Linked Data
ClinVar Variation Id:
2005650
ClinVar RCV Id:
RCV002825375
dbSNP Id:
rs1236015536
gnomAD v2:
2-238249210-T-C
gnomAD v3:
2-237340567-T-C
gnomAD v4:
2-237340567-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340567T>C , CM000664.2:g.237340567T>C | GRCh38 |
| NC_000002.11:g.238249210T>C , CM000664.1:g.238249210T>C | GRCh37 |
| NC_000002.10:g.237913949T>C | NCBI36 |
| NG_008676.1:g.78641A>G , LRG_473:g.78641A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.994A>G | ||
| ENST00000353578.9:c.7731A>G | ENSP00000315873.4:p.Val2577= | |
| ENST00000682957.1:c.352A>G | ||
| ENST00000684508.1:n.616A>G | ||
| ENST00000295550.9:c.8349A>G MANE Select | ENSP00000295550.4:p.Val2783= | |
| ENST00000295550.8:c.8349A>G | ENSP00000295550.4:p.Val2783= | |
| ENST00000347401.7:c.6525A>G | ENSP00000315609.4:p.Val2175= | |
| ENST00000353578.8:c.7731A>G | ENSP00000315873.4:p.Val2577= | |
| ENST00000409809.5:c.7731A>G | ENSP00000386844.1:p.Val2577= | |
| ENST00000468792.1:n.36A>G | ||
| ENST00000472056.5:c.6528A>G | ENSP00000418285.1:p.Val2176= | |
| ENST00000491769.1:n.4791A>G | ||
| NM_004369.3:c.8349A>G , LRG_473t1:c.8349A>G | NP_004360.2:p.Val2783= | |
| NM_057166.4:c.6528A>G | NP_476507.3:p.Val2176= | |
| NM_057167.3:c.7731A>G | NP_476508.2:p.Val2577= | |
| XM_005246065.1:c.7749A>G | XP_005246122.1:p.Val2583= | |
| XM_005246066.1:c.7128A>G | XP_005246123.1:p.Val2376= | |
| XM_006712253.1:c.7848A>G | XP_006712316.1:p.Val2616= | |
| XM_011510574.1:c.8346A>G | XP_011508876.1:p.Val2782= | |
| XM_011510575.1:c.5943A>G | XP_011508877.1:p.Val1981= | |
| XM_017003304.1:c.5943A>G | XP_016858793.1:p.Val1981= | |
| XM_024452684.1:c.7128A>G | XP_024308452.1:p.Val2376= | |
| NM_004369.4:c.8349A>G MANE Select | NP_004360.2:p.Val2783= | |
| NM_057166.5:c.6528A>G | NP_476507.3:p.Val2176= | |
| NM_057167.4:c.7731A>G | NP_476508.2:p.Val2577= |