Linked Data
dbSNP Id:
rs778461192
ExAC:
2:238245095 A / G
gnomAD v2:
2-238245095-A-G
gnomAD v4:
2-237336452-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336452A>G , CM000664.2:g.237336452A>G | GRCh38 |
| NC_000002.11:g.238245095A>G , CM000664.1:g.238245095A>G | GRCh37 |
| NC_000002.10:g.237909834A>G | NCBI36 |
| NG_008676.1:g.82756T>C , LRG_473:g.82756T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1293T>C | ||
| ENST00000353578.9:c.8030T>C | ENSP00000315873.4:p.Val2677Ala | |
| ENST00000682957.1:c.775T>C | ||
| ENST00000684508.1:n.915T>C | ||
| ENST00000295550.9:c.8648T>C MANE Select | ENSP00000295550.4:p.Val2883Ala | |
| ENST00000295550.8:c.8648T>C | ENSP00000295550.4:p.Val2883Ala | |
| ENST00000347401.7:c.6824T>C | ENSP00000315609.4:p.Val2275Ala | |
| ENST00000353578.8:c.8030T>C | ENSP00000315873.4:p.Val2677Ala | |
| ENST00000409809.5:c.8030T>C | ENSP00000386844.1:p.Val2677Ala | |
| ENST00000472056.5:c.6827T>C | ENSP00000418285.1:p.Val2276Ala | |
| ENST00000491769.1:n.5090T>C | ||
| NM_004369.3:c.8648T>C , LRG_473t1:c.8648T>C | NP_004360.2:p.Val2883Ala | |
| NM_057166.4:c.6827T>C | NP_476507.3:p.Val2276Ala | |
| NM_057167.3:c.8030T>C | NP_476508.2:p.Val2677Ala | |
| XM_005246065.1:c.8048T>C | XP_005246122.1:p.Val2683Ala | |
| XM_005246066.1:c.7427T>C | XP_005246123.1:p.Val2476Ala | |
| XM_006712253.1:c.8147T>C | XP_006712316.1:p.Val2716Ala | |
| XM_011510574.1:c.8645T>C | XP_011508876.1:p.Val2882Ala | |
| XM_011510575.1:c.6242T>C | XP_011508877.1:p.Val2081Ala | |
| XM_017003304.1:c.6242T>C | XP_016858793.1:p.Val2081Ala | |
| XM_024452684.1:c.7427T>C | XP_024308452.1:p.Val2476Ala | |
| NM_004369.4:c.8648T>C MANE Select | NP_004360.2:p.Val2883Ala | |
| NM_057166.5:c.6827T>C | NP_476507.3:p.Val2276Ala | |
| NM_057167.4:c.8030T>C | NP_476508.2:p.Val2677Ala |