SNP Links for Protein (Select 1034632275) - SNP

Links from Protein

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Select item 14892107931.

rs1489210793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:40516026 (GRCh38)
3:40557517 (GRCh37)
Canonical SPDI:: NC_000003.12:40516025:A:C
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.40516026A>C, NC_000003.11:g.40557517A>C, XM_005265011.5:c.432A>C, XM_005265011.4:c.432A>C, XM_005265011.3:c.432A>C, XM_005265011.2:c.432A>C, XM_005265011.1:c.432A>C, XM_005265012.5:c.432A>C, XM_005265012.4:c.432A>C, XM_005265012.3:c.432A>C, XM_005265012.2:c.432A>C, XM_005265012.1:c.432A>C, NM_175888.4:c.432A>C, NM_175888.3:c.432A>C, XM_017006064.3:c.567A>C, XM_017006064.2:c.567A>C, XM_017006064.1:c.567A>C, XM_017006065.3:c.318A>C, XM_017006065.2:c.318A>C, XM_017006065.1:c.318A>C, NM_001256168.2:c.90A>C, NM_001256168.1:c.90A>C, NM_001256167.2:c.90A>C, NM_001256167.1:c.90A>C, XM_047447873.1:c.567A>C, XM_047447874.1:c.318A>C, XM_047447875.1:c.315A>C, NR_024114.1:n.340A>C

Select item 14890849202.

rs1489084920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:40516589 (GRCh38)
3:40558080 (GRCh37)
Canonical SPDI:: NC_000003.12:40516588:G:A
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40516589G>A, NC_000003.11:g.40558080G>A, XM_005265011.5:c.995G>A, XM_005265011.4:c.995G>A, XM_005265011.3:c.995G>A, XM_005265011.2:c.995G>A, XM_005265011.1:c.995G>A, XM_005265012.5:c.995G>A, XM_005265012.4:c.995G>A, XM_005265012.3:c.995G>A, XM_005265012.2:c.995G>A, XM_005265012.1:c.995G>A, NM_175888.4:c.995G>A, NM_175888.3:c.995G>A, XM_017006064.3:c.1130G>A, XM_017006064.2:c.1130G>A, XM_017006064.1:c.1130G>A, XM_017006065.3:c.881G>A, XM_017006065.2:c.881G>A, XM_017006065.1:c.881G>A, NM_001256168.2:c.653G>A, NM_001256168.1:c.653G>A, NM_001256167.2:c.653G>A, NM_001256167.1:c.653G>A, XM_047447873.1:c.1130G>A, XM_047447874.1:c.881G>A, XM_047447875.1:c.878G>A, NR_024114.1:n.903G>A, XP_005265068.1:p.Gly332Glu, XP_005265069.1:p.Gly332Glu, NP_787084.1:p.Gly332Glu, XP_016861553.1:p.Gly377Glu, XP_016861554.1:p.Gly294Glu, NP_001243097.1:p.Gly218Glu, NP_001243096.1:p.Gly218Glu, XP_047303829.1:p.Gly377Glu, XP_047303830.1:p.Gly294Glu, XP_047303831.1:p.Gly293Glu

Select item 14842737833.

rs1484273783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40516727 (GRCh38)
3:40558218 (GRCh37)
Canonical SPDI:: NC_000003.12:40516726:C:T
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.40516727C>T, NC_000003.11:g.40558218C>T, XM_005265011.5:c.1133C>T, XM_005265011.4:c.1133C>T, XM_005265011.3:c.1133C>T, XM_005265011.2:c.1133C>T, XM_005265011.1:c.1133C>T, XM_005265012.5:c.1133C>T, XM_005265012.4:c.1133C>T, XM_005265012.3:c.1133C>T, XM_005265012.2:c.1133C>T, XM_005265012.1:c.1133C>T, NM_175888.4:c.1133C>T, NM_175888.3:c.1133C>T, XM_017006064.3:c.1268C>T, XM_017006064.2:c.1268C>T, XM_017006064.1:c.1268C>T, XM_017006065.3:c.1019C>T, XM_017006065.2:c.1019C>T, XM_017006065.1:c.1019C>T, NM_001256168.2:c.791C>T, NM_001256168.1:c.791C>T, NM_001256167.2:c.791C>T, NM_001256167.1:c.791C>T, XM_047447873.1:c.1268C>T, XM_047447874.1:c.1019C>T, XM_047447875.1:c.1016C>T, NR_024114.1:n.1041C>T, XP_005265068.1:p.Thr378Ile, XP_005265069.1:p.Thr378Ile, NP_787084.1:p.Thr378Ile, XP_016861553.1:p.Thr423Ile, XP_016861554.1:p.Thr340Ile, NP_001243097.1:p.Thr264Ile, NP_001243096.1:p.Thr264Ile, XP_047303829.1:p.Thr423Ile, XP_047303830.1:p.Thr340Ile, XP_047303831.1:p.Thr339Ile

Select item 14842189944.

rs1484218994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40516655 (GRCh38)
3:40558146 (GRCh37)
Canonical SPDI:: NC_000003.12:40516654:A:G
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40516655A>G, NC_000003.11:g.40558146A>G, XM_005265011.5:c.1061A>G, XM_005265011.4:c.1061A>G, XM_005265011.3:c.1061A>G, XM_005265011.2:c.1061A>G, XM_005265011.1:c.1061A>G, XM_005265012.5:c.1061A>G, XM_005265012.4:c.1061A>G, XM_005265012.3:c.1061A>G, XM_005265012.2:c.1061A>G, XM_005265012.1:c.1061A>G, NM_175888.4:c.1061A>G, NM_175888.3:c.1061A>G, XM_017006064.3:c.1196A>G, XM_017006064.2:c.1196A>G, XM_017006064.1:c.1196A>G, XM_017006065.3:c.947A>G, XM_017006065.2:c.947A>G, XM_017006065.1:c.947A>G, NM_001256168.2:c.719A>G, NM_001256168.1:c.719A>G, NM_001256167.2:c.719A>G, NM_001256167.1:c.719A>G, XM_047447873.1:c.1196A>G, XM_047447874.1:c.947A>G, XM_047447875.1:c.944A>G, NR_024114.1:n.969A>G, XP_005265068.1:p.His354Arg, XP_005265069.1:p.His354Arg, NP_787084.1:p.His354Arg, XP_016861553.1:p.His399Arg, XP_016861554.1:p.His316Arg, NP_001243097.1:p.His240Arg, NP_001243096.1:p.His240Arg, XP_047303829.1:p.His399Arg, XP_047303830.1:p.His316Arg, XP_047303831.1:p.His315Arg

Select item 14775536275.

rs1477553627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:40516218 (GRCh38)
3:40557709 (GRCh37)
Canonical SPDI:: NC_000003.12:40516217:G:A
Gene:: ZNF620 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.40516218G>A, NC_000003.11:g.40557709G>A, XM_005265011.5:c.624G>A, XM_005265011.4:c.624G>A, XM_005265011.3:c.624G>A, XM_005265011.2:c.624G>A, XM_005265011.1:c.624G>A, XM_005265012.5:c.624G>A, XM_005265012.4:c.624G>A, XM_005265012.3:c.624G>A, XM_005265012.2:c.624G>A, XM_005265012.1:c.624G>A, NM_175888.4:c.624G>A, NM_175888.3:c.624G>A, XM_017006064.3:c.759G>A, XM_017006064.2:c.759G>A, XM_017006064.1:c.759G>A, XM_017006065.3:c.510G>A, XM_017006065.2:c.510G>A, XM_017006065.1:c.510G>A, NM_001256168.2:c.282G>A, NM_001256168.1:c.282G>A, NM_001256167.2:c.282G>A, NM_001256167.1:c.282G>A, XM_047447873.1:c.759G>A, XM_047447874.1:c.510G>A, XM_047447875.1:c.507G>A, NR_024114.1:n.532G>A, XP_005265068.1:p.Met208Ile, XP_005265069.1:p.Met208Ile, NP_787084.1:p.Met208Ile, XP_016861553.1:p.Met253Ile, XP_016861554.1:p.Met170Ile, NP_001243097.1:p.Met94Ile, NP_001243096.1:p.Met94Ile, XP_047303829.1:p.Met253Ile, XP_047303830.1:p.Met170Ile, XP_047303831.1:p.Met169Ile

Select item 14758347476.

rs1475834747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40516159 (GRCh38)
3:40557650 (GRCh37)
Canonical SPDI:: NC_000003.12:40516158:A:G
Gene:: ZNF620 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40516159A>G, NC_000003.11:g.40557650A>G, XM_005265011.5:c.565A>G, XM_005265011.4:c.565A>G, XM_005265011.3:c.565A>G, XM_005265011.2:c.565A>G, XM_005265011.1:c.565A>G, XM_005265012.5:c.565A>G, XM_005265012.4:c.565A>G, XM_005265012.3:c.565A>G, XM_005265012.2:c.565A>G, XM_005265012.1:c.565A>G, NM_175888.4:c.565A>G, NM_175888.3:c.565A>G, XM_017006064.3:c.700A>G, XM_017006064.2:c.700A>G, XM_017006064.1:c.700A>G, XM_017006065.3:c.451A>G, XM_017006065.2:c.451A>G, XM_017006065.1:c.451A>G, NM_001256168.2:c.223A>G, NM_001256168.1:c.223A>G, NM_001256167.2:c.223A>G, NM_001256167.1:c.223A>G, XM_047447873.1:c.700A>G, XM_047447874.1:c.451A>G, XM_047447875.1:c.448A>G, NR_024114.1:n.473A>G, XP_005265068.1:p.Asn189Asp, XP_005265069.1:p.Asn189Asp, NP_787084.1:p.Asn189Asp, XP_016861553.1:p.Asn234Asp, XP_016861554.1:p.Asn151Asp, NP_001243097.1:p.Asn75Asp, NP_001243096.1:p.Asn75Asp, XP_047303829.1:p.Asn234Asp, XP_047303830.1:p.Asn151Asp, XP_047303831.1:p.Asn150Asp

Select item 14730475507.

rs1473047550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40516308 (GRCh38)
3:40557799 (GRCh37)
Canonical SPDI:: NC_000003.12:40516307:A:G
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40516308A>G, NC_000003.11:g.40557799A>G, XM_005265011.5:c.714A>G, XM_005265011.4:c.714A>G, XM_005265011.3:c.714A>G, XM_005265011.2:c.714A>G, XM_005265011.1:c.714A>G, XM_005265012.5:c.714A>G, XM_005265012.4:c.714A>G, XM_005265012.3:c.714A>G, XM_005265012.2:c.714A>G, XM_005265012.1:c.714A>G, NM_175888.4:c.714A>G, NM_175888.3:c.714A>G, XM_017006064.3:c.849A>G, XM_017006064.2:c.849A>G, XM_017006064.1:c.849A>G, XM_017006065.3:c.600A>G, XM_017006065.2:c.600A>G, XM_017006065.1:c.600A>G, NM_001256168.2:c.372A>G, NM_001256168.1:c.372A>G, NM_001256167.2:c.372A>G, NM_001256167.1:c.372A>G, XM_047447873.1:c.849A>G, XM_047447874.1:c.600A>G, XM_047447875.1:c.597A>G, NR_024114.1:n.622A>G

Select item 14721240138.

rs1472124013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40516330 (GRCh38)
3:40557821 (GRCh37)
Canonical SPDI:: NC_000003.12:40516329:C:T
Gene:: ZNF620 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40516330C>T, NC_000003.11:g.40557821C>T, XM_005265011.5:c.736C>T, XM_005265011.4:c.736C>T, XM_005265011.3:c.736C>T, XM_005265011.2:c.736C>T, XM_005265011.1:c.736C>T, XM_005265012.5:c.736C>T, XM_005265012.4:c.736C>T, XM_005265012.3:c.736C>T, XM_005265012.2:c.736C>T, XM_005265012.1:c.736C>T, NM_175888.4:c.736C>T, NM_175888.3:c.736C>T, XM_017006064.3:c.871C>T, XM_017006064.2:c.871C>T, XM_017006064.1:c.871C>T, XM_017006065.3:c.622C>T, XM_017006065.2:c.622C>T, XM_017006065.1:c.622C>T, NM_001256168.2:c.394C>T, NM_001256168.1:c.394C>T, NM_001256167.2:c.394C>T, NM_001256167.1:c.394C>T, XM_047447873.1:c.871C>T, XM_047447874.1:c.622C>T, XM_047447875.1:c.619C>T, NR_024114.1:n.644C>T, XP_005265068.1:p.His246Tyr, XP_005265069.1:p.His246Tyr, NP_787084.1:p.His246Tyr, XP_016861553.1:p.His291Tyr, XP_016861554.1:p.His208Tyr, NP_001243097.1:p.His132Tyr, NP_001243096.1:p.His132Tyr, XP_047303829.1:p.His291Tyr, XP_047303830.1:p.His208Tyr, XP_047303831.1:p.His207Tyr

Select item 14672788109.

rs1467278810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:40516495 (GRCh38)
3:40557986 (GRCh37)
Canonical SPDI:: NC_000003.12:40516494:T:C
Gene:: ZNF620 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40516495T>C, NC_000003.11:g.40557986T>C, XM_005265011.5:c.901T>C, XM_005265011.4:c.901T>C, XM_005265011.3:c.901T>C, XM_005265011.2:c.901T>C, XM_005265011.1:c.901T>C, XM_005265012.5:c.901T>C, XM_005265012.4:c.901T>C, XM_005265012.3:c.901T>C, XM_005265012.2:c.901T>C, XM_005265012.1:c.901T>C, NM_175888.4:c.901T>C, NM_175888.3:c.901T>C, XM_017006064.3:c.1036T>C, XM_017006064.2:c.1036T>C, XM_017006064.1:c.1036T>C, XM_017006065.3:c.787T>C, XM_017006065.2:c.787T>C, XM_017006065.1:c.787T>C, NM_001256168.2:c.559T>C, NM_001256168.1:c.559T>C, NM_001256167.2:c.559T>C, NM_001256167.1:c.559T>C, XM_047447873.1:c.1036T>C, XM_047447874.1:c.787T>C, XM_047447875.1:c.784T>C, NR_024114.1:n.809T>C, XP_005265068.1:p.Phe301Leu, XP_005265069.1:p.Phe301Leu, NP_787084.1:p.Phe301Leu, XP_016861553.1:p.Phe346Leu, XP_016861554.1:p.Phe263Leu, NP_001243097.1:p.Phe187Leu, NP_001243096.1:p.Phe187Leu, XP_047303829.1:p.Phe346Leu, XP_047303830.1:p.Phe263Leu, XP_047303831.1:p.Phe262Leu

Select item 146140700210.

rs1461407002 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:40516778 (GRCh38)
3:40558269 (GRCh37)
Canonical SPDI:: NC_000003.12:40516776:AAA:A
Gene:: ZNF620 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000024/6 (GnomAD_exomes)
-=0.000057/15 (TOPMED)
HGVS:: NC_000003.12:g.40516778_40516779del, NC_000003.11:g.40558269_40558270del, XM_005265011.5:c.1184_1185del, XM_005265011.4:c.1184_1185del, XM_005265011.3:c.1184_1185del, XM_005265011.2:c.1184_1185del, XM_005265011.1:c.1184_1185del, XM_005265012.5:c.1184_1185del, XM_005265012.4:c.1184_1185del, XM_005265012.3:c.1184_1185del, XM_005265012.2:c.1184_1185del, XM_005265012.1:c.1184_1185del, NM_175888.4:c.1184_1185del, NM_175888.3:c.1184_1185del, XM_017006064.3:c.1319_1320del, XM_017006064.2:c.1319_1320del, XM_017006064.1:c.1319_1320del, XM_017006065.3:c.1070_1071del, XM_017006065.2:c.1070_1071del, XM_017006065.1:c.1070_1071del, NM_001256168.2:c.842_843del, NM_001256168.1:c.842_843del, NM_001256167.2:c.842_843del, NM_001256167.1:c.842_843del, XM_047447873.1:c.1319_1320del, XM_047447874.1:c.1070_1071del, XM_047447875.1:c.1067_1068del, NR_024114.1:n.1092_1093del, XP_005265068.1:p.Lys395fs, XP_005265069.1:p.Lys395fs, NP_787084.1:p.Lys395fs, XP_016861553.1:p.Lys440fs, XP_016861554.1:p.Lys357fs, NP_001243097.1:p.Lys281fs, NP_001243096.1:p.Lys281fs, XP_047303829.1:p.Lys440fs, XP_047303830.1:p.Lys357fs, XP_047303831.1:p.Lys356fs

Select item 146000577311.

rs1460005773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:40516473 (GRCh38)
3:40557964 (GRCh37)
Canonical SPDI:: NC_000003.12:40516472:T:C
Gene:: ZNF620 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40516473T>C, NC_000003.11:g.40557964T>C, XM_005265011.5:c.879T>C, XM_005265011.4:c.879T>C, XM_005265011.3:c.879T>C, XM_005265011.2:c.879T>C, XM_005265011.1:c.879T>C, XM_005265012.5:c.879T>C, XM_005265012.4:c.879T>C, XM_005265012.3:c.879T>C, XM_005265012.2:c.879T>C, XM_005265012.1:c.879T>C, NM_175888.4:c.879T>C, NM_175888.3:c.879T>C, XM_017006064.3:c.1014T>C, XM_017006064.2:c.1014T>C, XM_017006064.1:c.1014T>C, XM_017006065.3:c.765T>C, XM_017006065.2:c.765T>C, XM_017006065.1:c.765T>C, NM_001256168.2:c.537T>C, NM_001256168.1:c.537T>C, NM_001256167.2:c.537T>C, NM_001256167.1:c.537T>C, XM_047447873.1:c.1014T>C, XM_047447874.1:c.765T>C, XM_047447875.1:c.762T>C, NR_024114.1:n.787T>C

Select item 145848028012.

rs1458480280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40515927 (GRCh38)
3:40557418 (GRCh37)
Canonical SPDI:: NC_000003.12:40515926:C:T
Gene:: ZNF620 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.40515927C>T, NC_000003.11:g.40557418C>T, XM_005265011.5:c.333C>T, XM_005265011.4:c.333C>T, XM_005265011.3:c.333C>T, XM_005265011.2:c.333C>T, XM_005265011.1:c.333C>T, XM_005265012.5:c.333C>T, XM_005265012.4:c.333C>T, XM_005265012.3:c.333C>T, XM_005265012.2:c.333C>T, XM_005265012.1:c.333C>T, NM_175888.4:c.333C>T, NM_175888.3:c.333C>T, XM_017006064.3:c.468C>T, XM_017006064.2:c.468C>T, XM_017006064.1:c.468C>T, XM_017006065.3:c.219C>T, XM_017006065.2:c.219C>T, XM_017006065.1:c.219C>T, NM_001256168.2:c.-10C>T, NM_001256168.1:c.-10C>T, NM_001256167.2:c.-10C>T, NM_001256167.1:c.-10C>T, XM_047447873.1:c.468C>T, XM_047447874.1:c.219C>T, XM_047447875.1:c.216C>T, NR_024114.1:n.241C>T

Select item 145207139213.

rs1452071392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:40516829 (GRCh38)
3:40558320 (GRCh37)
Canonical SPDI:: NC_000003.12:40516828:A:C
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40516829A>C, NC_000003.11:g.40558320A>C, XM_005265011.5:c.1235A>C, XM_005265011.4:c.1235A>C, XM_005265011.3:c.1235A>C, XM_005265011.2:c.1235A>C, XM_005265011.1:c.1235A>C, XM_005265012.5:c.1235A>C, XM_005265012.4:c.1235A>C, XM_005265012.3:c.1235A>C, XM_005265012.2:c.1235A>C, XM_005265012.1:c.1235A>C, NM_175888.4:c.1235A>C, NM_175888.3:c.1235A>C, XM_017006064.3:c.1370A>C, XM_017006064.2:c.1370A>C, XM_017006064.1:c.1370A>C, XM_017006065.3:c.1121A>C, XM_017006065.2:c.1121A>C, XM_017006065.1:c.1121A>C, NM_001256168.2:c.893A>C, NM_001256168.1:c.893A>C, NM_001256167.2:c.893A>C, NM_001256167.1:c.893A>C, XM_047447873.1:c.1370A>C, XM_047447874.1:c.1121A>C, XM_047447875.1:c.1118A>C, NR_024114.1:n.1143A>C, XP_005265068.1:p.Lys412Thr, XP_005265069.1:p.Lys412Thr, NP_787084.1:p.Lys412Thr, XP_016861553.1:p.Lys457Thr, XP_016861554.1:p.Lys374Thr, NP_001243097.1:p.Lys298Thr, NP_001243096.1:p.Lys298Thr, XP_047303829.1:p.Lys457Thr, XP_047303830.1:p.Lys374Thr, XP_047303831.1:p.Lys373Thr

Select item 145124531614.

rs1451245316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:40516795 (GRCh38)
3:40558286 (GRCh37)
Canonical SPDI:: NC_000003.12:40516794:T:C
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40516795T>C, NC_000003.11:g.40558286T>C, XM_005265011.5:c.1201T>C, XM_005265011.4:c.1201T>C, XM_005265011.3:c.1201T>C, XM_005265011.2:c.1201T>C, XM_005265011.1:c.1201T>C, XM_005265012.5:c.1201T>C, XM_005265012.4:c.1201T>C, XM_005265012.3:c.1201T>C, XM_005265012.2:c.1201T>C, XM_005265012.1:c.1201T>C, NM_175888.4:c.1201T>C, NM_175888.3:c.1201T>C, XM_017006064.3:c.1336T>C, XM_017006064.2:c.1336T>C, XM_017006064.1:c.1336T>C, XM_017006065.3:c.1087T>C, XM_017006065.2:c.1087T>C, XM_017006065.1:c.1087T>C, NM_001256168.2:c.859T>C, NM_001256168.1:c.859T>C, NM_001256167.2:c.859T>C, NM_001256167.1:c.859T>C, XM_047447873.1:c.1336T>C, XM_047447874.1:c.1087T>C, XM_047447875.1:c.1084T>C, NR_024114.1:n.1109T>C, XP_005265068.1:p.Phe401Leu, XP_005265069.1:p.Phe401Leu, NP_787084.1:p.Phe401Leu, XP_016861553.1:p.Phe446Leu, XP_016861554.1:p.Phe363Leu, NP_001243097.1:p.Phe287Leu, NP_001243096.1:p.Phe287Leu, XP_047303829.1:p.Phe446Leu, XP_047303830.1:p.Phe363Leu, XP_047303831.1:p.Phe362Leu

Select item 144656005515.

rs1446560055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:40516602 (GRCh38)
3:40558093 (GRCh37)
Canonical SPDI:: NC_000003.12:40516601:T:A
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40516602T>A, NC_000003.11:g.40558093T>A, XM_005265011.5:c.1008T>A, XM_005265011.4:c.1008T>A, XM_005265011.3:c.1008T>A, XM_005265011.2:c.1008T>A, XM_005265011.1:c.1008T>A, XM_005265012.5:c.1008T>A, XM_005265012.4:c.1008T>A, XM_005265012.3:c.1008T>A, XM_005265012.2:c.1008T>A, XM_005265012.1:c.1008T>A, NM_175888.4:c.1008T>A, NM_175888.3:c.1008T>A, XM_017006064.3:c.1143T>A, XM_017006064.2:c.1143T>A, XM_017006064.1:c.1143T>A, XM_017006065.3:c.894T>A, XM_017006065.2:c.894T>A, XM_017006065.1:c.894T>A, NM_001256168.2:c.666T>A, NM_001256168.1:c.666T>A, NM_001256167.2:c.666T>A, NM_001256167.1:c.666T>A, XM_047447873.1:c.1143T>A, XM_047447874.1:c.894T>A, XM_047447875.1:c.891T>A, NR_024114.1:n.916T>A, XP_005265068.1:p.Tyr336Ter, XP_005265069.1:p.Tyr336Ter, NP_787084.1:p.Tyr336Ter, XP_016861553.1:p.Tyr381Ter, XP_016861554.1:p.Tyr298Ter, NP_001243097.1:p.Tyr222Ter, NP_001243096.1:p.Tyr222Ter, XP_047303829.1:p.Tyr381Ter, XP_047303830.1:p.Tyr298Ter, XP_047303831.1:p.Tyr297Ter

Select item 144549404716.

rs1445494047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:40511515 (GRCh38)
3:40553006 (GRCh37)
Canonical SPDI:: NC_000003.12:40511514:G:A
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_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_000003.12:g.40511515G>A, NC_000003.11:g.40553006G>A, XM_005265011.5:c.70G>A, XM_005265011.4:c.70G>A, XM_005265011.3:c.70G>A, XM_005265011.2:c.70G>A, XM_005265011.1:c.70G>A, XM_005265012.5:c.70G>A, XM_005265012.4:c.70G>A, XM_005265012.3:c.70G>A, XM_005265012.2:c.70G>A, XM_005265012.1:c.70G>A, NM_175888.4:c.70G>A, NM_175888.3:c.70G>A, XM_017006064.3:c.205G>A, XM_017006064.2:c.205G>A, XM_017006064.1:c.205G>A, XM_017006065.3:c.70G>A, XM_017006065.2:c.70G>A, XM_017006065.1:c.70G>A, XM_047447873.1:c.205G>A, XM_047447874.1:c.70G>A, XM_047447875.1:c.-48G>A, XP_005265068.1:p.Glu24Lys, XP_005265069.1:p.Glu24Lys, NP_787084.1:p.Glu24Lys, XP_016861553.1:p.Glu69Lys, XP_016861554.1:p.Glu24Lys, XP_047303829.1:p.Glu69Lys, XP_047303830.1:p.Glu24Lys

Select item 144318947217.

rs1443189472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:40515980 (GRCh38)
3:40557471 (GRCh37)
Canonical SPDI:: NC_000003.12:40515979:T:A
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.40515980T>A, NC_000003.11:g.40557471T>A, XM_005265011.5:c.386T>A, XM_005265011.4:c.386T>A, XM_005265011.3:c.386T>A, XM_005265011.2:c.386T>A, XM_005265011.1:c.386T>A, XM_005265012.5:c.386T>A, XM_005265012.4:c.386T>A, XM_005265012.3:c.386T>A, XM_005265012.2:c.386T>A, XM_005265012.1:c.386T>A, NM_175888.4:c.386T>A, NM_175888.3:c.386T>A, XM_017006064.3:c.521T>A, XM_017006064.2:c.521T>A, XM_017006064.1:c.521T>A, XM_017006065.3:c.272T>A, XM_017006065.2:c.272T>A, XM_017006065.1:c.272T>A, NM_001256168.2:c.44T>A, NM_001256168.1:c.44T>A, NM_001256167.2:c.44T>A, NM_001256167.1:c.44T>A, XM_047447873.1:c.521T>A, XM_047447874.1:c.272T>A, XM_047447875.1:c.269T>A, NR_024114.1:n.294T>A, XP_005265068.1:p.Phe129Tyr, XP_005265069.1:p.Phe129Tyr, NP_787084.1:p.Phe129Tyr, XP_016861553.1:p.Phe174Tyr, XP_016861554.1:p.Phe91Tyr, NP_001243097.1:p.Phe15Tyr, NP_001243096.1:p.Phe15Tyr, XP_047303829.1:p.Phe174Tyr, XP_047303830.1:p.Phe91Tyr, XP_047303831.1:p.Phe90Tyr

Select item 144107804518.

rs1441078045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40511472 (GRCh38)
3:40552963 (GRCh37)
Canonical SPDI:: NC_000003.12:40511471:A:G
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.40511472A>G, NC_000003.11:g.40552963A>G, XM_005265011.5:c.27A>G, XM_005265011.4:c.27A>G, XM_005265011.3:c.27A>G, XM_005265011.2:c.27A>G, XM_005265011.1:c.27A>G, XM_005265012.5:c.27A>G, XM_005265012.4:c.27A>G, XM_005265012.3:c.27A>G, XM_005265012.2:c.27A>G, XM_005265012.1:c.27A>G, NM_175888.4:c.27A>G, NM_175888.3:c.27A>G, XM_017006064.3:c.162A>G, XM_017006064.2:c.162A>G, XM_017006064.1:c.162A>G, XM_017006065.3:c.27A>G, XM_017006065.2:c.27A>G, XM_017006065.1:c.27A>G, XM_047447873.1:c.162A>G, XM_047447874.1:c.27A>G, XM_047447875.1:c.-91A>G

Select item 144031839019.

rs1440318390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40515912 (GRCh38)
3:40557403 (GRCh37)
Canonical SPDI:: NC_000003.12:40515911:C:T
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40515912C>T, NC_000003.11:g.40557403C>T, XM_005265011.5:c.318C>T, XM_005265011.4:c.318C>T, XM_005265011.3:c.318C>T, XM_005265011.2:c.318C>T, XM_005265011.1:c.318C>T, XM_005265012.5:c.318C>T, XM_005265012.4:c.318C>T, XM_005265012.3:c.318C>T, XM_005265012.2:c.318C>T, XM_005265012.1:c.318C>T, NM_175888.4:c.318C>T, NM_175888.3:c.318C>T, XM_017006064.3:c.453C>T, XM_017006064.2:c.453C>T, XM_017006064.1:c.453C>T, XM_017006065.3:c.204C>T, XM_017006065.2:c.204C>T, XM_017006065.1:c.204C>T, NM_001256168.2:c.-25C>T, NM_001256168.1:c.-25C>T, NM_001256167.2:c.-25C>T, NM_001256167.1:c.-25C>T, XM_047447873.1:c.453C>T, XM_047447874.1:c.204C>T, XM_047447875.1:c.201C>T, NR_024114.1:n.226C>T

Select item 144020731820.

rs1440207318 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 3:40516724 (GRCh38)
3:40558215 (GRCh37)
Canonical SPDI:: NC_000003.12:40516721:AATAA:AA
Gene:: ZNF620 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40516724_40516726del, NC_000003.11:g.40558215_40558217del, XM_005265011.5:c.1130_1132del, XM_005265011.4:c.1130_1132del, XM_005265011.3:c.1130_1132del, XM_005265011.2:c.1130_1132del, XM_005265011.1:c.1130_1132del, XM_005265012.5:c.1130_1132del, XM_005265012.4:c.1130_1132del, XM_005265012.3:c.1130_1132del, XM_005265012.2:c.1130_1132del, XM_005265012.1:c.1130_1132del, NM_175888.4:c.1130_1132del, NM_175888.3:c.1130_1132del, XM_017006064.3:c.1265_1267del, XM_017006064.2:c.1265_1267del, XM_017006064.1:c.1265_1267del, XM_017006065.3:c.1016_1018del, XM_017006065.2:c.1016_1018del, XM_017006065.1:c.1016_1018del, NM_001256168.2:c.788_790del, NM_001256168.1:c.788_790del, NM_001256167.2:c.788_790del, NM_001256167.1:c.788_790del, XM_047447873.1:c.1265_1267del, XM_047447874.1:c.1016_1018del, XM_047447875.1:c.1013_1015del, NR_024114.1:n.1038_1040del, XP_005265068.1:p.Ile377del, XP_005265069.1:p.Ile377del, NP_787084.1:p.Ile377del, XP_016861553.1:p.Ile422del, XP_016861554.1:p.Ile339del, NP_001243097.1:p.Ile263del, NP_001243096.1:p.Ile263del, XP_047303829.1:p.Ile422del, XP_047303830.1:p.Ile339del, XP_047303831.1:p.Ile338del

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