Linked Data
ClinVar Variation Id:
457978
dbSNP Id:
rs532934034
ExAC:
8:1728538 G / A
gnomAD v2:
8-1728538-G-A
gnomAD v3:
8-1780372-G-A
gnomAD v4:
8-1780372-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1780372G>A , CM000670.2:g.1780372G>A | GRCh38 |
| NC_000008.10:g.1728538G>A , CM000670.1:g.1728538G>A | GRCh37 |
| NC_000008.9:g.1715945G>A | NCBI36 |
| NG_008656.2:g.29595G>A , LRG_691:g.29595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331222.6:c.666G>A MANE Select | ENSP00000328182.4:p.Leu222= | |
| ENST00000519254.2:c.666G>A | ENSP00000490016.1:p.Leu222= | |
| ENST00000520991.3:c.*77G>A | ENSP00000487905.2:n.*77G>A | |
| ENST00000635751.1:c.666G>A | ENSP00000489694.1:p.Leu222= | |
| ENST00000635773.1:c.496+8775G>A | ||
| ENST00000635855.1:c.543+8775G>A | ENSP00000489726.1:n.543+8775G>A | |
| ENST00000635970.1:c.666G>A | ENSP00000490439.1:p.Leu222= | |
| ENST00000636175.1:c.343+8775G>A | ||
| ENST00000636934.1:c.543+8775G>A | ENSP00000490218.1:n.543+8775G>A | |
| ENST00000637083.1:c.666G>A | ENSP00000490235.1:p.Leu222= | |
| ENST00000637156.1:c.666G>A | ENSP00000490458.1:p.Leu222= | |
| ENST00000331222.4:c.666G>A | ENSP00000328182.4:p.Leu222= | |
| ENST00000519254.1:n.185G>A | ||
| ENST00000523237.1:n.441G>A | ||
| NM_018941.3:c.666G>A , LRG_691t1:c.666G>A | NP_061764.2:p.Leu222= | |
| XM_005266021.3:c.666G>A | XP_005266078.1:p.Leu222= | |
| XM_005266022.1:c.666G>A | XP_005266079.1:p.Leu222= | |
| XM_005266023.1:c.666G>A | XP_005266080.1:p.Leu222= | |
| XM_011534745.1:c.666G>A | XP_011533047.1:p.Leu222= | |
| XM_011534746.1:c.666G>A | XP_011533048.1:p.Leu222= | |
| XM_005266021.4:c.666G>A | XP_005266078.1:p.Leu222= | |
| XM_011534746.2:c.666G>A | XP_011533048.1:p.Leu222= | |
| NM_018941.4:c.666G>A MANE Select | NP_061764.2:p.Leu222= |