Linked Data
ClinVar Variation Id:
289363
ClinVar RCV Id:
RCV000321712
dbSNP Id:
rs886044163
gnomAD v4:
2-237344538-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344538C>A , CM000664.2:g.237344538C>A | GRCh38 |
| NC_000002.11:g.238253181C>A , CM000664.1:g.238253181C>A | GRCh37 |
| NC_000002.10:g.237917920C>A | NCBI36 |
| NG_008676.1:g.74670G>T , LRG_473:g.74670G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.125G>T | ||
| ENST00000353578.9:c.6862G>T | ENSP00000315873.4:p.Val2288Leu | |
| ENST00000295550.9:c.7480G>T MANE Select | ENSP00000295550.4:p.Val2494Leu | |
| ENST00000295550.8:c.7480G>T | ENSP00000295550.4:p.Val2494Leu | |
| ENST00000347401.7:c.5656G>T | ENSP00000315609.4:p.Val1886Leu | |
| ENST00000353578.8:c.6862G>T | ENSP00000315873.4:p.Val2288Leu | |
| ENST00000409809.5:c.6862G>T | ENSP00000386844.1:p.Val2288Leu | |
| ENST00000472056.5:c.5659G>T | ENSP00000418285.1:p.Val1887Leu | |
| ENST00000491769.1:n.1734G>T | ||
| NM_004369.3:c.7480G>T , LRG_473t1:c.7480G>T | NP_004360.2:p.Val2494Leu | |
| NM_057166.4:c.5659G>T | NP_476507.3:p.Val1887Leu | |
| NM_057167.3:c.6862G>T | NP_476508.2:p.Val2288Leu | |
| XM_005246065.1:c.6880G>T | XP_005246122.1:p.Val2294Leu | |
| XM_005246066.1:c.6259G>T | XP_005246123.1:p.Val2087Leu | |
| XM_006712253.1:c.6979G>T | XP_006712316.1:p.Val2327Leu | |
| XM_011510574.1:c.7477G>T | XP_011508876.1:p.Val2493Leu | |
| XM_011510575.1:c.5074G>T | XP_011508877.1:p.Val1692Leu | |
| XM_017003304.1:c.5074G>T | XP_016858793.1:p.Val1692Leu | |
| XM_024452684.1:c.6259G>T | XP_024308452.1:p.Val2087Leu | |
| NM_004369.4:c.7480G>T MANE Select | NP_004360.2:p.Val2494Leu | |
| NM_057166.5:c.5659G>T | NP_476507.3:p.Val1887Leu | |
| NM_057167.4:c.6862G>T | NP_476508.2:p.Val2288Leu |