Linked Data
ClinVar Variation Id:
290290
dbSNP Id:
rs771240938
ExAC:
X:31187648 G / A
gnomAD v2:
X-31187648-G-A
gnomAD v4:
X-31169531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31169531G>A , CM000685.2:g.31169531G>A | GRCh38 |
| NC_000023.10:g.31187648G>A , CM000685.1:g.31187648G>A | GRCh37 |
| NC_000023.9:g.31097569G>A | NCBI36 |
| NG_012232.1:g.2175079C>T , LRG_199:g.2175079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5272C>T | ENSP00000350765.3:p.Arg1758Cys | |
| ENST00000680162.2:c.1156C>T | ENSP00000506634.2:p.Arg386Cys | |
| ENST00000680768.2:c.1222C>T | ENSP00000506359.2:p.Arg408Cys | |
| ENST00000681989.1:n.1263C>T | ||
| ENST00000682207.1:n.585C>T | ||
| ENST00000682238.1:c.2843+9138C>T | ENSP00000508124.1:n.2843+9138C>T | |
| ENST00000682322.1:c.1156C>T | ENSP00000507690.1:p.Arg386Cys | |
| ENST00000682600.1:c.1222C>T | ENSP00000507640.1:p.Arg408Cys | |
| ENST00000682769.1:n.1057C>T | ||
| ENST00000683503.1:n.2280C>T | ||
| ENST00000683509.1:n.1943C>T | ||
| ENST00000683675.1:n.1564C>T | ||
| ENST00000683709.1:n.1944C>T | ||
| ENST00000683957.1:n.3918C>T | ||
| ENST00000683995.1:n.610C>T | ||
| ENST00000684072.1:n.694C>T | ||
| ENST00000684130.1:c.3046C>T | ENSP00000508037.1:p.Arg1016Cys | |
| ENST00000684342.1:n.1509C>T | ||
| ENST00000684350.1:n.2280C>T | ||
| ENST00000343523.7:c.2320C>T | ENSP00000340057.4:p.Arg774Cys | |
| ENST00000357033.9:c.10465C>T MANE Select | ENSP00000354923.3:p.Arg3489Cys | |
| ENST00000619831.5:c.6433C>T | ENSP00000479270.2:p.Arg2145Cys | |
| ENST00000620040.5:c.3046C>T | ENSP00000478150.2:p.Arg1016Cys | |
| ENST00000679437.1:c.127C>T | ENSP00000506629.1:p.Arg43Cys | |
| ENST00000679641.1:c.*225+9138C>T | ENSP00000506135.1:n.*225+9138C>T | |
| ENST00000679706.1:c.180+9138C>T | ||
| ENST00000679850.1:n.5476C>T | ||
| ENST00000680162.1:c.1138C>T | ENSP00000506634.1:p.Arg380Cys | |
| ENST00000680355.1:c.1019+9138C>T | ENSP00000506257.1:n.1019+9138C>T | |
| ENST00000680557.1:c.603+34430C>T | ENSP00000505164.1:n.603+34430C>T | |
| ENST00000680701.1:n.240C>T | ||
| ENST00000680768.1:c.1165C>T | ENSP00000506359.1:p.Arg389Cys | |
| ENST00000680961.1:c.*428C>T | ENSP00000506386.1:n.*428C>T | |
| ENST00000681026.1:c.127C>T | ENSP00000506689.1:p.Arg43Cys | |
| ENST00000681153.1:c.1222C>T | ENSP00000505124.1:p.Arg408Cys | |
| ENST00000343523.6:c.2278C>T | ENSP00000340057.3:p.Arg760Cys | |
| ENST00000357033.8:c.10465C>T | ENSP00000354923.3:p.Arg3489Cys | |
| ENST00000358062.6:c.3514C>T | ENSP00000350765.2:p.Arg1172Cys | |
| ENST00000359836.5:c.3046C>T | ENSP00000352894.1:p.Arg1016Cys | |
| ENST00000361471.8:c.1222C>T | ENSP00000354464.4:p.Arg408Cys | |
| ENST00000378677.6:c.10453C>T | ENSP00000367948.2:p.Arg3485Cys | |
| ENST00000378680.6:c.1019+9138C>T | ENSP00000367951.2:n.1019+9138C>T | |
| ENST00000378702.8:c.1261C>T | ENSP00000367974.4:p.Arg421Cys | |
| ENST00000378707.7:c.3085C>T | ENSP00000367979.3:p.Arg1029Cys | |
| ENST00000378723.7:c.1261C>T | ENSP00000367997.3:p.Arg421Cys | |
| ENST00000474231.5:c.3085C>T | ENSP00000417123.1:p.Arg1029Cys | |
| ENST00000481143.2:n.26C>T | ||
| ENST00000541735.5:c.2843+9138C>T | ENSP00000444119.1:n.2843+9138C>T | |
| ENST00000619831.4:c.10450C>T | ENSP00000479270.1:p.Arg3484Cys | |
| ENST00000620040.4:c.10462C>T | ENSP00000478150.1:p.Arg3488Cys | |
| NM_000109.3:c.10441C>T | NP_000100.2:p.Arg3481Cys | |
| NM_004006.2:c.10465C>T , LRG_199t1:c.10465C>T | NP_003997.1:p.Arg3489Cys | |
| NM_004009.3:c.10453C>T | NP_004000.1:p.Arg3485Cys | |
| NM_004010.3:c.10096C>T | NP_004001.1:p.Arg3366Cys | |
| NM_004011.3:c.6442C>T | NP_004002.2:p.Arg2148Cys | |
| NM_004012.3:c.6433C>T | NP_004003.1:p.Arg2145Cys | |
| NM_004013.2:c.3085C>T | NP_004004.1:p.Arg1029Cys | |
| NM_004014.2:c.2278C>T | NP_004005.1:p.Arg760Cys | |
| NM_004015.2:c.1261C>T | NP_004006.1:p.Arg421Cys | |
| NM_004016.2:c.1261C>T | NP_004007.1:p.Arg421Cys | |
| NM_004017.2:c.1222C>T | NP_004008.1:p.Arg408Cys | |
| NM_004018.2:c.1222C>T | NP_004009.1:p.Arg408Cys | |
| NM_004020.3:c.2843+9138C>T | NP_004011.2:n.2843+9138C>T | |
| NM_004021.2:c.3085C>T | NP_004012.1:p.Arg1029Cys | |
| NM_004022.2:c.3046C>T | NP_004013.1:p.Arg1016Cys | |
| NM_004023.2:c.2843+9138C>T | NP_004014.1:n.2843+9138C>T | |
| XM_006724468.2:c.10465C>T | XP_006724531.1:p.Arg3489Cys | |
| XM_006724469.2:c.10441C>T | XP_006724532.1:p.Arg3481Cys | |
| XM_006724470.2:c.10426C>T | XP_006724533.1:p.Arg3476Cys | |
| XM_006724471.2:c.10360C>T | XP_006724534.1:p.Arg3454Cys | |
| XM_006724472.2:c.10336C>T | XP_006724535.1:p.Arg3446Cys | |
| XM_006724473.2:c.10327C>T | XP_006724536.1:p.Arg3443Cys | |
| XM_006724474.2:c.10223+9138C>T | XP_006724537.1:n.10223+9138C>T | |
| XM_006724475.2:c.10223+9138C>T | XP_006724538.1:n.10223+9138C>T | |
| XM_011545467.1:c.10342C>T | XP_011543769.1:p.Arg3448Cys | |
| XM_006724469.3:c.10441C>T | XP_006724532.1:p.Arg3481Cys | |
| XM_006724470.3:c.10426C>T | XP_006724533.1:p.Arg3476Cys | |
| XM_006724474.3:c.10223+9138C>T | XP_006724537.1:n.10223+9138C>T | |
| XM_017029328.1:c.10426C>T | XP_016884817.1:p.Arg3476Cys | |
| XM_017029331.1:c.4639C>T | XP_016884820.1:p.Arg1547Cys | |
| NM_000109.4:c.10441C>T | NP_000100.3:p.Arg3481Cys | |
| NM_004006.3:c.10465C>T MANE Select | NP_003997.2:p.Arg3489Cys | |
| NM_004011.4:c.6442C>T | NP_004002.3:p.Arg2148Cys | |
| NM_004012.4:c.6433C>T | NP_004003.2:p.Arg2145Cys | |
| NM_004015.3:c.1261C>T | NP_004006.1:p.Arg421Cys | |
| NM_004016.3:c.1261C>T | NP_004007.1:p.Arg421Cys | |
| NM_004017.3:c.1222C>T | NP_004008.1:p.Arg408Cys | |
| NM_004018.3:c.1222C>T | NP_004009.1:p.Arg408Cys | |
| NM_004021.3:c.3085C>T | NP_004012.2:p.Arg1029Cys | |
| NM_004023.3:c.2843+9138C>T | NP_004014.2:n.2843+9138C>T | |
| NM_004013.3:c.3085C>T | NP_004004.2:p.Arg1029Cys | |
| NM_004014.3:c.2278C>T | NP_004005.2:p.Arg760Cys | |
| NM_004020.4:c.2843+9138C>T | NP_004011.3:n.2843+9138C>T | |
| NM_004022.3:c.3046C>T | NP_004013.2:p.Arg1016Cys |