Linked Data
ClinVar Variation Id:
1557107
ClinVar RCV Id:
RCV002194719
dbSNP Id:
rs766575722
ExAC:
2:179605309 T / C
gnomAD v2:
2-179605309-T-C
gnomAD v4:
2-178740582-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178740582T>C , CM000664.2:g.178740582T>C | GRCh38 |
| NC_000002.11:g.179605309T>C , CM000664.1:g.179605309T>C | GRCh37 |
| NC_000002.10:g.179313554T>C | NCBI36 |
| NG_011618.3:g.95221A>G , LRG_391:g.95221A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.10361-2222A>G | ENSP00000343764.6:n.10361-2222A>G | |
| ENST00000342175.11:c.12138A>G | ENSP00000340554.6:p.Ser4046= | |
| ENST00000359218.10:c.11937A>G | ENSP00000352154.5:p.Ser3979= | |
| ENST00000342175.10:c.12138A>G | ENSP00000340554.6:p.Ser4046= | |
| ENST00000342992.10:c.10361-2222A>G | ENSP00000343764.6:n.10361-2222A>G | |
| ENST00000359218.9:c.11937A>G | ENSP00000352154.5:p.Ser3979= | |
| ENST00000460472.6:c.11562A>G | ENSP00000434586.1:p.Ser3854= | |
| ENST00000589042.5:c.12651A>G MANE Select | ENSP00000467141.1:p.Ser4217= | |
| ENST00000591111.5:c.11700A>G | ENSP00000465570.1:p.Ser3900= | |
| ENST00000615779.4:c.11700A>G | ENSP00000483597.1:p.Ser3900= | |
| NM_001256850.1:c.11700A>G | NP_001243779.1:p.Ser3900= | |
| NM_001267550.2:c.12651A>G MANE Select | NP_001254479.2:p.Ser4217= | |
| NM_003319.4:c.11562A>G | NP_003310.4:p.Ser3854= | |
| NM_133378.4:c.10361-2222A>G | NP_596869.4:n.10361-2222A>G | |
| NM_133432.3:c.11937A>G | NP_597676.3:p.Ser3979= | |
| NM_133437.4:c.12138A>G | NP_597681.4:p.Ser4046= | |
| XM_011511729.1:c.11748A>G | XP_011510031.1:p.Ser3916= | |
| XM_011511730.1:c.11748A>G | XP_011510032.1:p.Ser3916= | |
| XM_011511731.1:c.11607A>G | XP_011510033.1:p.Ser3869= | |
| XM_017004819.1:c.11703A>G | XP_016860308.1:p.Ser3901= | |
| XM_017004820.1:c.10364-2222A>G | XP_016860309.1:n.10364-2222A>G | |
| XM_017004821.1:c.10361-2222A>G | XP_016860310.1:n.10361-2222A>G | |
| XM_017004822.1:c.11703A>G | XP_016860311.1:p.Ser3901= | |
| XM_017004823.1:c.11703A>G | XP_016860312.1:p.Ser3901= | |
| XM_024453094.1:c.11703A>G | XP_024308862.1:p.Ser3901= | |
| XM_024453095.1:c.11703A>G | XP_024308863.1:p.Ser3901= | |
| XM_024453096.1:c.11703A>G | XP_024308864.1:p.Ser3901= | |
| XM_024453097.1:c.11703A>G | XP_024308865.1:p.Ser3901= | |
| XM_024453098.1:c.11703A>G | XP_024308866.1:p.Ser3901= | |
| XM_024453099.1:c.11703A>G | XP_024308867.1:p.Ser3901= |