Linked Data
ClinVar Variation Id:
467052
dbSNP Id:
rs373508919
ExAC:
2:179535019 G / A
gnomAD v2:
2-179535019-G-A
gnomAD v3:
2-178670292-G-A
gnomAD v4:
2-178670292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178670292G>A , CM000664.2:g.178670292G>A | GRCh38 |
| NC_000002.11:g.179535019G>A , CM000664.1:g.179535019G>A | GRCh37 |
| NC_000002.10:g.179243264G>A | NCBI36 |
| NG_011618.3:g.165511C>T , LRG_391:g.165511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.31409C>T | ENSP00000343764.6:p.Pro10470Leu | |
| ENST00000342175.11:c.13859-27975C>T | ENSP00000340554.6:n.13859-27975C>T | |
| ENST00000359218.10:c.13658-27975C>T | ENSP00000352154.5:n.13658-27975C>T | |
| ENST00000342175.10:c.13859-27975C>T | ENSP00000340554.6:n.13859-27975C>T | |
| ENST00000342992.10:c.31409C>T | ENSP00000343764.6:p.Pro10470Leu | |
| ENST00000359218.9:c.13658-27975C>T | ENSP00000352154.5:n.13658-27975C>T | |
| ENST00000414766.5:c.2440+3341C>T | ENSP00000401501.1:n.2440+3341C>T | |
| ENST00000448510.2:c.394C>T | ||
| ENST00000460472.6:c.13283-27975C>T | ENSP00000434586.1:n.13283-27975C>T | |
| ENST00000589042.5:c.35312C>T MANE Select | ENSP00000467141.1:p.Pro11771Leu | |
| ENST00000591111.5:c.34190C>T | ENSP00000465570.1:p.Pro11397Leu | |
| ENST00000615779.4:c.34190C>T | ENSP00000483597.1:p.Pro11397Leu | |
| NM_001256850.1:c.34190C>T | NP_001243779.1:p.Pro11397Leu | |
| NM_001267550.2:c.35312C>T MANE Select | NP_001254479.2:p.Pro11771Leu | |
| NM_003319.4:c.13283-27975C>T | NP_003310.4:n.13283-27975C>T | |
| NM_133378.4:c.31409C>T | NP_596869.4:p.Pro10470Leu | |
| NM_133432.3:c.13658-27975C>T | NP_597676.3:n.13658-27975C>T | |
| NM_133437.4:c.13859-27975C>T | NP_597681.4:n.13859-27975C>T | |
| XM_011511729.1:c.34409C>T | XP_011510031.1:p.Pro11470Leu | |
| XM_011511730.1:c.13469-27975C>T | XP_011510032.1:n.13469-27975C>T | |
| XM_011511731.1:c.13328-27975C>T | XP_011510033.1:n.13328-27975C>T | |
| XM_017004819.1:c.34364C>T | XP_016860308.1:p.Pro11455Leu | |
| XM_017004820.1:c.31412C>T | XP_016860309.1:p.Pro10471Leu | |
| XM_017004821.1:c.31409C>T | XP_016860310.1:p.Pro10470Leu | |
| XM_017004822.1:c.31858+3341C>T | XP_016860311.1:n.31858+3341C>T | |
| XM_017004823.1:c.13424-27975C>T | XP_016860312.1:n.13424-27975C>T | |
| XM_024453094.1:c.33224C>T | XP_024308862.1:p.Pro11075Leu | |
| XM_024453095.1:c.33295+3341C>T | XP_024308863.1:n.33295+3341C>T | |
| XM_024453096.1:c.32654C>T | XP_024308864.1:p.Pro10885Leu | |
| XM_024453097.1:c.31690+3341C>T | XP_024308865.1:n.31690+3341C>T | |
| XM_024453098.1:c.31609+3341C>T | XP_024308866.1:n.31609+3341C>T | |
| XM_024453099.1:c.13424-27975C>T | XP_024308867.1:n.13424-27975C>T |