Linked Data
ClinVar Variation Id:
2705855
ClinVar RCV Id:
RCV003518066
dbSNP Id:
rs898884846
gnomAD v3:
2-237336508-T-C
gnomAD v4:
2-237336508-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336508T>C , CM000664.2:g.237336508T>C | GRCh38 |
| NC_000002.11:g.238245151T>C , CM000664.1:g.238245151T>C | GRCh37 |
| NC_000002.10:g.237909890T>C | NCBI36 |
| NG_008676.1:g.82700A>G , LRG_473:g.82700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1237A>G | ||
| ENST00000353578.9:c.7974A>G | ENSP00000315873.4:p.Ser2658= | |
| ENST00000682957.1:c.719A>G | ||
| ENST00000684508.1:n.859A>G | ||
| ENST00000295550.9:c.8592A>G MANE Select | ENSP00000295550.4:p.Ser2864= | |
| ENST00000295550.8:c.8592A>G | ENSP00000295550.4:p.Ser2864= | |
| ENST00000347401.7:c.6768A>G | ENSP00000315609.4:p.Ser2256= | |
| ENST00000353578.8:c.7974A>G | ENSP00000315873.4:p.Ser2658= | |
| ENST00000409809.5:c.7974A>G | ENSP00000386844.1:p.Ser2658= | |
| ENST00000472056.5:c.6771A>G | ENSP00000418285.1:p.Ser2257= | |
| ENST00000491769.1:n.5034A>G | ||
| NM_004369.3:c.8592A>G , LRG_473t1:c.8592A>G | NP_004360.2:p.Ser2864= | |
| NM_057166.4:c.6771A>G | NP_476507.3:p.Ser2257= | |
| NM_057167.3:c.7974A>G | NP_476508.2:p.Ser2658= | |
| XM_005246065.1:c.7992A>G | XP_005246122.1:p.Ser2664= | |
| XM_005246066.1:c.7371A>G | XP_005246123.1:p.Ser2457= | |
| XM_006712253.1:c.8091A>G | XP_006712316.1:p.Ser2697= | |
| XM_011510574.1:c.8589A>G | XP_011508876.1:p.Ser2863= | |
| XM_011510575.1:c.6186A>G | XP_011508877.1:p.Ser2062= | |
| XM_017003304.1:c.6186A>G | XP_016858793.1:p.Ser2062= | |
| XM_024452684.1:c.7371A>G | XP_024308452.1:p.Ser2457= | |
| NM_004369.4:c.8592A>G MANE Select | NP_004360.2:p.Ser2864= | |
| NM_057166.5:c.6771A>G | NP_476507.3:p.Ser2257= | |
| NM_057167.4:c.7974A>G | NP_476508.2:p.Ser2658= |