Linked Data
ClinVar Variation Id:
94448
dbSNP Id:
rs398123847
ExAC:
X:31164466 G / A
gnomAD v2:
X-31164466-G-A
gnomAD v3:
X-31146349-G-A
gnomAD v4:
X-31146349-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31146349G>A , CM000685.2:g.31146349G>A | GRCh38 |
| NC_000023.10:g.31164466G>A , CM000685.1:g.31164466G>A | GRCh37 |
| NC_000023.9:g.31074387G>A | NCBI36 |
| NG_012232.1:g.2198261C>T , LRG_199:g.2198261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5670C>T | ENSP00000350765.3:p.Ser1890= | |
| ENST00000680162.2:c.1554C>T | ENSP00000506634.2:p.Ser518= | |
| ENST00000680768.2:c.1560C>T | ENSP00000506359.2:p.Ser520= | |
| ENST00000681989.1:n.1661C>T | ||
| ENST00000682207.1:n.983C>T | ||
| ENST00000682238.1:c.3153C>T | ENSP00000508124.1:p.Ser1051= | |
| ENST00000682322.1:c.1554C>T | ENSP00000507690.1:p.Ser518= | |
| ENST00000682600.1:c.1620C>T | ENSP00000507640.1:p.Ser540= | |
| ENST00000682746.1:n.253C>T | ||
| ENST00000682769.1:n.1455C>T | ||
| ENST00000683503.1:n.2678C>T | ||
| ENST00000683509.1:n.2341C>T | ||
| ENST00000683675.1:n.1962C>T | ||
| ENST00000683709.1:n.2342C>T | ||
| ENST00000683995.1:n.1008C>T | ||
| ENST00000684072.1:n.1092C>T | ||
| ENST00000684103.1:n.1271C>T | ||
| ENST00000684130.1:c.3444C>T | ENSP00000508037.1:p.Ser1148= | |
| ENST00000684247.1:n.335C>T | ||
| ENST00000684342.1:n.1907C>T | ||
| ENST00000684350.1:n.2678C>T | ||
| ENST00000343523.7:c.2718C>T | ENSP00000340057.4:p.Ser906= | |
| ENST00000357033.9:c.10863C>T MANE Select | ENSP00000354923.3:p.Ser3621= | |
| ENST00000619831.5:c.6831C>T | ENSP00000479270.2:p.Ser2277= | |
| ENST00000620040.5:c.3335+969C>T | ENSP00000478150.2:n.3335+969C>T | |
| ENST00000679437.1:c.525C>T | ENSP00000506629.1:p.Ser175= | |
| ENST00000679641.1:c.*535C>T | ENSP00000506135.1:n.*535C>T | |
| ENST00000679706.1:c.490C>T | ||
| ENST00000679850.1:n.5874C>T | ||
| ENST00000680162.1:c.1536C>T | ENSP00000506634.1:p.Ser512= | |
| ENST00000680355.1:c.1329C>T | ENSP00000506257.1:p.Ser443= | |
| ENST00000680557.1:c.604-12155C>T | ENSP00000505164.1:n.604-12155C>T | |
| ENST00000680701.1:n.638C>T | ||
| ENST00000680768.1:c.1563C>T | ENSP00000506359.1:p.Ser521= | |
| ENST00000680961.1:c.*826C>T | ENSP00000506386.1:n.*826C>T | |
| ENST00000681026.1:c.525C>T | ENSP00000506689.1:p.Ser175= | |
| ENST00000681153.1:c.1620C>T | ENSP00000505124.1:p.Ser540= | |
| ENST00000343523.6:c.2676C>T | ENSP00000340057.3:p.Ser892= | |
| ENST00000357033.8:c.10863C>T | ENSP00000354923.3:p.Ser3621= | |
| ENST00000358062.6:c.3912C>T | ENSP00000350765.2:p.Ser1304= | |
| ENST00000359836.5:c.3444C>T | ENSP00000352894.1:p.Ser1148= | |
| ENST00000361471.8:c.1620C>T | ENSP00000354464.4:p.Ser540= | |
| ENST00000378677.6:c.10851C>T | ENSP00000367948.2:p.Ser3617= | |
| ENST00000378680.6:c.1329C>T | ENSP00000367951.2:p.Ser443= | |
| ENST00000378702.8:c.1659C>T | ENSP00000367974.4:p.Ser553= | |
| ENST00000378707.7:c.3483C>T | ENSP00000367979.3:p.Ser1161= | |
| ENST00000378723.7:c.1659C>T | ENSP00000367997.3:p.Ser553= | |
| ENST00000474231.5:c.3483C>T | ENSP00000417123.1:p.Ser1161= | |
| ENST00000481143.2:n.114+23094C>T | ||
| ENST00000541735.5:c.3153C>T | ENSP00000444119.1:p.Ser1051= | |
| ENST00000619831.4:c.10848C>T | ENSP00000479270.1:p.Ser3616= | |
| ENST00000620040.4:c.10860C>T | ENSP00000478150.1:p.Ser3620= | |
| NM_000109.3:c.10839C>T | NP_000100.2:p.Ser3613= | |
| NM_004006.2:c.10863C>T , LRG_199t1:c.10863C>T | NP_003997.1:p.Ser3621= | |
| NM_004009.3:c.10851C>T | NP_004000.1:p.Ser3617= | |
| NM_004010.3:c.10494C>T | NP_004001.1:p.Ser3498= | |
| NM_004011.3:c.6840C>T | NP_004002.2:p.Ser2280= | |
| NM_004012.3:c.6831C>T | NP_004003.1:p.Ser2277= | |
| NM_004013.2:c.3483C>T | NP_004004.1:p.Ser1161= | |
| NM_004014.2:c.2676C>T | NP_004005.1:p.Ser892= | |
| NM_004015.2:c.1659C>T | NP_004006.1:p.Ser553= | |
| NM_004016.2:c.1659C>T | NP_004007.1:p.Ser553= | |
| NM_004017.2:c.1620C>T | NP_004008.1:p.Ser540= | |
| NM_004018.2:c.1620C>T | NP_004009.1:p.Ser540= | |
| NM_004020.3:c.3153C>T | NP_004011.2:p.Ser1051= | |
| NM_004021.2:c.3483C>T | NP_004012.1:p.Ser1161= | |
| NM_004022.2:c.3444C>T | NP_004013.1:p.Ser1148= | |
| NM_004023.2:c.3153C>T | NP_004014.1:p.Ser1051= | |
| XM_006724468.2:c.10863C>T | XP_006724531.1:p.Ser3621= | |
| XM_006724469.2:c.10839C>T | XP_006724532.1:p.Ser3613= | |
| XM_006724470.2:c.10824C>T | XP_006724533.1:p.Ser3608= | |
| XM_006724471.2:c.10758C>T | XP_006724534.1:p.Ser3586= | |
| XM_006724472.2:c.10734C>T | XP_006724535.1:p.Ser3578= | |
| XM_006724473.2:c.10725C>T | XP_006724536.1:p.Ser3575= | |
| XM_006724474.2:c.10533C>T | XP_006724537.1:p.Ser3511= | |
| XM_006724475.2:c.10533C>T | XP_006724538.1:p.Ser3511= | |
| XM_011545467.1:c.10740C>T | XP_011543769.1:p.Ser3580= | |
| XM_006724469.3:c.10839C>T | XP_006724532.1:p.Ser3613= | |
| XM_006724470.3:c.10824C>T | XP_006724533.1:p.Ser3608= | |
| XM_006724474.3:c.10533C>T | XP_006724537.1:p.Ser3511= | |
| XM_017029328.1:c.10824C>T | XP_016884817.1:p.Ser3608= | |
| XM_017029331.1:c.5037C>T | XP_016884820.1:p.Ser1679= | |
| NM_000109.4:c.10839C>T | NP_000100.3:p.Ser3613= | |
| NM_004006.3:c.10863C>T MANE Select | NP_003997.2:p.Ser3621= | |
| NM_004011.4:c.6840C>T | NP_004002.3:p.Ser2280= | |
| NM_004012.4:c.6831C>T | NP_004003.2:p.Ser2277= | |
| NM_004015.3:c.1659C>T | NP_004006.1:p.Ser553= | |
| NM_004016.3:c.1659C>T | NP_004007.1:p.Ser553= | |
| NM_004017.3:c.1620C>T | NP_004008.1:p.Ser540= | |
| NM_004018.3:c.1620C>T | NP_004009.1:p.Ser540= | |
| NM_004021.3:c.3483C>T | NP_004012.2:p.Ser1161= | |
| NM_004023.3:c.3153C>T | NP_004014.2:p.Ser1051= | |
| NM_004013.3:c.3483C>T | NP_004004.2:p.Ser1161= | |
| NM_004014.3:c.2676C>T | NP_004005.2:p.Ser892= | |
| NM_004020.4:c.3153C>T | NP_004011.3:p.Ser1051= | |
| NM_004022.3:c.3444C>T | NP_004013.2:p.Ser1148= |