2:c.1072G>T | XP_011520796.1:p.Glu358Ter | |
| XM_011522495.2:c.997G>T | XP_011520797.1:p.Glu333Ter | |
| XM_011522496.2:c.994G>T | XP_011520798.1:p.Glu332Ter | |
| XM_024450280.1:c.1384G>T | XP_024306048.1:p.Glu462Ter | |
| XM_024450281.1:c.1237G>T | XP_024306049.1:p.Glu413Ter | |
| XR_001751904.1:n.1457G>T | ||
| XR_932841.3:n.1455G>T | ||
| XR_932842.2:n.1455G>T | ||
| XR_932846.3:n.1457G>T | ||
| XR_932847.3:n.1457G>T | ||
| NM_001286403.2:c.859+1821G>T | NP_001273332.1:n.859+1821G>T | |
| NR_104444.2:n.1135+1821G>T | ||
| NM_000246.4:c.1141G>T MANE Select | NP_000237.2:p.Glu381Ter | |
| NM_001379330.1:c.997G>T | NP_001366259.1:p.Glu333Ter | |
| NM_001379331.1:c.994G>T | NP_001366260.1:p.Glu332Ter | |
| NM_001379332.1:c.1144G>T | NP_001366261.1:p.Glu382Ter | |
| NM_001379333.1:c.1141G>T | NP_001366262.1:p.Glu381Ter | |
| NM_001379334.1:c.1072G>T | NP_001366263.1:p.Glu358Ter |