Linked Data
ClinVar Variation Id:
297943
dbSNP Id:
rs369876443
ExAC:
1:6528469 G / A
gnomAD v2:
1-6528469-G-A
gnomAD v3:
1-6468409-G-A
gnomAD v4:
1-6468409-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6468409G>A , CM000663.2:g.6468409G>A | GRCh38 |
| NC_000001.10:g.6528469G>A , CM000663.1:g.6528469G>A | GRCh37 |
| NC_000001.9:g.6451056G>A | NCBI36 |
| NG_007978.1:g.56601C>T , LRG_262:g.56601C>T | |
| NG_029910.1:g.2787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2427C>T | ENSP00000344570.5:p.Asp809= | |
| ENST00000377728.8:c.2427C>T MANE Select | ENSP00000366957.3:p.Asp809= | |
| ENST00000377740.5:c.2427C>T | ENSP00000366969.4:p.Asp809= | |
| ENST00000377748.6:c.2601C>T | ENSP00000366977.2:p.Asp867= | |
| ENST00000400913.6:c.2427C>T | ENSP00000383704.1:p.Asp809= | |
| ENST00000400915.8:c.2538C>T | ENSP00000383706.4:p.Asp846= | |
| ENST00000489097.6:n.2903C>T | ||
| ENST00000535355.6:c.2634C>T | ENSP00000441445.1:p.Asp878= | |
| ENST00000537245.6:c.2538C>T | ENSP00000439625.2:p.Asp846= | |
| ENST00000673471.2:c.2724C>T | ENSP00000500749.1:p.Asp908= | |
| ENST00000674790.1:c.*2639C>T | ENSP00000502815.1:n.*2639C>T | |
| ENST00000675123.1:c.2250-516C>T | ENSP00000502132.1:n.2250-516C>T | |
| ENST00000675548.1:c.*2255C>T | ENSP00000502684.1:n.*2255C>T | |
| ENST00000675694.1:c.2427C>T | ENSP00000501925.1:p.Asp809= | |
| ENST00000675976.1:c.300C>T | ENSP00000501611.1:p.Asp100= | |
| ENST00000340850.9:c.2427C>T | ENSP00000344570.5:p.Asp809= | |
| ENST00000377725.5:c.2427C>T | ENSP00000366954.1:p.Asp809= | |
| ENST00000377728.7:c.2427C>T | ENSP00000366957.3:p.Asp809= | |
| ENST00000377732.5:c.2538C>T | ENSP00000366961.1:p.Asp846= | |
| ENST00000377740.4:c.2481-516C>T | ENSP00000366969.3:n.2481-516C>T | |
| ENST00000377748.5:c.2658C>T | ENSP00000366977.1:p.Asp886= | |
| ENST00000400913.5:c.2427C>T | ENSP00000383704.1:p.Asp809= | |
| ENST00000400915.7:c.2595C>T | ENSP00000383706.3:p.Asp865= | |
| ENST00000487949.4:n.1629C>T | ||
| ENST00000489097.5:n.2903C>T | ||
| ENST00000535355.5:c.2634C>T | ENSP00000441445.1:p.Asp878= | |
| ENST00000537245.5:c.2664C>T | ENSP00000439625.1:p.Asp888= | |
| NM_001042663.1:c.2595C>T | NP_001036128.1:p.Asp865= | |
| NM_001042664.1:c.2427C>T | NP_001036129.1:p.Asp809= | |
| NM_001042665.1:c.2427C>T | NP_001036130.1:p.Asp809= | |
| NM_001265592.1:c.2664C>T | NP_001252521.1:p.Asp888= | |
| NM_001265593.1:c.2634C>T | NP_001252522.1:p.Asp878= | |
| NM_001265594.1:c.2427C>T | NP_001252523.1:p.Asp809= | |
| NM_020631.4:c.2427C>T | NP_065682.2:p.Asp809= | |
| NM_198681.3:c.2658C>T | NP_941374.2:p.Asp886= | |
| NM_001042663.2:c.2595C>T | NP_001036128.1:p.Asp865= | |
| NM_001265594.2:c.2427C>T | NP_001252523.1:p.Asp809= | |
| NM_020631.5:c.2427C>T | NP_065682.2:p.Asp809= | |
| NM_001042663.3:c.2538C>T | NP_001036128.2:p.Asp846= | |
| NM_001265592.2:c.2538C>T | NP_001252521.2:p.Asp846= | |
| NM_020631.6:c.2427C>T MANE Select | NP_065682.2:p.Asp809= | |
| NM_198681.4:c.2427C>T | NP_941374.3:p.Asp809= |