Linked Data
ClinVar Variation Id:
513434
dbSNP Id:
rs368594777
ExAC:
X:31187671 T / C
gnomAD v2:
X-31187671-T-C
gnomAD v3:
X-31169554-T-C
gnomAD v4:
X-31169554-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31169554T>C , CM000685.2:g.31169554T>C | GRCh38 |
| NC_000023.10:g.31187671T>C , CM000685.1:g.31187671T>C | GRCh37 |
| NC_000023.9:g.31097592T>C | NCBI36 |
| NG_012232.1:g.2175056A>G , LRG_199:g.2175056A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5249A>G | ENSP00000350765.3:p.Gln1750Arg | |
| ENST00000680162.2:c.1133A>G | ENSP00000506634.2:p.Gln378Arg | |
| ENST00000680768.2:c.1199A>G | ENSP00000506359.2:p.Gln400Arg | |
| ENST00000681989.1:n.1240A>G | ||
| ENST00000682207.1:n.562A>G | ||
| ENST00000682238.1:c.2843+9115A>G | ENSP00000508124.1:n.2843+9115A>G | |
| ENST00000682322.1:c.1133A>G | ENSP00000507690.1:p.Gln378Arg | |
| ENST00000682600.1:c.1199A>G | ENSP00000507640.1:p.Gln400Arg | |
| ENST00000682769.1:n.1034A>G | ||
| ENST00000683503.1:n.2257A>G | ||
| ENST00000683509.1:n.1920A>G | ||
| ENST00000683675.1:n.1541A>G | ||
| ENST00000683709.1:n.1921A>G | ||
| ENST00000683957.1:n.3895A>G | ||
| ENST00000683995.1:n.587A>G | ||
| ENST00000684072.1:n.671A>G | ||
| ENST00000684130.1:c.3023A>G | ENSP00000508037.1:p.Gln1008Arg | |
| ENST00000684342.1:n.1486A>G | ||
| ENST00000684350.1:n.2257A>G | ||
| ENST00000343523.7:c.2297A>G | ENSP00000340057.4:p.Gln766Arg | |
| ENST00000357033.9:c.10442A>G MANE Select | ENSP00000354923.3:p.Gln3481Arg | |
| ENST00000619831.5:c.6410A>G | ENSP00000479270.2:p.Gln2137Arg | |
| ENST00000620040.5:c.3023A>G | ENSP00000478150.2:p.Gln1008Arg | |
| ENST00000679437.1:c.104A>G | ENSP00000506629.1:p.Gln35Arg | |
| ENST00000679641.1:c.*225+9115A>G | ENSP00000506135.1:n.*225+9115A>G | |
| ENST00000679706.1:c.180+9115A>G | ||
| ENST00000679850.1:n.5453A>G | ||
| ENST00000680162.1:c.1115A>G | ENSP00000506634.1:p.Gln372Arg | |
| ENST00000680355.1:c.1019+9115A>G | ENSP00000506257.1:n.1019+9115A>G | |
| ENST00000680557.1:c.603+34407A>G | ENSP00000505164.1:n.603+34407A>G | |
| ENST00000680701.1:n.217A>G | ||
| ENST00000680768.1:c.1142A>G | ENSP00000506359.1:p.Gln381Arg | |
| ENST00000680961.1:c.*405A>G | ENSP00000506386.1:n.*405A>G | |
| ENST00000681026.1:c.104A>G | ENSP00000506689.1:p.Gln35Arg | |
| ENST00000681153.1:c.1199A>G | ENSP00000505124.1:p.Gln400Arg | |
| ENST00000343523.6:c.2255A>G | ENSP00000340057.3:p.Gln752Arg | |
| ENST00000357033.8:c.10442A>G | ENSP00000354923.3:p.Gln3481Arg | |
| ENST00000358062.6:c.3491A>G | ENSP00000350765.2:p.Gln1164Arg | |
| ENST00000359836.5:c.3023A>G | ENSP00000352894.1:p.Gln1008Arg | |
| ENST00000361471.8:c.1199A>G | ENSP00000354464.4:p.Gln400Arg | |
| ENST00000378677.6:c.10430A>G | ENSP00000367948.2:p.Gln3477Arg | |
| ENST00000378680.6:c.1019+9115A>G | ENSP00000367951.2:n.1019+9115A>G | |
| ENST00000378702.8:c.1238A>G | ENSP00000367974.4:p.Gln413Arg | |
| ENST00000378707.7:c.3062A>G | ENSP00000367979.3:p.Gln1021Arg | |
| ENST00000378723.7:c.1238A>G | ENSP00000367997.3:p.Gln413Arg | |
| ENST00000474231.5:c.3062A>G | ENSP00000417123.1:p.Gln1021Arg | |
| ENST00000481143.2:n.3A>G | ||
| ENST00000541735.5:c.2843+9115A>G | ENSP00000444119.1:n.2843+9115A>G | |
| ENST00000619831.4:c.10427A>G | ENSP00000479270.1:p.Gln3476Arg | |
| ENST00000620040.4:c.10439A>G | ENSP00000478150.1:p.Gln3480Arg | |
| NM_000109.3:c.10418A>G | NP_000100.2:p.Gln3473Arg | |
| NM_004006.2:c.10442A>G , LRG_199t1:c.10442A>G | NP_003997.1:p.Gln3481Arg | |
| NM_004009.3:c.10430A>G | NP_004000.1:p.Gln3477Arg | |
| NM_004010.3:c.10073A>G | NP_004001.1:p.Gln3358Arg | |
| NM_004011.3:c.6419A>G | NP_004002.2:p.Gln2140Arg | |
| NM_004012.3:c.6410A>G | NP_004003.1:p.Gln2137Arg | |
| NM_004013.2:c.3062A>G | NP_004004.1:p.Gln1021Arg | |
| NM_004014.2:c.2255A>G | NP_004005.1:p.Gln752Arg | |
| NM_004015.2:c.1238A>G | NP_004006.1:p.Gln413Arg | |
| NM_004016.2:c.1238A>G | NP_004007.1:p.Gln413Arg | |
| NM_004017.2:c.1199A>G | NP_004008.1:p.Gln400Arg | |
| NM_004018.2:c.1199A>G | NP_004009.1:p.Gln400Arg | |
| NM_004020.3:c.2843+9115A>G | NP_004011.2:n.2843+9115A>G | |
| NM_004021.2:c.3062A>G | NP_004012.1:p.Gln1021Arg | |
| NM_004022.2:c.3023A>G | NP_004013.1:p.Gln1008Arg | |
| NM_004023.2:c.2843+9115A>G | NP_004014.1:n.2843+9115A>G | |
| XM_006724468.2:c.10442A>G | XP_006724531.1:p.Gln3481Arg | |
| XM_006724469.2:c.10418A>G | XP_006724532.1:p.Gln3473Arg | |
| XM_006724470.2:c.10403A>G | XP_006724533.1:p.Gln3468Arg | |
| XM_006724471.2:c.10337A>G | XP_006724534.1:p.Gln3446Arg | |
| XM_006724472.2:c.10313A>G | XP_006724535.1:p.Gln3438Arg | |
| XM_006724473.2:c.10304A>G | XP_006724536.1:p.Gln3435Arg | |
| XM_006724474.2:c.10223+9115A>G | XP_006724537.1:n.10223+9115A>G | |
| XM_006724475.2:c.10223+9115A>G | XP_006724538.1:n.10223+9115A>G | |
| XM_011545467.1:c.10319A>G | XP_011543769.1:p.Gln3440Arg | |
| XM_006724469.3:c.10418A>G | XP_006724532.1:p.Gln3473Arg | |
| XM_006724470.3:c.10403A>G | XP_006724533.1:p.Gln3468Arg | |
| XM_006724474.3:c.10223+9115A>G | XP_006724537.1:n.10223+9115A>G | |
| XM_017029328.1:c.10403A>G | XP_016884817.1:p.Gln3468Arg | |
| XM_017029331.1:c.4616A>G | XP_016884820.1:p.Gln1539Arg | |
| NM_000109.4:c.10418A>G | NP_000100.3:p.Gln3473Arg | |
| NM_004006.3:c.10442A>G MANE Select | NP_003997.2:p.Gln3481Arg | |
| NM_004011.4:c.6419A>G | NP_004002.3:p.Gln2140Arg | |
| NM_004012.4:c.6410A>G | NP_004003.2:p.Gln2137Arg | |
| NM_004015.3:c.1238A>G | NP_004006.1:p.Gln413Arg | |
| NM_004016.3:c.1238A>G | NP_004007.1:p.Gln413Arg | |
| NM_004017.3:c.1199A>G | NP_004008.1:p.Gln400Arg | |
| NM_004018.3:c.1199A>G | NP_004009.1:p.Gln400Arg | |
| NM_004021.3:c.3062A>G | NP_004012.2:p.Gln1021Arg | |
| NM_004023.3:c.2843+9115A>G | NP_004014.2:n.2843+9115A>G | |
| NM_004013.3:c.3062A>G | NP_004004.2:p.Gln1021Arg | |
| NM_004014.3:c.2255A>G | NP_004005.2:p.Gln752Arg | |
| NM_004020.4:c.2843+9115A>G | NP_004011.3:n.2843+9115A>G | |
| NM_004022.3:c.3023A>G | NP_004013.2:p.Gln1008Arg |