Linked Data
ClinVar Variation Id:
323186
dbSNP Id:
rs8078775
ExAC:
17:39975466 A / G
gnomAD v2:
17-39975466-A-G
gnomAD v3:
17-41819214-A-G
gnomAD v4:
17-41819214-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41819214A>G , CM000679.2:g.41819214A>G | GRCh38 |
| NC_000017.10:g.39975466A>G , CM000679.1:g.39975466A>G | GRCh37 |
| NC_000017.9:g.37228992A>G | NCBI36 |
| NG_015860.1:g.11505A>G , LRG_12:g.11505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.727+687A>G | ENSP00000516497.1:n.727+687A>G | |
| ENST00000321562.9:c.732A>G MANE Select | ENSP00000317232.4:p.Thr244= | |
| ENST00000321562.8:c.732A>G | ENSP00000317232.4:p.Thr244= | |
| ENST00000487489.1:n.345A>G | ||
| ENST00000489591.5:c.*142A>G | ENSP00000466352.1:n.*142A>G | |
| NM_021939.3:c.732A>G , LRG_12t1:c.732A>G | NP_068758.3:p.Thr244= | |
| XM_011525099.1:c.732A>G | XP_011523401.1:p.Thr244= | |
| XM_011525100.1:c.459A>G | XP_011523402.1:p.Thr153= | |
| XM_011525099.3:c.732A>G | XP_011523401.1:p.Thr244= | |
| XM_011525100.2:c.459A>G | XP_011523402.1:p.Thr153= | |
| NM_021939.4:c.732A>G MANE Select | NP_068758.3:p.Thr244= |