Linked Data
ClinVar Variation Id:
289044
dbSNP Id:
rs777454204
ExAC:
2:238262034 C / T
gnomAD v2:
2-238262034-C-T
gnomAD v3:
2-237353391-C-T
gnomAD v4:
2-237353391-C-T
PubMed:
PMID:28263302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237353391C>T , CM000664.2:g.237353391C>T | GRCh38 |
| NC_000002.11:g.238262034C>T , CM000664.1:g.238262034C>T | GRCh37 |
| NC_000002.10:g.237926773C>T | NCBI36 |
| NG_008676.1:g.65817G>A , LRG_473:g.65817G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6022G>A | ENSP00000315873.4:p.Gly2008Ser | |
| ENST00000295550.9:c.6640G>A MANE Select | ENSP00000295550.4:p.Gly2214Ser | |
| ENST00000295550.8:c.6640G>A | ENSP00000295550.4:p.Gly2214Ser | |
| ENST00000347401.7:c.4819G>A | ENSP00000315609.4:p.Gly1607Ser | |
| ENST00000353578.8:c.6022G>A | ENSP00000315873.4:p.Gly2008Ser | |
| ENST00000409809.5:c.6022G>A | ENSP00000386844.1:p.Gly2008Ser | |
| ENST00000472056.5:c.4819G>A | ENSP00000418285.1:p.Gly1607Ser | |
| ENST00000491769.1:n.894G>A | ||
| NM_004369.3:c.6640G>A , LRG_473t1:c.6640G>A | NP_004360.2:p.Gly2214Ser | |
| NM_057166.4:c.4819G>A | NP_476507.3:p.Gly1607Ser | |
| NM_057167.3:c.6022G>A | NP_476508.2:p.Gly2008Ser | |
| XM_005246065.1:c.6040G>A | XP_005246122.1:p.Gly2014Ser | |
| XM_005246066.1:c.5419G>A | XP_005246123.1:p.Gly1807Ser | |
| XM_006712253.1:c.6139G>A | XP_006712316.1:p.Gly2047Ser | |
| XM_011510574.1:c.6637G>A | XP_011508876.1:p.Gly2213Ser | |
| XM_011510575.1:c.4234G>A | XP_011508877.1:p.Gly1412Ser | |
| XM_017003304.1:c.4234G>A | XP_016858793.1:p.Gly1412Ser | |
| XM_024452684.1:c.5419G>A | XP_024308452.1:p.Gly1807Ser | |
| NM_004369.4:c.6640G>A MANE Select | NP_004360.2:p.Gly2214Ser | |
| NM_057166.5:c.4819G>A | NP_476507.3:p.Gly1607Ser | |
| NM_057167.4:c.6022G>A | NP_476508.2:p.Gly2008Ser |