Linked Data
ClinVar Variation Id:
293273
dbSNP Id:
rs754241926
ExAC:
1:161176331 A / G
gnomAD v2:
1-161176331-A-G
gnomAD v3:
1-161206541-A-G
gnomAD v4:
1-161206541-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161206541A>G , CM000663.2:g.161206541A>G | GRCh38 |
| NC_000001.10:g.161176331A>G , CM000663.1:g.161176331A>G | GRCh37 |
| NC_000001.9:g.159442955A>G | NCBI36 |
| NG_013352.1:g.12227A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392179.5:c.337A>G | ENSP00000376018.4:p.Ile113Val | |
| ENST00000465923.6:n.109A>G | ||
| ENST00000467295.6:n.865A>G | ||
| ENST00000480762.6:n.251A>G | ||
| ENST00000493849.6:n.436A>G | ||
| ENST00000496553.6:n.1076A>G | ||
| ENST00000676535.1:n.640A>G | ||
| ENST00000676583.1:c.337A>G | ENSP00000503681.1:p.Ile113Val | |
| ENST00000676600.1:c.337A>G | ENSP00000503989.1:p.Ile113Val | |
| ENST00000676653.1:n.653A>G | ||
| ENST00000676726.1:n.436A>G | ||
| ENST00000676770.1:n.1203A>G | ||
| ENST00000676795.1:c.96-2652A>G | ENSP00000504650.1:n.96-2652A>G | |
| ENST00000676871.1:n.436A>G | ||
| ENST00000676972.1:c.337A>G MANE Select | ENSP00000503117.1:p.Ile113Val | |
| ENST00000676991.1:n.1057A>G | ||
| ENST00000677033.1:n.1145A>G | ||
| ENST00000677045.1:c.*8A>G | ENSP00000504168.1:n.*8A>G | |
| ENST00000677050.1:n.436A>G | ||
| ENST00000677063.1:c.*8A>G | ENSP00000504572.1:n.*8A>G | |
| ENST00000677081.1:c.337A>G | ENSP00000503728.1:p.Ile113Val | |
| ENST00000677089.1:n.251A>G | ||
| ENST00000677103.1:n.103-2652A>G | ||
| ENST00000677138.1:c.337A>G | ENSP00000504839.1:p.Ile113Val | |
| ENST00000677178.1:n.640A>G | ||
| ENST00000677231.1:c.337A>G | ENSP00000503378.1:p.Ile113Val | |
| ENST00000677336.1:n.251A>G | ||
| ENST00000677350.1:n.640A>G | ||
| ENST00000677358.1:n.251A>G | ||
| ENST00000677383.1:n.640A>G | ||
| ENST00000677453.1:c.337A>G | ENSP00000503604.1:p.Ile113Val | |
| ENST00000677457.1:c.337A>G | ENSP00000503294.1:p.Ile113Val | |
| ENST00000677471.1:n.251A>G | ||
| ENST00000677495.1:n.436A>G | ||
| ENST00000677547.1:c.337A>G | ENSP00000504269.1:p.Ile113Val | |
| ENST00000677550.1:c.337A>G | ENSP00000503353.1:p.Ile113Val | |
| ENST00000677577.1:n.436A>G | ||
| ENST00000677579.1:c.337A>G | ENSP00000504162.1:p.Ile113Val | |
| ENST00000677613.1:c.337A>G | ENSP00000504258.1:p.Ile113Val | |
| ENST00000677643.1:n.251A>G | ||
| ENST00000677653.1:c.337A>G | ENSP00000504542.1:p.Ile113Val | |
| ENST00000677657.1:n.436A>G | ||
| ENST00000677736.1:n.436A>G | ||
| ENST00000677745.1:n.251A>G | ||
| ENST00000677807.1:n.640A>G | ||
| ENST00000677809.1:n.640A>G | ||
| ENST00000677837.1:c.*8A>G | ENSP00000503661.1:n.*8A>G | |
| ENST00000677846.1:c.337A>G | ENSP00000504065.1:p.Ile113Val | |
| ENST00000677916.1:n.436A>G | ||
| ENST00000677925.1:n.640A>G | ||
| ENST00000677948.1:c.*8A>G | ENSP00000503510.1:n.*8A>G | |
| ENST00000678052.1:n.640A>G | ||
| ENST00000678068.1:n.1312A>G | ||
| ENST00000678130.1:n.1048A>G | ||
| ENST00000678328.1:n.436A>G | ||
| ENST00000678356.1:n.757A>G | ||
| ENST00000678484.1:n.436A>G | ||
| ENST00000678492.1:n.640A>G | ||
| ENST00000678507.1:c.337A>G | ENSP00000504199.1:p.Ile113Val | |
| ENST00000678511.1:c.337A>G | ENSP00000504846.1:p.Ile113Val | |
| ENST00000678532.1:c.*8A>G | ENSP00000504682.1:n.*8A>G | |
| ENST00000678559.1:c.*8A>G | ENSP00000504285.1:n.*8A>G | |
| ENST00000678605.1:c.337A>G | ENSP00000503969.1:p.Ile113Val | |
| ENST00000678613.1:n.640A>G | ||
| ENST00000678648.1:n.251A>G | ||
| ENST00000678783.1:c.337A>G | ENSP00000504215.1:p.Ile113Val | |
| ENST00000678793.1:c.337A>G | ENSP00000503431.1:p.Ile113Val | |
| ENST00000678850.1:n.436A>G | ||
| ENST00000678880.1:c.*8A>G | ENSP00000503015.1:n.*8A>G | |
| ENST00000678911.1:c.337A>G | ENSP00000503946.1:p.Ile113Val | |
| ENST00000678966.1:n.640A>G | ||
| ENST00000678982.1:c.*8A>G | ENSP00000504597.1:n.*8A>G | |
| ENST00000679064.1:c.337A>G | ENSP00000502868.1:p.Ile113Val | |
| ENST00000679071.1:n.429A>G | ||
| ENST00000679142.1:c.314A>G | ENSP00000504800.1:n.314A>G | |
| ENST00000679169.1:c.*8A>G | ENSP00000504096.1:n.*8A>G | |
| ENST00000679176.1:c.337A>G | ENSP00000504170.1:p.Ile113Val | |
| ENST00000679215.1:n.640A>G | ||
| ENST00000679218.1:c.388A>G | ENSP00000504577.1:p.Ile130Val | |
| ENST00000679239.1:c.337A>G | ENSP00000504555.1:p.Ile113Val | |
| ENST00000679282.1:c.337A>G | ENSP00000504533.1:p.Ile113Val | |
| ENST00000367993.7:c.337A>G | ENSP00000356972.3:p.Ile113Val | |
| ENST00000392179.4:c.337A>G | ENSP00000376018.4:p.Ile113Val | |
| ENST00000467295.5:n.425A>G | ||
| ENST00000473321.1:n.133A>G | ||
| ENST00000478866.5:n.347A>G | ||
| ENST00000479948.5:n.629A>G | ||
| ENST00000496133.5:n.645A>G | ||
| ENST00000496553.5:n.677A>G | ||
| NM_001166159.1:c.337A>G | NP_001159631.1:p.Ile113Val | |
| NM_004550.4:c.337A>G | NP_004541.1:p.Ile113Val | |
| XM_005245208.1:c.337A>G | XP_005245265.1:p.Ile113Val | |
| XM_005245209.1:c.43A>G | XP_005245266.1:p.Ile15Val | |
| XM_005245209.2:c.43A>G | XP_005245266.1:p.Ile15Val | |
| NM_001166159.2:c.337A>G | NP_001159631.1:p.Ile113Val | |
| NM_001377298.1:c.337A>G | NP_001364227.1:p.Ile113Val | |
| NM_001377299.1:c.337A>G MANE Select | NP_001364228.1:p.Ile113Val | |
| NM_001377300.1:c.337A>G | NP_001364229.1:p.Ile113Val | |
| NM_001377301.1:c.337A>G | NP_001364230.1:p.Ile113Val | |
| NM_001377302.1:c.337A>G | NP_001364231.1:p.Ile113Val | |
| NR_165188.1:n.356A>G | ||
| NM_004550.5:c.337A>G | NP_004541.1:p.Ile113Val |