Linked Data
ClinVar Variation Id:
283335
dbSNP Id:
rs776084073
ExAC:
X:31191693 C / T
gnomAD v2:
X-31191693-C-T
gnomAD v4:
X-31173576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31173576C>T , CM000685.2:g.31173576C>T | GRCh38 |
| NC_000023.10:g.31191693C>T , CM000685.1:g.31191693C>T | GRCh37 |
| NC_000023.9:g.31101614C>T | NCBI36 |
| NG_012232.1:g.2171034G>A , LRG_199:g.2171034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5098G>A | ENSP00000350765.3:p.Asp1700Asn | |
| ENST00000680162.2:c.1020-1163G>A | ENSP00000506634.2:n.1020-1163G>A | |
| ENST00000680768.2:c.1048G>A | ENSP00000506359.2:p.Asp350Asn | |
| ENST00000681989.1:n.1089G>A | ||
| ENST00000682238.1:c.2843+5093G>A | ENSP00000508124.1:n.2843+5093G>A | |
| ENST00000682322.1:c.1020-1163G>A | ENSP00000507690.1:n.1020-1163G>A | |
| ENST00000682600.1:c.1048G>A | ENSP00000507640.1:p.Asp350Asn | |
| ENST00000682769.1:n.883G>A | ||
| ENST00000683503.1:n.2106G>A | ||
| ENST00000683509.1:n.1769G>A | ||
| ENST00000683675.1:n.1390G>A | ||
| ENST00000683709.1:n.1770G>A | ||
| ENST00000683957.1:n.3744G>A | ||
| ENST00000684072.1:n.520G>A | ||
| ENST00000684130.1:c.2872G>A | ENSP00000508037.1:p.Asp958Asn | |
| ENST00000684350.1:n.2106G>A | ||
| ENST00000343523.7:c.2146G>A | ENSP00000340057.4:p.Asp716Asn | |
| ENST00000357033.9:c.10291G>A MANE Select | ENSP00000354923.3:p.Asp3431Asn | |
| ENST00000619831.5:c.6259G>A | ENSP00000479270.2:p.Asp2087Asn | |
| ENST00000620040.5:c.2872G>A | ENSP00000478150.2:p.Asp958Asn | |
| ENST00000679437.1:c.-48G>A | ENSP00000506629.1:n.-48G>A | |
| ENST00000679641.1:c.*225+5093G>A | ENSP00000506135.1:n.*225+5093G>A | |
| ENST00000679706.1:c.180+5093G>A | ||
| ENST00000679850.1:n.4177G>A | ||
| ENST00000680162.1:c.964G>A | ENSP00000506634.1:p.Asp322Asn | |
| ENST00000680355.1:c.1019+5093G>A | ENSP00000506257.1:n.1019+5093G>A | |
| ENST00000680557.1:c.603+30385G>A | ENSP00000505164.1:n.603+30385G>A | |
| ENST00000680701.1:n.66G>A | ||
| ENST00000680768.1:c.991G>A | ENSP00000506359.1:p.Asp331Asn | |
| ENST00000680961.1:c.*254G>A | ENSP00000506386.1:n.*254G>A | |
| ENST00000681026.1:c.-48G>A | ENSP00000506689.1:n.-48G>A | |
| ENST00000681153.1:c.1048G>A | ENSP00000505124.1:p.Asp350Asn | |
| ENST00000343523.6:c.2104G>A | ENSP00000340057.3:p.Asp702Asn | |
| ENST00000357033.8:c.10291G>A | ENSP00000354923.3:p.Asp3431Asn | |
| ENST00000358062.6:c.3340G>A | ENSP00000350765.2:p.Asp1114Asn | |
| ENST00000359836.5:c.2872G>A | ENSP00000352894.1:p.Asp958Asn | |
| ENST00000361471.8:c.1048G>A | ENSP00000354464.4:p.Asp350Asn | |
| ENST00000378677.6:c.10279G>A | ENSP00000367948.2:p.Asp3427Asn | |
| ENST00000378680.6:c.1019+5093G>A | ENSP00000367951.2:n.1019+5093G>A | |
| ENST00000378702.8:c.1087G>A | ENSP00000367974.4:p.Asp363Asn | |
| ENST00000378705.3:c.661G>A | ENSP00000367977.3:p.Asp221Asn | |
| ENST00000378707.7:c.2911G>A | ENSP00000367979.3:p.Asp971Asn | |
| ENST00000378723.7:c.1087G>A | ENSP00000367997.3:p.Asp363Asn | |
| ENST00000474231.5:c.2911G>A | ENSP00000417123.1:p.Asp971Asn | |
| ENST00000541735.5:c.2843+5093G>A | ENSP00000444119.1:n.2843+5093G>A | |
| ENST00000619831.4:c.10276G>A | ENSP00000479270.1:p.Asp3426Asn | |
| ENST00000620040.4:c.10288G>A | ENSP00000478150.1:p.Asp3430Asn | |
| NM_000109.3:c.10267G>A | NP_000100.2:p.Asp3423Asn | |
| NM_004006.2:c.10291G>A , LRG_199t1:c.10291G>A | NP_003997.1:p.Asp3431Asn | |
| NM_004009.3:c.10279G>A | NP_004000.1:p.Asp3427Asn | |
| NM_004010.3:c.9922G>A | NP_004001.1:p.Asp3308Asn | |
| NM_004011.3:c.6268G>A | NP_004002.2:p.Asp2090Asn | |
| NM_004012.3:c.6259G>A | NP_004003.1:p.Asp2087Asn | |
| NM_004013.2:c.2911G>A | NP_004004.1:p.Asp971Asn | |
| NM_004014.2:c.2104G>A | NP_004005.1:p.Asp702Asn | |
| NM_004015.2:c.1087G>A | NP_004006.1:p.Asp363Asn | |
| NM_004016.2:c.1087G>A | NP_004007.1:p.Asp363Asn | |
| NM_004017.2:c.1048G>A | NP_004008.1:p.Asp350Asn | |
| NM_004018.2:c.1048G>A | NP_004009.1:p.Asp350Asn | |
| NM_004020.3:c.2843+5093G>A | NP_004011.2:n.2843+5093G>A | |
| NM_004021.2:c.2911G>A | NP_004012.1:p.Asp971Asn | |
| NM_004022.2:c.2872G>A | NP_004013.1:p.Asp958Asn | |
| NM_004023.2:c.2843+5093G>A | NP_004014.1:n.2843+5093G>A | |
| XM_006724468.2:c.10291G>A | XP_006724531.1:p.Asp3431Asn | |
| XM_006724469.2:c.10267G>A | XP_006724532.1:p.Asp3423Asn | |
| XM_006724470.2:c.10252G>A | XP_006724533.1:p.Asp3418Asn | |
| XM_006724471.2:c.10224-1163G>A | XP_006724534.1:n.10224-1163G>A | |
| XM_006724472.2:c.10162G>A | XP_006724535.1:p.Asp3388Asn | |
| XM_006724473.2:c.10153G>A | XP_006724536.1:p.Asp3385Asn | |
| XM_006724474.2:c.10223+5093G>A | XP_006724537.1:n.10223+5093G>A | |
| XM_006724475.2:c.10223+5093G>A | XP_006724538.1:n.10223+5093G>A | |
| XM_011545467.1:c.10168G>A | XP_011543769.1:p.Asp3390Asn | |
| XM_006724469.3:c.10267G>A | XP_006724532.1:p.Asp3423Asn | |
| XM_006724470.3:c.10252G>A | XP_006724533.1:p.Asp3418Asn | |
| XM_006724474.3:c.10223+5093G>A | XP_006724537.1:n.10223+5093G>A | |
| XM_017029328.1:c.10252G>A | XP_016884817.1:p.Asp3418Asn | |
| XM_017029331.1:c.4465G>A | XP_016884820.1:p.Asp1489Asn | |
| NM_000109.4:c.10267G>A | NP_000100.3:p.Asp3423Asn | |
| NM_004006.3:c.10291G>A MANE Select | NP_003997.2:p.Asp3431Asn | |
| NM_004011.4:c.6268G>A | NP_004002.3:p.Asp2090Asn | |
| NM_004012.4:c.6259G>A | NP_004003.2:p.Asp2087Asn | |
| NM_004015.3:c.1087G>A | NP_004006.1:p.Asp363Asn | |
| NM_004016.3:c.1087G>A | NP_004007.1:p.Asp363Asn | |
| NM_004017.3:c.1048G>A | NP_004008.1:p.Asp350Asn | |
| NM_004018.3:c.1048G>A | NP_004009.1:p.Asp350Asn | |
| NM_004021.3:c.2911G>A | NP_004012.2:p.Asp971Asn | |
| NM_004023.3:c.2843+5093G>A | NP_004014.2:n.2843+5093G>A | |
| NM_004013.3:c.2911G>A | NP_004004.2:p.Asp971Asn | |
| NM_004014.3:c.2104G>A | NP_004005.2:p.Asp702Asn | |
| NM_004020.4:c.2843+5093G>A | NP_004011.3:n.2843+5093G>A | |
| NM_004022.3:c.2872G>A | NP_004013.2:p.Asp958Asn |