Linked Data
ClinVar Variation Id:
296469
dbSNP Id:
rs193138062
gnomAD v2:
1-236646916-A-G
gnomAD v3:
1-236483616-A-G
gnomAD v4:
1-236483616-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236483616A>G , CM000663.2:g.236483616A>G | GRCh38 |
| NC_000001.10:g.236646916A>G , CM000663.1:g.236646916A>G | GRCh37 |
| NC_000001.9:g.234713539A>G | NCBI36 |
| NG_011566.1:g.94237A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.*967A>G (EDARADD) MANE Select | ENSP00000335076.4:n.*967A>G | |
| ENST00000359362.6:c.*967A>G (EDARADD) | ENSP00000352320.4:n.*967A>G | |
| ENST00000637660.1:c.*967A>G (EDARADD) | ENSP00000490347.1:n.*967A>G | |
| ENST00000642595.1:c.236-8121A>G (EDARADD) | ENSP00000494458.1:n.236-8121A>G | |
| ENST00000359362.5:c.*967A>G (EDARADD) | ENSP00000352320.4:n.*967A>G | |
| ENST00000366587.4:n.452A>G (ENO1P1) | ||
| NM_080738.3:c.*967A>G (EDARADD) | NP_542776.1:n.*967A>G | |
| NM_145861.2:c.*967A>G (EDARADD) | NP_665860.2:n.*967A>G | |
| NM_080738.4:c.*967A>G (EDARADD) | NP_542776.1:n.*967A>G | |
| NM_145861.4:c.*967A>G (EDARADD) MANE Select | NP_665860.2:n.*967A>G |