Linked Data
ClinVar Variation Id:
706412
ClinVar RCV Id:
RCV002539236
dbSNP Id:
rs745864268
ExAC:
7:141301026 A / G
gnomAD v2:
7-141301026-A-G
gnomAD v4:
7-141601226-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141601226A>G , CM000669.2:g.141601226A>G | GRCh38 |
| NC_000007.13:g.141301026A>G , CM000669.1:g.141301026A>G | GRCh37 |
| NC_000007.12:g.140947495A>G | NCBI36 |
| NG_032079.1:g.54949A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.243A>G | ENSP00000497039.1:p.Glu81= | |
| ENST00000647898.1:n.133A>G | ||
| ENST00000648068.1:c.243A>G | ENSP00000498112.1:p.Glu81= | |
| ENST00000648395.1:c.-34A>G | ENSP00000497666.1:n.-34A>G | |
| ENST00000648489.1:n.274A>G | ||
| ENST00000648690.1:c.-34A>G | ENSP00000497945.1:n.-34A>G | |
| ENST00000649014.1:c.243A>G | ENSP00000497984.1:p.Glu81= | |
| ENST00000649286.2:c.243A>G MANE Select | ENSP00000497280.1:p.Glu81= | |
| ENST00000649365.1:c.*251A>G | ENSP00000496835.1:n.*251A>G | |
| ENST00000649538.1:n.271A>G | ||
| ENST00000649790.1:c.-34A>G | ENSP00000498193.1:n.-34A>G | |
| ENST00000649914.1:c.231A>G | ENSP00000497848.1:p.Glu77= | |
| ENST00000650006.1:c.243A>G | ENSP00000497457.1:p.Glu81= | |
| ENST00000650365.1:c.*128A>G | ENSP00000497358.1:n.*128A>G | |
| ENST00000650547.1:c.243A>G | ENSP00000496789.1:p.Glu81= | |
| ENST00000355413.8:c.243A>G | ENSP00000347581.4:p.Glu81= | |
| ENST00000465241.5:n.254A>G | ||
| ENST00000473247.5:c.159A>G | ENSP00000420776.1:p.Glu53= | |
| ENST00000473884.5:c.*62A>G | ENSP00000420540.1:n.*62A>G | |
| ENST00000494688.1:c.234A>G | ENSP00000418101.1:p.Glu78= | |
| ENST00000496273.1:n.6A>G | ||
| ENST00000629555.2:c.234A>G | ENSP00000487274.1:p.Glu78= | |
| NM_018238.3:c.243A>G | NP_060708.1:p.Glu81= | |
| XM_005250023.3:c.243A>G | XP_005250080.1:p.Glu81= | |
| XM_011516397.1:c.243A>G | XP_011514699.1:p.Glu81= | |
| NM_001364948.1:c.243A>G | NP_001351877.1:p.Glu81= | |
| NM_018238.4:c.243A>G MANE Select | NP_060708.1:p.Glu81= | |
| XM_011516397.3:c.243A>G | XP_011514699.1:p.Glu81= | |
| XM_024446835.1:c.243A>G | XP_024302603.1:p.Glu81= | |
| NM_001364948.2:c.243A>G | NP_001351877.1:p.Glu81= | |
| NM_001364948.3:c.243A>G | NP_001351877.1:p.Glu81= |