Linked Data
ClinVar Variation Id:
290190
dbSNP Id:
rs114131542
ExAC:
2:238275360 G / A
gnomAD v2:
2-238275360-G-A
gnomAD v3:
2-237366717-G-A
gnomAD v4:
2-237366717-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237366717G>A , CM000664.2:g.237366717G>A | GRCh38 |
| NC_000002.11:g.238275360G>A , CM000664.1:g.238275360G>A | GRCh37 |
| NC_000002.10:g.237940099G>A | NCBI36 |
| NG_008676.1:g.52491C>T , LRG_473:g.52491C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4852C>T | ENSP00000315873.4:p.Leu1618Phe | |
| ENST00000295550.9:c.5470C>T MANE Select | ENSP00000295550.4:p.Leu1824Phe | |
| ENST00000295550.8:c.5470C>T | ENSP00000295550.4:p.Leu1824Phe | |
| ENST00000347401.7:c.3649C>T | ENSP00000315609.4:p.Leu1217Phe | |
| ENST00000353578.8:c.4852C>T | ENSP00000315873.4:p.Leu1618Phe | |
| ENST00000409809.5:c.4852C>T | ENSP00000386844.1:p.Leu1618Phe | |
| ENST00000472056.5:c.3649C>T | ENSP00000418285.1:p.Leu1217Phe | |
| NM_004369.3:c.5470C>T , LRG_473t1:c.5470C>T | NP_004360.2:p.Leu1824Phe | |
| NM_057166.4:c.3649C>T | NP_476507.3:p.Leu1217Phe | |
| NM_057167.3:c.4852C>T | NP_476508.2:p.Leu1618Phe | |
| XM_005246065.1:c.4870C>T | XP_005246122.1:p.Leu1624Phe | |
| XM_005246066.1:c.4249C>T | XP_005246123.1:p.Leu1417Phe | |
| XM_006712253.1:c.4969C>T | XP_006712316.1:p.Leu1657Phe | |
| XM_011510574.1:c.5467C>T | XP_011508876.1:p.Leu1823Phe | |
| XM_011510575.1:c.3064C>T | XP_011508877.1:p.Leu1022Phe | |
| XM_017003304.1:c.3064C>T | XP_016858793.1:p.Leu1022Phe | |
| XM_024452684.1:c.4249C>T | XP_024308452.1:p.Leu1417Phe | |
| NM_004369.4:c.5470C>T MANE Select | NP_004360.2:p.Leu1824Phe | |
| NM_057166.5:c.3649C>T | NP_476507.3:p.Leu1217Phe | |
| NM_057167.4:c.4852C>T | NP_476508.2:p.Leu1618Phe |