ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000065 (AMR)
Exomes Max Group AF
0.00000928 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46534448C>A , CM000680.2:g.46534448C>A | GRCh38 |
| NC_000018.9:g.44114411C>A , CM000680.1:g.44114411C>A | GRCh37 |
| NC_000018.8:g.42368409C>A | NCBI36 |
| NG_016646.1:g.127586G>T | |
| NG_016646.2:g.127586G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300591.11:c.766G>T | ENSP00000300591.6:p.Glu256Ter | |
| ENST00000579038.6:c.478G>T | ENSP00000463285.1:p.Glu160Ter | |
| ENST00000582408.6:c.766G>T | ENSP00000461964.1:p.Glu256Ter | |
| ENST00000642948.1:c.4099G>T MANE Select | ENSP00000496347.1:p.Glu1367Ter | |
| ENST00000300591.10:c.766G>T | ENSP00000300591.6:p.Glu256Ter | |
| ENST00000335730.6:n.3412G>T | ||
| ENST00000441551.6:c.3481G>T | ENSP00000387621.2:p.Glu1161Ter | |
| ENST00000536111.1:c.805G>T | ENSP00000440060.1:p.Glu269Ter | |
| ENST00000536736.5:c.4099G>T | ENSP00000444586.1:p.Glu1367Ter | |
| ENST00000579038.5:c.478G>T | ENSP00000463285.1:p.Glu160Ter | |
| ENST00000582408.5:c.766G>T | ENSP00000461964.1:p.Glu256Ter | |
| NM_001145472.2:c.766G>T | NP_001138944.1:p.Glu256Ter | |
| NM_001308013.1:c.478G>T | NP_001294942.1:p.Glu160Ter | |
| NM_144612.6:c.4099G>T | NP_653213.6:p.Glu1367Ter | |
| XM_006722388.2:c.898G>T | XP_006722451.1:p.Glu300Ter | |
| XM_006722389.2:c.766G>T | XP_006722452.1:p.Glu256Ter | |
| XM_006722390.2:c.766G>T | XP_006722453.1:p.Glu256Ter | |
| XM_006722391.2:c.898G>T | XP_006722454.1:p.Glu300Ter | |
| XM_011525803.1:c.4099G>T | XP_011524105.1:p.Glu1367Ter | |
| XM_011525804.1:c.2260G>T | XP_011524106.1:p.Glu754Ter | |
| XM_011525805.1:c.763G>T | XP_011524107.1:p.Glu255Ter | |
| XM_011525806.1:c.478G>T | XP_011524108.1:p.Glu160Ter | |
| XM_011525807.1:c.478G>T | XP_011524109.1:p.Glu160Ter | |
| XM_011525809.1:c.478G>T | XP_011524111.1:p.Glu160Ter | |
| XM_006722388.3:c.898G>T | XP_006722451.1:p.Glu300Ter | |
| XM_006722389.3:c.766G>T | XP_006722452.1:p.Glu256Ter | |
| XM_006722390.3:c.766G>T | XP_006722453.1:p.Glu256Ter | |
| XM_006722391.3:c.898G>T | XP_006722454.1:p.Glu300Ter | |
| XM_011525804.2:c.2260G>T | XP_011524106.1:p.Glu754Ter | |
| XM_017025548.1:c.3481G>T | XP_016881037.1:p.Glu1161Ter | |
| XM_024451084.1:c.2581G>T | XP_024306852.1:p.Glu861Ter | |
| XM_024451085.1:c.763G>T | XP_024306853.1:p.Glu255Ter | |
| XM_024451086.1:c.478G>T | XP_024306854.1:p.Glu160Ter | |
| XM_024451087.1:c.478G>T | XP_024306855.1:p.Glu160Ter | |
| XM_024451088.1:c.478G>T | XP_024306856.1:p.Glu160Ter | |
| NM_001145472.3:c.766G>T | NP_001138944.1:p.Glu256Ter | |
| NM_001308013.2:c.478G>T | NP_001294942.1:p.Glu160Ter | |
| NM_001384474.1:c.4099G>T MANE Select | NP_001371403.1:p.Glu1367Ter | |
| NM_144612.7:c.4099G>T | NP_653213.6:p.Glu1367Ter |