Linked Data
ClinVar Variation Id:
409895
dbSNP Id:
rs768532317
ExAC:
X:31152258 C / T
gnomAD v2:
X-31152258-C-T
gnomAD v4:
X-31134141-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31134141C>T , CM000685.2:g.31134141C>T | GRCh38 |
| NC_000023.10:g.31152258C>T , CM000685.1:g.31152258C>T | GRCh37 |
| NC_000023.9:g.31062179C>T | NCBI36 |
| NG_012232.1:g.2210469G>A , LRG_199:g.2210469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5782G>A | ENSP00000350765.3:p.Val1928Met | |
| ENST00000680162.2:c.1666G>A | ENSP00000506634.2:p.Val556Met | |
| ENST00000680768.2:c.1672G>A | ENSP00000506359.2:p.Val558Met | |
| ENST00000681989.1:n.1773G>A | ||
| ENST00000682207.1:n.1095G>A | ||
| ENST00000682238.1:c.3265G>A | ENSP00000508124.1:p.Val1089Met | |
| ENST00000682322.1:c.1666G>A | ENSP00000507690.1:p.Val556Met | |
| ENST00000682600.1:c.1732G>A | ENSP00000507640.1:p.Val578Met | |
| ENST00000682746.1:n.365G>A | ||
| ENST00000682769.1:n.1567G>A | ||
| ENST00000683503.1:n.2790G>A | ||
| ENST00000683509.1:n.2453G>A | ||
| ENST00000683675.1:n.2074G>A | ||
| ENST00000683709.1:n.2454G>A | ||
| ENST00000683995.1:n.1120G>A | ||
| ENST00000684072.1:n.1204G>A | ||
| ENST00000684103.1:n.1383G>A | ||
| ENST00000684130.1:c.3556G>A | ENSP00000508037.1:p.Val1186Met | |
| ENST00000684247.1:n.447G>A | ||
| ENST00000684342.1:n.2019G>A | ||
| ENST00000684350.1:n.2790G>A | ||
| ENST00000343523.7:c.2830G>A | ENSP00000340057.4:p.Val944Met | |
| ENST00000357033.9:c.10975G>A MANE Select | ENSP00000354923.3:p.Val3659Met | |
| ENST00000619831.5:c.6943G>A | ENSP00000479270.2:p.Val2315Met | |
| ENST00000620040.5:c.3336-7468G>A | ENSP00000478150.2:n.3336-7468G>A | |
| ENST00000679437.1:c.637G>A | ENSP00000506629.1:p.Val213Met | |
| ENST00000679482.1:n.549G>A | ||
| ENST00000679641.1:c.*647G>A | ENSP00000506135.1:n.*647G>A | |
| ENST00000679706.1:c.689G>A | ||
| ENST00000679850.1:n.5986G>A | ||
| ENST00000680162.1:c.1648G>A | ENSP00000506634.1:p.Val550Met | |
| ENST00000680355.1:c.1441G>A | ENSP00000506257.1:p.Val481Met | |
| ENST00000680557.1:c.*6G>A | ENSP00000505164.1:n.*6G>A | |
| ENST00000680701.1:n.750G>A | ||
| ENST00000680768.1:c.1675G>A | ENSP00000506359.1:p.Val559Met | |
| ENST00000680961.1:c.*938G>A | ENSP00000506386.1:n.*938G>A | |
| ENST00000681026.1:c.637G>A | ENSP00000506689.1:p.Val213Met | |
| ENST00000681153.1:c.1732G>A | ENSP00000505124.1:p.Val578Met | |
| ENST00000343523.6:c.2788G>A | ENSP00000340057.3:p.Val930Met | |
| ENST00000357033.8:c.10975G>A | ENSP00000354923.3:p.Val3659Met | |
| ENST00000358062.6:c.4024G>A | ENSP00000350765.2:p.Val1342Met | |
| ENST00000359836.5:c.3556G>A | ENSP00000352894.1:p.Val1186Met | |
| ENST00000361471.8:c.1732G>A | ENSP00000354464.4:p.Val578Met | |
| ENST00000378677.6:c.10963G>A | ENSP00000367948.2:p.Val3655Met | |
| ENST00000378680.6:c.1441G>A | ENSP00000367951.2:p.Val481Met | |
| ENST00000378702.8:c.1771G>A | ENSP00000367974.4:p.Val591Met | |
| ENST00000378707.7:c.3595G>A | ENSP00000367979.3:p.Val1199Met | |
| ENST00000378723.7:c.1771G>A | ENSP00000367997.3:p.Val591Met | |
| ENST00000474231.5:c.3595G>A | ENSP00000417123.1:p.Val1199Met | |
| ENST00000481143.2:n.114+35302G>A | ||
| ENST00000541735.5:c.3265G>A | ENSP00000444119.1:p.Val1089Met | |
| ENST00000619831.4:c.10960G>A | ENSP00000479270.1:p.Val3654Met | |
| ENST00000620040.4:c.10972G>A | ENSP00000478150.1:p.Val3658Met | |
| NM_000109.3:c.10951G>A | NP_000100.2:p.Val3651Met | |
| NM_004006.2:c.10975G>A , LRG_199t1:c.10975G>A | NP_003997.1:p.Val3659Met | |
| NM_004009.3:c.10963G>A | NP_004000.1:p.Val3655Met | |
| NM_004010.3:c.10606G>A | NP_004001.1:p.Val3536Met | |
| NM_004011.3:c.6952G>A | NP_004002.2:p.Val2318Met | |
| NM_004012.3:c.6943G>A | NP_004003.1:p.Val2315Met | |
| NM_004013.2:c.3595G>A | NP_004004.1:p.Val1199Met | |
| NM_004014.2:c.2788G>A | NP_004005.1:p.Val930Met | |
| NM_004015.2:c.1771G>A | NP_004006.1:p.Val591Met | |
| NM_004016.2:c.1771G>A | NP_004007.1:p.Val591Met | |
| NM_004017.2:c.1732G>A | NP_004008.1:p.Val578Met | |
| NM_004018.2:c.1732G>A | NP_004009.1:p.Val578Met | |
| NM_004020.3:c.3265G>A | NP_004011.2:p.Val1089Met | |
| NM_004021.2:c.3595G>A | NP_004012.1:p.Val1199Met | |
| NM_004022.2:c.3556G>A | NP_004013.1:p.Val1186Met | |
| NM_004023.2:c.3265G>A | NP_004014.1:p.Val1089Met | |
| XM_006724468.2:c.10975G>A | XP_006724531.1:p.Val3659Met | |
| XM_006724469.2:c.10951G>A | XP_006724532.1:p.Val3651Met | |
| XM_006724470.2:c.10936G>A | XP_006724533.1:p.Val3646Met | |
| XM_006724471.2:c.10870G>A | XP_006724534.1:p.Val3624Met | |
| XM_006724472.2:c.10846G>A | XP_006724535.1:p.Val3616Met | |
| XM_006724473.2:c.10837G>A | XP_006724536.1:p.Val3613Met | |
| XM_006724474.2:c.10645G>A | XP_006724537.1:p.Val3549Met | |
| XM_006724475.2:c.10645G>A | XP_006724538.1:p.Val3549Met | |
| XM_011545467.1:c.10852G>A | XP_011543769.1:p.Val3618Met | |
| XM_006724469.3:c.10951G>A | XP_006724532.1:p.Val3651Met | |
| XM_006724470.3:c.10936G>A | XP_006724533.1:p.Val3646Met | |
| XM_006724474.3:c.10645G>A | XP_006724537.1:p.Val3549Met | |
| XM_017029328.1:c.10936G>A | XP_016884817.1:p.Val3646Met | |
| XM_017029331.1:c.5149G>A | XP_016884820.1:p.Val1717Met | |
| NM_000109.4:c.10951G>A | NP_000100.3:p.Val3651Met | |
| NM_004006.3:c.10975G>A MANE Select | NP_003997.2:p.Val3659Met | |
| NM_004011.4:c.6952G>A | NP_004002.3:p.Val2318Met | |
| NM_004012.4:c.6943G>A | NP_004003.2:p.Val2315Met | |
| NM_004015.3:c.1771G>A | NP_004006.1:p.Val591Met | |
| NM_004016.3:c.1771G>A | NP_004007.1:p.Val591Met | |
| NM_004017.3:c.1732G>A | NP_004008.1:p.Val578Met | |
| NM_004018.3:c.1732G>A | NP_004009.1:p.Val578Met | |
| NM_004021.3:c.3595G>A | NP_004012.2:p.Val1199Met | |
| NM_004023.3:c.3265G>A | NP_004014.2:p.Val1089Met | |
| NM_004013.3:c.3595G>A | NP_004004.2:p.Val1199Met | |
| NM_004014.3:c.2788G>A | NP_004005.2:p.Val930Met | |
| NM_004020.4:c.3265G>A | NP_004011.3:p.Val1089Met | |
| NM_004022.3:c.3556G>A | NP_004013.2:p.Val1186Met |