Linked Data
ClinVar Variation Id:
282880
dbSNP Id:
rs766716563
ExAC:
X:31165595 C / T
gnomAD v2:
X-31165595-C-T
gnomAD v3:
X-31147478-C-T
gnomAD v4:
X-31147478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31147478C>T , CM000685.2:g.31147478C>T | GRCh38 |
| NC_000023.10:g.31165595C>T , CM000685.1:g.31165595C>T | GRCh37 |
| NC_000023.9:g.31075516C>T | NCBI36 |
| NG_012232.1:g.2197132G>A , LRG_199:g.2197132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5401G>A | ENSP00000350765.3:p.Glu1801Lys | |
| ENST00000680162.2:c.1285G>A | ENSP00000506634.2:p.Glu429Lys | |
| ENST00000680768.2:c.1351G>A | ENSP00000506359.2:p.Glu451Lys | |
| ENST00000681989.1:n.1392G>A | ||
| ENST00000682207.1:n.714G>A | ||
| ENST00000682238.1:c.2884G>A | ENSP00000508124.1:p.Glu962Lys | |
| ENST00000682322.1:c.1285G>A | ENSP00000507690.1:p.Glu429Lys | |
| ENST00000682600.1:c.1351G>A | ENSP00000507640.1:p.Glu451Lys | |
| ENST00000682769.1:n.1186G>A | ||
| ENST00000683503.1:n.2409G>A | ||
| ENST00000683509.1:n.2072G>A | ||
| ENST00000683675.1:n.1693G>A | ||
| ENST00000683709.1:n.2073G>A | ||
| ENST00000683957.1:n.4047G>A | ||
| ENST00000683995.1:n.739G>A | ||
| ENST00000684072.1:n.823G>A | ||
| ENST00000684103.1:n.1002G>A | ||
| ENST00000684130.1:c.3175G>A | ENSP00000508037.1:p.Glu1059Lys | |
| ENST00000684342.1:n.1638G>A | ||
| ENST00000684350.1:n.2409G>A | ||
| ENST00000343523.7:c.2449G>A | ENSP00000340057.4:p.Glu817Lys | |
| ENST00000357033.9:c.10594G>A MANE Select | ENSP00000354923.3:p.Glu3532Lys | |
| ENST00000619831.5:c.6562G>A | ENSP00000479270.2:p.Glu2188Lys | |
| ENST00000620040.5:c.3175G>A | ENSP00000478150.2:p.Glu1059Lys | |
| ENST00000679437.1:c.256G>A | ENSP00000506629.1:p.Glu86Lys | |
| ENST00000679641.1:c.*266G>A | ENSP00000506135.1:n.*266G>A | |
| ENST00000679706.1:c.221G>A | ||
| ENST00000679850.1:n.5605G>A | ||
| ENST00000680162.1:c.1267G>A | ENSP00000506634.1:p.Glu423Lys | |
| ENST00000680355.1:c.1060G>A | ENSP00000506257.1:p.Glu354Lys | |
| ENST00000680557.1:c.604-13284G>A | ENSP00000505164.1:n.604-13284G>A | |
| ENST00000680701.1:n.369G>A | ||
| ENST00000680768.1:c.1294G>A | ENSP00000506359.1:p.Glu432Lys | |
| ENST00000680961.1:c.*557G>A | ENSP00000506386.1:n.*557G>A | |
| ENST00000681026.1:c.256G>A | ENSP00000506689.1:p.Glu86Lys | |
| ENST00000681153.1:c.1351G>A | ENSP00000505124.1:p.Glu451Lys | |
| ENST00000343523.6:c.2407G>A | ENSP00000340057.3:p.Glu803Lys | |
| ENST00000357033.8:c.10594G>A | ENSP00000354923.3:p.Glu3532Lys | |
| ENST00000358062.6:c.3643G>A | ENSP00000350765.2:p.Glu1215Lys | |
| ENST00000359836.5:c.3175G>A | ENSP00000352894.1:p.Glu1059Lys | |
| ENST00000361471.8:c.1351G>A | ENSP00000354464.4:p.Glu451Lys | |
| ENST00000378677.6:c.10582G>A | ENSP00000367948.2:p.Glu3528Lys | |
| ENST00000378680.6:c.1060G>A | ENSP00000367951.2:p.Glu354Lys | |
| ENST00000378702.8:c.1390G>A | ENSP00000367974.4:p.Glu464Lys | |
| ENST00000378707.7:c.3214G>A | ENSP00000367979.3:p.Glu1072Lys | |
| ENST00000378723.7:c.1390G>A | ENSP00000367997.3:p.Glu464Lys | |
| ENST00000474231.5:c.3214G>A | ENSP00000417123.1:p.Glu1072Lys | |
| ENST00000481143.2:n.114+21965G>A | ||
| ENST00000541735.5:c.2884G>A | ENSP00000444119.1:p.Glu962Lys | |
| ENST00000619831.4:c.10579G>A | ENSP00000479270.1:p.Glu3527Lys | |
| ENST00000620040.4:c.10591G>A | ENSP00000478150.1:p.Glu3531Lys | |
| NM_000109.3:c.10570G>A | NP_000100.2:p.Glu3524Lys | |
| NM_004006.2:c.10594G>A , LRG_199t1:c.10594G>A | NP_003997.1:p.Glu3532Lys | |
| NM_004009.3:c.10582G>A | NP_004000.1:p.Glu3528Lys | |
| NM_004010.3:c.10225G>A | NP_004001.1:p.Glu3409Lys | |
| NM_004011.3:c.6571G>A | NP_004002.2:p.Glu2191Lys | |
| NM_004012.3:c.6562G>A | NP_004003.1:p.Glu2188Lys | |
| NM_004013.2:c.3214G>A | NP_004004.1:p.Glu1072Lys | |
| NM_004014.2:c.2407G>A | NP_004005.1:p.Glu803Lys | |
| NM_004015.2:c.1390G>A | NP_004006.1:p.Glu464Lys | |
| NM_004016.2:c.1390G>A | NP_004007.1:p.Glu464Lys | |
| NM_004017.2:c.1351G>A | NP_004008.1:p.Glu451Lys | |
| NM_004018.2:c.1351G>A | NP_004009.1:p.Glu451Lys | |
| NM_004020.3:c.2884G>A | NP_004011.2:p.Glu962Lys | |
| NM_004021.2:c.3214G>A | NP_004012.1:p.Glu1072Lys | |
| NM_004022.2:c.3175G>A | NP_004013.1:p.Glu1059Lys | |
| NM_004023.2:c.2884G>A | NP_004014.1:p.Glu962Lys | |
| XM_006724468.2:c.10594G>A | XP_006724531.1:p.Glu3532Lys | |
| XM_006724469.2:c.10570G>A | XP_006724532.1:p.Glu3524Lys | |
| XM_006724470.2:c.10555G>A | XP_006724533.1:p.Glu3519Lys | |
| XM_006724471.2:c.10489G>A | XP_006724534.1:p.Glu3497Lys | |
| XM_006724472.2:c.10465G>A | XP_006724535.1:p.Glu3489Lys | |
| XM_006724473.2:c.10456G>A | XP_006724536.1:p.Glu3486Lys | |
| XM_006724474.2:c.10264G>A | XP_006724537.1:p.Glu3422Lys | |
| XM_006724475.2:c.10264G>A | XP_006724538.1:p.Glu3422Lys | |
| XM_011545467.1:c.10471G>A | XP_011543769.1:p.Glu3491Lys | |
| XM_006724469.3:c.10570G>A | XP_006724532.1:p.Glu3524Lys | |
| XM_006724470.3:c.10555G>A | XP_006724533.1:p.Glu3519Lys | |
| XM_006724474.3:c.10264G>A | XP_006724537.1:p.Glu3422Lys | |
| XM_017029328.1:c.10555G>A | XP_016884817.1:p.Glu3519Lys | |
| XM_017029331.1:c.4768G>A | XP_016884820.1:p.Glu1590Lys | |
| NM_000109.4:c.10570G>A | NP_000100.3:p.Glu3524Lys | |
| NM_004006.3:c.10594G>A MANE Select | NP_003997.2:p.Glu3532Lys | |
| NM_004011.4:c.6571G>A | NP_004002.3:p.Glu2191Lys | |
| NM_004012.4:c.6562G>A | NP_004003.2:p.Glu2188Lys | |
| NM_004015.3:c.1390G>A | NP_004006.1:p.Glu464Lys | |
| NM_004016.3:c.1390G>A | NP_004007.1:p.Glu464Lys | |
| NM_004017.3:c.1351G>A | NP_004008.1:p.Glu451Lys | |
| NM_004018.3:c.1351G>A | NP_004009.1:p.Glu451Lys | |
| NM_004021.3:c.3214G>A | NP_004012.2:p.Glu1072Lys | |
| NM_004023.3:c.2884G>A | NP_004014.2:p.Glu962Lys | |
| NM_004013.3:c.3214G>A | NP_004004.2:p.Glu1072Lys | |
| NM_004014.3:c.2407G>A | NP_004005.2:p.Glu803Lys | |
| NM_004020.4:c.2884G>A | NP_004011.3:p.Glu962Lys | |
| NM_004022.3:c.3175G>A | NP_004013.2:p.Glu1059Lys |