Linked Data
ClinVar Variation Id:
362981
dbSNP Id:
rs147232364
ExAC:
8:41525803 G / A
gnomAD v2:
8-41525803-G-A
gnomAD v3:
8-41668285-G-A
gnomAD v4:
8-41668285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41668285G>A , CM000670.2:g.41668285G>A | GRCh38 |
| NC_000008.10:g.41525803G>A , CM000670.1:g.41525803G>A | GRCh37 |
| NC_000008.9:g.41644960G>A | NCBI36 |
| NG_012820.1:g.233478C>T | |
| NG_012820.2:g.233478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265709.14:c.5499C>T | ENSP00000265709.8:p.Thr1833= | |
| ENST00000705521.1:c.5595C>T | ENSP00000516136.1:p.Thr1865= | |
| ENST00000705522.1:c.5412C>T | ENSP00000516137.1:p.Thr1804= | |
| ENST00000265709.13:c.5499C>T | ENSP00000265709.8:p.Thr1833= | |
| ENST00000289734.13:c.5376C>T MANE Select | ENSP00000289734.8:p.Thr1792= | |
| ENST00000645531.1:c.1390C>T | ||
| ENST00000265709.12:c.5499C>T | ENSP00000265709.8:p.Thr1833= | |
| ENST00000289734.11:c.5376C>T | ENSP00000289734.7:p.Thr1792= | |
| ENST00000347528.8:c.5376C>T | ENSP00000339620.4:p.Thr1792= | |
| ENST00000520299.5:c.2854C>T | ||
| ENST00000524227.5:n.2770C>T | ||
| NM_000037.3:c.5376C>T | NP_000028.3:p.Thr1792= | |
| NM_001142446.1:c.5499C>T | NP_001135918.1:p.Thr1833= | |
| NM_020475.2:c.5376C>T | NP_065208.2:p.Thr1792= | |
| NM_020476.2:c.5376C>T | NP_065209.2:p.Thr1792= | |
| NM_020477.2:c.4890C>T | NP_065210.2:p.Thr1630= | |
| XM_005273476.3:c.5499C>T | XP_005273533.1:p.Thr1833= | |
| XM_011544490.1:c.5640C>T | XP_011542792.1:p.Thr1880= | |
| XM_011544491.1:c.5640C>T | XP_011542793.1:p.Thr1880= | |
| XM_011544492.1:c.5541C>T | XP_011542794.1:p.Thr1847= | |
| XM_011544493.1:c.5640C>T | XP_011542795.1:p.Thr1880= | |
| XM_011544494.1:c.5595C>T | XP_011542796.1:p.Thr1865= | |
| XM_011544495.1:c.5595C>T | XP_011542797.1:p.Thr1865= | |
| XM_011544496.1:c.5640C>T | XP_011542798.1:p.Thr1880= | |
| XM_011544497.1:c.5475C>T | XP_011542799.1:p.Thr1825= | |
| XM_011544498.1:c.5457C>T | XP_011542800.1:p.Thr1819= | |
| XM_011544499.1:c.5640C>T | XP_011542801.1:p.Thr1880= | |
| XM_011544500.1:c.5475C>T | XP_011542802.1:p.Thr1825= | |
| XM_011544501.1:c.5475C>T | XP_011542803.1:p.Thr1825= | |
| XM_011544502.1:c.5475C>T | XP_011542804.1:p.Thr1825= | |
| XM_011544503.1:c.5109C>T | XP_011542805.1:p.Thr1703= | |
| XM_011544504.1:c.4989C>T | XP_011542806.1:p.Thr1663= | |
| XM_011544505.1:c.4989C>T | XP_011542807.1:p.Thr1663= | |
| XR_949389.1:n.5231C>T | ||
| XM_005273476.4:c.5499C>T | XP_005273533.1:p.Thr1833= | |
| XM_011544490.3:c.5640C>T | XP_011542792.1:p.Thr1880= | |
| XM_011544491.3:c.5640C>T | XP_011542793.1:p.Thr1880= | |
| XM_011544494.3:c.5595C>T | XP_011542796.1:p.Thr1865= | |
| XM_011544495.3:c.5595C>T | XP_011542797.1:p.Thr1865= | |
| XM_011544496.3:c.5640C>T | XP_011542798.1:p.Thr1880= | |
| XM_011544500.2:c.5475C>T | XP_011542802.1:p.Thr1825= | |
| XM_011544501.2:c.5475C>T | XP_011542803.1:p.Thr1825= | |
| XM_011544502.2:c.5475C>T | XP_011542804.1:p.Thr1825= | |
| XM_011544503.3:c.5109C>T | XP_011542805.1:p.Thr1703= | |
| XM_011544504.2:c.4989C>T | XP_011542806.1:p.Thr1663= | |
| XM_011544505.2:c.4989C>T | XP_011542807.1:p.Thr1663= | |
| XM_017013319.2:c.5616C>T | XP_016868808.1:p.Thr1872= | |
| XM_017013320.2:c.5640C>T | XP_016868809.1:p.Thr1880= | |
| XM_017013321.1:c.5553C>T | XP_016868810.1:p.Thr1851= | |
| XM_017013322.1:c.5544C>T | XP_016868811.1:p.Thr1848= | |
| XM_017013323.1:c.5541C>T | XP_016868812.1:p.Thr1847= | |
| XM_017013324.1:c.5499C>T | XP_016868813.1:p.Thr1833= | |
| XM_017013325.1:c.5457C>T | XP_016868814.1:p.Thr1819= | |
| XM_017013326.1:c.5412C>T | XP_016868815.1:p.Thr1804= | |
| XM_017013327.2:c.5154C>T | XP_016868816.1:p.Thr1718= | |
| XM_017013328.2:c.5109C>T | XP_016868817.1:p.Thr1703= | |
| XM_017013329.1:c.5013C>T | XP_016868818.1:p.Thr1671= | |
| XM_024447128.1:c.5445C>T | XP_024302896.1:p.Thr1815= | |
| NM_000037.4:c.5376C>T MANE Select | NP_000028.3:p.Thr1792= | |
| NM_001142446.2:c.5499C>T | NP_001135918.1:p.Thr1833= | |
| NM_020475.3:c.5376C>T | NP_065208.2:p.Thr1792= | |
| NM_020476.3:c.5376C>T | NP_065209.2:p.Thr1792= | |
| NM_020477.3:c.4890C>T | NP_065210.2:p.Thr1630= |