Linked Data
ClinVar Variation Id:
289325
dbSNP Id:
rs150444975
ExAC:
10:100190396 G / A
gnomAD v2:
10-100190396-G-A
gnomAD v3:
10-98430639-G-A
gnomAD v4:
10-98430639-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98430639G>A , CM000672.2:g.98430639G>A | GRCh38 |
| NC_000010.10:g.100190396G>A , CM000672.1:g.100190396G>A | GRCh37 |
| NC_000010.9:g.100180386G>A | NCBI36 |
| NG_009646.1:g.21309C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414009.2:c.700C>T | ENSP00000392462.2:p.Leu234= | |
| ENST00000699112.1:c.439C>T | ENSP00000514137.1:p.Leu147= | |
| ENST00000699113.1:c.*177C>T | ENSP00000514138.1:n.*177C>T | |
| ENST00000699114.1:n.686C>T | ||
| ENST00000699115.1:c.700C>T | ENSP00000514139.1:p.Leu234= | |
| ENST00000699116.1:n.601C>T | ||
| ENST00000699117.1:n.1451C>T | ||
| ENST00000699118.1:c.550+3301C>T | ENSP00000514140.1:n.550+3301C>T | |
| ENST00000699119.1:c.*158C>T | ENSP00000514141.1:n.*158C>T | |
| ENST00000699120.1:c.*158C>T | ENSP00000514142.1:n.*158C>T | |
| ENST00000699121.1:c.*158C>T | ENSP00000514143.1:n.*158C>T | |
| ENST00000699122.1:c.364+3344C>T | ENSP00000514144.1:n.364+3344C>T | |
| ENST00000699123.1:c.*468C>T | ENSP00000514145.1:n.*468C>T | |
| ENST00000699124.1:n.790C>T | ||
| ENST00000699125.1:c.582C>T | ENSP00000514146.1:p.Thr194= | |
| ENST00000699126.1:n.943C>T | ||
| ENST00000699127.1:n.943C>T | ||
| ENST00000699128.1:c.700C>T | ENSP00000514147.1:p.Leu234= | |
| ENST00000699129.1:c.700C>T | ENSP00000514148.1:p.Leu234= | |
| ENST00000699130.1:n.943C>T | ||
| ENST00000699131.1:c.700C>T | ENSP00000514149.1:p.Leu234= | |
| ENST00000699132.1:n.2166C>T | ||
| ENST00000699133.1:c.700C>T | ENSP00000514150.1:p.Leu234= | |
| ENST00000699134.1:c.810C>T | ENSP00000514151.1:p.Thr270= | |
| ENST00000699135.1:c.*177C>T | ENSP00000514152.1:n.*177C>T | |
| ENST00000699136.1:c.700C>T | ENSP00000514153.1:p.Leu234= | |
| ENST00000699137.1:c.550+3301C>T | ENSP00000514154.1:n.550+3301C>T | |
| ENST00000699138.1:c.*158C>T | ENSP00000514155.1:n.*158C>T | |
| ENST00000699139.1:c.439C>T | ENSP00000514156.1:p.Leu147= | |
| ENST00000699140.1:c.700C>T | ENSP00000514157.1:p.Leu234= | |
| ENST00000699141.1:c.*158C>T | ENSP00000514158.1:n.*158C>T | |
| ENST00000699142.1:c.700C>T | ENSP00000514159.1:p.Leu234= | |
| ENST00000699143.1:c.*158C>T | ENSP00000514160.1:n.*158C>T | |
| ENST00000699144.1:c.*158C>T | ENSP00000514161.1:n.*158C>T | |
| ENST00000699145.1:c.700C>T | ENSP00000514162.1:p.Leu234= | |
| ENST00000699146.1:c.700C>T | ENSP00000514164.1:p.Leu234= | |
| ENST00000699147.1:c.*158C>T | ENSP00000514165.1:n.*158C>T | |
| ENST00000699149.1:n.943C>T | ||
| ENST00000699150.1:n.782C>T | ||
| ENST00000699151.1:n.2166C>T | ||
| ENST00000699152.1:n.2368C>T | ||
| ENST00000699153.1:c.*158C>T | ENSP00000514166.1:n.*158C>T | |
| ENST00000699154.1:n.1078C>T | ||
| ENST00000699159.1:c.*158C>T | ENSP00000514167.1:n.*158C>T | |
| ENST00000361490.9:c.700C>T MANE Select | ENSP00000355310.4:p.Leu234= | |
| ENST00000325103.10:c.700C>T | ENSP00000326649.6:p.Leu234= | |
| ENST00000338546.9:c.700C>T | ENSP00000343638.5:p.Leu234= | |
| ENST00000359632.7:c.184C>T | ENSP00000352652.3:p.Leu62= | |
| ENST00000361490.8:c.700C>T | ENSP00000355310.4:p.Leu234= | |
| ENST00000414009.1:c.302C>T | ||
| ENST00000467246.5:n.938C>T | ||
| ENST00000470095.5:n.184C>T | ||
| ENST00000478087.5:n.345C>T | ||
| ENST00000480020.5:n.727C>T | ||
| ENST00000498219.5:n.577C>T | ||
| ENST00000613394.4:c.700C>T | ENSP00000477926.1:p.Leu234= | |
| NM_000195.3:c.700C>T | NP_000186.2:p.Leu234= | |
| NM_000195.4:c.700C>T | NP_000186.2:p.Leu234= | |
| NM_001311345.1:c.-174C>T | NP_001298274.1:n.-174C>T | |
| NM_182639.2:c.700C>T | NP_872577.1:p.Leu234= | |
| NM_182639.3:c.700C>T | NP_872577.1:p.Leu234= | |
| XM_005269755.2:c.700C>T | XP_005269812.1:p.Leu234= | |
| XM_005269756.2:c.700C>T | XP_005269813.1:p.Leu234= | |
| XM_005269757.3:c.700C>T | XP_005269814.1:p.Leu234= | |
| XM_005269758.1:c.700C>T | XP_005269815.1:p.Leu234= | |
| XM_005269759.1:c.331C>T | XP_005269816.1:p.Leu111= | |
| XM_005269760.3:c.-174C>T | XP_005269817.1:n.-174C>T | |
| XM_005269761.1:c.-174C>T | XP_005269818.1:n.-174C>T | |
| XM_006717818.1:c.439C>T | XP_006717881.1:p.Leu147= | |
| NM_001322476.1:c.700C>T | NP_001309405.1:p.Leu234= | |
| NM_001322477.1:c.700C>T | NP_001309406.1:p.Leu234= | |
| NM_001322478.1:c.700C>T | NP_001309407.1:p.Leu234= | |
| NM_001322479.1:c.700C>T | NP_001309408.1:p.Leu234= | |
| NM_001322480.1:c.439C>T | NP_001309409.1:p.Leu147= | |
| NM_001322481.1:c.439C>T | NP_001309410.1:p.Leu147= | |
| NM_001322482.1:c.439C>T | NP_001309411.1:p.Leu147= | |
| NM_001322483.1:c.331C>T | NP_001309412.1:p.Leu111= | |
| NM_001322484.1:c.331C>T | NP_001309413.1:p.Leu111= | |
| NM_001322485.1:c.331C>T | NP_001309414.1:p.Leu111= | |
| NM_001322487.1:c.-273C>T | NP_001309416.1:n.-273C>T | |
| NM_001322489.1:c.-174C>T | NP_001309418.1:n.-174C>T | |
| NM_001322490.1:c.582C>T | NP_001309419.1:p.Thr194= | |
| NM_001322491.1:c.700C>T | NP_001309420.1:p.Leu234= | |
| NM_001322492.1:c.582C>T | NP_001309421.1:p.Thr194= | |
| XM_005269757.4:c.700C>T | XP_005269814.1:p.Leu234= | |
| XM_017016170.1:c.439C>T | XP_016871659.1:p.Leu147= | |
| XM_017016171.2:c.331C>T | XP_016871660.1:p.Leu111= | |
| XM_017016172.2:c.-174C>T | XP_016871661.1:n.-174C>T | |
| XM_017016173.1:c.582C>T | XP_016871662.1:p.Thr194= | |
| XM_024447971.1:c.582C>T | XP_024303739.1:p.Thr194= | |
| XM_024447972.1:c.-273C>T | XP_024303740.1:n.-273C>T | |
| XR_001747098.1:n.969C>T | ||
| XR_001747099.2:n.969C>T | ||
| XR_001747100.2:n.969C>T | ||
| XR_001747101.2:n.969C>T | ||
| NM_000195.5:c.700C>T MANE Select | NP_000186.2:p.Leu234= | |
| NM_001311345.2:c.-174C>T | NP_001298274.1:n.-174C>T | |
| NM_001322476.2:c.700C>T | NP_001309405.1:p.Leu234= | |
| NM_001322477.2:c.700C>T | NP_001309406.1:p.Leu234= | |
| NM_001322478.2:c.700C>T | NP_001309407.1:p.Leu234= | |
| NM_001322479.2:c.700C>T | NP_001309408.1:p.Leu234= | |
| NM_001322480.2:c.439C>T | NP_001309409.1:p.Leu147= | |
| NM_001322481.2:c.439C>T | NP_001309410.1:p.Leu147= | |
| NM_001322482.2:c.439C>T | NP_001309411.1:p.Leu147= | |
| NM_001322483.2:c.331C>T | NP_001309412.1:p.Leu111= | |
| NM_001322484.2:c.331C>T | NP_001309413.1:p.Leu111= | |
| NM_001322485.2:c.331C>T | NP_001309414.1:p.Leu111= | |
| NM_001322487.2:c.-273C>T | NP_001309416.1:n.-273C>T | |
| NM_001322489.2:c.-174C>T | NP_001309418.1:n.-174C>T | |
| NM_001322490.2:c.582C>T | NP_001309419.1:p.Thr194= | |
| NM_001322491.2:c.700C>T | NP_001309420.1:p.Leu234= | |
| NM_001322492.2:c.582C>T | NP_001309421.1:p.Thr194= | |
| NM_182639.4:c.700C>T | NP_872577.1:p.Leu234= |