Linked Data
ClinVar Variation Id:
282195
dbSNP Id:
rs769072338
ExAC:
2:238253054 G / A
gnomAD v2:
2-238253054-G-A
gnomAD v3:
2-237344411-G-A
gnomAD v4:
2-237344411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344411G>A , CM000664.2:g.237344411G>A | GRCh38 |
| NC_000002.11:g.238253054G>A , CM000664.1:g.238253054G>A | GRCh37 |
| NC_000002.10:g.237917793G>A | NCBI36 |
| NG_008676.1:g.74797C>T , LRG_473:g.74797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.252C>T | ||
| ENST00000353578.9:c.6989C>T | ENSP00000315873.4:p.Ala2330Val | |
| ENST00000295550.9:c.7607C>T MANE Select | ENSP00000295550.4:p.Ala2536Val | |
| ENST00000295550.8:c.7607C>T | ENSP00000295550.4:p.Ala2536Val | |
| ENST00000347401.7:c.5783C>T | ENSP00000315609.4:p.Ala1928Val | |
| ENST00000353578.8:c.6989C>T | ENSP00000315873.4:p.Ala2330Val | |
| ENST00000409809.5:c.6989C>T | ENSP00000386844.1:p.Ala2330Val | |
| ENST00000472056.5:c.5786C>T | ENSP00000418285.1:p.Ala1929Val | |
| ENST00000491769.1:n.1861C>T | ||
| NM_004369.3:c.7607C>T , LRG_473t1:c.7607C>T | NP_004360.2:p.Ala2536Val | |
| NM_057166.4:c.5786C>T | NP_476507.3:p.Ala1929Val | |
| NM_057167.3:c.6989C>T | NP_476508.2:p.Ala2330Val | |
| XM_005246065.1:c.7007C>T | XP_005246122.1:p.Ala2336Val | |
| XM_005246066.1:c.6386C>T | XP_005246123.1:p.Ala2129Val | |
| XM_006712253.1:c.7106C>T | XP_006712316.1:p.Ala2369Val | |
| XM_011510574.1:c.7604C>T | XP_011508876.1:p.Ala2535Val | |
| XM_011510575.1:c.5201C>T | XP_011508877.1:p.Ala1734Val | |
| XM_017003304.1:c.5201C>T | XP_016858793.1:p.Ala1734Val | |
| XM_024452684.1:c.6386C>T | XP_024308452.1:p.Ala2129Val | |
| NM_004369.4:c.7607C>T MANE Select | NP_004360.2:p.Ala2536Val | |
| NM_057166.5:c.5786C>T | NP_476507.3:p.Ala1929Val | |
| NM_057167.4:c.6989C>T | NP_476508.2:p.Ala2330Val |