Linked Data
ClinVar Variation Id:
287183
dbSNP Id:
rs150376179
ExAC:
2:238233453 G / A
gnomAD v2:
2-238233453-G-A
gnomAD v3:
2-237324810-G-A
gnomAD v4:
2-237324810-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237324810G>A , CM000664.2:g.237324810G>A | GRCh38 |
| NC_000002.11:g.238233453G>A , CM000664.1:g.238233453G>A | GRCh37 |
| NC_000002.10:g.237898192G>A | NCBI36 |
| NG_008676.1:g.94398C>T , LRG_473:g.94398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1879C>T | ||
| ENST00000353578.9:c.8880C>T | ENSP00000315873.4:p.Leu2960= | |
| ENST00000682957.1:c.1625C>T | ||
| ENST00000683348.1:c.364C>T | ENSP00000508058.1:n.364C>T | |
| ENST00000295550.9:c.9498C>T MANE Select | ENSP00000295550.4:p.Leu3166= | |
| ENST00000295550.8:c.9498C>T | ENSP00000295550.4:p.Leu3166= | |
| ENST00000347401.7:c.7674C>T | ENSP00000315609.4:p.Leu2558= | |
| ENST00000353578.8:c.8880C>T | ENSP00000315873.4:p.Leu2960= | |
| ENST00000409809.5:c.8880C>T | ENSP00000386844.1:p.Leu2960= | |
| ENST00000472056.5:c.7677C>T | ENSP00000418285.1:p.Leu2559= | |
| ENST00000473258.1:n.4626C>T | ||
| ENST00000491769.1:n.5940C>T | ||
| NM_004369.3:c.9498C>T , LRG_473t1:c.9498C>T | NP_004360.2:p.Leu3166= | |
| NM_057166.4:c.7677C>T | NP_476507.3:p.Leu2559= | |
| NM_057167.3:c.8880C>T | NP_476508.2:p.Leu2960= | |
| XM_005246065.1:c.8898C>T | XP_005246122.1:p.Leu2966= | |
| XM_005246066.1:c.8277C>T | XP_005246123.1:p.Leu2759= | |
| XM_006712253.1:c.8997C>T | XP_006712316.1:p.Leu2999= | |
| XM_011510574.1:c.9495C>T | XP_011508876.1:p.Leu3165= | |
| XM_011510575.1:c.7092C>T | XP_011508877.1:p.Leu2364= | |
| XM_017003304.1:c.7092C>T | XP_016858793.1:p.Leu2364= | |
| XM_024452684.1:c.8277C>T | XP_024308452.1:p.Leu2759= | |
| NM_004369.4:c.9498C>T MANE Select | NP_004360.2:p.Leu3166= | |
| NM_057166.5:c.7677C>T | NP_476507.3:p.Leu2559= | |
| NM_057167.4:c.8880C>T | NP_476508.2:p.Leu2960= |