SNP Links for Protein (Select 574274721) - SNP

Links from Protein

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Select item 14907721831.

rs1490772183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48133090 (GRCh38)
19:48636347 (GRCh37)
Canonical SPDI:: NC_000019.10:48133089:G:C
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000019.10:g.48133090G>C, NC_000019.9:g.48636347G>C, NG_007395.1:g.42214C>G, NM_000234.3:c.1617C>G, NM_000234.2:c.1617C>G, NM_000234.1:c.1617C>G, NR_135500.2:n.1955C>G, NR_135500.1:n.2214C>G, NR_135497.2:n.1778C>G, NR_135497.1:n.2037C>G, NR_110296.2:n.1775C>G, NR_110296.1:n.2034C>G, NR_135499.2:n.1688C>G, NR_135499.1:n.1947C>G, NR_135498.2:n.1607C>G, NR_135498.1:n.1866C>G, NM_001320970.2:c.1614C>G, NM_001320970.1:c.1614C>G, NM_001320971.2:c.1527C>G, NM_001320971.1:c.1527C>G, NM_001289063.2:c.1524C>G, NM_001289063.1:c.1524C>G, NR_135501.2:n.1599C>G, NR_135501.1:n.1858C>G, NM_001289064.2:c.1413C>G, NM_001289064.1:c.1413C>G, XM_047438833.1:c.696C>G, XM_047438834.1:c.1531C>G, XP_047294790.1:p.Pro511Ala

Select item 14907663112.

rs1490766311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48140074 (GRCh38)
19:48643331 (GRCh37)
Canonical SPDI:: NC_000019.10:48140073:G:C
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48140074G>C, NC_000019.9:g.48643331G>C, NG_007395.1:g.35230C>G, NM_000234.3:c.984C>G, NM_000234.2:c.984C>G, NM_000234.1:c.984C>G, NR_135500.2:n.1322C>G, NR_135500.1:n.1581C>G, NR_135497.2:n.1145C>G, NR_135497.1:n.1404C>G, NR_110296.2:n.1142C>G, NR_110296.1:n.1401C>G, NR_135499.2:n.1055C>G, NR_135499.1:n.1314C>G, NR_135498.2:n.1060C>G, NR_135498.1:n.1319C>G, NM_001320970.2:c.981C>G, NM_001320970.1:c.981C>G, NM_001320971.2:c.894C>G, NM_001320971.1:c.894C>G, NM_001289063.2:c.891C>G, NM_001289063.1:c.891C>G, NR_135501.2:n.1052C>G, NR_135501.1:n.1311C>G, NM_001289064.2:c.780C>G, NM_001289064.1:c.780C>G, XM_047438833.1:c.63C>G, XM_047438834.1:c.984C>G

Select item 14902767263.

rs1490276726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48137666 (GRCh38)
19:48640923 (GRCh37)
Canonical SPDI:: NC_000019.10:48137665:C:A
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48137666C>A, NC_000019.9:g.48640923C>A, NG_007395.1:g.37638G>T, NM_000234.3:c.1110G>T, NM_000234.2:c.1110G>T, NM_000234.1:c.1110G>T, NR_135500.2:n.1448G>T, NR_135500.1:n.1707G>T, NR_135497.2:n.1271G>T, NR_135497.1:n.1530G>T, NR_110296.2:n.1268G>T, NR_110296.1:n.1527G>T, NR_135499.2:n.1181G>T, NR_135499.1:n.1440G>T, NR_135498.2:n.1186G>T, NR_135498.1:n.1445G>T, NM_001320970.2:c.1107G>T, NM_001320970.1:c.1107G>T, NM_001320971.2:c.1020G>T, NM_001320971.1:c.1020G>T, NM_001289063.2:c.1017G>T, NM_001289063.1:c.1017G>T, NR_135501.2:n.1178G>T, NR_135501.1:n.1437G>T, NM_001289064.2:c.906G>T, NM_001289064.1:c.906G>T, XM_047438833.1:c.189G>T, XM_047438834.1:c.1110G>T

Select item 14894871124.

rs1489487112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48153932 (GRCh38)
19:48657189 (GRCh37)
Canonical SPDI:: NC_000019.10:48153931:C:T
Gene:: LIG1 (Varview), LOC107985293 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48153932C>T, NC_000019.9:g.48657189C>T, NG_007395.1:g.21372G>A, NM_000234.3:c.406G>A, NM_000234.2:c.406G>A, NM_000234.1:c.406G>A, NR_135500.2:n.477G>A, NR_135500.1:n.736G>A, NR_135497.2:n.567G>A, NR_135497.1:n.826G>A, NR_110296.2:n.567G>A, NR_110296.1:n.826G>A, NR_135499.2:n.477G>A, NR_135499.1:n.736G>A, NR_135498.2:n.477G>A, NR_135498.1:n.736G>A, NM_001320970.2:c.406G>A, NM_001320970.1:c.406G>A, NM_001320971.2:c.316G>A, NM_001320971.1:c.316G>A, NM_001289063.2:c.316G>A, NM_001289063.1:c.316G>A, NR_135501.2:n.477G>A, NR_135501.1:n.736G>A, XM_047438834.1:c.406G>A, NP_000225.1:p.Val136Ile, NP_001307899.1:p.Val136Ile, NP_001307900.1:p.Val106Ile, NP_001275992.1:p.Val106Ile, XP_047294790.1:p.Val136Ile

Select item 14857405395.

rs1485740539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:48119143 (GRCh38)
19:48622400 (GRCh37)
Canonical SPDI:: NC_000019.10:48119142:G:A,NC_000019.10:48119142:G:C
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48119143G>A, NC_000019.10:g.48119143G>C, NC_000019.9:g.48622400G>A, NC_000019.9:g.48622400G>C, NG_007395.1:g.56161C>T, NG_007395.1:g.56161C>G, NM_000234.3:c.2433C>T, NM_000234.3:c.2433C>G, NM_000234.2:c.2433C>T, NM_000234.2:c.2433C>G, NM_000234.1:c.2433C>T, NM_000234.1:c.2433C>G, NR_135500.2:n.3774C>T, NR_135500.2:n.3774C>G, NR_135500.1:n.4033C>T, NR_135500.1:n.4033C>G, NR_135497.2:n.3597C>T, NR_135497.2:n.3597C>G, NR_135497.1:n.3856C>T, NR_135497.1:n.3856C>G, NR_110296.2:n.3594C>T, NR_110296.2:n.3594C>G, NR_110296.1:n.3853C>T, NR_110296.1:n.3853C>G, NR_135499.2:n.3507C>T, NR_135499.2:n.3507C>G, NR_135499.1:n.3766C>T, NR_135499.1:n.3766C>G, NR_135498.2:n.3426C>T, NR_135498.2:n.3426C>G, NR_135498.1:n.3685C>T, NR_135498.1:n.3685C>G, NM_001320970.2:c.2430C>T, NM_001320970.2:c.2430C>G, NM_001320970.1:c.2430C>T, NM_001320970.1:c.2430C>G, NM_001320971.2:c.2343C>T, NM_001320971.2:c.2343C>G, NM_001320971.1:c.2343C>T, NM_001320971.1:c.2343C>G, NM_001289063.2:c.2340C>T, NM_001289063.2:c.2340C>G, NM_001289063.1:c.2340C>T, NM_001289063.1:c.2340C>G, NR_135501.2:n.2415C>T, NR_135501.2:n.2415C>G, NR_135501.1:n.2674C>T, NR_135501.1:n.2674C>G, NM_001289064.2:c.2229C>T, NM_001289064.2:c.2229C>G, NM_001289064.1:c.2229C>T, NM_001289064.1:c.2229C>G, XM_047438833.1:c.1512C>T, XM_047438833.1:c.1512C>G, NP_000225.1:p.Ser811Arg, NP_001307899.1:p.Ser810Arg, NP_001307900.1:p.Ser781Arg, NP_001275992.1:p.Ser780Arg, NP_001275993.1:p.Ser743Arg, XP_047294789.1:p.Ser504Arg

Select item 14847561246.

rs1484756124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48117644 (GRCh38)
19:48620901 (GRCh37)
Canonical SPDI:: NC_000019.10:48117643:C:A
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48117644C>A, NC_000019.9:g.48620901C>A, NG_007395.1:g.57660G>T, NM_000234.3:c.2577G>T, NM_000234.2:c.2577G>T, NM_000234.1:c.2577G>T, NR_135500.2:n.3918G>T, NR_135500.1:n.4177G>T, NR_135497.2:n.3741G>T, NR_135497.1:n.4000G>T, NR_110296.2:n.3738G>T, NR_110296.1:n.3997G>T, NR_135499.2:n.3651G>T, NR_135499.1:n.3910G>T, NR_135498.2:n.3570G>T, NR_135498.1:n.3829G>T, NM_001320970.2:c.2574G>T, NM_001320970.1:c.2574G>T, NM_001320971.2:c.2487G>T, NM_001320971.1:c.2487G>T, NM_001289063.2:c.2484G>T, NM_001289063.1:c.2484G>T, NR_135501.2:n.2559G>T, NR_135501.1:n.2818G>T, NM_001289064.2:c.2373G>T, NM_001289064.1:c.2373G>T, XM_047438833.1:c.1656G>T

Select item 14810839557.

rs1481083955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48121227 (GRCh38)
19:48624484 (GRCh37)
Canonical SPDI:: NC_000019.10:48121226:C:T
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48121227C>T, NC_000019.9:g.48624484C>T, NG_007395.1:g.54077G>A, NM_000234.3:c.2328G>A, NM_000234.2:c.2328G>A, NM_000234.1:c.2328G>A, NR_135500.2:n.2666G>A, NR_135500.1:n.2925G>A, NR_135497.2:n.2489G>A, NR_135497.1:n.2748G>A, NR_110296.2:n.2486G>A, NR_110296.1:n.2745G>A, NR_135499.2:n.2399G>A, NR_135499.1:n.2658G>A, NR_135498.2:n.2318G>A, NR_135498.1:n.2577G>A, NM_001320970.2:c.2325G>A, NM_001320970.1:c.2325G>A, NM_001320971.2:c.2238G>A, NM_001320971.1:c.2238G>A, NM_001289063.2:c.2235G>A, NM_001289063.1:c.2235G>A, NR_135501.2:n.2310G>A, NR_135501.1:n.2569G>A, NM_001289064.2:c.2124G>A, NM_001289064.1:c.2124G>A, XM_047438833.1:c.1407G>A

Select item 14803213438.

rs1480321343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:48137624 (GRCh38)
19:48640881 (GRCh37)
Canonical SPDI:: NC_000019.10:48137623:C:G
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48137624C>G, NC_000019.9:g.48640881C>G, NG_007395.1:g.37680G>C, NM_000234.3:c.1152G>C, NM_000234.2:c.1152G>C, NM_000234.1:c.1152G>C, NR_135500.2:n.1490G>C, NR_135500.1:n.1749G>C, NR_135497.2:n.1313G>C, NR_135497.1:n.1572G>C, NR_110296.2:n.1310G>C, NR_110296.1:n.1569G>C, NR_135499.2:n.1223G>C, NR_135499.1:n.1482G>C, NR_135498.2:n.1228G>C, NR_135498.1:n.1487G>C, NM_001320970.2:c.1149G>C, NM_001320970.1:c.1149G>C, NM_001320971.2:c.1062G>C, NM_001320971.1:c.1062G>C, NM_001289063.2:c.1059G>C, NM_001289063.1:c.1059G>C, NR_135501.2:n.1220G>C, NR_135501.1:n.1479G>C, NM_001289064.2:c.948G>C, NM_001289064.1:c.948G>C, XM_047438833.1:c.231G>C, XM_047438834.1:c.1152G>C, NP_000225.1:p.Glu384Asp, NP_001307899.1:p.Glu383Asp, NP_001307900.1:p.Glu354Asp, NP_001275992.1:p.Glu353Asp, NP_001275993.1:p.Glu316Asp, XP_047294789.1:p.Glu77Asp, XP_047294790.1:p.Glu384Asp

Select item 14793042309.

rs1479304230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48117640 (GRCh38)
19:48620897 (GRCh37)
Canonical SPDI:: NC_000019.10:48117639:G:A
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48117640G>A, NC_000019.9:g.48620897G>A, NG_007395.1:g.57664C>T, NM_000234.3:c.2581C>T, NM_000234.2:c.2581C>T, NM_000234.1:c.2581C>T, NR_135500.2:n.3922C>T, NR_135500.1:n.4181C>T, NR_135497.2:n.3745C>T, NR_135497.1:n.4004C>T, NR_110296.2:n.3742C>T, NR_110296.1:n.4001C>T, NR_135499.2:n.3655C>T, NR_135499.1:n.3914C>T, NR_135498.2:n.3574C>T, NR_135498.1:n.3833C>T, NM_001320970.2:c.2578C>T, NM_001320970.1:c.2578C>T, NM_001320971.2:c.2491C>T, NM_001320971.1:c.2491C>T, NM_001289063.2:c.2488C>T, NM_001289063.1:c.2488C>T, NR_135501.2:n.2563C>T, NR_135501.1:n.2822C>T, NM_001289064.2:c.2377C>T, NM_001289064.1:c.2377C>T, XM_047438833.1:c.1660C>T

Select item 147875643510.

rs1478756435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:48115719 (GRCh38)
19:48618976 (GRCh37)
Canonical SPDI:: NC_000019.10:48115718:T:A
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.48115719T>A, NC_000019.9:g.48618976T>A, NG_016021.1:g.134A>T, NG_007395.1:g.59585A>T, NM_000234.3:c.2690A>T, NM_000234.2:c.2690A>T, NM_000234.1:c.2690A>T, NR_135500.2:n.4031A>T, NR_135500.1:n.4290A>T, NR_135497.2:n.3854A>T, NR_135497.1:n.4113A>T, NR_110296.2:n.3851A>T, NR_110296.1:n.4110A>T, NR_135499.2:n.3764A>T, NR_135499.1:n.4023A>T, NR_135498.2:n.3683A>T, NR_135498.1:n.3942A>T, NM_001320970.2:c.2687A>T, NM_001320970.1:c.2687A>T, NM_001320971.2:c.2600A>T, NM_001320971.1:c.2600A>T, NM_001289063.2:c.2597A>T, NM_001289063.1:c.2597A>T, NR_135501.2:n.2672A>T, NR_135501.1:n.2931A>T, NM_001289064.2:c.2486A>T, NM_001289064.1:c.2486A>T, XM_047438833.1:c.1769A>T, NP_000225.1:p.Tyr897Phe, NP_001307899.1:p.Tyr896Phe, NP_001307900.1:p.Tyr867Phe, NP_001275992.1:p.Tyr866Phe, NP_001275993.1:p.Tyr829Phe, XP_047294789.1:p.Tyr590Phe

Select item 147820264011.

rs1478202640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48161452 (GRCh38)
19:48664709 (GRCh37)
Canonical SPDI:: NC_000019.10:48161451:T:C
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48161452T>C, NC_000019.9:g.48664709T>C, NG_007395.1:g.13852A>G, NM_000234.3:c.163A>G, NM_000234.2:c.163A>G, NM_000234.1:c.163A>G, NR_135500.2:n.234A>G, NR_135500.1:n.493A>G, NR_135497.2:n.324A>G, NR_135497.1:n.583A>G, NR_110296.2:n.324A>G, NR_110296.1:n.583A>G, NR_135499.2:n.234A>G, NR_135499.1:n.493A>G, NR_135498.2:n.234A>G, NR_135498.1:n.493A>G, NM_001320970.2:c.163A>G, NM_001320970.1:c.163A>G, NM_001320971.2:c.73A>G, NM_001320971.1:c.73A>G, NM_001289063.2:c.73A>G, NM_001289063.1:c.73A>G, NR_135501.2:n.234A>G, NR_135501.1:n.493A>G, NM_001289064.2:c.163A>G, NM_001289064.1:c.163A>G, XM_047438834.1:c.163A>G, NP_000225.1:p.Arg55Gly, NP_001307899.1:p.Arg55Gly, NP_001307900.1:p.Arg25Gly, NP_001275992.1:p.Arg25Gly, NP_001275993.1:p.Arg55Gly, XP_047294790.1:p.Arg55Gly

Select item 147774832312.

rs1477748323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48161430 (GRCh38)
19:48664687 (GRCh37)
Canonical SPDI:: NC_000019.10:48161429:C:T
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.48161430C>T, NC_000019.9:g.48664687C>T, NG_007395.1:g.13874G>A, NM_000234.3:c.185G>A, NM_000234.2:c.185G>A, NM_000234.1:c.185G>A, NR_135500.2:n.256G>A, NR_135500.1:n.515G>A, NR_135497.2:n.346G>A, NR_135497.1:n.605G>A, NR_110296.2:n.346G>A, NR_110296.1:n.605G>A, NR_135499.2:n.256G>A, NR_135499.1:n.515G>A, NR_135498.2:n.256G>A, NR_135498.1:n.515G>A, NM_001320970.2:c.185G>A, NM_001320970.1:c.185G>A, NM_001320971.2:c.95G>A, NM_001320971.1:c.95G>A, NM_001289063.2:c.95G>A, NM_001289063.1:c.95G>A, NR_135501.2:n.256G>A, NR_135501.1:n.515G>A, NM_001289064.2:c.185G>A, NM_001289064.1:c.185G>A, XM_047438834.1:c.185G>A, NP_000225.1:p.Arg62Gln, NP_001307899.1:p.Arg62Gln, NP_001307900.1:p.Arg32Gln, NP_001275992.1:p.Arg32Gln, NP_001275993.1:p.Arg62Gln, XP_047294790.1:p.Arg62Gln

Select item 147720674713.

rs1477206747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:48117706 (GRCh38)
19:48620963 (GRCh37)
Canonical SPDI:: NC_000019.10:48117705:T:G
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000019.10:g.48117706T>G, NC_000019.9:g.48620963T>G, NG_007395.1:g.57598A>C, NM_000234.3:c.2515A>C, NM_000234.2:c.2515A>C, NM_000234.1:c.2515A>C, NR_135500.2:n.3856A>C, NR_135500.1:n.4115A>C, NR_135497.2:n.3679A>C, NR_135497.1:n.3938A>C, NR_110296.2:n.3676A>C, NR_110296.1:n.3935A>C, NR_135499.2:n.3589A>C, NR_135499.1:n.3848A>C, NR_135498.2:n.3508A>C, NR_135498.1:n.3767A>C, NM_001320970.2:c.2512A>C, NM_001320970.1:c.2512A>C, NM_001320971.2:c.2425A>C, NM_001320971.1:c.2425A>C, NM_001289063.2:c.2422A>C, NM_001289063.1:c.2422A>C, NR_135501.2:n.2497A>C, NR_135501.1:n.2756A>C, NM_001289064.2:c.2311A>C, NM_001289064.1:c.2311A>C, XM_047438833.1:c.1594A>C, NP_000225.1:p.Ser839Arg, NP_001307899.1:p.Ser838Arg, NP_001307900.1:p.Ser809Arg, NP_001275992.1:p.Ser808Arg, NP_001275993.1:p.Ser771Arg, XP_047294789.1:p.Ser532Arg

Select item 147704673214.

rs1477046732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48143584 (GRCh38)
19:48646841 (GRCh37)
Canonical SPDI:: NC_000019.10:48143583:A:G
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48143584A>G, NC_000019.9:g.48646841A>G, NG_007395.1:g.31720T>C, NM_000234.3:c.873T>C, NM_000234.2:c.873T>C, NM_000234.1:c.873T>C, NR_135500.2:n.1211T>C, NR_135500.1:n.1470T>C, NR_135497.2:n.1034T>C, NR_135497.1:n.1293T>C, NR_110296.2:n.1031T>C, NR_110296.1:n.1290T>C, NR_135499.2:n.944T>C, NR_135499.1:n.1203T>C, NR_135498.2:n.949T>C, NR_135498.1:n.1208T>C, NM_001320970.2:c.870T>C, NM_001320970.1:c.870T>C, NM_001320971.2:c.783T>C, NM_001320971.1:c.783T>C, NM_001289063.2:c.780T>C, NM_001289063.1:c.780T>C, NR_135501.2:n.941T>C, NR_135501.1:n.1200T>C, NM_001289064.2:c.669T>C, NM_001289064.1:c.669T>C, XM_047438833.1:c.-49T>C, XM_047438834.1:c.873T>C

Select item 147661311315.

rs1476613113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48150168 (GRCh38)
19:48653425 (GRCh37)
Canonical SPDI:: NC_000019.10:48150167:G:A
Gene:: LIG1 (Varview), LOC107985293 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48150168G>A, NC_000019.9:g.48653425G>A, NG_007395.1:g.25136C>T, NM_000234.3:c.617C>T, NM_000234.2:c.617C>T, NM_000234.1:c.617C>T, NR_135500.2:n.955C>T, NR_135500.1:n.1214C>T, NR_135497.2:n.778C>T, NR_135497.1:n.1037C>T, NR_110296.2:n.775C>T, NR_110296.1:n.1034C>T, NR_135499.2:n.688C>T, NR_135499.1:n.947C>T, NR_135498.2:n.688C>T, NR_135498.1:n.947C>T, NM_001320970.2:c.614C>T, NM_001320970.1:c.614C>T, NM_001320971.2:c.527C>T, NM_001320971.1:c.527C>T, NM_001289063.2:c.524C>T, NM_001289063.1:c.524C>T, NR_135501.2:n.685C>T, NR_135501.1:n.944C>T, NM_001289064.2:c.413C>T, NM_001289064.1:c.413C>T, XM_047438833.1:c.-305C>T, XM_047438834.1:c.617C>T, NP_000225.1:p.Ala206Val, NP_001307899.1:p.Ala205Val, NP_001307900.1:p.Ala176Val, NP_001275992.1:p.Ala175Val, NP_001275993.1:p.Ala138Val, XP_047294790.1:p.Ala206Val

Select item 147480629016.

rs1474806290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48157047 (GRCh38)
19:48660304 (GRCh37)
Canonical SPDI:: NC_000019.10:48157046:T:C
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48157047T>C, NC_000019.9:g.48660304T>C, NG_007395.1:g.18257A>G, NM_000234.3:c.337A>G, NM_000234.2:c.337A>G, NM_000234.1:c.337A>G, NR_135500.2:n.408A>G, NR_135500.1:n.667A>G, NR_135497.2:n.498A>G, NR_135497.1:n.757A>G, NR_110296.2:n.498A>G, NR_110296.1:n.757A>G, NR_135499.2:n.408A>G, NR_135499.1:n.667A>G, NR_135498.2:n.408A>G, NR_135498.1:n.667A>G, NM_001320970.2:c.337A>G, NM_001320970.1:c.337A>G, NM_001320971.2:c.247A>G, NM_001320971.1:c.247A>G, NM_001289063.2:c.247A>G, NM_001289063.1:c.247A>G, NR_135501.2:n.408A>G, NR_135501.1:n.667A>G, NM_001289064.2:c.337A>G, NM_001289064.1:c.337A>G, XM_047438834.1:c.337A>G, NP_000225.1:p.Ser113Gly, NP_001307899.1:p.Ser113Gly, NP_001307900.1:p.Ser83Gly, NP_001275992.1:p.Ser83Gly, NP_001275993.1:p.Ser113Gly, XP_047294790.1:p.Ser113Gly

Select item 147286810817.

rs1472868108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48115656 (GRCh38)
19:48618913 (GRCh37)
Canonical SPDI:: NC_000019.10:48115655:G:T
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.48115656G>T, NC_000019.9:g.48618913G>T, NG_016021.1:g.197C>A, NG_007395.1:g.59648C>A, NM_000234.3:c.2753C>A, NM_000234.2:c.2753C>A, NM_000234.1:c.2753C>A, NR_135500.2:n.4094C>A, NR_135500.1:n.4353C>A, NR_135497.2:n.3917C>A, NR_135497.1:n.4176C>A, NR_110296.2:n.3914C>A, NR_110296.1:n.4173C>A, NR_135499.2:n.3827C>A, NR_135499.1:n.4086C>A, NR_135498.2:n.3746C>A, NR_135498.1:n.4005C>A, NM_001320970.2:c.2750C>A, NM_001320970.1:c.2750C>A, NM_001320971.2:c.2663C>A, NM_001320971.1:c.2663C>A, NM_001289063.2:c.2660C>A, NM_001289063.1:c.2660C>A, NR_135501.2:n.2735C>A, NR_135501.1:n.2994C>A, NM_001289064.2:c.2549C>A, NM_001289064.1:c.2549C>A, XM_047438833.1:c.1832C>A, NP_000225.1:p.Thr918Asn, NP_001307899.1:p.Thr917Asn, NP_001307900.1:p.Thr888Asn, NP_001275992.1:p.Thr887Asn, NP_001275993.1:p.Thr850Asn, XP_047294789.1:p.Thr611Asn

Select item 146712204418.

rs1467122044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:48115667 (GRCh38)
19:48618924 (GRCh37)
Canonical SPDI:: NC_000019.10:48115666:G:A,NC_000019.10:48115666:G:T
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48115667G>A, NC_000019.10:g.48115667G>T, NC_000019.9:g.48618924G>A, NC_000019.9:g.48618924G>T, NG_016021.1:g.186C>T, NG_016021.1:g.186C>A, NG_007395.1:g.59637C>T, NG_007395.1:g.59637C>A, NM_000234.3:c.2742C>T, NM_000234.3:c.2742C>A, NM_000234.2:c.2742C>T, NM_000234.2:c.2742C>A, NM_000234.1:c.2742C>T, NM_000234.1:c.2742C>A, NR_135500.2:n.4083C>T, NR_135500.2:n.4083C>A, NR_135500.1:n.4342C>T, NR_135500.1:n.4342C>A, NR_135497.2:n.3906C>T, NR_135497.2:n.3906C>A, NR_135497.1:n.4165C>T, NR_135497.1:n.4165C>A, NR_110296.2:n.3903C>T, NR_110296.2:n.3903C>A, NR_110296.1:n.4162C>T, NR_110296.1:n.4162C>A, NR_135499.2:n.3816C>T, NR_135499.2:n.3816C>A, NR_135499.1:n.4075C>T, NR_135499.1:n.4075C>A, NR_135498.2:n.3735C>T, NR_135498.2:n.3735C>A, NR_135498.1:n.3994C>T, NR_135498.1:n.3994C>A, NM_001320970.2:c.2739C>T, NM_001320970.2:c.2739C>A, NM_001320970.1:c.2739C>T, NM_001320970.1:c.2739C>A, NM_001320971.2:c.2652C>T, NM_001320971.2:c.2652C>A, NM_001320971.1:c.2652C>T, NM_001320971.1:c.2652C>A, NM_001289063.2:c.2649C>T, NM_001289063.2:c.2649C>A, NM_001289063.1:c.2649C>T, NM_001289063.1:c.2649C>A, NR_135501.2:n.2724C>T, NR_135501.2:n.2724C>A, NR_135501.1:n.2983C>T, NR_135501.1:n.2983C>A, NM_001289064.2:c.2538C>T, NM_001289064.2:c.2538C>A, NM_001289064.1:c.2538C>T, NM_001289064.1:c.2538C>A, XM_047438833.1:c.1821C>T, XM_047438833.1:c.1821C>A, NP_000225.1:p.Asp914Glu, NP_001307899.1:p.Asp913Glu, NP_001307900.1:p.Asp884Glu, NP_001275992.1:p.Asp883Glu, NP_001275993.1:p.Asp846Glu, XP_047294789.1:p.Asp607Glu

Select item 146654392219.

rs1466543922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48161387 (GRCh38)
19:48664644 (GRCh37)
Canonical SPDI:: NC_000019.10:48161386:G:C
Gene:: LIG1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48161387G>C, NC_000019.9:g.48664644G>C, NG_007395.1:g.13917C>G, NM_000234.3:c.228C>G, NM_000234.2:c.228C>G, NM_000234.1:c.228C>G, NR_135500.2:n.299C>G, NR_135500.1:n.558C>G, NR_135497.2:n.389C>G, NR_135497.1:n.648C>G, NR_110296.2:n.389C>G, NR_110296.1:n.648C>G, NR_135499.2:n.299C>G, NR_135499.1:n.558C>G, NR_135498.2:n.299C>G, NR_135498.1:n.558C>G, NM_001320970.2:c.228C>G, NM_001320970.1:c.228C>G, NM_001320971.2:c.138C>G, NM_001320971.1:c.138C>G, NM_001289063.2:c.138C>G, NM_001289063.1:c.138C>G, NR_135501.2:n.299C>G, NR_135501.1:n.558C>G, NM_001289064.2:c.228C>G, NM_001289064.1:c.228C>G, XM_047438834.1:c.228C>G, NP_000225.1:p.Ser76Arg, NP_001307899.1:p.Ser76Arg, NP_001307900.1:p.Ser46Arg, NP_001275992.1:p.Ser46Arg, NP_001275993.1:p.Ser76Arg, XP_047294790.1:p.Ser76Arg

Select item 146632161620.

rs1466321616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:48137567 (GRCh38)
19:48640824 (GRCh37)
Canonical SPDI:: NC_000019.10:48137566:C:A,NC_000019.10:48137566:C:T
Gene:: LIG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.48137567C>A, NC_000019.10:g.48137567C>T, NC_000019.9:g.48640824C>A, NC_000019.9:g.48640824C>T, NG_007395.1:g.37737G>T, NG_007395.1:g.37737G>A, NM_000234.3:c.1209G>T, NM_000234.3:c.1209G>A, NM_000234.2:c.1209G>T, NM_000234.2:c.1209G>A, NM_000234.1:c.1209G>T, NM_000234.1:c.1209G>A, NR_135500.2:n.1547G>T, NR_135500.2:n.1547G>A, NR_135500.1:n.1806G>T, NR_135500.1:n.1806G>A, NR_135497.2:n.1370G>T, NR_135497.2:n.1370G>A, NR_135497.1:n.1629G>T, NR_135497.1:n.1629G>A, NR_110296.2:n.1367G>T, NR_110296.2:n.1367G>A, NR_110296.1:n.1626G>T, NR_110296.1:n.1626G>A, NR_135499.2:n.1280G>T, NR_135499.2:n.1280G>A, NR_135499.1:n.1539G>T, NR_135499.1:n.1539G>A, NR_135498.2:n.1285G>T, NR_135498.2:n.1285G>A, NR_135498.1:n.1544G>T, NR_135498.1:n.1544G>A, NM_001320970.2:c.1206G>T, NM_001320970.2:c.1206G>A, NM_001320970.1:c.1206G>T, NM_001320970.1:c.1206G>A, NM_001320971.2:c.1119G>T, NM_001320971.2:c.1119G>A, NM_001320971.1:c.1119G>T, NM_001320971.1:c.1119G>A, NM_001289063.2:c.1116G>T, NM_001289063.2:c.1116G>A, NM_001289063.1:c.1116G>T, NM_001289063.1:c.1116G>A, NR_135501.2:n.1277G>T, NR_135501.2:n.1277G>A, NR_135501.1:n.1536G>T, NR_135501.1:n.1536G>A, NM_001289064.2:c.1005G>T, NM_001289064.2:c.1005G>A, NM_001289064.1:c.1005G>T, NM_001289064.1:c.1005G>A, XM_047438833.1:c.288G>T, XM_047438833.1:c.288G>A, XM_047438834.1:c.1209G>T, XM_047438834.1:c.1209G>A

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