Linked Data
ClinVar Variation Id:
461735
dbSNP Id:
rs199893056
ExAC:
11:4076858 C / A
gnomAD v2:
11-4076858-C-A
gnomAD v3:
11-4055628-C-A
gnomAD v4:
11-4055628-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4055628C>A , CM000673.2:g.4055628C>A | GRCh38 |
| NC_000011.9:g.4076858C>A , CM000673.1:g.4076858C>A | GRCh37 |
| NC_000011.8:g.4033434C>A | NCBI36 |
| NG_016277.1:g.204926C>A , LRG_164:g.204926C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.266C>A | ENSP00000432210.2:p.Ala89Asp | |
| ENST00000533343.2:n.1087C>A | ||
| ENST00000698909.1:n.535C>A | ||
| ENST00000698910.1:c.-2C>A | ENSP00000514024.1:n.-2C>A | |
| ENST00000698911.1:c.266C>A | ENSP00000514025.1:p.Ala89Asp | |
| ENST00000698912.1:c.266C>A | ENSP00000514026.1:p.Ala89Asp | |
| ENST00000698913.1:c.266C>A | ENSP00000514027.1:p.Ala89Asp | |
| ENST00000698914.1:c.488C>A | ENSP00000514028.1:p.Ala163Asp | |
| ENST00000698915.1:c.488C>A | ENSP00000514029.1:p.Ala163Asp | |
| ENST00000698916.1:c.488C>A | ENSP00000514030.1:p.Ala163Asp | |
| ENST00000698918.1:c.*189C>A | ENSP00000514031.1:n.*189C>A | |
| ENST00000698919.1:c.488C>A | ENSP00000514032.1:p.Ala163Asp | |
| ENST00000526596.2:c.488C>A MANE Select | ENSP00000433266.2:p.Ala163Asp | |
| ENST00000300737.8:c.488C>A | ENSP00000300737.4:p.Ala163Asp | |
| ENST00000525403.5:c.266C>A | ENSP00000432210.1:p.Ala89Asp | |
| ENST00000526771.5:n.293C>A | ||
| ENST00000527484.5:n.399C>A | ||
| ENST00000527651.5:c.488C>A | ENSP00000436208.1:p.Ala163Asp | |
| ENST00000528656.5:c.266C>A | ENSP00000432378.1:p.Ala89Asp | |
| ENST00000532610.5:c.266C>A | ENSP00000434848.1:p.Ala89Asp | |
| ENST00000532919.5:c.266C>A | ENSP00000433949.1:p.Ala89Asp | |
| ENST00000533445.1:n.106C>A | ||
| ENST00000616714.4:c.488C>A | ENSP00000478059.1:p.Ala163Asp | |
| NM_001277961.1:c.488C>A | NP_001264890.1:p.Ala163Asp | |
| NM_001277962.1:c.488C>A | NP_001264891.1:p.Ala163Asp | |
| NM_003156.3:c.488C>A , LRG_164t1:c.488C>A | NP_003147.2:p.Ala163Asp | |
| NM_001277962.2:c.488C>A | NP_001264891.1:p.Ala163Asp | |
| NM_001277961.3:c.488C>A | NP_001264890.1:p.Ala163Asp | |
| NM_001382566.1:c.266C>A | NP_001369495.1:p.Ala89Asp | |
| NM_001382567.1:c.488C>A MANE Select | NP_001369496.1:p.Ala163Asp | |
| NM_001382568.1:c.488C>A | NP_001369497.1:p.Ala163Asp | |
| NM_001382569.1:c.353C>A | NP_001369498.1:p.Ala118Asp | |
| NM_001382570.1:c.386-14398C>A | NP_001369499.1:n.386-14398C>A | |
| NM_001382571.1:c.18-3653C>A | NP_001369500.1:n.18-3653C>A | |
| NM_001382572.1:c.488C>A | NP_001369501.1:p.Ala163Asp | |
| NM_001382573.1:c.266C>A | NP_001369502.1:p.Ala89Asp | |
| NM_001382574.1:c.266C>A | NP_001369503.1:p.Ala89Asp | |
| NM_001382575.1:c.266C>A | NP_001369504.1:p.Ala89Asp | |
| NM_001382576.1:c.266C>A | NP_001369505.1:p.Ala89Asp | |
| NM_001382577.1:c.266C>A | NP_001369506.1:p.Ala89Asp | |
| NM_001382578.1:c.266C>A | NP_001369507.1:p.Ala89Asp | |
| NM_001382579.1:c.266C>A | NP_001369508.1:p.Ala89Asp | |
| NM_001382580.1:c.-2C>A | NP_001369509.1:n.-2C>A | |
| NM_001382581.1:c.-2C>A | NP_001369510.1:n.-2C>A | |
| NM_003156.4:c.488C>A | NP_003147.2:p.Ala163Asp | |
| NR_168436.1:n.1095C>A | ||
| NR_168437.1:n.1095C>A | ||
| NR_168438.1:n.1095C>A |