Linked Data
ClinVar Variation Id:
288660
dbSNP Id:
rs748491825
ExAC:
2:238249419 C / A
gnomAD v2:
2-238249419-C-A
gnomAD v3:
2-237340776-C-A
gnomAD v4:
2-237340776-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340776C>A , CM000664.2:g.237340776C>A | GRCh38 |
| NC_000002.11:g.238249419C>A , CM000664.1:g.238249419C>A | GRCh37 |
| NC_000002.10:g.237914158C>A | NCBI36 |
| NG_008676.1:g.78432G>T , LRG_473:g.78432G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.785G>T | ||
| ENST00000353578.9:c.7522G>T | ENSP00000315873.4:p.Ala2508Ser | |
| ENST00000682957.1:c.143G>T | ||
| ENST00000684508.1:n.407G>T | ||
| ENST00000295550.9:c.8140G>T MANE Select | ENSP00000295550.4:p.Ala2714Ser | |
| ENST00000295550.8:c.8140G>T | ENSP00000295550.4:p.Ala2714Ser | |
| ENST00000347401.7:c.6316G>T | ENSP00000315609.4:p.Ala2106Ser | |
| ENST00000353578.8:c.7522G>T | ENSP00000315873.4:p.Ala2508Ser | |
| ENST00000409809.5:c.7522G>T | ENSP00000386844.1:p.Ala2508Ser | |
| ENST00000472056.5:c.6319G>T | ENSP00000418285.1:p.Ala2107Ser | |
| ENST00000491769.1:n.4582G>T | ||
| NM_004369.3:c.8140G>T , LRG_473t1:c.8140G>T | NP_004360.2:p.Ala2714Ser | |
| NM_057166.4:c.6319G>T | NP_476507.3:p.Ala2107Ser | |
| NM_057167.3:c.7522G>T | NP_476508.2:p.Ala2508Ser | |
| XM_005246065.1:c.7540G>T | XP_005246122.1:p.Ala2514Ser | |
| XM_005246066.1:c.6919G>T | XP_005246123.1:p.Ala2307Ser | |
| XM_006712253.1:c.7639G>T | XP_006712316.1:p.Ala2547Ser | |
| XM_011510574.1:c.8137G>T | XP_011508876.1:p.Ala2713Ser | |
| XM_011510575.1:c.5734G>T | XP_011508877.1:p.Ala1912Ser | |
| XM_017003304.1:c.5734G>T | XP_016858793.1:p.Ala1912Ser | |
| XM_024452684.1:c.6919G>T | XP_024308452.1:p.Ala2307Ser | |
| NM_004369.4:c.8140G>T MANE Select | NP_004360.2:p.Ala2714Ser | |
| NM_057166.5:c.6319G>T | NP_476507.3:p.Ala2107Ser | |
| NM_057167.4:c.7522G>T | NP_476508.2:p.Ala2508Ser |