Linked Data
ClinVar Variation Id:
1431614
ClinVar RCV Id:
RCV001967578
dbSNP Id:
rs764347930
ExAC:
4:110662254 C / A
gnomAD v2:
4-110662254-C-A
gnomAD v4:
4-109741098-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109741098C>A , CM000666.2:g.109741098C>A | GRCh38 |
| NC_000004.11:g.110662254C>A , CM000666.1:g.110662254C>A | GRCh37 |
| NC_000004.10:g.110881703C>A | NCBI36 |
| NG_007569.1:g.65888G>T , LRG_48:g.65888G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1713+1393G>T | ||
| ENST00000695845.1:n.1712+1393G>T | ||
| ENST00000695846.1:n.1571G>T | ||
| ENST00000394634.7:c.1547G>T MANE Select | ENSP00000378130.2:p.Gly516Val | |
| ENST00000394635.8:c.1571G>T | ENSP00000378131.3:p.Gly524Val | |
| ENST00000645635.1:c.1534+1393G>T | ENSP00000493607.1:n.1534+1393G>T | |
| ENST00000394634.6:c.1547G>T | ENSP00000378130.2:p.Gly516Val | |
| ENST00000394635.7:c.1571G>T | ENSP00000378131.3:p.Gly524Val | |
| ENST00000504853.3:n.1964G>T | ||
| ENST00000512148.5:c.1526G>T | ENSP00000427438.1:p.Gly509Val | |
| ENST00000618244.4:c.1045-293G>T | ENSP00000483416.1:n.1045-293G>T | |
| NM_000204.3:c.1547G>T , LRG_48t1:c.1547G>T | NP_000195.2:p.Gly516Val | |
| XM_005262975.1:c.1571G>T | XP_005263032.1:p.Gly524Val | |
| XM_005262976.1:c.1526G>T | XP_005263033.1:p.Gly509Val | |
| XM_006714209.1:c.1568G>T | XP_006714272.1:p.Gly523Val | |
| XM_011531920.1:c.1558+1393G>T | XP_011530222.1:n.1558+1393G>T | |
| NM_000204.4:c.1547G>T | NP_000195.2:p.Gly516Val | |
| NM_001318057.1:c.1571G>T | NP_001304986.1:p.Gly524Val | |
| NM_001331035.1:c.1526G>T | NP_001317964.1:p.Gly509Val | |
| XM_011531920.2:c.1558+1393G>T | XP_011530222.1:n.1558+1393G>T | |
| XM_017008164.2:c.1534+1393G>T | XP_016863653.1:n.1534+1393G>T | |
| XM_017008165.2:c.1513+1393G>T | XP_016863654.1:n.1513+1393G>T | |
| XM_017008166.2:c.1534+1393G>T | XP_016863655.1:n.1534+1393G>T | |
| NM_001318057.2:c.1571G>T | NP_001304986.2:p.Gly524Val | |
| NM_001331035.2:c.1526G>T | NP_001317964.1:p.Gly509Val | |
| NM_001375278.1:c.1558+1393G>T | NP_001362207.1:n.1558+1393G>T | |
| NM_001375279.1:c.1534+1393G>T | NP_001362208.1:n.1534+1393G>T | |
| NM_001375280.1:c.1513+1393G>T | NP_001362209.1:n.1513+1393G>T | |
| NM_001375281.1:c.1534+1393G>T | NP_001362210.1:n.1534+1393G>T | |
| NM_001375282.1:c.1513+1393G>T | NP_001362211.1:n.1513+1393G>T | |
| NM_001375283.1:c.1490G>T | NP_001362212.1:p.Gly497Val | |
| NM_001375284.1:c.938G>T | NP_001362213.1:p.Gly313Val | |
| NR_164671.1:n.1294G>T | ||
| NR_164672.1:n.1597G>T | ||
| NR_164673.1:n.1571G>T | ||
| NM_000204.5:c.1547G>T MANE Select | NP_000195.3:p.Gly516Val |