SNP Links for Protein (Select 384551678) - SNP

Select item 14902963541.

rs1490296354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5489083 (GRCh38)
17:5392403 (GRCh37)
Canonical SPDI:: NC_000017.11:5489082:A:G
Gene:: MIS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5489083A>G, NC_000017.10:g.5392403A>G, XM_005256797.3:c.221A>G, XM_005256797.2:c.221A>G, XM_005256797.1:c.221A>G, NM_024039.3:c.221A>G, NM_024039.2:c.221A>G, XM_017025034.2:c.221A>G, XM_017025034.1:c.221A>G, XM_024450924.2:c.221A>G, XM_024450924.1:c.221A>G, NM_001258217.2:c.221A>G, NM_001258217.1:c.221A>G, NM_001258218.2:c.221A>G, NM_001258218.1:c.221A>G, XM_047436695.1:c.221A>G, XM_047436696.1:c.221A>G, NM_001258219.1:c.221A>G, NM_001258220.1:c.221A>G, XP_005256854.1:p.His74Arg, NP_076944.1:p.His74Arg, XP_016880523.1:p.His74Arg, XP_024306692.1:p.His74Arg, NP_001245146.1:p.His74Arg, NP_001245147.1:p.His74Arg, XP_047292651.1:p.His74Arg, XP_047292652.1:p.His74Arg, NP_001245148.1:p.His74Arg, NP_001245149.1:p.His74Arg

Select item 14880570392.

rs1488057039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5489354 (GRCh38)
17:5392674 (GRCh37)
Canonical SPDI:: NC_000017.11:5489353:T:C
Gene:: MIS12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5489354T>C, NC_000017.10:g.5392674T>C, XM_005256797.3:c.492T>C, XM_005256797.2:c.492T>C, XM_005256797.1:c.492T>C, NM_024039.3:c.492T>C, NM_024039.2:c.492T>C, XM_017025034.2:c.492T>C, XM_017025034.1:c.492T>C, XM_024450924.2:c.492T>C, XM_024450924.1:c.492T>C, NM_001258217.2:c.492T>C, NM_001258217.1:c.492T>C, NM_001258218.2:c.492T>C, NM_001258218.1:c.492T>C, XM_047436695.1:c.492T>C, XM_047436696.1:c.492T>C, NM_001258219.1:c.492T>C, NM_001258220.1:c.492T>C

Select item 14839871093.

rs1483987109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5489260 (GRCh38)
17:5392580 (GRCh37)
Canonical SPDI:: NC_000017.11:5489259:G:A
Gene:: MIS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.5489260G>A, NC_000017.10:g.5392580G>A, XM_005256797.3:c.398G>A, XM_005256797.2:c.398G>A, XM_005256797.1:c.398G>A, NM_024039.3:c.398G>A, NM_024039.2:c.398G>A, XM_017025034.2:c.398G>A, XM_017025034.1:c.398G>A, XM_024450924.2:c.398G>A, XM_024450924.1:c.398G>A, NM_001258217.2:c.398G>A, NM_001258217.1:c.398G>A, NM_001258218.2:c.398G>A, NM_001258218.1:c.398G>A, XM_047436695.1:c.398G>A, XM_047436696.1:c.398G>A, NM_001258219.1:c.398G>A, NM_001258220.1:c.398G>A, XP_005256854.1:p.Cys133Tyr, NP_076944.1:p.Cys133Tyr, XP_016880523.1:p.Cys133Tyr, XP_024306692.1:p.Cys133Tyr, NP_001245146.1:p.Cys133Tyr, NP_001245147.1:p.Cys133Tyr, XP_047292651.1:p.Cys133Tyr, XP_047292652.1:p.Cys133Tyr, NP_001245148.1:p.Cys133Tyr, NP_001245149.1:p.Cys133Tyr

Select item 14773045024.

rs1477304502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:5489008 (GRCh38)
17:5392328 (GRCh37)
Canonical SPDI:: NC_000017.11:5489007:G:T
Gene:: MIS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5489008G>T, NC_000017.10:g.5392328G>T, XM_005256797.3:c.146G>T, XM_005256797.2:c.146G>T, XM_005256797.1:c.146G>T, NM_024039.3:c.146G>T, NM_024039.2:c.146G>T, XM_017025034.2:c.146G>T, XM_017025034.1:c.146G>T, XM_024450924.2:c.146G>T, XM_024450924.1:c.146G>T, NM_001258217.2:c.146G>T, NM_001258217.1:c.146G>T, NM_001258218.2:c.146G>T, NM_001258218.1:c.146G>T, XM_047436695.1:c.146G>T, XM_047436696.1:c.146G>T, NM_001258219.1:c.146G>T, NM_001258220.1:c.146G>T, XP_005256854.1:p.Gly49Val, NP_076944.1:p.Gly49Val, XP_016880523.1:p.Gly49Val, XP_024306692.1:p.Gly49Val, NP_001245146.1:p.Gly49Val, NP_001245147.1:p.Gly49Val, XP_047292651.1:p.Gly49Val, XP_047292652.1:p.Gly49Val, NP_001245148.1:p.Gly49Val, NP_001245149.1:p.Gly49Val

Select item 14769068365.

rs1476906836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:5489464 (GRCh38)
17:5392784 (GRCh37)
Canonical SPDI:: NC_000017.11:5489463:G:A,NC_000017.11:5489463:G:T
Gene:: MIS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5489464G>A, NC_000017.11:g.5489464G>T, NC_000017.10:g.5392784G>A, NC_000017.10:g.5392784G>T, XM_005256797.3:c.602G>A, XM_005256797.3:c.602G>T, XM_005256797.2:c.602G>A, XM_005256797.2:c.602G>T, XM_005256797.1:c.602G>A, XM_005256797.1:c.602G>T, NM_024039.3:c.602G>A, NM_024039.3:c.602G>T, NM_024039.2:c.602G>A, NM_024039.2:c.602G>T, XM_017025034.2:c.602G>A, XM_017025034.2:c.602G>T, XM_017025034.1:c.602G>A, XM_017025034.1:c.602G>T, XM_024450924.2:c.602G>A, XM_024450924.2:c.602G>T, XM_024450924.1:c.602G>A, XM_024450924.1:c.602G>T, NM_001258217.2:c.602G>A, NM_001258217.2:c.602G>T, NM_001258217.1:c.602G>A, NM_001258217.1:c.602G>T, NM_001258218.2:c.602G>A, NM_001258218.2:c.602G>T, NM_001258218.1:c.602G>A, NM_001258218.1:c.602G>T, XM_047436695.1:c.602G>A, XM_047436695.1:c.602G>T, XM_047436696.1:c.602G>A, XM_047436696.1:c.602G>T, NM_001258219.1:c.602G>A, NM_001258219.1:c.602G>T, NM_001258220.1:c.602G>A, NM_001258220.1:c.602G>T, XP_005256854.1:p.Arg201Gln, XP_005256854.1:p.Arg201Leu, NP_076944.1:p.Arg201Gln, NP_076944.1:p.Arg201Leu, XP_016880523.1:p.Arg201Gln, XP_016880523.1:p.Arg201Leu, XP_024306692.1:p.Arg201Gln, XP_024306692.1:p.Arg201Leu, NP_001245146.1:p.Arg201Gln, NP_001245146.1:p.Arg201Leu, NP_001245147.1:p.Arg201Gln, NP_001245147.1:p.Arg201Leu, XP_047292651.1:p.Arg201Gln, XP_047292651.1:p.Arg201Leu, XP_047292652.1:p.Arg201Gln, XP_047292652.1:p.Arg201Leu, NP_001245148.1:p.Arg201Gln, NP_001245148.1:p.Arg201Leu, NP_001245149.1:p.Arg201Gln, NP_001245149.1:p.Arg201Leu

Select item 14660624416.

rs1466062441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:5489023 (GRCh38)
17:5392343 (GRCh37)
Canonical SPDI:: NC_000017.11:5489022:A:T
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
T=0.00046/8 (TOMMO)
HGVS:: NC_000017.11:g.5489023A>T, NC_000017.10:g.5392343A>T, XM_005256797.3:c.161A>T, XM_005256797.2:c.161A>T, XM_005256797.1:c.161A>T, NM_024039.3:c.161A>T, NM_024039.2:c.161A>T, XM_017025034.2:c.161A>T, XM_017025034.1:c.161A>T, XM_024450924.2:c.161A>T, XM_024450924.1:c.161A>T, NM_001258217.2:c.161A>T, NM_001258217.1:c.161A>T, NM_001258218.2:c.161A>T, NM_001258218.1:c.161A>T, XM_047436695.1:c.161A>T, XM_047436696.1:c.161A>T, NM_001258219.1:c.161A>T, NM_001258220.1:c.161A>T, XP_005256854.1:p.Asp54Val, NP_076944.1:p.Asp54Val, XP_016880523.1:p.Asp54Val, XP_024306692.1:p.Asp54Val, NP_001245146.1:p.Asp54Val, NP_001245147.1:p.Asp54Val, XP_047292651.1:p.Asp54Val, XP_047292652.1:p.Asp54Val, NP_001245148.1:p.Asp54Val, NP_001245149.1:p.Asp54Val

Select item 14594057347.

rs1459405734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:5489119 (GRCh38)
17:5392439 (GRCh37)
Canonical SPDI:: NC_000017.11:5489118:T:A
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.5489119T>A, NC_000017.10:g.5392439T>A, XM_005256797.3:c.257T>A, XM_005256797.2:c.257T>A, XM_005256797.1:c.257T>A, NM_024039.3:c.257T>A, NM_024039.2:c.257T>A, XM_017025034.2:c.257T>A, XM_017025034.1:c.257T>A, XM_024450924.2:c.257T>A, XM_024450924.1:c.257T>A, NM_001258217.2:c.257T>A, NM_001258217.1:c.257T>A, NM_001258218.2:c.257T>A, NM_001258218.1:c.257T>A, XM_047436695.1:c.257T>A, XM_047436696.1:c.257T>A, NM_001258219.1:c.257T>A, NM_001258220.1:c.257T>A, XP_005256854.1:p.Phe86Tyr, NP_076944.1:p.Phe86Tyr, XP_016880523.1:p.Phe86Tyr, XP_024306692.1:p.Phe86Tyr, NP_001245146.1:p.Phe86Tyr, NP_001245147.1:p.Phe86Tyr, XP_047292651.1:p.Phe86Tyr, XP_047292652.1:p.Phe86Tyr, NP_001245148.1:p.Phe86Tyr, NP_001245149.1:p.Phe86Tyr

Select item 14545321478.

rs1454532147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:5489226 (GRCh38)
17:5392546 (GRCh37)
Canonical SPDI:: NC_000017.11:5489225:G:C
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5489226G>C, NC_000017.10:g.5392546G>C, XM_005256797.3:c.364G>C, XM_005256797.2:c.364G>C, XM_005256797.1:c.364G>C, NM_024039.3:c.364G>C, NM_024039.2:c.364G>C, XM_017025034.2:c.364G>C, XM_017025034.1:c.364G>C, XM_024450924.2:c.364G>C, XM_024450924.1:c.364G>C, NM_001258217.2:c.364G>C, NM_001258217.1:c.364G>C, NM_001258218.2:c.364G>C, NM_001258218.1:c.364G>C, XM_047436695.1:c.364G>C, XM_047436696.1:c.364G>C, NM_001258219.1:c.364G>C, NM_001258220.1:c.364G>C, XP_005256854.1:p.Glu122Gln, NP_076944.1:p.Glu122Gln, XP_016880523.1:p.Glu122Gln, XP_024306692.1:p.Glu122Gln, NP_001245146.1:p.Glu122Gln, NP_001245147.1:p.Glu122Gln, XP_047292651.1:p.Glu122Gln, XP_047292652.1:p.Glu122Gln, NP_001245148.1:p.Glu122Gln, NP_001245149.1:p.Glu122Gln

Select item 14508687499.

rs1450868749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5488960 (GRCh38)
17:5392280 (GRCh37)
Canonical SPDI:: NC_000017.11:5488959:T:C
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.5488960T>C, NC_000017.10:g.5392280T>C, XM_005256797.3:c.98T>C, XM_005256797.2:c.98T>C, XM_005256797.1:c.98T>C, NM_024039.3:c.98T>C, NM_024039.2:c.98T>C, XM_017025034.2:c.98T>C, XM_017025034.1:c.98T>C, XM_024450924.2:c.98T>C, XM_024450924.1:c.98T>C, NM_001258217.2:c.98T>C, NM_001258217.1:c.98T>C, NM_001258218.2:c.98T>C, NM_001258218.1:c.98T>C, XM_047436695.1:c.98T>C, XM_047436696.1:c.98T>C, NM_001258219.1:c.98T>C, NM_001258220.1:c.98T>C, XP_005256854.1:p.Phe33Ser, NP_076944.1:p.Phe33Ser, XP_016880523.1:p.Phe33Ser, XP_024306692.1:p.Phe33Ser, NP_001245146.1:p.Phe33Ser, NP_001245147.1:p.Phe33Ser, XP_047292651.1:p.Phe33Ser, XP_047292652.1:p.Phe33Ser, NP_001245148.1:p.Phe33Ser, NP_001245149.1:p.Phe33Ser

Select item 145031736410.

rs1450317364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:5488984 (GRCh38)
17:5392304 (GRCh37)
Canonical SPDI:: NC_000017.11:5488983:A:G,NC_000017.11:5488983:A:T
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5488984A>G, NC_000017.11:g.5488984A>T, NC_000017.10:g.5392304A>G, NC_000017.10:g.5392304A>T, XM_005256797.3:c.122A>G, XM_005256797.3:c.122A>T, XM_005256797.2:c.122A>G, XM_005256797.2:c.122A>T, XM_005256797.1:c.122A>G, XM_005256797.1:c.122A>T, NM_024039.3:c.122A>G, NM_024039.3:c.122A>T, NM_024039.2:c.122A>G, NM_024039.2:c.122A>T, XM_017025034.2:c.122A>G, XM_017025034.2:c.122A>T, XM_017025034.1:c.122A>G, XM_017025034.1:c.122A>T, XM_024450924.2:c.122A>G, XM_024450924.2:c.122A>T, XM_024450924.1:c.122A>G, XM_024450924.1:c.122A>T, NM_001258217.2:c.122A>G, NM_001258217.2:c.122A>T, NM_001258217.1:c.122A>G, NM_001258217.1:c.122A>T, NM_001258218.2:c.122A>G, NM_001258218.2:c.122A>T, NM_001258218.1:c.122A>G, NM_001258218.1:c.122A>T, XM_047436695.1:c.122A>G, XM_047436695.1:c.122A>T, XM_047436696.1:c.122A>G, XM_047436696.1:c.122A>T, NM_001258219.1:c.122A>G, NM_001258219.1:c.122A>T, NM_001258220.1:c.122A>G, NM_001258220.1:c.122A>T, XP_005256854.1:p.Gln41Arg, XP_005256854.1:p.Gln41Leu, NP_076944.1:p.Gln41Arg, NP_076944.1:p.Gln41Leu, XP_016880523.1:p.Gln41Arg, XP_016880523.1:p.Gln41Leu, XP_024306692.1:p.Gln41Arg, XP_024306692.1:p.Gln41Leu, NP_001245146.1:p.Gln41Arg, NP_001245146.1:p.Gln41Leu, NP_001245147.1:p.Gln41Arg, NP_001245147.1:p.Gln41Leu, XP_047292651.1:p.Gln41Arg, XP_047292651.1:p.Gln41Leu, XP_047292652.1:p.Gln41Arg, XP_047292652.1:p.Gln41Leu, NP_001245148.1:p.Gln41Arg, NP_001245148.1:p.Gln41Leu, NP_001245149.1:p.Gln41Arg, NP_001245149.1:p.Gln41Leu

Select item 144594288211.

rs1445942882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:5488878 (GRCh38)
17:5392198 (GRCh37)
Canonical SPDI:: NC_000017.11:5488877:A:C,NC_000017.11:5488877:A:G
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.5488878A>C, NC_000017.11:g.5488878A>G, NC_000017.10:g.5392198A>C, NC_000017.10:g.5392198A>G, XM_005256797.3:c.16A>C, XM_005256797.3:c.16A>G, XM_005256797.2:c.16A>C, XM_005256797.2:c.16A>G, XM_005256797.1:c.16A>C, XM_005256797.1:c.16A>G, NM_024039.3:c.16A>C, NM_024039.3:c.16A>G, NM_024039.2:c.16A>C, NM_024039.2:c.16A>G, XM_017025034.2:c.16A>C, XM_017025034.2:c.16A>G, XM_017025034.1:c.16A>C, XM_017025034.1:c.16A>G, XM_024450924.2:c.16A>C, XM_024450924.2:c.16A>G, XM_024450924.1:c.16A>C, XM_024450924.1:c.16A>G, NM_001258217.2:c.16A>C, NM_001258217.2:c.16A>G, NM_001258217.1:c.16A>C, NM_001258217.1:c.16A>G, NM_001258218.2:c.16A>C, NM_001258218.2:c.16A>G, NM_001258218.1:c.16A>C, NM_001258218.1:c.16A>G, XM_047436695.1:c.16A>C, XM_047436695.1:c.16A>G, XM_047436696.1:c.16A>C, XM_047436696.1:c.16A>G, NM_001258219.1:c.16A>C, NM_001258219.1:c.16A>G, NM_001258220.1:c.16A>C, NM_001258220.1:c.16A>G, XP_005256854.1:p.Met6Leu, XP_005256854.1:p.Met6Val, NP_076944.1:p.Met6Leu, NP_076944.1:p.Met6Val, XP_016880523.1:p.Met6Leu, XP_016880523.1:p.Met6Val, XP_024306692.1:p.Met6Leu, XP_024306692.1:p.Met6Val, NP_001245146.1:p.Met6Leu, NP_001245146.1:p.Met6Val, NP_001245147.1:p.Met6Leu, NP_001245147.1:p.Met6Val, XP_047292651.1:p.Met6Leu, XP_047292651.1:p.Met6Val, XP_047292652.1:p.Met6Leu, XP_047292652.1:p.Met6Val, NP_001245148.1:p.Met6Leu, NP_001245148.1:p.Met6Val, NP_001245149.1:p.Met6Leu, NP_001245149.1:p.Met6Val

Select item 144314223812.

rs1443142238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5488918 (GRCh38)
17:5392238 (GRCh37)
Canonical SPDI:: NC_000017.11:5488917:C:T
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.5488918C>T, NC_000017.10:g.5392238C>T, XM_005256797.3:c.56C>T, XM_005256797.2:c.56C>T, XM_005256797.1:c.56C>T, NM_024039.3:c.56C>T, NM_024039.2:c.56C>T, XM_017025034.2:c.56C>T, XM_017025034.1:c.56C>T, XM_024450924.2:c.56C>T, XM_024450924.1:c.56C>T, NM_001258217.2:c.56C>T, NM_001258217.1:c.56C>T, NM_001258218.2:c.56C>T, NM_001258218.1:c.56C>T, XM_047436695.1:c.56C>T, XM_047436696.1:c.56C>T, NM_001258219.1:c.56C>T, NM_001258220.1:c.56C>T, XP_005256854.1:p.Thr19Met, NP_076944.1:p.Thr19Met, XP_016880523.1:p.Thr19Met, XP_024306692.1:p.Thr19Met, NP_001245146.1:p.Thr19Met, NP_001245147.1:p.Thr19Met, XP_047292651.1:p.Thr19Met, XP_047292652.1:p.Thr19Met, NP_001245148.1:p.Thr19Met, NP_001245149.1:p.Thr19Met

Select item 143764111413.

rs1437641114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5489223 (GRCh38)
17:5392543 (GRCh37)
Canonical SPDI:: NC_000017.11:5489222:A:G
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000141/5 (ALFA)
G=0.000032/8 (GnomAD_exomes)
G=0.00005/7 (GnomAD)
G=0.000132/35 (TOPMED)
HGVS:: NC_000017.11:g.5489223A>G, NC_000017.10:g.5392543A>G, XM_005256797.3:c.361A>G, XM_005256797.2:c.361A>G, XM_005256797.1:c.361A>G, NM_024039.3:c.361A>G, NM_024039.2:c.361A>G, XM_017025034.2:c.361A>G, XM_017025034.1:c.361A>G, XM_024450924.2:c.361A>G, XM_024450924.1:c.361A>G, NM_001258217.2:c.361A>G, NM_001258217.1:c.361A>G, NM_001258218.2:c.361A>G, NM_001258218.1:c.361A>G, XM_047436695.1:c.361A>G, XM_047436696.1:c.361A>G, NM_001258219.1:c.361A>G, NM_001258220.1:c.361A>G, XP_005256854.1:p.Ile121Val, NP_076944.1:p.Ile121Val, XP_016880523.1:p.Ile121Val, XP_024306692.1:p.Ile121Val, NP_001245146.1:p.Ile121Val, NP_001245147.1:p.Ile121Val, XP_047292651.1:p.Ile121Val, XP_047292652.1:p.Ile121Val, NP_001245148.1:p.Ile121Val, NP_001245149.1:p.Ile121Val

Select item 143619325714.

rs1436193257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5488994 (GRCh38)
17:5392314 (GRCh37)
Canonical SPDI:: NC_000017.11:5488993:G:A
Gene:: MIS12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5488994G>A, NC_000017.10:g.5392314G>A, XM_005256797.3:c.132G>A, XM_005256797.2:c.132G>A, XM_005256797.1:c.132G>A, NM_024039.3:c.132G>A, NM_024039.2:c.132G>A, XM_017025034.2:c.132G>A, XM_017025034.1:c.132G>A, XM_024450924.2:c.132G>A, XM_024450924.1:c.132G>A, NM_001258217.2:c.132G>A, NM_001258217.1:c.132G>A, NM_001258218.2:c.132G>A, NM_001258218.1:c.132G>A, XM_047436695.1:c.132G>A, XM_047436696.1:c.132G>A, NM_001258219.1:c.132G>A, NM_001258220.1:c.132G>A

Select item 143308036715.

rs1433080367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5488916 (GRCh38)
17:5392236 (GRCh37)
Canonical SPDI:: NC_000017.11:5488915:A:G
Gene:: MIS12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.5488916A>G, NC_000017.10:g.5392236A>G, XM_005256797.3:c.54A>G, XM_005256797.2:c.54A>G, XM_005256797.1:c.54A>G, NM_024039.3:c.54A>G, NM_024039.2:c.54A>G, XM_017025034.2:c.54A>G, XM_017025034.1:c.54A>G, XM_024450924.2:c.54A>G, XM_024450924.1:c.54A>G, NM_001258217.2:c.54A>G, NM_001258217.1:c.54A>G, NM_001258218.2:c.54A>G, NM_001258218.1:c.54A>G, XM_047436695.1:c.54A>G, XM_047436696.1:c.54A>G, NM_001258219.1:c.54A>G, NM_001258220.1:c.54A>G

Select item 142578308716.

rs1425783087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:5489013 (GRCh38)
17:5392333 (GRCh37)
Canonical SPDI:: NC_000017.11:5489012:C:G
Gene:: MIS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.5489013C>G, NC_000017.10:g.5392333C>G, XM_005256797.3:c.151C>G, XM_005256797.2:c.151C>G, XM_005256797.1:c.151C>G, NM_024039.3:c.151C>G, NM_024039.2:c.151C>G, XM_017025034.2:c.151C>G, XM_017025034.1:c.151C>G, XM_024450924.2:c.151C>G, XM_024450924.1:c.151C>G, NM_001258217.2:c.151C>G, NM_001258217.1:c.151C>G, NM_001258218.2:c.151C>G, NM_001258218.1:c.151C>G, XM_047436695.1:c.151C>G, XM_047436696.1:c.151C>G, NM_001258219.1:c.151C>G, NM_001258220.1:c.151C>G, XP_005256854.1:p.Pro51Ala, NP_076944.1:p.Pro51Ala, XP_016880523.1:p.Pro51Ala, XP_024306692.1:p.Pro51Ala, NP_001245146.1:p.Pro51Ala, NP_001245147.1:p.Pro51Ala, XP_047292651.1:p.Pro51Ala, XP_047292652.1:p.Pro51Ala, NP_001245148.1:p.Pro51Ala, NP_001245149.1:p.Pro51Ala

Select item 142117467317.

rs1421174673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5489033 (GRCh38)
17:5392353 (GRCh37)
Canonical SPDI:: NC_000017.11:5489032:A:G
Gene:: MIS12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5489033A>G, NC_000017.10:g.5392353A>G, XM_005256797.3:c.171A>G, XM_005256797.2:c.171A>G, XM_005256797.1:c.171A>G, NM_024039.3:c.171A>G, NM_024039.2:c.171A>G, XM_017025034.2:c.171A>G, XM_017025034.1:c.171A>G, XM_024450924.2:c.171A>G, XM_024450924.1:c.171A>G, NM_001258217.2:c.171A>G, NM_001258217.1:c.171A>G, NM_001258218.2:c.171A>G, NM_001258218.1:c.171A>G, XM_047436695.1:c.171A>G, XM_047436696.1:c.171A>G, NM_001258219.1:c.171A>G, NM_001258220.1:c.171A>G

Select item 141214614418.

rs1412146144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5489288 (GRCh38)
17:5392608 (GRCh37)
Canonical SPDI:: NC_000017.11:5489287:A:G
Gene:: MIS12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5489288A>G, NC_000017.10:g.5392608A>G, XM_005256797.3:c.426A>G, XM_005256797.2:c.426A>G, XM_005256797.1:c.426A>G, NM_024039.3:c.426A>G, NM_024039.2:c.426A>G, XM_017025034.2:c.426A>G, XM_017025034.1:c.426A>G, XM_024450924.2:c.426A>G, XM_024450924.1:c.426A>G, NM_001258217.2:c.426A>G, NM_001258217.1:c.426A>G, NM_001258218.2:c.426A>G, NM_001258218.1:c.426A>G, XM_047436695.1:c.426A>G, XM_047436696.1:c.426A>G, NM_001258219.1:c.426A>G, NM_001258220.1:c.426A>G

Select item 140518839919.

rs1405188399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:5489426 (GRCh38)
17:5392746 (GRCh37)
Canonical SPDI:: NC_000017.11:5489425:A:G
Gene:: MIS12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.5489426A>G, NC_000017.10:g.5392746A>G, XM_005256797.3:c.564A>G, XM_005256797.2:c.564A>G, XM_005256797.1:c.564A>G, NM_024039.3:c.564A>G, NM_024039.2:c.564A>G, XM_017025034.2:c.564A>G, XM_017025034.1:c.564A>G, XM_024450924.2:c.564A>G, XM_024450924.1:c.564A>G, NM_001258217.2:c.564A>G, NM_001258217.1:c.564A>G, NM_001258218.2:c.564A>G, NM_001258218.1:c.564A>G, XM_047436695.1:c.564A>G, XM_047436696.1:c.564A>G, NM_001258219.1:c.564A>G, NM_001258220.1:c.564A>G

Select item 140017807620.

rs1400178076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:5489230 (GRCh38)
17:5392550 (GRCh37)
Canonical SPDI:: NC_000017.11:5489229:A:C,NC_000017.11:5489229:A:G
Gene:: MIS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.5489230A>C, NC_000017.11:g.5489230A>G, NC_000017.10:g.5392550A>C, NC_000017.10:g.5392550A>G, XM_005256797.3:c.368A>C, XM_005256797.3:c.368A>G, XM_005256797.2:c.368A>C, XM_005256797.2:c.368A>G, XM_005256797.1:c.368A>C, XM_005256797.1:c.368A>G, NM_024039.3:c.368A>C, NM_024039.3:c.368A>G, NM_024039.2:c.368A>C, NM_024039.2:c.368A>G, XM_017025034.2:c.368A>C, XM_017025034.2:c.368A>G, XM_017025034.1:c.368A>C, XM_017025034.1:c.368A>G, XM_024450924.2:c.368A>C, XM_024450924.2:c.368A>G, XM_024450924.1:c.368A>C, XM_024450924.1:c.368A>G, NM_001258217.2:c.368A>C, NM_001258217.2:c.368A>G, NM_001258217.1:c.368A>C, NM_001258217.1:c.368A>G, NM_001258218.2:c.368A>C, NM_001258218.2:c.368A>G, NM_001258218.1:c.368A>C, NM_001258218.1:c.368A>G, XM_047436695.1:c.368A>C, XM_047436695.1:c.368A>G, XM_047436696.1:c.368A>C, XM_047436696.1:c.368A>G, NM_001258219.1:c.368A>C, NM_001258219.1:c.368A>G, NM_001258220.1:c.368A>C, NM_001258220.1:c.368A>G, XP_005256854.1:p.Gln123Pro, XP_005256854.1:p.Gln123Arg, NP_076944.1:p.Gln123Pro, NP_076944.1:p.Gln123Arg, XP_016880523.1:p.Gln123Pro, XP_016880523.1:p.Gln123Arg, XP_024306692.1:p.Gln123Pro, XP_024306692.1:p.Gln123Arg, NP_001245146.1:p.Gln123Pro, NP_001245146.1:p.Gln123Arg, NP_001245147.1:p.Gln123Pro, NP_001245147.1:p.Gln123Arg, XP_047292651.1:p.Gln123Pro, XP_047292651.1:p.Gln123Arg, XP_047292652.1:p.Gln123Pro, XP_047292652.1:p.Gln123Arg, NP_001245148.1:p.Gln123Pro, NP_001245148.1:p.Gln123Arg, NP_001245149.1:p.Gln123Pro, NP_001245149.1:p.Gln123Arg

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 187

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