Linked Data
dbSNP Id:
rs760881379
ExAC:
2:25467078 C / A
gnomAD v2:
2-25467078-C-A
gnomAD v4:
2-25244209-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25244209C>A , CM000664.2:g.25244209C>A | GRCh38 |
| NC_000002.11:g.25467078C>A , CM000664.1:g.25467078C>A | GRCh37 |
| NC_000002.10:g.25320582C>A | NCBI36 |
| NG_029465.2:g.103382G>T , LRG_459:g.103382G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.116G>T | ||
| ENST00000683393.1:c.943G>T | ENSP00000508654.1:n.943G>T | |
| ENST00000683760.1:c.1128G>T | ENSP00000507765.1:p.Glu376Asp | |
| ENST00000321117.10:c.1797G>T MANE Select | ENSP00000324375.5:p.Glu599Asp | |
| ENST00000264709.7:c.1797G>T | ENSP00000264709.3:p.Glu599Asp | |
| ENST00000321117.9:c.1797G>T | ENSP00000324375.5:p.Glu599Asp | |
| ENST00000380746.8:c.1230G>T | ENSP00000370122.4:p.Glu410Asp | |
| ENST00000380756.7:c.1797G>T | ENSP00000370132.3:p.Glu599Asp | |
| ENST00000402667.1:c.1128G>T | ENSP00000384237.1:p.Glu376Asp | |
| ENST00000474887.5:n.116G>T | ||
| NM_022552.4:c.1797G>T , LRG_459t1:c.1797G>T | NP_072046.2:p.Glu599Asp | |
| NM_153759.3:c.1230G>T , LRG_459t2:c.1230G>T | NP_715640.2:p.Glu410Asp | |
| NM_175629.2:c.1797G>T , LRG_459t4:c.1797G>T | NP_783328.1:p.Glu599Asp | |
| XM_005264175.3:c.1797G>T | XP_005264232.1:p.Glu599Asp | |
| XM_005264177.3:c.1128G>T | XP_005264234.1:p.Glu376Asp | |
| XM_006711957.2:c.1797G>T | XP_006712020.1:p.Glu599Asp | |
| XM_006711958.2:c.1353G>T | XP_006712021.1:p.Glu451Asp | |
| XM_011532662.1:c.1650G>T | XP_011530964.1:p.Glu550Asp | |
| XM_011532663.1:c.1632G>T | XP_011530965.1:p.Glu544Asp | |
| XM_011532664.1:c.1797G>T | XP_011530966.1:p.Glu599Asp | |
| XM_011532665.1:c.1341G>T | XP_011530967.1:p.Glu447Asp | |
| XM_011532666.1:c.1269G>T | XP_011530968.1:p.Glu423Asp | |
| XM_011532667.1:c.1128G>T | XP_011530969.1:p.Glu376Asp | |
| XM_011532668.1:c.1797G>T | XP_011530970.1:p.Glu599Asp | |
| NM_001320893.1:c.1341G>T | NP_001307822.1:p.Glu447Asp | |
| NR_135490.1:n.2135G>T | ||
| XM_005264175.5:c.1797G>T | XP_005264232.1:p.Glu599Asp | |
| XM_005264177.4:c.1128G>T | XP_005264234.1:p.Glu376Asp | |
| XM_011532662.2:c.1650G>T | XP_011530964.1:p.Glu550Asp | |
| XM_011532663.2:c.1632G>T | XP_011530965.1:p.Glu544Asp | |
| XM_011532664.2:c.1797G>T | XP_011530966.1:p.Glu599Asp | |
| XM_011532666.2:c.1269G>T | XP_011530968.1:p.Glu423Asp | |
| XM_011532667.3:c.1128G>T | XP_011530969.1:p.Glu376Asp | |
| XM_017003526.1:c.1797G>T | XP_016859015.1:p.Glu599Asp | |
| XM_017003527.1:c.1128G>T | XP_016859016.1:p.Glu376Asp | |
| XR_001738657.1:n.2074G>T | ||
| NM_001375819.1:c.1128G>T | NP_001362748.1:p.Glu376Asp | |
| NR_135490.2:n.2028G>T | ||
| NM_022552.5:c.1797G>T MANE Select | NP_072046.2:p.Glu599Asp |