Linked Data
ClinVar Variation Id:
500364
dbSNP Id:
rs569907876
ExAC:
2:238249182 C / T
gnomAD v2:
2-238249182-C-T
gnomAD v3:
2-237340539-C-T
gnomAD v4:
2-237340539-C-T
COSMIC:
COSM1201972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340539C>T , CM000664.2:g.237340539C>T | GRCh38 |
| NC_000002.11:g.238249182C>T , CM000664.1:g.238249182C>T | GRCh37 |
| NC_000002.10:g.237913921C>T | NCBI36 |
| NG_008676.1:g.78669G>A , LRG_473:g.78669G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1022G>A | ||
| ENST00000353578.9:c.7759G>A | ENSP00000315873.4:p.Val2587Ile | |
| ENST00000682957.1:c.380G>A | ||
| ENST00000684508.1:n.644G>A | ||
| ENST00000295550.9:c.8377G>A MANE Select | ENSP00000295550.4:p.Val2793Ile | |
| ENST00000295550.8:c.8377G>A | ENSP00000295550.4:p.Val2793Ile | |
| ENST00000347401.7:c.6553G>A | ENSP00000315609.4:p.Val2185Ile | |
| ENST00000353578.8:c.7759G>A | ENSP00000315873.4:p.Val2587Ile | |
| ENST00000409809.5:c.7759G>A | ENSP00000386844.1:p.Val2587Ile | |
| ENST00000468792.1:n.64G>A | ||
| ENST00000472056.5:c.6556G>A | ENSP00000418285.1:p.Val2186Ile | |
| ENST00000491769.1:n.4819G>A | ||
| NM_004369.3:c.8377G>A , LRG_473t1:c.8377G>A | NP_004360.2:p.Val2793Ile | |
| NM_057166.4:c.6556G>A | NP_476507.3:p.Val2186Ile | |
| NM_057167.3:c.7759G>A | NP_476508.2:p.Val2587Ile | |
| XM_005246065.1:c.7777G>A | XP_005246122.1:p.Val2593Ile | |
| XM_005246066.1:c.7156G>A | XP_005246123.1:p.Val2386Ile | |
| XM_006712253.1:c.7876G>A | XP_006712316.1:p.Val2626Ile | |
| XM_011510574.1:c.8374G>A | XP_011508876.1:p.Val2792Ile | |
| XM_011510575.1:c.5971G>A | XP_011508877.1:p.Val1991Ile | |
| XM_017003304.1:c.5971G>A | XP_016858793.1:p.Val1991Ile | |
| XM_024452684.1:c.7156G>A | XP_024308452.1:p.Val2386Ile | |
| NM_004369.4:c.8377G>A MANE Select | NP_004360.2:p.Val2793Ile | |
| NM_057166.5:c.6556G>A | NP_476507.3:p.Val2186Ile | |
| NM_057167.4:c.7759G>A | NP_476508.2:p.Val2587Ile |