Linked Data
ClinVar Variation Id:
2265692
ClinVar RCV Id:
RCV002793341
dbSNP Id:
rs1811240686
gnomAD v4:
8-41668451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41668451G>A , CM000670.2:g.41668451G>A | GRCh38 |
| NC_000008.10:g.41525969G>A , CM000670.1:g.41525969G>A | GRCh37 |
| NC_000008.9:g.41645126G>A | NCBI36 |
| NG_012820.1:g.233312C>T | |
| NG_012820.2:g.233312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265709.14:c.5333C>T | ENSP00000265709.8:p.Thr1778Ile | |
| ENST00000705521.1:c.5429C>T | ENSP00000516136.1:p.Thr1810Ile | |
| ENST00000705522.1:c.5246C>T | ENSP00000516137.1:p.Thr1749Ile | |
| ENST00000265709.13:c.5333C>T | ENSP00000265709.8:p.Thr1778Ile | |
| ENST00000289734.13:c.5210C>T MANE Select | ENSP00000289734.8:p.Thr1737Ile | |
| ENST00000645531.1:c.1224C>T | ||
| ENST00000265709.12:c.5333C>T | ENSP00000265709.8:p.Thr1778Ile | |
| ENST00000289734.11:c.5210C>T | ENSP00000289734.7:p.Thr1737Ile | |
| ENST00000347528.8:c.5210C>T | ENSP00000339620.4:p.Thr1737Ile | |
| ENST00000518061.1:c.782C>T | ||
| ENST00000520299.5:c.2688C>T | ||
| ENST00000524227.5:n.2604C>T | ||
| NM_000037.3:c.5210C>T | NP_000028.3:p.Thr1737Ile | |
| NM_001142446.1:c.5333C>T | NP_001135918.1:p.Thr1778Ile | |
| NM_020475.2:c.5210C>T | NP_065208.2:p.Thr1737Ile | |
| NM_020476.2:c.5210C>T | NP_065209.2:p.Thr1737Ile | |
| NM_020477.2:c.4724C>T | NP_065210.2:p.Thr1575Ile | |
| XM_005273476.3:c.5333C>T | XP_005273533.1:p.Thr1778Ile | |
| XM_011544490.1:c.5474C>T | XP_011542792.1:p.Thr1825Ile | |
| XM_011544491.1:c.5474C>T | XP_011542793.1:p.Thr1825Ile | |
| XM_011544492.1:c.5375C>T | XP_011542794.1:p.Thr1792Ile | |
| XM_011544493.1:c.5474C>T | XP_011542795.1:p.Thr1825Ile | |
| XM_011544494.1:c.5429C>T | XP_011542796.1:p.Thr1810Ile | |
| XM_011544495.1:c.5429C>T | XP_011542797.1:p.Thr1810Ile | |
| XM_011544496.1:c.5474C>T | XP_011542798.1:p.Thr1825Ile | |
| XM_011544497.1:c.5309C>T | XP_011542799.1:p.Thr1770Ile | |
| XM_011544498.1:c.5291C>T | XP_011542800.1:p.Thr1764Ile | |
| XM_011544499.1:c.5474C>T | XP_011542801.1:p.Thr1825Ile | |
| XM_011544500.1:c.5309C>T | XP_011542802.1:p.Thr1770Ile | |
| XM_011544501.1:c.5309C>T | XP_011542803.1:p.Thr1770Ile | |
| XM_011544502.1:c.5309C>T | XP_011542804.1:p.Thr1770Ile | |
| XM_011544503.1:c.4943C>T | XP_011542805.1:p.Thr1648Ile | |
| XM_011544504.1:c.4823C>T | XP_011542806.1:p.Thr1608Ile | |
| XM_011544505.1:c.4823C>T | XP_011542807.1:p.Thr1608Ile | |
| XM_011544506.1:c.5034C>T | XP_011542808.1:p.Tyr1678= | |
| XR_949389.1:n.5065C>T | ||
| XM_005273476.4:c.5333C>T | XP_005273533.1:p.Thr1778Ile | |
| XM_011544490.3:c.5474C>T | XP_011542792.1:p.Thr1825Ile | |
| XM_011544491.3:c.5474C>T | XP_011542793.1:p.Thr1825Ile | |
| XM_011544494.3:c.5429C>T | XP_011542796.1:p.Thr1810Ile | |
| XM_011544495.3:c.5429C>T | XP_011542797.1:p.Thr1810Ile | |
| XM_011544496.3:c.5474C>T | XP_011542798.1:p.Thr1825Ile | |
| XM_011544500.2:c.5309C>T | XP_011542802.1:p.Thr1770Ile | |
| XM_011544501.2:c.5309C>T | XP_011542803.1:p.Thr1770Ile | |
| XM_011544502.2:c.5309C>T | XP_011542804.1:p.Thr1770Ile | |
| XM_011544503.3:c.4943C>T | XP_011542805.1:p.Thr1648Ile | |
| XM_011544504.2:c.4823C>T | XP_011542806.1:p.Thr1608Ile | |
| XM_011544505.2:c.4823C>T | XP_011542807.1:p.Thr1608Ile | |
| XM_017013319.2:c.5450C>T | XP_016868808.1:p.Thr1817Ile | |
| XM_017013320.2:c.5474C>T | XP_016868809.1:p.Thr1825Ile | |
| XM_017013321.1:c.5387C>T | XP_016868810.1:p.Thr1796Ile | |
| XM_017013322.1:c.5378C>T | XP_016868811.1:p.Thr1793Ile | |
| XM_017013323.1:c.5375C>T | XP_016868812.1:p.Thr1792Ile | |
| XM_017013324.1:c.5333C>T | XP_016868813.1:p.Thr1778Ile | |
| XM_017013325.1:c.5291C>T | XP_016868814.1:p.Thr1764Ile | |
| XM_017013326.1:c.5246C>T | XP_016868815.1:p.Thr1749Ile | |
| XM_017013327.2:c.4988C>T | XP_016868816.1:p.Thr1663Ile | |
| XM_017013328.2:c.4943C>T | XP_016868817.1:p.Thr1648Ile | |
| XM_017013329.1:c.4847C>T | XP_016868818.1:p.Thr1616Ile | |
| XM_024447128.1:c.5279C>T | XP_024302896.1:p.Thr1760Ile | |
| NM_000037.4:c.5210C>T MANE Select | NP_000028.3:p.Thr1737Ile | |
| NM_001142446.2:c.5333C>T | NP_001135918.1:p.Thr1778Ile | |
| NM_020475.3:c.5210C>T | NP_065208.2:p.Thr1737Ile | |
| NM_020476.3:c.5210C>T | NP_065209.2:p.Thr1737Ile | |
| NM_020477.3:c.4724C>T | NP_065210.2:p.Thr1575Ile |