Linked Data
ClinVar Variation Id:
1363424
dbSNP Id:
rs756294311
ExAC:
2:238249242 C / T
gnomAD v2:
2-238249242-C-T
gnomAD v4:
2-237340599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340599C>T , CM000664.2:g.237340599C>T | GRCh38 |
| NC_000002.11:g.238249242C>T , CM000664.1:g.238249242C>T | GRCh37 |
| NC_000002.10:g.237913981C>T | NCBI36 |
| NG_008676.1:g.78609G>A , LRG_473:g.78609G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.962G>A | ||
| ENST00000353578.9:c.7699G>A | ENSP00000315873.4:p.Gly2567Ser | |
| ENST00000682957.1:c.320G>A | ||
| ENST00000684508.1:n.584G>A | ||
| ENST00000295550.9:c.8317G>A MANE Select | ENSP00000295550.4:p.Gly2773Ser | |
| ENST00000295550.8:c.8317G>A | ENSP00000295550.4:p.Gly2773Ser | |
| ENST00000347401.7:c.6493G>A | ENSP00000315609.4:p.Gly2165Ser | |
| ENST00000353578.8:c.7699G>A | ENSP00000315873.4:p.Gly2567Ser | |
| ENST00000409809.5:c.7699G>A | ENSP00000386844.1:p.Gly2567Ser | |
| ENST00000468792.1:n.4G>A | ||
| ENST00000472056.5:c.6496G>A | ENSP00000418285.1:p.Gly2166Ser | |
| ENST00000491769.1:n.4759G>A | ||
| NM_004369.3:c.8317G>A , LRG_473t1:c.8317G>A | NP_004360.2:p.Gly2773Ser | |
| NM_057166.4:c.6496G>A | NP_476507.3:p.Gly2166Ser | |
| NM_057167.3:c.7699G>A | NP_476508.2:p.Gly2567Ser | |
| XM_005246065.1:c.7717G>A | XP_005246122.1:p.Gly2573Ser | |
| XM_005246066.1:c.7096G>A | XP_005246123.1:p.Gly2366Ser | |
| XM_006712253.1:c.7816G>A | XP_006712316.1:p.Gly2606Ser | |
| XM_011510574.1:c.8314G>A | XP_011508876.1:p.Gly2772Ser | |
| XM_011510575.1:c.5911G>A | XP_011508877.1:p.Gly1971Ser | |
| XM_017003304.1:c.5911G>A | XP_016858793.1:p.Gly1971Ser | |
| XM_024452684.1:c.7096G>A | XP_024308452.1:p.Gly2366Ser | |
| NM_004369.4:c.8317G>A MANE Select | NP_004360.2:p.Gly2773Ser | |
| NM_057166.5:c.6496G>A | NP_476507.3:p.Gly2166Ser | |
| NM_057167.4:c.7699G>A | NP_476508.2:p.Gly2567Ser |