Linked Data
ClinVar Variation Id:
214795
dbSNP Id:
rs144411579
ExAC:
1:161183191 C / G
gnomAD v2:
1-161183191-C-G
gnomAD v3:
1-161213401-C-G
gnomAD v4:
1-161213401-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161213401C>G , CM000663.2:g.161213401C>G | GRCh38 |
| NC_000001.10:g.161183191C>G , CM000663.1:g.161183191C>G | GRCh37 |
| NC_000001.9:g.159449815C>G | NCBI36 |
| NG_013352.1:g.19087C>G | |
| NG_029043.1:g.3105C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392179.5:c.1138C>G | ENSP00000376018.4:p.His380Asp | |
| ENST00000465923.6:n.789C>G | ||
| ENST00000467295.6:n.1666C>G | ||
| ENST00000468828.6:n.965C>G | ||
| ENST00000480762.6:n.1368C>G | ||
| ENST00000483804.6:n.650C>G | ||
| ENST00000493849.6:n.1993C>G | ||
| ENST00000496553.6:n.1877C>G | ||
| ENST00000676535.1:n.1620C>G | ||
| ENST00000676583.1:c.*609C>G | ENSP00000503681.1:n.*609C>G | |
| ENST00000676600.1:c.1138C>G | ENSP00000503989.1:p.His380Asp | |
| ENST00000676653.1:n.1894C>G | ||
| ENST00000676726.1:n.1567C>G | ||
| ENST00000676770.1:n.2004C>G | ||
| ENST00000676795.1:c.*720C>G | ENSP00000504650.1:n.*720C>G | |
| ENST00000676871.1:n.1677C>G | ||
| ENST00000676972.1:c.1138C>G MANE Select | ENSP00000503117.1:p.His380Asp | |
| ENST00000676991.1:n.1728C>G | ||
| ENST00000677033.1:n.2207C>G | ||
| ENST00000677045.1:c.*809C>G | ENSP00000504168.1:n.*809C>G | |
| ENST00000677050.1:n.1792C>G | ||
| ENST00000677063.1:c.*809C>G | ENSP00000504572.1:n.*809C>G | |
| ENST00000677081.1:c.*70C>G | ENSP00000503728.1:n.*70C>G | |
| ENST00000677089.1:n.2692C>G | ||
| ENST00000677103.1:n.1603C>G | ||
| ENST00000677138.1:c.*115C>G | ENSP00000504839.1:n.*115C>G | |
| ENST00000677178.1:n.1441C>G | ||
| ENST00000677231.1:c.1060C>G | ENSP00000503378.1:p.His354Asp | |
| ENST00000677336.1:n.1492C>G | ||
| ENST00000677350.1:n.1936C>G | ||
| ENST00000677358.1:n.1231C>G | ||
| ENST00000677383.1:n.2604C>G | ||
| ENST00000677453.1:c.1201C>G | ENSP00000503604.1:p.His401Asp | |
| ENST00000677457.1:c.1138C>G | ENSP00000503294.1:p.His380Asp | |
| ENST00000677471.1:n.1492C>G | ||
| ENST00000677495.1:n.1498C>G | ||
| ENST00000677547.1:c.*212C>G | ENSP00000504269.1:n.*212C>G | |
| ENST00000677550.1:c.1138C>G | ENSP00000503353.1:p.His380Asp | |
| ENST00000677577.1:n.3633C>G | ||
| ENST00000677579.1:c.1201C>G | ENSP00000504162.1:p.His401Asp | |
| ENST00000677613.1:c.*70C>G | ENSP00000504258.1:n.*70C>G | |
| ENST00000677643.1:n.1547C>G | ||
| ENST00000677653.1:c.*513C>G | ENSP00000504542.1:n.*513C>G | |
| ENST00000677657.1:n.1547C>G | ||
| ENST00000677736.1:n.1792C>G | ||
| ENST00000677745.1:n.1951C>G | ||
| ENST00000677807.1:n.1757C>G | ||
| ENST00000677809.1:n.1936C>G | ||
| ENST00000677837.1:c.*872C>G | ENSP00000503661.1:n.*872C>G | |
| ENST00000677846.1:c.1201C>G | ENSP00000504065.1:p.His401Asp | |
| ENST00000677916.1:n.3317C>G | ||
| ENST00000677925.1:n.1757C>G | ||
| ENST00000677948.1:c.*823C>G | ENSP00000503510.1:n.*823C>G | |
| ENST00000678052.1:n.2519C>G | ||
| ENST00000678068.1:n.2869C>G | ||
| ENST00000678130.1:n.1849C>G | ||
| ENST00000678328.1:n.1863C>G | ||
| ENST00000678356.1:n.3213C>G | ||
| ENST00000678484.1:n.3633C>G | ||
| ENST00000678492.1:n.3397C>G | ||
| ENST00000678507.1:c.1138C>G | ENSP00000504199.1:p.His380Asp | |
| ENST00000678511.1:c.1138C>G | ENSP00000504846.1:p.His380Asp | |
| ENST00000678532.1:c.*823C>G | ENSP00000504682.1:n.*823C>G | |
| ENST00000678559.1:c.*932C>G | ENSP00000504285.1:n.*932C>G | |
| ENST00000678605.1:c.1138C>G | ENSP00000503969.1:p.His380Asp | |
| ENST00000678613.1:n.3397C>G | ||
| ENST00000678648.1:n.1808C>G | ||
| ENST00000678783.1:c.1063C>G | ENSP00000504215.1:p.His355Asp | |
| ENST00000678793.1:c.*461C>G | ENSP00000503431.1:n.*461C>G | |
| ENST00000678850.1:n.1498C>G | ||
| ENST00000678880.1:c.*679C>G | ENSP00000503015.1:n.*679C>G | |
| ENST00000678911.1:c.1060C>G | ENSP00000503946.1:p.His354Asp | |
| ENST00000678966.1:n.1556C>G | ||
| ENST00000678982.1:c.*809C>G | ENSP00000504597.1:n.*809C>G | |
| ENST00000679064.1:c.*3C>G | ENSP00000502868.1:n.*3C>G | |
| ENST00000679071.1:n.1670C>G | ||
| ENST00000679142.1:c.1238C>G | ENSP00000504800.1:n.1238C>G | |
| ENST00000679169.1:c.*902C>G | ENSP00000504096.1:n.*902C>G | |
| ENST00000679176.1:c.1138C>G | ENSP00000504170.1:p.His380Asp | |
| ENST00000679215.1:n.2032C>G | ||
| ENST00000679239.1:c.*513C>G | ENSP00000504555.1:n.*513C>G | |
| ENST00000679282.1:c.*3C>G | ENSP00000504533.1:n.*3C>G | |
| ENST00000367993.7:c.1138C>G | ENSP00000356972.3:p.His380Asp | |
| ENST00000392179.4:c.1138C>G | ENSP00000376018.4:p.His380Asp | |
| ENST00000465923.5:n.503C>G | ||
| ENST00000468828.5:n.245C>G | ||
| ENST00000480762.5:n.940C>G | ||
| ENST00000483804.5:n.762C>G | ||
| ENST00000492153.1:n.152C>G | ||
| ENST00000493849.5:n.188C>G | ||
| NM_001166159.1:c.1138C>G | NP_001159631.1:p.His380Asp | |
| NM_004550.4:c.1138C>G | NP_004541.1:p.His380Asp | |
| XM_005245208.1:c.1138C>G | XP_005245265.1:p.His380Asp | |
| XM_005245209.1:c.844C>G | XP_005245266.1:p.His282Asp | |
| XM_005245209.2:c.844C>G | XP_005245266.1:p.His282Asp | |
| NM_001166159.2:c.1138C>G | NP_001159631.1:p.His380Asp | |
| NM_001377298.1:c.1138C>G | NP_001364227.1:p.His380Asp | |
| NM_001377299.1:c.1138C>G MANE Select | NP_001364228.1:p.His380Asp | |
| NM_001377300.1:c.1138C>G | NP_001364229.1:p.His380Asp | |
| NM_001377301.1:c.1138C>G | NP_001364230.1:p.His380Asp | |
| NM_001377302.1:c.1138C>G | NP_001364231.1:p.His380Asp | |
| NR_165188.1:n.1027C>G | ||
| NM_004550.5:c.1138C>G | NP_004541.1:p.His380Asp |