Linked Data
ClinVar Variation Id:
255167
dbSNP Id:
rs34917815
ExAC:
10:50667278 A / C
gnomAD v2:
10-50667278-A-C
gnomAD v3:
10-49459232-A-C
gnomAD v4:
10-49459232-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49459232A>C , CM000672.2:g.49459232A>C | GRCh38 |
| NC_000010.10:g.50667278A>C , CM000672.1:g.50667278A>C | GRCh37 |
| NC_000010.9:g.50337284A>C | NCBI36 |
| NG_009442.1:g.84870T>G , LRG_465:g.84870T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.4065T>G MANE Select | ENSP00000348089.5:p.Asp1355Glu | |
| ENST00000679552.1:n.2274T>G | ||
| ENST00000679871.1:n.1211T>G | ||
| ENST00000679974.1:n.1114T>G | ||
| ENST00000681632.1:n.5468T>G | ||
| ENST00000681659.1:c.3906T>G | ENSP00000505631.1:p.Asp1302Glu | |
| ENST00000355832.9:c.4065T>G | ENSP00000348089.5:p.Asp1355Glu | |
| ENST00000623073.3:c.*2361T>G | ENSP00000485650.1:n.*2361T>G | |
| ENST00000623115.3:c.2175T>G | ENSP00000485321.1:p.Asp725Glu | |
| ENST00000624341.3:c.1897T>G | ||
| NM_000124.3:c.4065T>G | NP_000115.1:p.Asp1355Glu | |
| XR_945953.1:n.243-12333A>C | ||
| NM_001346440.1:c.4065T>G | NP_001333369.1:p.Asp1355Glu | |
| NM_000124.4:c.4065T>G MANE Select | NP_000115.1:p.Asp1355Glu | |
| NM_001346440.2:c.4065T>G | NP_001333369.1:p.Asp1355Glu |