Linked Data
ClinVar Variation Id:
40733
dbSNP Id:
rs141594736
ExAC:
2:39213367 G / C
gnomAD v2:
2-39213367-G-C
gnomAD v3:
2-38986226-G-C
gnomAD v4:
2-38986226-G-C
ERepo:
CA297240/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38986226G>C , CM000664.2:g.38986226G>C | GRCh38 |
| NC_000002.11:g.39213367G>C , CM000664.1:g.39213367G>C | GRCh37 |
| NC_000002.10:g.39066871G>C | NCBI36 |
| NG_007530.1:g.139238C>G , LRG_754:g.139238C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2367C>G | ENSP00000509424.1:p.Asp789Glu | |
| ENST00000686849.1:n.391C>G | ||
| ENST00000690876.1:c.*906C>G | ENSP00000508955.1:n.*906C>G | |
| ENST00000692089.1:c.3399+1247C>G | ENSP00000508626.1:n.3399+1247C>G | |
| ENST00000692227.1:c.1162-863C>G | ENSP00000509138.1:n.1162-863C>G | |
| ENST00000402219.8:c.3600C>G MANE Select | ENSP00000384675.2:p.Asp1200Glu | |
| ENST00000395038.6:c.3555C>G | ENSP00000378479.2:p.Asp1185Glu | |
| ENST00000402219.6:c.3600C>G | ENSP00000384675.2:p.Asp1200Glu | |
| ENST00000426016.5:c.3600C>G | ENSP00000387784.1:p.Asp1200Glu | |
| ENST00000469581.1:n.343C>G | ||
| NM_005633.3:c.3600C>G , LRG_754t1:c.3600C>G | NP_005624.2:p.Asp1200Glu | |
| XM_005264515.3:c.3555C>G | XP_005264572.1:p.Asp1185Glu | |
| XM_011533060.1:c.3693C>G | XP_011531362.1:p.Asp1231Glu | |
| XM_011533061.1:c.3648C>G | XP_011531363.1:p.Asp1216Glu | |
| XM_011533062.1:c.3579C>G | XP_011531364.1:p.Asp1193Glu | |
| XM_011533063.1:c.3576C>G | XP_011531365.1:p.Asp1192Glu | |
| XM_011533064.1:c.3429C>G | XP_011531366.1:p.Asp1143Glu | |
| XM_011533065.1:c.3604-863C>G | XP_011531367.1:n.3604-863C>G | |
| XM_011533066.1:c.2535C>G | XP_011531368.1:p.Asp845Glu | |
| XM_005264515.4:c.3555C>G | XP_005264572.1:p.Asp1185Glu | |
| XM_011533062.2:c.3579C>G | XP_011531364.1:p.Asp1193Glu | |
| XM_011533064.2:c.3429C>G | XP_011531366.1:p.Asp1143Glu | |
| NM_001382394.1:c.3579C>G | NP_001369323.1:p.Asp1193Glu | |
| NM_001382395.1:c.3555C>G | NP_001369324.1:p.Asp1185Glu | |
| NM_005633.4:c.3600C>G MANE Select | NP_005624.2:p.Asp1200Glu |