SNP Links for Protein (Select 15147337) - SNP

Select item 14905476321.

rs1490547632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:102275748 (GRCh38)
8:103287976 (GRCh37)
Canonical SPDI:: NC_000008.11:102275747:C:A,NC_000008.11:102275747:C:G
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102275748C>A, NC_000008.11:g.102275748C>G, NC_000008.10:g.103287976C>A, NC_000008.10:g.103287976C>G, NG_047152.1:g.141942G>T, NG_047152.1:g.141942G>C, NM_015902.6:c.6590G>T, NM_015902.6:c.6590G>C, NM_015902.5:c.6590G>T, NM_015902.5:c.6590G>C, NM_001282873.1:c.6590G>T, NM_001282873.1:c.6590G>C, NM_001282873.2:c.6590G>T, NM_001282873.2:c.6590G>C, XM_005250962.6:c.3620G>T, XM_005250962.6:c.3620G>C, XM_005250962.5:c.3620G>T, XM_005250962.5:c.3620G>C, XM_005250962.4:c.3620G>T, XM_005250962.4:c.3620G>C, XM_005250962.3:c.3620G>T, XM_005250962.3:c.3620G>C, XM_005250962.2:c.3620G>T, XM_005250962.2:c.3620G>C, XM_005250962.1:c.3620G>T, XM_005250962.1:c.3620G>C, XM_024447178.2:c.5846G>T, XM_024447178.2:c.5846G>C, XM_024447178.1:c.5846G>T, XM_024447178.1:c.5846G>C, XM_024447179.2:c.5828G>T, XM_024447179.2:c.5828G>C, XM_024447179.1:c.5828G>T, XM_024447179.1:c.5828G>C, XM_047421849.1:c.5828G>T, XM_047421849.1:c.5828G>C, XM_047421847.1:c.5846G>T, XM_047421847.1:c.5846G>C, XM_047421848.1:c.5828G>T, XM_047421848.1:c.5828G>C, NP_056986.2:p.Gly2197Val, NP_056986.2:p.Gly2197Ala, NP_001269802.1:p.Gly2197Val, NP_001269802.1:p.Gly2197Ala, XP_005251019.1:p.Gly1207Val, XP_005251019.1:p.Gly1207Ala, XP_024302946.1:p.Gly1949Val, XP_024302946.1:p.Gly1949Ala, XP_024302947.1:p.Gly1943Val, XP_024302947.1:p.Gly1943Ala, XP_047277805.1:p.Gly1943Val, XP_047277805.1:p.Gly1943Ala, XP_047277803.1:p.Gly1949Val, XP_047277803.1:p.Gly1949Ala, XP_047277804.1:p.Gly1943Val, XP_047277804.1:p.Gly1943Ala

Select item 14889648142.

rs1488964814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102277046 (GRCh38)
8:103289274 (GRCh37)
Canonical SPDI:: NC_000008.11:102277045:A:G
Gene:: UBR5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.102277046A>G, NC_000008.10:g.103289274A>G, NG_047152.1:g.140644T>C, NM_015902.6:c.6435T>C, NM_015902.5:c.6435T>C, NM_001282873.1:c.6435T>C, NM_001282873.2:c.6435T>C, XM_005250962.6:c.3465T>C, XM_005250962.5:c.3465T>C, XM_005250962.4:c.3465T>C, XM_005250962.3:c.3465T>C, XM_005250962.2:c.3465T>C, XM_005250962.1:c.3465T>C, XM_024447178.2:c.5691T>C, XM_024447178.1:c.5691T>C, XM_024447179.2:c.5673T>C, XM_024447179.1:c.5673T>C, XM_047421849.1:c.5673T>C, XM_047421847.1:c.5691T>C, XM_047421848.1:c.5673T>C

Select item 14886425143.

rs1488642514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102299544 (GRCh38)
8:103311772 (GRCh37)
Canonical SPDI:: NC_000008.11:102299543:C:T
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102299544C>T, NC_000008.10:g.103311772C>T, NG_047152.1:g.118146G>A, NM_015902.6:c.3110G>A, NM_015902.5:c.3110G>A, NM_001282873.1:c.3110G>A, NM_001282873.2:c.3110G>A, XM_005250962.6:c.140G>A, XM_005250962.5:c.140G>A, XM_005250962.4:c.140G>A, XM_005250962.3:c.140G>A, XM_005250962.2:c.140G>A, XM_005250962.1:c.140G>A, XM_024447178.2:c.2366G>A, XM_024447178.1:c.2366G>A, XM_024447179.2:c.2348G>A, XM_024447179.1:c.2348G>A, XM_047421849.1:c.2348G>A, XM_047421847.1:c.2366G>A, XM_047421848.1:c.2348G>A, NP_056986.2:p.Gly1037Asp, NP_001269802.1:p.Gly1037Asp, XP_005251019.1:p.Gly47Asp, XP_024302946.1:p.Gly789Asp, XP_024302947.1:p.Gly783Asp, XP_047277805.1:p.Gly783Asp, XP_047277803.1:p.Gly789Asp, XP_047277804.1:p.Gly783Asp

Select item 14885301394.

rs1488530139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102296920 (GRCh38)
8:103309148 (GRCh37)
Canonical SPDI:: NC_000008.11:102296919:C:T
Gene:: UBR5 (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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102296920C>T, NC_000008.10:g.103309148C>T, NG_047152.1:g.120770G>A, NM_015902.6:c.3638G>A, NM_015902.5:c.3638G>A, NM_001282873.1:c.3638G>A, NM_001282873.2:c.3638G>A, XM_005250962.6:c.668G>A, XM_005250962.5:c.668G>A, XM_005250962.4:c.668G>A, XM_005250962.3:c.668G>A, XM_005250962.2:c.668G>A, XM_005250962.1:c.668G>A, XM_024447178.2:c.2894G>A, XM_024447178.1:c.2894G>A, XM_024447179.2:c.2876G>A, XM_024447179.1:c.2876G>A, XM_047421849.1:c.2876G>A, XM_047421847.1:c.2894G>A, XM_047421848.1:c.2876G>A, NP_056986.2:p.Arg1213Lys, NP_001269802.1:p.Arg1213Lys, XP_005251019.1:p.Arg223Lys, XP_024302946.1:p.Arg965Lys, XP_024302947.1:p.Arg959Lys, XP_047277805.1:p.Arg959Lys, XP_047277803.1:p.Arg965Lys, XP_047277804.1:p.Arg959Lys

Select item 14881515185.

rs1488151518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102285748 (GRCh38)
8:103297976 (GRCh37)
Canonical SPDI:: NC_000008.11:102285747:G:A
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000008.11:g.102285748G>A, NC_000008.10:g.103297976G>A, NG_047152.1:g.131942C>T, NM_015902.6:c.5249C>T, NM_015902.5:c.5249C>T, NM_001282873.1:c.5249C>T, NM_001282873.2:c.5249C>T, XM_005250962.6:c.2279C>T, XM_005250962.5:c.2279C>T, XM_005250962.4:c.2279C>T, XM_005250962.3:c.2279C>T, XM_005250962.2:c.2279C>T, XM_005250962.1:c.2279C>T, XM_024447178.2:c.4505C>T, XM_024447178.1:c.4505C>T, XM_024447179.2:c.4487C>T, XM_024447179.1:c.4487C>T, XM_047421849.1:c.4487C>T, XM_047421847.1:c.4505C>T, XM_047421848.1:c.4487C>T, NP_056986.2:p.Ser1750Leu, NP_001269802.1:p.Ser1750Leu, XP_005251019.1:p.Ser760Leu, XP_024302946.1:p.Ser1502Leu, XP_024302947.1:p.Ser1496Leu, XP_047277805.1:p.Ser1496Leu, XP_047277803.1:p.Ser1502Leu, XP_047277804.1:p.Ser1496Leu

Select item 14874333346.

rs1487433334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102269001 (GRCh38)
8:103281229 (GRCh37)
Canonical SPDI:: NC_000008.11:102269000:C:T
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102269001C>T, NC_000008.10:g.103281229C>T, NG_047152.1:g.148689G>A, NM_015902.6:c.7338G>A, NM_015902.5:c.7338G>A, NM_001282873.1:c.7338G>A, NM_001282873.2:c.7338G>A, XM_005250962.6:c.4374G>A, XM_005250962.5:c.4374G>A, XM_005250962.4:c.4374G>A, XM_005250962.3:c.4374G>A, XM_005250962.2:c.4374G>A, XM_005250962.1:c.4374G>A, XM_024447178.2:c.6600G>A, XM_024447178.1:c.6600G>A, XM_024447179.2:c.6582G>A, XM_024447179.1:c.6582G>A, XM_047421849.1:c.6576G>A, XM_047421847.1:c.6600G>A, XM_047421848.1:c.6582G>A, NP_056986.2:p.Met2446Ile, NP_001269802.1:p.Met2446Ile, XP_005251019.1:p.Met1458Ile, XP_024302946.1:p.Met2200Ile, XP_024302947.1:p.Met2194Ile, XP_047277805.1:p.Met2192Ile, XP_047277803.1:p.Met2200Ile, XP_047277804.1:p.Met2194Ile

Select item 14873624647.

rs1487362464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102293692 (GRCh38)
8:103305920 (GRCh37)
Canonical SPDI:: NC_000008.11:102293691:C:T
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102293692C>T, NC_000008.10:g.103305920C>T, NG_047152.1:g.123998G>A, NM_015902.6:c.4502G>A, NM_015902.5:c.4502G>A, NM_001282873.1:c.4502G>A, NM_001282873.2:c.4502G>A, XM_005250962.6:c.1532G>A, XM_005250962.5:c.1532G>A, XM_005250962.4:c.1532G>A, XM_005250962.3:c.1532G>A, XM_005250962.2:c.1532G>A, XM_005250962.1:c.1532G>A, XM_024447178.2:c.3758G>A, XM_024447178.1:c.3758G>A, XM_024447179.2:c.3740G>A, XM_024447179.1:c.3740G>A, XM_047421849.1:c.3740G>A, XM_047421847.1:c.3758G>A, XM_047421848.1:c.3740G>A, NP_056986.2:p.Ser1501Asn, NP_001269802.1:p.Ser1501Asn, XP_005251019.1:p.Ser511Asn, XP_024302946.1:p.Ser1253Asn, XP_024302947.1:p.Ser1247Asn, XP_047277805.1:p.Ser1247Asn, XP_047277803.1:p.Ser1253Asn, XP_047277804.1:p.Ser1247Asn

Select item 14855207618.

rs1485520761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:102279104 (GRCh38)
8:103291332 (GRCh37)
Canonical SPDI:: NC_000008.11:102279103:G:T
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102279104G>T, NC_000008.10:g.103291332G>T, NG_047152.1:g.138586C>A, NM_015902.6:c.6106C>A, NM_015902.5:c.6106C>A, NM_001282873.1:c.6106C>A, NM_001282873.2:c.6106C>A, XM_005250962.6:c.3136C>A, XM_005250962.5:c.3136C>A, XM_005250962.4:c.3136C>A, XM_005250962.3:c.3136C>A, XM_005250962.2:c.3136C>A, XM_005250962.1:c.3136C>A, XM_024447178.2:c.5362C>A, XM_024447178.1:c.5362C>A, XM_024447179.2:c.5344C>A, XM_024447179.1:c.5344C>A, XM_047421849.1:c.5344C>A, XM_047421847.1:c.5362C>A, XM_047421848.1:c.5344C>A, NP_056986.2:p.Pro2036Thr, NP_001269802.1:p.Pro2036Thr, XP_005251019.1:p.Pro1046Thr, XP_024302946.1:p.Pro1788Thr, XP_024302947.1:p.Pro1782Thr, XP_047277805.1:p.Pro1782Thr, XP_047277803.1:p.Pro1788Thr, XP_047277804.1:p.Pro1782Thr

Select item 14854955159.

rs1485495515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:102275531 (GRCh38)
8:103287759 (GRCh37)
Canonical SPDI:: NC_000008.11:102275530:A:C
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102275531A>C, NC_000008.10:g.103287759A>C, NG_047152.1:g.142159T>G, NM_015902.6:c.6719T>G, NM_015902.5:c.6719T>G, NM_001282873.1:c.6719T>G, NM_001282873.2:c.6719T>G, XM_005250962.6:c.3749T>G, XM_005250962.5:c.3749T>G, XM_005250962.4:c.3749T>G, XM_005250962.3:c.3749T>G, XM_005250962.2:c.3749T>G, XM_005250962.1:c.3749T>G, XM_024447178.2:c.5975T>G, XM_024447178.1:c.5975T>G, XM_024447179.2:c.5957T>G, XM_024447179.1:c.5957T>G, XM_047421849.1:c.5957T>G, XM_047421847.1:c.5975T>G, XM_047421848.1:c.5957T>G, NP_056986.2:p.Leu2240Trp, NP_001269802.1:p.Leu2240Trp, XP_005251019.1:p.Leu1250Trp, XP_024302946.1:p.Leu1992Trp, XP_024302947.1:p.Leu1986Trp, XP_047277805.1:p.Leu1986Trp, XP_047277803.1:p.Leu1992Trp, XP_047277804.1:p.Leu1986Trp

Select item 148549177310.

rs1485491773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102293975 (GRCh38)
8:103306203 (GRCh37)
Canonical SPDI:: NC_000008.11:102293974:C:A
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102293975C>A, NC_000008.10:g.103306203C>A, NG_047152.1:g.123715G>T, NM_015902.6:c.4329G>T, NM_015902.5:c.4329G>T, NM_001282873.1:c.4329G>T, NM_001282873.2:c.4329G>T, XM_005250962.6:c.1359G>T, XM_005250962.5:c.1359G>T, XM_005250962.4:c.1359G>T, XM_005250962.3:c.1359G>T, XM_005250962.2:c.1359G>T, XM_005250962.1:c.1359G>T, XM_024447178.2:c.3585G>T, XM_024447178.1:c.3585G>T, XM_024447179.2:c.3567G>T, XM_024447179.1:c.3567G>T, XM_047421849.1:c.3567G>T, XM_047421847.1:c.3585G>T, XM_047421848.1:c.3567G>T, NP_056986.2:p.Met1443Ile, NP_001269802.1:p.Met1443Ile, XP_005251019.1:p.Met453Ile, XP_024302946.1:p.Met1195Ile, XP_024302947.1:p.Met1189Ile, XP_047277805.1:p.Met1189Ile, XP_047277803.1:p.Met1195Ile, XP_047277804.1:p.Met1189Ile

Select item 148454199711.

rs1484541997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:102297523 (GRCh38)
8:103309751 (GRCh37)
Canonical SPDI:: NC_000008.11:102297522:A:T
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.102297523A>T, NC_000008.10:g.103309751A>T, NG_047152.1:g.120167T>A, NM_015902.6:c.3508T>A, NM_015902.5:c.3508T>A, NM_001282873.1:c.3508T>A, NM_001282873.2:c.3508T>A, XM_005250962.6:c.538T>A, XM_005250962.5:c.538T>A, XM_005250962.4:c.538T>A, XM_005250962.3:c.538T>A, XM_005250962.2:c.538T>A, XM_005250962.1:c.538T>A, XM_024447178.2:c.2764T>A, XM_024447178.1:c.2764T>A, XM_024447179.2:c.2746T>A, XM_024447179.1:c.2746T>A, XM_047421849.1:c.2746T>A, XM_047421847.1:c.2764T>A, XM_047421848.1:c.2746T>A, NP_056986.2:p.Leu1170Ile, NP_001269802.1:p.Leu1170Ile, XP_005251019.1:p.Leu180Ile, XP_024302946.1:p.Leu922Ile, XP_024302947.1:p.Leu916Ile, XP_047277805.1:p.Leu916Ile, XP_047277803.1:p.Leu922Ile, XP_047277804.1:p.Leu916Ile

Select item 148423511512.

rs1484235115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102297546 (GRCh38)
8:103309774 (GRCh37)
Canonical SPDI:: NC_000008.11:102297545:C:T
Gene:: UBR5 (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=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.102297546C>T, NC_000008.10:g.103309774C>T, NG_047152.1:g.120144G>A, NM_015902.6:c.3485G>A, NM_015902.5:c.3485G>A, NM_001282873.1:c.3485G>A, NM_001282873.2:c.3485G>A, XM_005250962.6:c.515G>A, XM_005250962.5:c.515G>A, XM_005250962.4:c.515G>A, XM_005250962.3:c.515G>A, XM_005250962.2:c.515G>A, XM_005250962.1:c.515G>A, XM_024447178.2:c.2741G>A, XM_024447178.1:c.2741G>A, XM_024447179.2:c.2723G>A, XM_024447179.1:c.2723G>A, XM_047421849.1:c.2723G>A, XM_047421847.1:c.2741G>A, XM_047421848.1:c.2723G>A, NP_056986.2:p.Gly1162Asp, NP_001269802.1:p.Gly1162Asp, XP_005251019.1:p.Gly172Asp, XP_024302946.1:p.Gly914Asp, XP_024302947.1:p.Gly908Asp, XP_047277805.1:p.Gly908Asp, XP_047277803.1:p.Gly914Asp, XP_047277804.1:p.Gly908Asp

Select item 148378081413.

rs1483780814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:102313911 (GRCh38)
8:103326139 (GRCh37)
Canonical SPDI:: NC_000008.11:102313910:G:T
Gene:: UBR5 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102313911G>T, NC_000008.10:g.103326139G>T, NG_047152.1:g.103779C>A, NM_015902.6:c.1900C>A, NM_015902.5:c.1900C>A, NM_001282873.1:c.1900C>A, NM_001282873.2:c.1900C>A, XM_024447178.2:c.1156C>A, XM_024447178.1:c.1156C>A, XM_024447179.2:c.1138C>A, XM_024447179.1:c.1138C>A, XM_047421849.1:c.1138C>A, XM_047421847.1:c.1156C>A, XM_047421848.1:c.1138C>A

Select item 148355970214.

rs1483559702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:102298872 (GRCh38)
8:103311100 (GRCh37)
Canonical SPDI:: NC_000008.11:102298871:T:C
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102298872T>C, NC_000008.10:g.103311100T>C, NG_047152.1:g.118818A>G, NM_015902.6:c.3302A>G, NM_015902.5:c.3302A>G, NM_001282873.1:c.3302A>G, NM_001282873.2:c.3302A>G, XM_005250962.6:c.332A>G, XM_005250962.5:c.332A>G, XM_005250962.4:c.332A>G, XM_005250962.3:c.332A>G, XM_005250962.2:c.332A>G, XM_005250962.1:c.332A>G, XM_024447178.2:c.2558A>G, XM_024447178.1:c.2558A>G, XM_024447179.2:c.2540A>G, XM_024447179.1:c.2540A>G, XM_047421849.1:c.2540A>G, XM_047421847.1:c.2558A>G, XM_047421848.1:c.2540A>G, NP_056986.2:p.Tyr1101Cys, NP_001269802.1:p.Tyr1101Cys, XP_005251019.1:p.Tyr111Cys, XP_024302946.1:p.Tyr853Cys, XP_024302947.1:p.Tyr847Cys, XP_047277805.1:p.Tyr847Cys, XP_047277803.1:p.Tyr853Cys, XP_047277804.1:p.Tyr847Cys

Select item 148332814715.

rs1483328147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102261146 (GRCh38)
8:103273374 (GRCh37)
Canonical SPDI:: NC_000008.11:102261145:A:G
Gene:: UBR5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000009/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.102261146A>G, NC_000008.10:g.103273374A>G, NG_047152.1:g.156544T>C, NM_015902.6:c.7956T>C, NM_015902.5:c.7956T>C, NM_001282873.1:c.7953T>C, NM_001282873.2:c.7953T>C, XM_005250962.6:c.4992T>C, XM_005250962.5:c.4992T>C, XM_005250962.4:c.4992T>C, XM_005250962.3:c.4992T>C, XM_005250962.2:c.4992T>C, XM_005250962.1:c.4992T>C, XM_024447178.2:c.7218T>C, XM_024447178.1:c.7218T>C, XM_024447179.2:c.7200T>C, XM_024447179.1:c.7200T>C, XM_047421849.1:c.7194T>C, XM_047421847.1:c.7215T>C, XM_047421848.1:c.7197T>C

Select item 148252730716.

rs1482527307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102285572 (GRCh38)
8:103297800 (GRCh37)
Canonical SPDI:: NC_000008.11:102285571:C:T
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102285572C>T, NC_000008.10:g.103297800C>T, NG_047152.1:g.132118G>A, NM_015902.6:c.5425G>A, NM_015902.5:c.5425G>A, NM_001282873.1:c.5425G>A, NM_001282873.2:c.5425G>A, XM_005250962.6:c.2455G>A, XM_005250962.5:c.2455G>A, XM_005250962.4:c.2455G>A, XM_005250962.3:c.2455G>A, XM_005250962.2:c.2455G>A, XM_005250962.1:c.2455G>A, XM_024447178.2:c.4681G>A, XM_024447178.1:c.4681G>A, XM_024447179.2:c.4663G>A, XM_024447179.1:c.4663G>A, XM_047421849.1:c.4663G>A, XM_047421847.1:c.4681G>A, XM_047421848.1:c.4663G>A, NP_056986.2:p.Val1809Ile, NP_001269802.1:p.Val1809Ile, XP_005251019.1:p.Val819Ile, XP_024302946.1:p.Val1561Ile, XP_024302947.1:p.Val1555Ile, XP_047277805.1:p.Val1555Ile, XP_047277803.1:p.Val1561Ile, XP_047277804.1:p.Val1555Ile

Select item 148237423917.

rs1482374239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102265241 (GRCh38)
8:103277469 (GRCh37)
Canonical SPDI:: NC_000008.11:102265240:A:G
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102265241A>G, NC_000008.10:g.103277469A>G, NG_047152.1:g.152449T>C, NM_015902.6:c.7460T>C, NM_015902.5:c.7460T>C, NM_001282873.1:c.7457T>C, NM_001282873.2:c.7457T>C, XM_005250962.6:c.4496T>C, XM_005250962.5:c.4496T>C, XM_005250962.4:c.4496T>C, XM_005250962.3:c.4496T>C, XM_005250962.2:c.4496T>C, XM_005250962.1:c.4496T>C, XM_024447178.2:c.6722T>C, XM_024447178.1:c.6722T>C, XM_024447179.2:c.6704T>C, XM_024447179.1:c.6704T>C, XM_047421849.1:c.6698T>C, XM_047421847.1:c.6719T>C, XM_047421848.1:c.6701T>C, NP_056986.2:p.Val2487Ala, NP_001269802.1:p.Val2486Ala, XP_005251019.1:p.Val1499Ala, XP_024302946.1:p.Val2241Ala, XP_024302947.1:p.Val2235Ala, XP_047277805.1:p.Val2233Ala, XP_047277803.1:p.Val2240Ala, XP_047277804.1:p.Val2234Ala

Select item 148206224018.

rs1482062240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:102289574 (GRCh38)
8:103301802 (GRCh37)
Canonical SPDI:: NC_000008.11:102289573:G:A,NC_000008.11:102289573:G:C
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102289574G>A, NC_000008.11:g.102289574G>C, NC_000008.10:g.103301802G>A, NC_000008.10:g.103301802G>C, NG_047152.1:g.128116C>T, NG_047152.1:g.128116C>G, NM_015902.6:c.4592C>T, NM_015902.6:c.4592C>G, NM_015902.5:c.4592C>T, NM_015902.5:c.4592C>G, NM_001282873.1:c.4592C>T, NM_001282873.1:c.4592C>G, NM_001282873.2:c.4592C>T, NM_001282873.2:c.4592C>G, XM_005250962.6:c.1622C>T, XM_005250962.6:c.1622C>G, XM_005250962.5:c.1622C>T, XM_005250962.5:c.1622C>G, XM_005250962.4:c.1622C>T, XM_005250962.4:c.1622C>G, XM_005250962.3:c.1622C>T, XM_005250962.3:c.1622C>G, XM_005250962.2:c.1622C>T, XM_005250962.2:c.1622C>G, XM_005250962.1:c.1622C>T, XM_005250962.1:c.1622C>G, XM_024447178.2:c.3848C>T, XM_024447178.2:c.3848C>G, XM_024447178.1:c.3848C>T, XM_024447178.1:c.3848C>G, XM_024447179.2:c.3830C>T, XM_024447179.2:c.3830C>G, XM_024447179.1:c.3830C>T, XM_024447179.1:c.3830C>G, XM_047421849.1:c.3830C>T, XM_047421849.1:c.3830C>G, XM_047421847.1:c.3848C>T, XM_047421847.1:c.3848C>G, XM_047421848.1:c.3830C>T, XM_047421848.1:c.3830C>G, NP_056986.2:p.Ser1531Phe, NP_056986.2:p.Ser1531Cys, NP_001269802.1:p.Ser1531Phe, NP_001269802.1:p.Ser1531Cys, XP_005251019.1:p.Ser541Phe, XP_005251019.1:p.Ser541Cys, XP_024302946.1:p.Ser1283Phe, XP_024302946.1:p.Ser1283Cys, XP_024302947.1:p.Ser1277Phe, XP_024302947.1:p.Ser1277Cys, XP_047277805.1:p.Ser1277Phe, XP_047277805.1:p.Ser1277Cys, XP_047277803.1:p.Ser1283Phe, XP_047277803.1:p.Ser1283Cys, XP_047277804.1:p.Ser1277Phe, XP_047277804.1:p.Ser1277Cys

Select item 148083099019.

rs1480830990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102269020 (GRCh38)
8:103281248 (GRCh37)
Canonical SPDI:: NC_000008.11:102269019:G:A
Gene:: UBR5 (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=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.102269020G>A, NC_000008.10:g.103281248G>A, NG_047152.1:g.148670C>T, NM_015902.6:c.7319C>T, NM_015902.5:c.7319C>T, NM_001282873.1:c.7319C>T, NM_001282873.2:c.7319C>T, XM_005250962.6:c.4355C>T, XM_005250962.5:c.4355C>T, XM_005250962.4:c.4355C>T, XM_005250962.3:c.4355C>T, XM_005250962.2:c.4355C>T, XM_005250962.1:c.4355C>T, XM_024447178.2:c.6581C>T, XM_024447178.1:c.6581C>T, XM_024447179.2:c.6563C>T, XM_024447179.1:c.6563C>T, XM_047421849.1:c.6557C>T, XM_047421847.1:c.6581C>T, XM_047421848.1:c.6563C>T, NP_056986.2:p.Ala2440Val, NP_001269802.1:p.Ala2440Val, XP_005251019.1:p.Ala1452Val, XP_024302946.1:p.Ala2194Val, XP_024302947.1:p.Ala2188Val, XP_047277805.1:p.Ala2186Val, XP_047277803.1:p.Ala2194Val, XP_047277804.1:p.Ala2188Val

Select item 148073545520.

rs1480735455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102329131 (GRCh38)
8:103341359 (GRCh37)
Canonical SPDI:: NC_000008.11:102329130:C:A
Gene:: UBR5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.102329131C>A, NC_000008.10:g.103341359C>A, NG_047152.1:g.88559G>T, NM_015902.6:c.1285G>T, NM_015902.5:c.1285G>T, NM_001282873.1:c.1285G>T, NM_001282873.2:c.1285G>T, XM_024447178.2:c.541G>T, XM_024447178.1:c.541G>T, XM_024447179.2:c.523G>T, XM_024447179.1:c.523G>T, XM_047421849.1:c.523G>T, XM_047421847.1:c.541G>T, XM_047421848.1:c.523G>T, NP_056986.2:p.Ala429Ser, NP_001269802.1:p.Ala429Ser, XP_024302946.1:p.Ala181Ser, XP_024302947.1:p.Ala175Ser, XP_047277805.1:p.Ala175Ser, XP_047277803.1:p.Ala181Ser, XP_047277804.1:p.Ala175Ser

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Result Filters

Clinical Significance

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Items: 1 to 20 of 1831

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