Linked Data
dbSNP Id:
rs760320200
ExAC:
1:55529307 A / G
gnomAD v2:
1-55529307-A-G
gnomAD v3:
1-55063634-A-G
gnomAD v4:
1-55063634-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063634A>G , CM000663.2:g.55063634A>G | GRCh38 |
| NC_000001.10:g.55529307A>G , CM000663.1:g.55529307A>G | GRCh37 |
| NC_000001.9:g.55301895A>G | NCBI36 |
| NG_009061.1:g.29088A>G , LRG_275:g.29088A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*469A>G | ENSP00000501161.2:n.*469A>G | |
| ENST00000710286.1:c.*50A>G | ENSP00000518176.1:n.*50A>G | |
| ENST00000673903.1:c.*50A>G | ENSP00000501257.1:n.*50A>G | |
| ENST00000302118.5:c.*50A>G MANE Select | ENSP00000303208.5:n.*50A>G | |
| ENST00000490692.1:n.2675A>G | ||
| NM_174936.3:c.*50A>G , LRG_275t1:c.*50A>G | NP_777596.2:n.*50A>G | |
| NR_110451.1:n.1736A>G | ||
| XM_011541193.1:c.*50A>G | XP_011539495.1:n.*50A>G | |
| NM_174936.4:c.*50A>G MANE Select | NP_777596.2:n.*50A>G | |
| NR_110451.2:n.1736A>G |