Linked Data
ClinVar Variation Id:
553652
ClinVar RCV Id:
RCV000669148
dbSNP Id:
rs763008231
gnomAD v3:
11-119026065-A-C
gnomAD v4:
11-119026065-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026065A>C , CM000673.2:g.119026065A>C | GRCh38 |
| NC_000011.9:g.118896775A>C , CM000673.1:g.118896775A>C | GRCh37 |
| NC_000011.8:g.118401985A>C | NCBI36 |
| NG_013331.1:g.9841T>G , LRG_187:g.9841T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1030T>G | ||
| ENST00000697845.1:n.1810T>G | ||
| ENST00000697846.1:n.1030T>G | ||
| ENST00000697847.1:n.1202-308T>G | ||
| ENST00000697848.1:n.1116T>G | ||
| ENST00000697849.1:n.2925T>G | ||
| ENST00000697850.1:n.1116T>G | ||
| ENST00000697851.1:n.2724T>G | ||
| ENST00000638186.1:n.1190T>G | ||
| ENST00000638360.1:n.1022T>G | ||
| ENST00000638925.1:n.1155T>G | ||
| ENST00000650539.1:n.1292T>G | ||
| ENST00000330775.9:c.886T>G | ENSP00000476242.2:p.Tyr296Asp | |
| ENST00000357590.9:c.886T>G | ENSP00000476176.2:p.Tyr296Asp | |
| ENST00000524428.5:n.1122T>G | ||
| ENST00000525039.5:n.1310T>G | ||
| ENST00000525102.5:n.1644T>G | ||
| ENST00000525372.5:n.984T>G | ||
| ENST00000526275.5:n.1668T>G | ||
| ENST00000527992.5:n.1114T>G | ||
| ENST00000529510.5:n.574T>G | ||
| ENST00000530407.5:n.1036T>G | ||
| ENST00000532085.1:n.4267T>G | ||
| ENST00000538950.5:c.667T>G | ENSP00000475991.2:p.Tyr223Asp | |
| ENST00000545985.5:c.886T>G | ENSP00000475241.2:p.Tyr296Asp | |
| NM_001164277.1:c.886T>G , LRG_187t1:c.886T>G | NP_001157749.1:p.Tyr296Asp | |
| NM_001164278.1:c.886T>G | NP_001157750.1:p.Tyr296Asp | |
| NM_001164279.1:c.667T>G | NP_001157751.1:p.Tyr223Asp | |
| NM_001164280.1:c.886T>G | NP_001157752.1:p.Tyr296Asp | |
| NM_001467.5:c.886T>G | NP_001458.1:p.Tyr296Asp | |
| NM_001164278.2:c.886T>G | NP_001157750.1:p.Tyr296Asp | |
| NM_001164279.2:c.667T>G | NP_001157751.1:p.Tyr223Asp | |
| NM_001164280.2:c.886T>G | NP_001157752.1:p.Tyr296Asp | |
| NM_001467.6:c.886T>G | NP_001458.1:p.Tyr296Asp | |
| NM_001164277.2:c.886T>G MANE Select | NP_001157749.1:p.Tyr296Asp |