Linked Data
dbSNP Id:
rs567910448
ExAC:
2:238245074 A / G
gnomAD v2:
2-238245074-A-G
gnomAD v3:
2-237336431-A-G
gnomAD v4:
2-237336431-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336431A>G , CM000664.2:g.237336431A>G | GRCh38 |
| NC_000002.11:g.238245074A>G , CM000664.1:g.238245074A>G | GRCh37 |
| NC_000002.10:g.237909813A>G | NCBI36 |
| NG_008676.1:g.82777T>C , LRG_473:g.82777T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1314T>C | ||
| ENST00000353578.9:c.8051T>C | ENSP00000315873.4:p.Val2684Ala | |
| ENST00000682957.1:c.796T>C | ||
| ENST00000684508.1:n.936T>C | ||
| ENST00000295550.9:c.8669T>C MANE Select | ENSP00000295550.4:p.Val2890Ala | |
| ENST00000295550.8:c.8669T>C | ENSP00000295550.4:p.Val2890Ala | |
| ENST00000347401.7:c.6845T>C | ENSP00000315609.4:p.Val2282Ala | |
| ENST00000353578.8:c.8051T>C | ENSP00000315873.4:p.Val2684Ala | |
| ENST00000409809.5:c.8051T>C | ENSP00000386844.1:p.Val2684Ala | |
| ENST00000472056.5:c.6848T>C | ENSP00000418285.1:p.Val2283Ala | |
| ENST00000491769.1:n.5111T>C | ||
| NM_004369.3:c.8669T>C , LRG_473t1:c.8669T>C | NP_004360.2:p.Val2890Ala | |
| NM_057166.4:c.6848T>C | NP_476507.3:p.Val2283Ala | |
| NM_057167.3:c.8051T>C | NP_476508.2:p.Val2684Ala | |
| XM_005246065.1:c.8069T>C | XP_005246122.1:p.Val2690Ala | |
| XM_005246066.1:c.7448T>C | XP_005246123.1:p.Val2483Ala | |
| XM_006712253.1:c.8168T>C | XP_006712316.1:p.Val2723Ala | |
| XM_011510574.1:c.8666T>C | XP_011508876.1:p.Val2889Ala | |
| XM_011510575.1:c.6263T>C | XP_011508877.1:p.Val2088Ala | |
| XM_017003304.1:c.6263T>C | XP_016858793.1:p.Val2088Ala | |
| XM_024452684.1:c.7448T>C | XP_024308452.1:p.Val2483Ala | |
| NM_004369.4:c.8669T>C MANE Select | NP_004360.2:p.Val2890Ala | |
| NM_057166.5:c.6848T>C | NP_476507.3:p.Val2283Ala | |
| NM_057167.4:c.8051T>C | NP_476508.2:p.Val2684Ala |