Linked Data
ClinVar Variation Id:
1002685
ClinVar RCV Id:
RCV001299145
dbSNP Id:
rs763395740
gnomAD v2:
2-238249200-C-A
gnomAD v3:
2-237340557-C-A
gnomAD v4:
2-237340557-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340557C>A , CM000664.2:g.237340557C>A | GRCh38 |
| NC_000002.11:g.238249200C>A , CM000664.1:g.238249200C>A | GRCh37 |
| NC_000002.10:g.237913939C>A | NCBI36 |
| NG_008676.1:g.78651G>T , LRG_473:g.78651G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1004G>T | ||
| ENST00000353578.9:c.7741G>T | ENSP00000315873.4:p.Ala2581Ser | |
| ENST00000682957.1:c.362G>T | ||
| ENST00000684508.1:n.626G>T | ||
| ENST00000295550.9:c.8359G>T MANE Select | ENSP00000295550.4:p.Ala2787Ser | |
| ENST00000295550.8:c.8359G>T | ENSP00000295550.4:p.Ala2787Ser | |
| ENST00000347401.7:c.6535G>T | ENSP00000315609.4:p.Ala2179Ser | |
| ENST00000353578.8:c.7741G>T | ENSP00000315873.4:p.Ala2581Ser | |
| ENST00000409809.5:c.7741G>T | ENSP00000386844.1:p.Ala2581Ser | |
| ENST00000468792.1:n.46G>T | ||
| ENST00000472056.5:c.6538G>T | ENSP00000418285.1:p.Ala2180Ser | |
| ENST00000491769.1:n.4801G>T | ||
| NM_004369.3:c.8359G>T , LRG_473t1:c.8359G>T | NP_004360.2:p.Ala2787Ser | |
| NM_057166.4:c.6538G>T | NP_476507.3:p.Ala2180Ser | |
| NM_057167.3:c.7741G>T | NP_476508.2:p.Ala2581Ser | |
| XM_005246065.1:c.7759G>T | XP_005246122.1:p.Ala2587Ser | |
| XM_005246066.1:c.7138G>T | XP_005246123.1:p.Ala2380Ser | |
| XM_006712253.1:c.7858G>T | XP_006712316.1:p.Ala2620Ser | |
| XM_011510574.1:c.8356G>T | XP_011508876.1:p.Ala2786Ser | |
| XM_011510575.1:c.5953G>T | XP_011508877.1:p.Ala1985Ser | |
| XM_017003304.1:c.5953G>T | XP_016858793.1:p.Ala1985Ser | |
| XM_024452684.1:c.7138G>T | XP_024308452.1:p.Ala2380Ser | |
| NM_004369.4:c.8359G>T MANE Select | NP_004360.2:p.Ala2787Ser | |
| NM_057166.5:c.6538G>T | NP_476507.3:p.Ala2180Ser | |
| NM_057167.4:c.7741G>T | NP_476508.2:p.Ala2581Ser |