Linked Data
ClinVar Variation Id:
1302716
ClinVar RCV Id:
RCV001762783
dbSNP Id:
rs774645319
ExAC:
2:238244868 C / A
gnomAD v2:
2-238244868-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336225C>A , CM000664.2:g.237336225C>A | GRCh38 |
| NC_000002.11:g.238244868C>A , CM000664.1:g.238244868C>A | GRCh37 |
| NC_000002.10:g.237909607C>A | NCBI36 |
| NG_008676.1:g.82983G>T , LRG_473:g.82983G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1520G>T | ||
| ENST00000353578.9:c.8257G>T | ENSP00000315873.4:p.Ala2753Ser | |
| ENST00000682957.1:c.1002G>T | ||
| ENST00000684508.1:n.1142G>T | ||
| ENST00000295550.9:c.8875G>T MANE Select | ENSP00000295550.4:p.Ala2959Ser | |
| ENST00000295550.8:c.8875G>T | ENSP00000295550.4:p.Ala2959Ser | |
| ENST00000347401.7:c.7051G>T | ENSP00000315609.4:p.Ala2351Ser | |
| ENST00000353578.8:c.8257G>T | ENSP00000315873.4:p.Ala2753Ser | |
| ENST00000409809.5:c.8257G>T | ENSP00000386844.1:p.Ala2753Ser | |
| ENST00000472056.5:c.7054G>T | ENSP00000418285.1:p.Ala2352Ser | |
| ENST00000491769.1:n.5317G>T | ||
| NM_004369.3:c.8875G>T , LRG_473t1:c.8875G>T | NP_004360.2:p.Ala2959Ser | |
| NM_057166.4:c.7054G>T | NP_476507.3:p.Ala2352Ser | |
| NM_057167.3:c.8257G>T | NP_476508.2:p.Ala2753Ser | |
| XM_005246065.1:c.8275G>T | XP_005246122.1:p.Ala2759Ser | |
| XM_005246066.1:c.7654G>T | XP_005246123.1:p.Ala2552Ser | |
| XM_006712253.1:c.8374G>T | XP_006712316.1:p.Ala2792Ser | |
| XM_011510574.1:c.8872G>T | XP_011508876.1:p.Ala2958Ser | |
| XM_011510575.1:c.6469G>T | XP_011508877.1:p.Ala2157Ser | |
| XM_017003304.1:c.6469G>T | XP_016858793.1:p.Ala2157Ser | |
| XM_024452684.1:c.7654G>T | XP_024308452.1:p.Ala2552Ser | |
| NM_004369.4:c.8875G>T MANE Select | NP_004360.2:p.Ala2959Ser | |
| NM_057166.5:c.7054G>T | NP_476507.3:p.Ala2352Ser | |
| NM_057167.4:c.8257G>T | NP_476508.2:p.Ala2753Ser |