Linked Data
ClinVar Variation Id:
518985
dbSNP Id:
rs1348920866
gnomAD v2:
X-31200898-C-T
gnomAD v4:
X-31182781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31182781C>T , CM000685.2:g.31182781C>T | GRCh38 |
| NC_000023.10:g.31200898C>T , CM000685.1:g.31200898C>T | GRCh37 |
| NC_000023.9:g.31110819C>T | NCBI36 |
| NG_012232.1:g.2161829G>A , LRG_199:g.2161829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.4777G>A | ENSP00000350765.3:p.Ala1593Thr | |
| ENST00000475732.3:n.22G>A | ||
| ENST00000680162.2:c.727G>A | ENSP00000506634.2:p.Ala243Thr | |
| ENST00000680768.2:c.727G>A | ENSP00000506359.2:p.Ala243Thr | |
| ENST00000681989.1:n.729G>A | ||
| ENST00000682238.1:c.2551G>A | ENSP00000508124.1:p.Ala851Thr | |
| ENST00000682322.1:c.727G>A | ENSP00000507690.1:p.Ala243Thr | |
| ENST00000682600.1:c.727G>A | ENSP00000507640.1:p.Ala243Thr | |
| ENST00000682769.1:n.606-2300G>A | ||
| ENST00000683509.1:n.1448G>A | ||
| ENST00000683675.1:n.1030G>A | ||
| ENST00000683709.1:n.1449G>A | ||
| ENST00000683957.1:n.3423G>A | ||
| ENST00000684130.1:c.2551G>A | ENSP00000508037.1:p.Ala851Thr | |
| ENST00000343523.7:c.1786G>A | ENSP00000340057.4:p.Ala596Thr | |
| ENST00000357033.9:c.9931G>A MANE Select | ENSP00000354923.3:p.Ala3311Thr | |
| ENST00000475732.2:n.297G>A | ||
| ENST00000619831.5:c.5899G>A | ENSP00000479270.2:p.Ala1967Thr | |
| ENST00000620040.5:c.2551G>A | ENSP00000478150.2:p.Ala851Thr | |
| ENST00000679641.1:c.604-2300G>A | ENSP00000506135.1:n.604-2300G>A | |
| ENST00000680162.1:c.604G>A | ENSP00000506634.1:p.Ala202Thr | |
| ENST00000680355.1:c.727G>A | ENSP00000506257.1:p.Ala243Thr | |
| ENST00000680557.1:c.603+21180G>A | ENSP00000505164.1:n.603+21180G>A | |
| ENST00000680768.1:c.670G>A | ENSP00000506359.1:p.Ala224Thr | |
| ENST00000680961.1:c.2428-2300G>A | ENSP00000506386.1:n.2428-2300G>A | |
| ENST00000681153.1:c.727G>A | ENSP00000505124.1:p.Ala243Thr | |
| ENST00000681654.1:n.861G>A | ||
| ENST00000343523.6:c.1744G>A | ENSP00000340057.3:p.Ala582Thr | |
| ENST00000357033.8:c.9931G>A | ENSP00000354923.3:p.Ala3311Thr | |
| ENST00000358062.6:c.3019G>A | ENSP00000350765.2:p.Ala1007Thr | |
| ENST00000359836.5:c.2551G>A | ENSP00000352894.1:p.Ala851Thr | |
| ENST00000361471.8:c.727G>A | ENSP00000354464.4:p.Ala243Thr | |
| ENST00000378677.6:c.9919G>A | ENSP00000367948.2:p.Ala3307Thr | |
| ENST00000378680.6:c.727G>A | ENSP00000367951.2:p.Ala243Thr | |
| ENST00000378702.8:c.727G>A | ENSP00000367974.4:p.Ala243Thr | |
| ENST00000378705.3:c.301G>A | ENSP00000367977.3:p.Ala101Thr | |
| ENST00000378707.7:c.2551G>A | ENSP00000367979.3:p.Ala851Thr | |
| ENST00000378723.7:c.727G>A | ENSP00000367997.3:p.Ala243Thr | |
| ENST00000474231.5:c.2551G>A | ENSP00000417123.1:p.Ala851Thr | |
| ENST00000475732.1:n.147G>A | ||
| ENST00000541735.5:c.2551G>A | ENSP00000444119.1:p.Ala851Thr | |
| ENST00000619831.4:c.9916G>A | ENSP00000479270.1:p.Ala3306Thr | |
| ENST00000620040.4:c.9928G>A | ENSP00000478150.1:p.Ala3310Thr | |
| NM_000109.3:c.9907G>A | NP_000100.2:p.Ala3303Thr | |
| NM_004006.2:c.9931G>A , LRG_199t1:c.9931G>A | NP_003997.1:p.Ala3311Thr | |
| NM_004009.3:c.9919G>A | NP_004000.1:p.Ala3307Thr | |
| NM_004010.3:c.9562G>A | NP_004001.1:p.Ala3188Thr | |
| NM_004011.3:c.5908G>A | NP_004002.2:p.Ala1970Thr | |
| NM_004012.3:c.5899G>A | NP_004003.1:p.Ala1967Thr | |
| NM_004013.2:c.2551G>A | NP_004004.1:p.Ala851Thr | |
| NM_004014.2:c.1744G>A | NP_004005.1:p.Ala582Thr | |
| NM_004015.2:c.727G>A | NP_004006.1:p.Ala243Thr | |
| NM_004016.2:c.727G>A | NP_004007.1:p.Ala243Thr | |
| NM_004017.2:c.727G>A | NP_004008.1:p.Ala243Thr | |
| NM_004018.2:c.727G>A | NP_004009.1:p.Ala243Thr | |
| NM_004019.2:c.727G>A | NP_004010.1:p.Ala243Thr | |
| NM_004020.3:c.2551G>A | NP_004011.2:p.Ala851Thr | |
| NM_004021.2:c.2551G>A | NP_004012.1:p.Ala851Thr | |
| NM_004022.2:c.2551G>A | NP_004013.1:p.Ala851Thr | |
| NM_004023.2:c.2551G>A | NP_004014.1:p.Ala851Thr | |
| XM_006724468.2:c.9931G>A | XP_006724531.1:p.Ala3311Thr | |
| XM_006724469.2:c.9907G>A | XP_006724532.1:p.Ala3303Thr | |
| XM_006724470.2:c.9931G>A | XP_006724533.1:p.Ala3311Thr | |
| XM_006724471.2:c.9931G>A | XP_006724534.1:p.Ala3311Thr | |
| XM_006724472.2:c.9802G>A | XP_006724535.1:p.Ala3268Thr | |
| XM_006724473.2:c.9793G>A | XP_006724536.1:p.Ala3265Thr | |
| XM_006724474.2:c.9931G>A | XP_006724537.1:p.Ala3311Thr | |
| XM_006724475.2:c.9931G>A | XP_006724538.1:p.Ala3311Thr | |
| XM_011545467.1:c.9808G>A | XP_011543769.1:p.Ala3270Thr | |
| XM_006724469.3:c.9907G>A | XP_006724532.1:p.Ala3303Thr | |
| XM_006724470.3:c.9931G>A | XP_006724533.1:p.Ala3311Thr | |
| XM_006724474.3:c.9931G>A | XP_006724537.1:p.Ala3311Thr | |
| XM_017029328.1:c.9931G>A | XP_016884817.1:p.Ala3311Thr | |
| XM_017029331.1:c.4105G>A | XP_016884820.1:p.Ala1369Thr | |
| NM_000109.4:c.9907G>A | NP_000100.3:p.Ala3303Thr | |
| NM_004006.3:c.9931G>A MANE Select | NP_003997.2:p.Ala3311Thr | |
| NM_004011.4:c.5908G>A | NP_004002.3:p.Ala1970Thr | |
| NM_004012.4:c.5899G>A | NP_004003.2:p.Ala1967Thr | |
| NM_004015.3:c.727G>A | NP_004006.1:p.Ala243Thr | |
| NM_004016.3:c.727G>A | NP_004007.1:p.Ala243Thr | |
| NM_004017.3:c.727G>A | NP_004008.1:p.Ala243Thr | |
| NM_004018.3:c.727G>A | NP_004009.1:p.Ala243Thr | |
| NM_004019.3:c.727G>A | NP_004010.1:p.Ala243Thr | |
| NM_004021.3:c.2551G>A | NP_004012.2:p.Ala851Thr | |
| NM_004023.3:c.2551G>A | NP_004014.2:p.Ala851Thr | |
| NM_004013.3:c.2551G>A | NP_004004.2:p.Ala851Thr | |
| NM_004014.3:c.1744G>A | NP_004005.2:p.Ala582Thr | |
| NM_004020.4:c.2551G>A | NP_004011.3:p.Ala851Thr | |
| NM_004022.3:c.2551G>A | NP_004013.2:p.Ala851Thr |