Linked Data
ClinVar Variation Id:
452134
dbSNP Id:
rs373898385
ExAC:
X:31196062 G / C
gnomAD v2:
X-31196062-G-C
gnomAD v3:
X-31177945-G-C
gnomAD v4:
X-31177945-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31177945G>C , CM000685.2:g.31177945G>C | GRCh38 |
| NC_000023.10:g.31196062G>C , CM000685.1:g.31196062G>C | GRCh37 |
| NC_000023.9:g.31105983G>C | NCBI36 |
| NG_012232.1:g.2166665C>G , LRG_199:g.2166665C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5069+724C>G | ENSP00000350765.3:n.5069+724C>G | |
| ENST00000680162.2:c.1019+724C>G | ENSP00000506634.2:n.1019+724C>G | |
| ENST00000680768.2:c.1019+724C>G | ENSP00000506359.2:n.1019+724C>G | |
| ENST00000681989.1:n.1047C>G | ||
| ENST00000682238.1:c.2843+724C>G | ENSP00000508124.1:n.2843+724C>G | |
| ENST00000682322.1:c.1019+724C>G | ENSP00000507690.1:n.1019+724C>G | |
| ENST00000682600.1:c.1019+724C>G | ENSP00000507640.1:n.1019+724C>G | |
| ENST00000682769.1:n.854+724C>G | ||
| ENST00000683509.1:n.1740+724C>G | ||
| ENST00000683675.1:n.1348C>G | ||
| ENST00000683709.1:n.1741+724C>G | ||
| ENST00000683957.1:n.3715+724C>G | ||
| ENST00000684072.1:n.478C>G | ||
| ENST00000684130.1:c.2843+724C>G | ENSP00000508037.1:n.2843+724C>G | |
| ENST00000343523.7:c.2104C>G | ENSP00000340057.4:p.Pro702Ala | |
| ENST00000357033.9:c.10249C>G MANE Select | ENSP00000354923.3:p.Pro3417Ala | |
| ENST00000619831.5:c.6217C>G | ENSP00000479270.2:p.Pro2073Ala | |
| ENST00000620040.5:c.2843+724C>G | ENSP00000478150.2:n.2843+724C>G | |
| ENST00000679437.1:c.-90C>G | ENSP00000506629.1:n.-90C>G | |
| ENST00000679641.1:c.*225+724C>G | ENSP00000506135.1:n.*225+724C>G | |
| ENST00000679706.1:c.180+724C>G | ||
| ENST00000680162.1:c.922C>G | ENSP00000506634.1:p.Pro308Ala | |
| ENST00000680355.1:c.1019+724C>G | ENSP00000506257.1:n.1019+724C>G | |
| ENST00000680557.1:c.603+26016C>G | ENSP00000505164.1:n.603+26016C>G | |
| ENST00000680768.1:c.962+724C>G | ENSP00000506359.1:n.962+724C>G | |
| ENST00000680961.1:c.*225+724C>G | ENSP00000506386.1:n.*225+724C>G | |
| ENST00000681026.1:c.-90C>G | ENSP00000506689.1:n.-90C>G | |
| ENST00000681153.1:c.1019+724C>G | ENSP00000505124.1:n.1019+724C>G | |
| ENST00000343523.6:c.2062C>G | ENSP00000340057.3:p.Pro688Ala | |
| ENST00000357033.8:c.10249C>G | ENSP00000354923.3:p.Pro3417Ala | |
| ENST00000358062.6:c.3311+724C>G | ENSP00000350765.2:n.3311+724C>G | |
| ENST00000359836.5:c.2843+724C>G | ENSP00000352894.1:n.2843+724C>G | |
| ENST00000361471.8:c.1019+724C>G | ENSP00000354464.4:n.1019+724C>G | |
| ENST00000378677.6:c.10237C>G | ENSP00000367948.2:p.Pro3413Ala | |
| ENST00000378680.6:c.1019+724C>G | ENSP00000367951.2:n.1019+724C>G | |
| ENST00000378702.8:c.1045C>G | ENSP00000367974.4:p.Pro349Ala | |
| ENST00000378705.3:c.619C>G | ENSP00000367977.3:p.Pro207Ala | |
| ENST00000378707.7:c.2869C>G | ENSP00000367979.3:p.Pro957Ala | |
| ENST00000378723.7:c.1045C>G | ENSP00000367997.3:p.Pro349Ala | |
| ENST00000474231.5:c.2869C>G | ENSP00000417123.1:p.Pro957Ala | |
| ENST00000541735.5:c.2843+724C>G | ENSP00000444119.1:n.2843+724C>G | |
| ENST00000619831.4:c.10234C>G | ENSP00000479270.1:p.Pro3412Ala | |
| ENST00000620040.4:c.10246C>G | ENSP00000478150.1:p.Pro3416Ala | |
| NM_000109.3:c.10225C>G | NP_000100.2:p.Pro3409Ala | |
| NM_004006.2:c.10249C>G , LRG_199t1:c.10249C>G | NP_003997.1:p.Pro3417Ala | |
| NM_004009.3:c.10237C>G | NP_004000.1:p.Pro3413Ala | |
| NM_004010.3:c.9880C>G | NP_004001.1:p.Pro3294Ala | |
| NM_004011.3:c.6226C>G | NP_004002.2:p.Pro2076Ala | |
| NM_004012.3:c.6217C>G | NP_004003.1:p.Pro2073Ala | |
| NM_004013.2:c.2869C>G | NP_004004.1:p.Pro957Ala | |
| NM_004014.2:c.2062C>G | NP_004005.1:p.Pro688Ala | |
| NM_004015.2:c.1045C>G | NP_004006.1:p.Pro349Ala | |
| NM_004016.2:c.1045C>G | NP_004007.1:p.Pro349Ala | |
| NM_004017.2:c.1019+724C>G | NP_004008.1:n.1019+724C>G | |
| NM_004018.2:c.1019+724C>G | NP_004009.1:n.1019+724C>G | |
| NM_004020.3:c.2843+724C>G | NP_004011.2:n.2843+724C>G | |
| NM_004021.2:c.2869C>G | NP_004012.1:p.Pro957Ala | |
| NM_004022.2:c.2843+724C>G | NP_004013.1:n.2843+724C>G | |
| NM_004023.2:c.2843+724C>G | NP_004014.1:n.2843+724C>G | |
| XM_006724468.2:c.10249C>G | XP_006724531.1:p.Pro3417Ala | |
| XM_006724469.2:c.10225C>G | XP_006724532.1:p.Pro3409Ala | |
| XM_006724470.2:c.10223+724C>G | XP_006724533.1:n.10223+724C>G | |
| XM_006724471.2:c.10223+724C>G | XP_006724534.1:n.10223+724C>G | |
| XM_006724472.2:c.10120C>G | XP_006724535.1:p.Pro3374Ala | |
| XM_006724473.2:c.10111C>G | XP_006724536.1:p.Pro3371Ala | |
| XM_006724474.2:c.10223+724C>G | XP_006724537.1:n.10223+724C>G | |
| XM_006724475.2:c.10223+724C>G | XP_006724538.1:n.10223+724C>G | |
| XM_011545467.1:c.10126C>G | XP_011543769.1:p.Pro3376Ala | |
| XM_006724469.3:c.10225C>G | XP_006724532.1:p.Pro3409Ala | |
| XM_006724470.3:c.10223+724C>G | XP_006724533.1:n.10223+724C>G | |
| XM_006724474.3:c.10223+724C>G | XP_006724537.1:n.10223+724C>G | |
| XM_017029328.1:c.10223+724C>G | XP_016884817.1:n.10223+724C>G | |
| XM_017029331.1:c.4423C>G | XP_016884820.1:p.Pro1475Ala | |
| NM_000109.4:c.10225C>G | NP_000100.3:p.Pro3409Ala | |
| NM_004006.3:c.10249C>G MANE Select | NP_003997.2:p.Pro3417Ala | |
| NM_004011.4:c.6226C>G | NP_004002.3:p.Pro2076Ala | |
| NM_004012.4:c.6217C>G | NP_004003.2:p.Pro2073Ala | |
| NM_004015.3:c.1045C>G | NP_004006.1:p.Pro349Ala | |
| NM_004016.3:c.1045C>G | NP_004007.1:p.Pro349Ala | |
| NM_004017.3:c.1019+724C>G | NP_004008.1:n.1019+724C>G | |
| NM_004018.3:c.1019+724C>G | NP_004009.1:n.1019+724C>G | |
| NM_004021.3:c.2869C>G | NP_004012.2:p.Pro957Ala | |
| NM_004023.3:c.2843+724C>G | NP_004014.2:n.2843+724C>G | |
| NM_004013.3:c.2869C>G | NP_004004.2:p.Pro957Ala | |
| NM_004014.3:c.2062C>G | NP_004005.2:p.Pro688Ala | |
| NM_004020.4:c.2843+724C>G | NP_004011.3:n.2843+724C>G | |
| NM_004022.3:c.2843+724C>G | NP_004013.2:n.2843+724C>G |