Linked Data
ClinVar Variation Id:
292752
ClinVar RCV Id:
RCV000342770
dbSNP Id:
rs886045335
gnomAD v3:
1-154584489-A-C
gnomAD v4:
1-154584489-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154584489A>C , CM000663.2:g.154584489A>C | GRCh38 |
| NC_000001.10:g.154556965A>C , CM000663.1:g.154556965A>C | GRCh37 |
| NC_000001.9:g.152823589A>C | NCBI36 |
| NG_011844.1:g.48473T>G | |
| NG_011844.2:g.52072T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.3892T>G (ADAR) | ENSP00000497790.2:n.3892T>G | |
| ENST00000649724.2:c.*317T>G (ADAR) | ENSP00000497932.2:n.*317T>G | |
| ENST00000680270.2:c.3881T>G (ADAR) | ENSP00000505532.2:n.3881T>G | |
| ENST00000681056.2:c.*317T>G (ADAR) | ENSP00000506234.2:n.*317T>G | |
| ENST00000368471.8:c.*317T>G (ADAR) | ENSP00000357456.3:n.*317T>G | |
| ENST00000368474.9:c.*317T>G (ADAR) MANE Select | ENSP00000357459.4:n.*317T>G | |
| ENST00000492630.2:n.2791T>G (ADAR) | ||
| ENST00000529168.2:c.*317T>G (ADAR) | ENSP00000431794.2:n.*317T>G | |
| ENST00000647682.2:n.3983T>G (ADAR) | ||
| ENST00000648231.2:c.*317T>G (ADAR) | ENSP00000497555.1:n.*317T>G | |
| ENST00000648311.1:c.*317T>G (ADAR) | ENSP00000498137.1:n.*317T>G | |
| ENST00000648714.2:c.*1473T>G (ADAR) | ENSP00000497434.2:n.*1473T>G | |
| ENST00000649021.1:n.4734T>G (ADAR) | ||
| ENST00000649022.2:c.*317T>G (ADAR) | ENSP00000496896.2:n.*317T>G | |
| ENST00000649042.1:c.*317T>G (ADAR) | ENSP00000497790.1:n.*317T>G | |
| ENST00000649408.2:c.*1164T>G (ADAR) | ENSP00000497386.2:n.*1164T>G | |
| ENST00000649724.1:c.*317T>G (ADAR) | ENSP00000497932.1:n.*317T>G | |
| ENST00000649749.1:c.*317T>G (ADAR) | ENSP00000497210.1:n.*317T>G | |
| ENST00000679375.1:c.*2230T>G (ADAR) | ENSP00000505887.1:n.*2230T>G | |
| ENST00000679465.1:n.4859T>G (ADAR) | ||
| ENST00000679805.1:n.4734T>G (ADAR) | ||
| ENST00000679899.1:c.*317T>G (ADAR) | ENSP00000505996.1:n.*317T>G | |
| ENST00000680270.1:c.*317T>G (ADAR) | ENSP00000505532.1:n.*317T>G | |
| ENST00000680305.1:c.*317T>G (ADAR) | ENSP00000506312.1:n.*317T>G | |
| ENST00000681056.1:c.*317T>G (ADAR) | ENSP00000506234.1:n.*317T>G | |
| ENST00000681235.1:c.*3520T>G (ADAR) | ENSP00000506606.1:n.*3520T>G | |
| ENST00000681429.1:n.3666T>G (ADAR) | ||
| ENST00000681683.1:c.*317T>G (ADAR) | ENSP00000506666.1:n.*317T>G | |
| ENST00000681786.1:n.4859T>G (ADAR) | ||
| ENST00000681901.1:c.*3598T>G (ADAR) | ENSP00000504883.1:n.*3598T>G | |
| ENST00000368471.7:c.*317T>G (ADAR) | ENSP00000357456.3:n.*317T>G | |
| ENST00000368474.8:c.*317T>G (ADAR) | ENSP00000357459.4:n.*317T>G | |
| NM_001025107.2:c.*317T>G (ADAR) | NP_001020278.1:n.*317T>G | |
| NM_001111.4:c.*317T>G (ADAR) | NP_001102.2:n.*317T>G | |
| NM_001193495.1:c.*317T>G (ADAR) | NP_001180424.1:n.*317T>G | |
| NM_015840.3:c.*317T>G (ADAR) | NP_056655.2:n.*317T>G | |
| NM_015841.3:c.*317T>G (ADAR) | NP_056656.2:n.*317T>G | |
| XM_006711109.1:c.*317T>G (ADAR) | XP_006711172.1:n.*317T>G | |
| XM_006711111.2:c.*317T>G (ADAR) | XP_006711174.1:n.*317T>G | |
| XM_006711112.1:c.*317T>G (ADAR) | XP_006711175.1:n.*317T>G | |
| XM_006711113.1:c.*317T>G (ADAR) | XP_006711176.1:n.*317T>G | |
| XM_011509060.1:c.*317T>G (ADAR) | XP_011507362.1:n.*317T>G | |
| XM_011509061.1:c.*317T>G (ADAR) | XP_011507363.1:n.*317T>G | |
| XM_011509062.1:c.*317T>G (ADAR) | XP_011507364.1:n.*317T>G | |
| NM_001025107.3:c.*317T>G (ADAR) | NP_001020278.1:n.*317T>G | |
| NM_001111.5:c.*317T>G (ADAR) MANE Select | NP_001102.3:n.*317T>G | |
| NM_001193495.2:c.*317T>G (ADAR) | NP_001180424.1:n.*317T>G | |
| NM_001365045.1:c.*317T>G (ADAR) | NP_001351974.1:n.*317T>G | |
| NM_001365046.1:c.*317T>G (ADAR) | NP_001351975.1:n.*317T>G | |
| NM_001365047.1:c.*317T>G (ADAR) | NP_001351976.1:n.*317T>G | |
| NM_001365048.1:c.*317T>G (ADAR) | NP_001351977.1:n.*317T>G | |
| NM_001365049.1:c.*317T>G (ADAR) | NP_001351978.1:n.*317T>G | |
| NM_015840.4:c.*317T>G (ADAR) | NP_056655.3:n.*317T>G | |
| NM_015841.4:c.*317T>G (ADAR) | NP_056656.3:n.*317T>G | |
| XM_006711113.2:c.*317T>G (ADAR) | XP_006711176.1:n.*317T>G | |
| XM_011509061.2:c.*317T>G (ADAR) | XP_011507363.2:n.*317T>G | |
| XM_017000180.2:c.*8557A>C (CHRNB2) | XP_016855669.1:n.*8557A>C | |
| XM_024449674.1:c.*317T>G (ADAR) | XP_024305442.1:n.*317T>G | |
| XR_001736952.2:n.9504A>C (CHRNB2) |