Linked Data
dbSNP Id:
rs1236050758
gnomAD v2:
9-111641830-C-A
gnomAD v3:
9-108879550-C-A
gnomAD v4:
9-108879550-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108879550C>A , CM000671.2:g.108879550C>A | GRCh38 |
| NC_000009.11:g.111641830C>A , CM000671.1:g.111641830C>A | GRCh37 |
| NC_000009.10:g.110681651C>A | NCBI36 |
| NG_008788.1:g.59779G>T , LRG_251:g.59779G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3468G>T MANE Select | ENSP00000363779.5:p.Glu1156Asp | |
| ENST00000495759.6:c.*2078G>T | ENSP00000433514.2:n.*2078G>T | |
| ENST00000674535.1:c.3468G>T | ENSP00000502142.1:p.Glu1156Asp | |
| ENST00000674704.1:n.6553G>T | ||
| ENST00000674740.1:n.351G>T | ||
| ENST00000674836.1:n.4081G>T | ||
| ENST00000674890.1:c.*703G>T | ENSP00000501870.1:n.*703G>T | |
| ENST00000674938.1:c.3126G>T | ENSP00000502427.1:p.Glu1042Asp | |
| ENST00000674948.1:c.3126G>T | ENSP00000501602.1:p.Glu1042Asp | |
| ENST00000675052.1:c.3468G>T | ENSP00000502664.1:p.Glu1156Asp | |
| ENST00000675062.1:n.514G>T | ||
| ENST00000675078.1:c.3468G>T | ENSP00000501549.1:p.Glu1156Asp | |
| ENST00000675215.1:c.*2692G>T | ENSP00000502558.1:n.*2692G>T | |
| ENST00000675233.1:n.5295G>T | ||
| ENST00000675321.1:c.3460+502G>T | ENSP00000502751.1:n.3460+502G>T | |
| ENST00000675325.1:n.5425G>T | ||
| ENST00000675335.1:c.3499G>T | ENSP00000502182.1:n.3499G>T | |
| ENST00000675400.1:n.5320G>T | ||
| ENST00000675406.1:c.3468G>T | ENSP00000501893.1:p.Glu1156Asp | |
| ENST00000675458.1:c.3561G>T | ENSP00000501754.1:n.3561G>T | |
| ENST00000675507.1:n.5264G>T | ||
| ENST00000675535.1:c.*1095G>T | ENSP00000501667.1:n.*1095G>T | |
| ENST00000675566.1:n.5326G>T | ||
| ENST00000675580.1:n.621G>T | ||
| ENST00000675602.1:n.6516G>T | ||
| ENST00000675647.1:n.4632G>T | ||
| ENST00000675711.1:c.3585G>T | ENSP00000502485.1:n.3585G>T | |
| ENST00000675727.1:c.3468G>T | ENSP00000501722.1:p.Glu1156Asp | |
| ENST00000675748.1:n.5102G>T | ||
| ENST00000675765.1:c.*851G>T | ENSP00000502640.1:n.*851G>T | |
| ENST00000675825.1:c.3510G>T | ENSP00000502632.1:p.Glu1170Asp | |
| ENST00000675877.1:n.5312G>T | ||
| ENST00000675893.1:c.*4537G>T | ENSP00000502001.1:n.*4537G>T | |
| ENST00000675943.1:n.7083G>T | ||
| ENST00000675979.1:c.*2711G>T | ENSP00000502208.1:n.*2711G>T | |
| ENST00000676044.1:c.*1128G>T | ENSP00000502378.1:n.*1128G>T | |
| ENST00000676086.1:n.5253G>T | ||
| ENST00000676121.1:n.5296G>T | ||
| ENST00000676162.1:n.197G>T | ||
| ENST00000676237.1:c.3411G>T | ENSP00000501828.1:p.Glu1137Asp | |
| ENST00000676416.1:c.3168G>T | ENSP00000501660.1:p.Glu1056Asp | |
| ENST00000676424.1:n.5306G>T | ||
| ENST00000676429.1:n.7937G>T | ||
| ENST00000374647.9:c.3468G>T | ENSP00000363779.5:p.Glu1156Asp | |
| ENST00000467959.1:n.348G>T | ||
| ENST00000495759.5:c.608G>T | ||
| ENST00000537196.1:c.2421G>T | ENSP00000439367.1:p.Glu807Asp | |
| NM_003640.3:c.3468G>T , LRG_251t1:c.3468G>T | NP_003631.2:p.Glu1156Asp | |
| XM_005252285.2:c.3126G>T | XP_005252342.1:p.Glu1042Asp | |
| XM_011519136.1:c.3510G>T | XP_011517438.1:p.Glu1170Asp | |
| XM_011519137.1:c.3168G>T | XP_011517439.1:p.Glu1056Asp | |
| NM_001318360.1:c.3126G>T | NP_001305289.1:p.Glu1042Asp | |
| NM_001330749.1:c.2421G>T | NP_001317678.1:p.Glu807Asp | |
| NM_003640.4:c.3468G>T | NP_003631.2:p.Glu1156Asp | |
| XM_011519136.2:c.3510G>T | XP_011517438.1:p.Glu1170Asp | |
| XR_929859.3:n.3857G>T | ||
| NM_003640.5:c.3468G>T MANE Select | NP_003631.2:p.Glu1156Asp | |
| NM_001318360.2:c.3126G>T | NP_001305289.1:p.Glu1042Asp | |
| NM_001330749.2:c.2421G>T | NP_001317678.1:p.Glu807Asp |