Linked Data
ClinVar Variation Id:
789195
ClinVar RCV Id:
RCV000971768
dbSNP Id:
rs139753749
ExAC:
8:141810604 C / A
gnomAD v2:
8-141810604-C-A
gnomAD v3:
8-140800505-C-A
gnomAD v4:
8-140800505-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.140800505C>A , CM000670.2:g.140800505C>A | GRCh38 |
| NC_000008.10:g.141810604C>A , CM000670.1:g.141810604C>A | GRCh37 |
| NC_000008.9:g.141879786C>A | NCBI36 |
| NG_029467.1:g.205809G>T | |
| NG_029467.2:g.205809G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696786.1:c.1047G>T MANE Select | ENSP00000512868.1:p.Arg349= | |
| ENST00000340930.7:c.1047G>T | ENSP00000341189.3:p.Arg349= | |
| ENST00000395218.3:c.1047G>T | ENSP00000378644.3:p.Arg349= | |
| ENST00000517887.5:c.1179G>T | ENSP00000429082.1:p.Arg393= | |
| ENST00000519419.5:c.1179G>T | ENSP00000429129.1:p.Arg393= | |
| ENST00000519654.5:c.1078G>T | ||
| ENST00000519993.5:c.*679G>T | ENSP00000428570.1:n.*679G>T | |
| ENST00000521059.5:c.1047G>T | ENSP00000429474.1:p.Arg349= | |
| ENST00000521250.5:c.45G>T | ENSP00000427972.1:p.Arg15= | |
| ENST00000521981.5:c.39G>T | ENSP00000428593.1:p.Arg13= | |
| ENST00000521986.5:c.39G>T | ENSP00000430603.1:p.Arg13= | |
| ENST00000522684.5:c.1047G>T | ENSP00000429911.1:p.Arg349= | |
| ENST00000523539.5:c.42G>T | ENSP00000428492.1:p.Arg14= | |
| ENST00000524202.5:c.485G>T | ||
| NM_001199649.1:c.1047G>T | NP_001186578.1:p.Arg349= | |
| NM_001316342.1:c.708G>T | NP_001303271.1:p.Arg236= | |
| NM_005607.4:c.1113G>T | NP_005598.3:p.Arg371= | |
| NM_153831.3:c.1047G>T | NP_722560.1:p.Arg349= | |
| XM_005251003.1:c.1179G>T | XP_005251060.1:p.Arg393= | |
| XM_005251012.1:c.1047G>T | XP_005251069.1:p.Arg349= | |
| XM_005251013.1:c.708G>T | XP_005251070.1:p.Arg236= | |
| XM_006716606.1:c.1086G>T | XP_006716669.1:p.Arg362= | |
| XM_006716608.1:c.1047G>T | XP_006716671.1:p.Arg349= | |
| XM_006716609.1:c.708G>T | XP_006716672.1:p.Arg236= | |
| XM_006716610.1:c.708G>T | XP_006716673.1:p.Arg236= | |
| XM_011517180.1:c.1200G>T | XP_011515482.1:p.Arg400= | |
| XM_011517181.1:c.1200G>T | XP_011515483.1:p.Arg400= | |
| XM_011517182.1:c.1200G>T | XP_011515484.1:p.Arg400= | |
| XM_011517183.1:c.1200G>T | XP_011515485.1:p.Arg400= | |
| XM_011517184.1:c.1200G>T | XP_011515486.1:p.Arg400= | |
| XM_011517185.1:c.1200G>T | XP_011515487.1:p.Arg400= | |
| XM_011517186.1:c.1200G>T | XP_011515488.1:p.Arg400= | |
| XM_011517187.1:c.1200G>T | XP_011515489.1:p.Arg400= | |
| XM_011517188.1:c.1200G>T | XP_011515490.1:p.Arg400= | |
| XM_011517189.1:c.1092G>T | XP_011515491.1:p.Arg364= | |
| XM_011517190.1:c.1200G>T | XP_011515492.1:p.Arg400= | |
| XM_011517191.1:c.1200G>T | XP_011515493.1:p.Arg400= | |
| XM_011517192.1:c.1200G>T | XP_011515494.1:p.Arg400= | |
| XM_011517193.1:c.1047G>T | XP_011515495.1:p.Arg349= | |
| XM_011517194.1:c.1047G>T | XP_011515496.1:p.Arg349= | |
| XM_011517195.1:c.1047G>T | XP_011515497.1:p.Arg349= | |
| XM_011517196.1:c.1047G>T | XP_011515498.1:p.Arg349= | |
| XM_011517197.1:c.708G>T | XP_011515499.1:p.Arg236= | |
| XM_011517198.1:c.1047G>T | XP_011515500.1:p.Arg349= | |
| NM_001352694.1:c.1047G>T | NP_001339623.1:p.Arg349= | |
| NM_001352695.1:c.1047G>T | NP_001339624.1:p.Arg349= | |
| NM_001352696.1:c.708G>T | NP_001339625.1:p.Arg236= | |
| NM_001352697.1:c.1179G>T | NP_001339626.1:p.Arg393= | |
| NM_001352698.1:c.1086G>T | NP_001339627.1:p.Arg362= | |
| NM_001352699.1:c.1047G>T | NP_001339628.1:p.Arg349= | |
| NM_001352700.1:c.1047G>T | NP_001339629.1:p.Arg349= | |
| NM_001352701.1:c.1047G>T | NP_001339630.1:p.Arg349= | |
| NM_001352702.1:c.1047G>T | NP_001339631.1:p.Arg349= | |
| NM_001352703.1:c.1047G>T | NP_001339632.1:p.Arg349= | |
| NM_001352704.1:c.1047G>T | NP_001339633.1:p.Arg349= | |
| NM_001352705.1:c.1086G>T | NP_001339634.1:p.Arg362= | |
| NM_001352706.1:c.1047G>T | NP_001339635.1:p.Arg349= | |
| NM_001352707.1:c.1047G>T | NP_001339636.1:p.Arg349= | |
| NM_001352708.1:c.1047G>T | NP_001339637.1:p.Arg349= | |
| NM_001352709.1:c.1047G>T | NP_001339638.1:p.Arg349= | |
| NM_001352710.1:c.1047G>T | NP_001339639.1:p.Arg349= | |
| NM_001352711.1:c.1047G>T | NP_001339640.1:p.Arg349= | |
| NM_001352712.1:c.1047G>T | NP_001339641.1:p.Arg349= | |
| NM_001352713.1:c.1047G>T | NP_001339642.1:p.Arg349= | |
| NM_001352714.1:c.1047G>T | NP_001339643.1:p.Arg349= | |
| NM_001352715.1:c.1047G>T | NP_001339644.1:p.Arg349= | |
| NM_001352716.1:c.939G>T | NP_001339645.1:p.Arg313= | |
| NM_001352717.1:c.1047G>T | NP_001339646.1:p.Arg349= | |
| NM_001352718.1:c.1047G>T | NP_001339647.1:p.Arg349= | |
| NM_001352719.1:c.1047G>T | NP_001339648.1:p.Arg349= | |
| NM_001352720.1:c.1047G>T | NP_001339649.1:p.Arg349= | |
| NM_001352721.1:c.1047G>T | NP_001339650.1:p.Arg349= | |
| NM_001352722.1:c.1047G>T | NP_001339651.1:p.Arg349= | |
| NM_001352723.1:c.1047G>T | NP_001339652.1:p.Arg349= | |
| NM_001352724.1:c.1047G>T | NP_001339653.1:p.Arg349= | |
| NM_001352725.1:c.1047G>T | NP_001339654.1:p.Arg349= | |
| NM_001352726.1:c.939G>T | NP_001339655.1:p.Arg313= | |
| NM_001352727.1:c.1047G>T | NP_001339656.1:p.Arg349= | |
| NM_001352728.1:c.939G>T | NP_001339657.1:p.Arg313= | |
| NM_001352729.1:c.939G>T | NP_001339658.1:p.Arg313= | |
| NM_001352730.1:c.708G>T | NP_001339659.1:p.Arg236= | |
| NM_001352731.1:c.708G>T | NP_001339660.1:p.Arg236= | |
| NM_001352732.1:c.708G>T | NP_001339661.1:p.Arg236= | |
| NM_001352733.1:c.708G>T | NP_001339662.1:p.Arg236= | |
| NM_001352734.1:c.708G>T | NP_001339663.1:p.Arg236= | |
| NM_001352735.1:c.645G>T | NP_001339664.1:p.Arg215= | |
| NM_001352736.1:c.744G>T | NP_001339665.1:p.Arg248= | |
| NM_001352737.1:c.708G>T | NP_001339666.1:p.Arg236= | |
| NM_001352738.1:c.708G>T | NP_001339667.1:p.Arg236= | |
| NM_001352739.1:c.708G>T | NP_001339668.1:p.Arg236= | |
| NM_001352740.1:c.708G>T | NP_001339669.1:p.Arg236= | |
| NM_001352741.1:c.708G>T | NP_001339670.1:p.Arg236= | |
| NM_001352742.1:c.645G>T | NP_001339671.1:p.Arg215= | |
| NM_001352743.1:c.708G>T | NP_001339672.1:p.Arg236= | |
| NM_001352744.1:c.600G>T | NP_001339673.1:p.Arg200= | |
| NM_001352745.1:c.600G>T | NP_001339674.1:p.Arg200= | |
| NM_001352746.1:c.537G>T | NP_001339675.1:p.Arg179= | |
| NM_001352747.1:c.-593G>T | NP_001339676.1:n.-593G>T | |
| NM_001352748.1:c.1047G>T | NP_001339677.1:p.Arg349= | |
| NR_148036.1:n.1357G>T | ||
| NR_148037.1:n.1472G>T | ||
| NR_148038.1:n.1190G>T | ||
| NR_148039.1:n.1082G>T | ||
| XM_017013653.2:c.1179G>T | XP_016869142.1:p.Arg393= | |
| XM_017013654.2:c.1179G>T | XP_016869143.1:p.Arg393= | |
| XM_017013656.2:c.1179G>T | XP_016869145.1:p.Arg393= | |
| XM_017013657.2:c.1179G>T | XP_016869146.1:p.Arg393= | |
| XM_017013664.2:c.1047G>T | XP_016869153.1:p.Arg349= | |
| XM_017013666.1:c.1071G>T | XP_016869155.1:p.Arg357= | |
| XM_017013669.2:c.1047G>T | XP_016869158.1:p.Arg349= | |
| XM_017013684.2:c.708G>T | XP_016869173.1:p.Arg236= | |
| XM_017013688.2:c.600G>T | XP_016869177.1:p.Arg200= | |
| XM_024447199.1:c.1200G>T | XP_024302967.1:p.Arg400= | |
| XM_024447200.1:c.1200G>T | XP_024302968.1:p.Arg400= | |
| XM_024447201.1:c.1200G>T | XP_024302969.1:p.Arg400= | |
| XM_024447202.1:c.1200G>T | XP_024302970.1:p.Arg400= | |
| XM_024447203.1:c.1200G>T | XP_024302971.1:p.Arg400= | |
| XM_024447204.1:c.1200G>T | XP_024302972.1:p.Arg400= | |
| XM_024447205.1:c.1200G>T | XP_024302973.1:p.Arg400= | |
| XM_024447206.1:c.1200G>T | XP_024302974.1:p.Arg400= | |
| XM_024447207.1:c.1200G>T | XP_024302975.1:p.Arg400= | |
| XM_024447208.1:c.1092G>T | XP_024302976.1:p.Arg364= | |
| XM_024447209.1:c.1092G>T | XP_024302977.1:p.Arg364= | |
| XM_024447210.1:c.1092G>T | XP_024302978.1:p.Arg364= | |
| XM_024447211.1:c.939G>T | XP_024302979.1:p.Arg313= | |
| XM_024447212.1:c.708G>T | XP_024302980.1:p.Arg236= | |
| NM_001199649.2:c.1047G>T | NP_001186578.1:p.Arg349= | |
| NM_001316342.2:c.708G>T | NP_001303271.1:p.Arg236= | |
| NM_001352694.2:c.1047G>T | NP_001339623.1:p.Arg349= | |
| NM_001352695.2:c.1047G>T | NP_001339624.1:p.Arg349= | |
| NM_001352696.2:c.708G>T | NP_001339625.1:p.Arg236= | |
| NM_001352697.2:c.1179G>T | NP_001339626.1:p.Arg393= | |
| NM_001352698.2:c.1086G>T | NP_001339627.1:p.Arg362= | |
| NM_001352699.2:c.1047G>T | NP_001339628.1:p.Arg349= | |
| NM_001352700.2:c.1047G>T | NP_001339629.1:p.Arg349= | |
| NM_001352701.2:c.1047G>T | NP_001339630.1:p.Arg349= | |
| NM_001352702.2:c.1047G>T MANE Select | NP_001339631.1:p.Arg349= | |
| NM_001352703.2:c.1047G>T | NP_001339632.1:p.Arg349= | |
| NM_001352704.2:c.1047G>T | NP_001339633.1:p.Arg349= | |
| NM_001352705.2:c.1086G>T | NP_001339634.1:p.Arg362= | |
| NM_001352706.2:c.1047G>T | NP_001339635.1:p.Arg349= | |
| NM_001352707.2:c.1047G>T | NP_001339636.1:p.Arg349= | |
| NM_001352708.2:c.1047G>T | NP_001339637.1:p.Arg349= | |
| NM_001352709.2:c.1047G>T | NP_001339638.1:p.Arg349= | |
| NM_001352710.2:c.1047G>T | NP_001339639.1:p.Arg349= | |
| NM_001352711.2:c.1047G>T | NP_001339640.1:p.Arg349= | |
| NM_001352712.2:c.1047G>T | NP_001339641.1:p.Arg349= | |
| NM_001352713.2:c.1047G>T | NP_001339642.1:p.Arg349= | |
| NM_001352714.2:c.1047G>T | NP_001339643.1:p.Arg349= | |
| NM_001352715.2:c.1047G>T | NP_001339644.1:p.Arg349= | |
| NM_001352716.2:c.939G>T | NP_001339645.1:p.Arg313= | |
| NM_001352717.2:c.1047G>T | NP_001339646.1:p.Arg349= | |
| NM_001352718.2:c.1047G>T | NP_001339647.1:p.Arg349= | |
| NM_001352719.2:c.1047G>T | NP_001339648.1:p.Arg349= | |
| NM_001352720.2:c.1047G>T | NP_001339649.1:p.Arg349= | |
| NM_001352721.2:c.1047G>T | NP_001339650.1:p.Arg349= | |
| NM_001352722.2:c.1047G>T | NP_001339651.1:p.Arg349= | |
| NM_001352723.2:c.1047G>T | NP_001339652.1:p.Arg349= | |
| NM_001352724.2:c.1047G>T | NP_001339653.1:p.Arg349= | |
| NM_001352725.2:c.1047G>T | NP_001339654.1:p.Arg349= | |
| NM_001352726.2:c.939G>T | NP_001339655.1:p.Arg313= | |
| NM_001352727.2:c.1047G>T | NP_001339656.1:p.Arg349= | |
| NM_001352728.2:c.939G>T | NP_001339657.1:p.Arg313= | |
| NM_001352729.2:c.939G>T | NP_001339658.1:p.Arg313= | |
| NM_001352730.2:c.708G>T | NP_001339659.1:p.Arg236= | |
| NM_001352731.2:c.708G>T | NP_001339660.1:p.Arg236= | |
| NM_001352732.2:c.708G>T | NP_001339661.1:p.Arg236= | |
| NM_001352733.2:c.708G>T | NP_001339662.1:p.Arg236= | |
| NM_001352734.2:c.708G>T | NP_001339663.1:p.Arg236= | |
| NM_001352735.2:c.645G>T | NP_001339664.1:p.Arg215= | |
| NM_001352736.2:c.744G>T | NP_001339665.1:p.Arg248= | |
| NM_001352737.2:c.708G>T | NP_001339666.1:p.Arg236= | |
| NM_001352738.2:c.708G>T | NP_001339667.1:p.Arg236= | |
| NM_001352739.2:c.708G>T | NP_001339668.1:p.Arg236= | |
| NM_001352740.2:c.708G>T | NP_001339669.1:p.Arg236= | |
| NM_001352741.2:c.708G>T | NP_001339670.1:p.Arg236= | |
| NM_001352742.2:c.645G>T | NP_001339671.1:p.Arg215= | |
| NM_001352743.2:c.708G>T | NP_001339672.1:p.Arg236= | |
| NM_001352744.2:c.600G>T | NP_001339673.1:p.Arg200= | |
| NM_001352745.2:c.600G>T | NP_001339674.1:p.Arg200= | |
| NM_001352746.2:c.537G>T | NP_001339675.1:p.Arg179= | |
| NM_001352747.2:c.-593G>T | NP_001339676.1:n.-593G>T | |
| NM_001352748.2:c.1047G>T | NP_001339677.1:p.Arg349= | |
| NM_005607.5:c.1113G>T | NP_005598.3:p.Arg371= | |
| NM_153831.4:c.1047G>T | NP_722560.1:p.Arg349= | |
| NR_148036.2:n.1326G>T | ||
| NR_148037.2:n.1441G>T | ||
| NR_148038.2:n.1159G>T | ||
| NR_148039.2:n.1051G>T | ||
| NM_001387584.1:c.708G>T | NP_001374513.1:p.Arg236= | |
| NM_001387585.1:c.1047G>T | NP_001374514.1:p.Arg349= | |
| NM_001387586.1:c.1047G>T | NP_001374515.1:p.Arg349= | |
| NM_001387587.1:c.1047G>T | NP_001374516.1:p.Arg349= | |
| NM_001387590.1:c.600G>T | NP_001374519.1:p.Arg200= | |
| NM_001387591.1:c.708G>T | NP_001374520.1:p.Arg236= | |
| NM_001387592.1:c.105G>T | NP_001374521.1:p.Arg35= | |
| NM_001387603.1:c.708G>T | NP_001374532.1:p.Arg236= | |
| NM_001387604.1:c.105G>T | NP_001374533.1:p.Arg35= | |
| NM_001387605.1:c.708G>T | NP_001374534.1:p.Arg236= | |
| NM_001387606.1:c.708G>T | NP_001374535.1:p.Arg236= | |
| NM_001387607.1:c.708G>T | NP_001374536.1:p.Arg236= | |
| NM_001387608.1:c.708G>T | NP_001374537.1:p.Arg236= | |
| NM_001387609.1:c.708G>T | NP_001374538.1:p.Arg236= | |
| NM_001387610.1:c.525G>T | NP_001374539.1:p.Arg175= | |
| NM_001387611.1:c.708G>T | NP_001374540.1:p.Arg236= | |
| NM_001387612.1:c.708G>T | NP_001374541.1:p.Arg236= | |
| NM_001387613.1:c.708G>T | NP_001374542.1:p.Arg236= | |
| NM_001387614.1:c.1047G>T | NP_001374543.1:p.Arg349= | |
| NM_001387615.1:c.939G>T | NP_001374544.1:p.Arg313= | |
| NM_001387616.1:c.105G>T | NP_001374545.1:p.Arg35= | |
| NM_001387617.1:c.105G>T | NP_001374546.1:p.Arg35= | |
| NM_001387618.1:c.708G>T | NP_001374547.1:p.Arg236= | |
| NM_001387619.1:c.939G>T | NP_001374548.1:p.Arg313= | |
| NM_001387620.1:c.708G>T | NP_001374549.1:p.Arg236= | |
| NM_001387621.1:c.105G>T | NP_001374550.1:p.Arg35= | |
| NM_001387622.1:c.1047G>T | NP_001374551.1:p.Arg349= | |
| NM_001387623.1:c.708G>T | NP_001374552.1:p.Arg236= | |
| NM_001387624.1:c.939G>T | NP_001374553.1:p.Arg313= | |
| NM_001387625.1:c.1047G>T | NP_001374554.1:p.Arg349= | |
| NM_001387627.1:c.1047G>T | NP_001374556.1:p.Arg349= | |
| NM_001387628.1:c.1047G>T | NP_001374557.1:p.Arg349= | |
| NM_001387629.1:c.105G>T | NP_001374558.1:p.Arg35= | |
| NM_001387630.1:c.525G>T | NP_001374559.1:p.Arg175= | |
| NM_001387631.1:c.939G>T | NP_001374560.1:p.Arg313= | |
| NM_001387632.1:c.1047G>T | NP_001374561.1:p.Arg349= | |
| NM_001387633.1:c.1047G>T | NP_001374562.1:p.Arg349= | |
| NM_001387634.1:c.1047G>T | NP_001374563.1:p.Arg349= | |
| NM_001387635.1:c.600G>T | NP_001374564.1:p.Arg200= | |
| NM_001387636.1:c.1047G>T | NP_001374565.1:p.Arg349= | |
| NM_001387637.1:c.1047G>T | NP_001374566.1:p.Arg349= | |
| NM_001387638.1:c.1047G>T | NP_001374567.1:p.Arg349= | |
| NM_001387639.1:c.1047G>T | NP_001374568.1:p.Arg349= | |
| NM_001387640.1:c.1047G>T | NP_001374569.1:p.Arg349= | |
| NM_001387641.1:c.1086G>T | NP_001374570.1:p.Arg362= | |
| NM_001387642.1:c.1047G>T | NP_001374571.1:p.Arg349= | |
| NM_001387643.1:c.1179G>T | NP_001374572.1:p.Arg393= | |
| NM_001387644.1:c.1086G>T | NP_001374573.1:p.Arg362= | |
| NM_001387645.1:c.1047G>T | NP_001374574.1:p.Arg349= | |
| NM_001387646.1:c.1179G>T | NP_001374575.1:p.Arg393= | |
| NM_001387647.1:c.1047G>T | NP_001374576.1:p.Arg349= | |
| NM_001387648.1:c.1179G>T | NP_001374577.1:p.Arg393= | |
| NM_001387649.1:c.1179G>T | NP_001374578.1:p.Arg393= | |
| NM_001387650.1:c.1179G>T | NP_001374579.1:p.Arg393= | |
| NM_001387652.1:c.708G>T | NP_001374581.1:p.Arg236= | |
| NM_001387653.1:c.939G>T | NP_001374582.1:p.Arg313= | |
| NM_001387654.1:c.708G>T | NP_001374583.1:p.Arg236= | |
| NM_001387655.1:c.1047G>T | NP_001374584.1:p.Arg349= | |
| NM_001387656.1:c.1047G>T | NP_001374585.1:p.Arg349= | |
| NM_001387657.1:c.1047G>T | NP_001374586.1:p.Arg349= | |
| NM_001387658.1:c.1047G>T | NP_001374587.1:p.Arg349= | |
| NM_001387659.1:c.1047G>T | NP_001374588.1:p.Arg349= | |
| NM_001387660.1:c.1179G>T | NP_001374589.1:p.Arg393= | |
| NM_001387661.1:c.1179G>T | NP_001374590.1:p.Arg393= | |
| NM_001387662.1:c.1179G>T | NP_001374591.1:p.Arg393= | |
| NR_170671.1:n.1070G>T | ||
| NR_170672.1:n.1237G>T | ||
| NR_170673.1:n.1237G>T |