SNP Links for Protein (Select 530409021) - SNP

Links from Protein

Items: 1 to 20 of 161

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Select item 14891421231.

rs1489142123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1314058 (GRCh38)
16:1364059 (GRCh37)
Canonical SPDI:: NC_000016.10:1314057:G:A
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1314058G>A, NC_000016.9:g.1364059G>A, NM_003345.5:c.28G>A, NM_003345.4:c.28G>A, XM_011522644.3:c.28G>A, XM_011522644.2:c.28G>A, XM_011522644.1:c.28G>A, XM_005255540.3:c.28G>A, XM_005255540.2:c.28G>A, XM_005255540.1:c.28G>A, NM_194259.3:c.28G>A, NM_194259.2:c.28G>A, NM_194260.3:c.28G>A, NM_194260.2:c.28G>A, NM_194261.3:c.28G>A, NM_194261.2:c.28G>A, XM_011522645.2:c.28G>A, XM_011522645.1:c.28G>A, XM_047434585.1:c.28G>A, XM_047434584.1:c.28G>A, NP_003336.1:p.Ala10Thr, XP_011520946.1:p.Ala10Thr, XP_005255597.1:p.Ala10Thr, NP_919235.1:p.Ala10Thr, NP_919236.1:p.Ala10Thr, NP_919237.1:p.Ala10Thr, XP_011520947.1:p.Ala10Thr, XP_047290541.1:p.Ala10Thr, XP_047290540.1:p.Ala10Thr

Select item 14779334562.

rs1477933456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1320575 (GRCh38)
16:1370576 (GRCh37)
Canonical SPDI:: NC_000016.10:1320574:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1320575C>T, NC_000016.9:g.1370576C>T, XM_011522644.3:c.471C>T, XM_011522644.2:c.471C>T, XM_011522644.1:c.471C>T, XM_005255540.3:c.471C>T, XM_005255540.2:c.471C>T, XM_005255540.1:c.471C>T, XM_011522645.2:c.471C>T, XM_011522645.1:c.471C>T, XM_047434585.1:c.471C>T, XM_047434584.1:c.471C>T

Select item 14692081633.

rs1469208163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1320655 (GRCh38)
16:1370656 (GRCh37)
Canonical SPDI:: NC_000016.10:1320654:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320655C>T, NC_000016.9:g.1370656C>T, XM_011522644.3:c.551C>T, XM_011522644.2:c.551C>T, XM_011522644.1:c.551C>T, XM_005255540.3:c.551C>T, XM_005255540.2:c.551C>T, XM_005255540.1:c.551C>T, XM_011522645.2:c.551C>T, XM_011522645.1:c.551C>T, XM_047434585.1:c.551C>T, XM_047434584.1:c.551C>T, XP_011520946.1:p.Ala184Val, XP_005255597.1:p.Ala184Val, XP_011520947.1:p.Ala184Val, XP_047290541.1:p.Ala184Val, XP_047290540.1:p.Ala184Val

Select item 14691498614.

rs1469149861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1320595 (GRCh38)
16:1370596 (GRCh37)
Canonical SPDI:: NC_000016.10:1320594:G:A
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1320595G>A, NC_000016.9:g.1370596G>A, XM_011522644.3:c.491G>A, XM_011522644.2:c.491G>A, XM_011522644.1:c.491G>A, XM_005255540.3:c.491G>A, XM_005255540.2:c.491G>A, XM_005255540.1:c.491G>A, XM_011522645.2:c.491G>A, XM_011522645.1:c.491G>A, XM_047434585.1:c.491G>A, XM_047434584.1:c.491G>A, XP_011520946.1:p.Arg164Lys, XP_005255597.1:p.Arg164Lys, XP_011520947.1:p.Arg164Lys, XP_047290541.1:p.Arg164Lys, XP_047290540.1:p.Arg164Lys

Select item 14678287035.

rs1467828703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1320653 (GRCh38)
16:1370654 (GRCh37)
Canonical SPDI:: NC_000016.10:1320652:G:A
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000016.10:g.1320653G>A, NC_000016.9:g.1370654G>A, XM_011522644.3:c.549G>A, XM_011522644.2:c.549G>A, XM_011522644.1:c.549G>A, XM_005255540.3:c.549G>A, XM_005255540.2:c.549G>A, XM_005255540.1:c.549G>A, XM_011522645.2:c.549G>A, XM_011522645.1:c.549G>A, XM_047434585.1:c.549G>A, XM_047434584.1:c.549G>A

Select item 14492987346.

rs1449298734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1314046 (GRCh38)
16:1364047 (GRCh37)
Canonical SPDI:: NC_000016.10:1314045:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.1314046C>T, NC_000016.9:g.1364047C>T, NM_003345.5:c.16C>T, NM_003345.4:c.16C>T, XM_011522644.3:c.16C>T, XM_011522644.2:c.16C>T, XM_011522644.1:c.16C>T, XM_005255540.3:c.16C>T, XM_005255540.2:c.16C>T, XM_005255540.1:c.16C>T, NM_194259.3:c.16C>T, NM_194259.2:c.16C>T, NM_194260.3:c.16C>T, NM_194260.2:c.16C>T, NM_194261.3:c.16C>T, NM_194261.2:c.16C>T, XM_011522645.2:c.16C>T, XM_011522645.1:c.16C>T, XM_047434585.1:c.16C>T, XM_047434584.1:c.16C>T, NP_003336.1:p.Leu6Phe, XP_011520946.1:p.Leu6Phe, XP_005255597.1:p.Leu6Phe, NP_919235.1:p.Leu6Phe, NP_919236.1:p.Leu6Phe, NP_919237.1:p.Leu6Phe, XP_011520947.1:p.Leu6Phe, XP_047290541.1:p.Leu6Phe, XP_047290540.1:p.Leu6Phe

Select item 14457007587.

rs1445700758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:1320638 (GRCh38)
16:1370639 (GRCh37)
Canonical SPDI:: NC_000016.10:1320637:T:C,NC_000016.10:1320637:T:G
Gene:: UBE2I (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320638T>C, NC_000016.10:g.1320638T>G, NC_000016.9:g.1370639T>C, NC_000016.9:g.1370639T>G, XM_011522644.3:c.534T>C, XM_011522644.3:c.534T>G, XM_011522644.2:c.534T>C, XM_011522644.2:c.534T>G, XM_011522644.1:c.534T>C, XM_011522644.1:c.534T>G, XM_005255540.3:c.534T>C, XM_005255540.3:c.534T>G, XM_005255540.2:c.534T>C, XM_005255540.2:c.534T>G, XM_005255540.1:c.534T>C, XM_005255540.1:c.534T>G, XM_011522645.2:c.534T>C, XM_011522645.2:c.534T>G, XM_011522645.1:c.534T>C, XM_011522645.1:c.534T>G, XM_047434585.1:c.534T>C, XM_047434585.1:c.534T>G, XM_047434584.1:c.534T>C, XM_047434584.1:c.534T>G, XP_011520946.1:p.Cys178Trp, XP_005255597.1:p.Cys178Trp, XP_011520947.1:p.Cys178Trp, XP_047290541.1:p.Cys178Trp, XP_047290540.1:p.Cys178Trp

Select item 14315185018.

rs1431518501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1320230 (GRCh38)
16:1370231 (GRCh37)
Canonical SPDI:: NC_000016.10:1320229:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320230C>T, NC_000016.9:g.1370231C>T, NM_003345.5:c.280C>T, NM_003345.4:c.280C>T, XM_011522644.3:c.280C>T, XM_011522644.2:c.280C>T, XM_011522644.1:c.280C>T, XM_005255540.3:c.280C>T, XM_005255540.2:c.280C>T, XM_005255540.1:c.280C>T, NM_194259.3:c.280C>T, NM_194259.2:c.280C>T, NM_194260.3:c.280C>T, NM_194260.2:c.280C>T, NM_194261.3:c.280C>T, NM_194261.2:c.280C>T, XM_011522645.2:c.280C>T, XM_011522645.1:c.280C>T, XM_047434585.1:c.280C>T, XM_047434584.1:c.280C>T

Select item 14206710379.

rs1420671037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1320531 (GRCh38)
16:1370532 (GRCh37)
Canonical SPDI:: NC_000016.10:1320530:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320531C>T, NC_000016.9:g.1370532C>T, XM_011522644.3:c.427C>T, XM_011522644.2:c.427C>T, XM_011522644.1:c.427C>T, XM_005255540.3:c.427C>T, XM_005255540.2:c.427C>T, XM_005255540.1:c.427C>T, XM_011522645.2:c.427C>T, XM_011522645.1:c.427C>T, XM_047434585.1:c.427C>T, XM_047434584.1:c.427C>T

Select item 141548969310.

rs1415489693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1314334 (GRCh38)
16:1364335 (GRCh37)
Canonical SPDI:: NC_000016.10:1314333:G:A
Gene:: UBE2I (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1314334G>A, NC_000016.9:g.1364335G>A, NM_003345.5:c.108G>A, NM_003345.4:c.108G>A, XM_011522644.3:c.108G>A, XM_011522644.2:c.108G>A, XM_011522644.1:c.108G>A, XM_005255540.3:c.108G>A, XM_005255540.2:c.108G>A, XM_005255540.1:c.108G>A, NM_194259.3:c.108G>A, NM_194259.2:c.108G>A, NM_194260.3:c.108G>A, NM_194260.2:c.108G>A, NM_194261.3:c.108G>A, NM_194261.2:c.108G>A, XM_011522645.2:c.108G>A, XM_011522645.1:c.108G>A, XM_047434585.1:c.108G>A, XM_047434584.1:c.108G>A, NP_003336.1:p.Met36Ile, XP_011520946.1:p.Met36Ile, XP_005255597.1:p.Met36Ile, NP_919235.1:p.Met36Ile, NP_919236.1:p.Met36Ile, NP_919237.1:p.Met36Ile, XP_011520947.1:p.Met36Ile, XP_047290541.1:p.Met36Ile, XP_047290540.1:p.Met36Ile

Select item 141422370211.

rs1414223702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:1320533 (GRCh38)
16:1370534 (GRCh37)
Canonical SPDI:: NC_000016.10:1320532:G:T
Gene:: UBE2I (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320533G>T, NC_000016.9:g.1370534G>T, XM_011522644.3:c.429G>T, XM_011522644.2:c.429G>T, XM_011522644.1:c.429G>T, XM_005255540.3:c.429G>T, XM_005255540.2:c.429G>T, XM_005255540.1:c.429G>T, XM_011522645.2:c.429G>T, XM_011522645.1:c.429G>T, XM_047434585.1:c.429G>T, XM_047434584.1:c.429G>T

Select item 140912356212.

rs1409123562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1315704 (GRCh38)
16:1365705 (GRCh37)
Canonical SPDI:: NC_000016.10:1315703:T:C
Gene:: UBE2I (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1315704T>C, NC_000016.9:g.1365705T>C, NM_003345.5:c.201T>C, NM_003345.4:c.201T>C, XM_011522644.3:c.201T>C, XM_011522644.2:c.201T>C, XM_011522644.1:c.201T>C, XM_005255540.3:c.201T>C, XM_005255540.2:c.201T>C, XM_005255540.1:c.201T>C, NM_194259.3:c.201T>C, NM_194259.2:c.201T>C, NM_194260.3:c.201T>C, NM_194260.2:c.201T>C, NM_194261.3:c.201T>C, NM_194261.2:c.201T>C, XM_011522645.2:c.201T>C, XM_011522645.1:c.201T>C, XM_047434585.1:c.201T>C, XM_047434584.1:c.201T>C

Select item 140189933313.

rs1401899333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1320583 (GRCh38)
16:1370584 (GRCh37)
Canonical SPDI:: NC_000016.10:1320582:G:A
Gene:: UBE2I (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320583G>A, NC_000016.9:g.1370584G>A, XM_011522644.3:c.479G>A, XM_011522644.2:c.479G>A, XM_011522644.1:c.479G>A, XM_005255540.3:c.479G>A, XM_005255540.2:c.479G>A, XM_005255540.1:c.479G>A, XM_011522645.2:c.479G>A, XM_011522645.1:c.479G>A, XM_047434585.1:c.479G>A, XM_047434584.1:c.479G>A, XP_011520946.1:p.Gly160Glu, XP_005255597.1:p.Gly160Glu, XP_011520947.1:p.Gly160Glu, XP_047290541.1:p.Gly160Glu, XP_047290540.1:p.Gly160Glu

Select item 139498054814.

rs1394980548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1320635 (GRCh38)
16:1370636 (GRCh37)
Canonical SPDI:: NC_000016.10:1320634:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1320635C>T, NC_000016.9:g.1370636C>T, XM_011522644.3:c.531C>T, XM_011522644.2:c.531C>T, XM_011522644.1:c.531C>T, XM_005255540.3:c.531C>T, XM_005255540.2:c.531C>T, XM_005255540.1:c.531C>T, XM_011522645.2:c.531C>T, XM_011522645.1:c.531C>T, XM_047434585.1:c.531C>T, XM_047434584.1:c.531C>T

Select item 138965552715.

rs1389655527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1320631 (GRCh38)
16:1370632 (GRCh37)
Canonical SPDI:: NC_000016.10:1320630:G:A
Gene:: UBE2I (Varview)
Functional Consequence:: intron_variant,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)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320631G>A, NC_000016.9:g.1370632G>A, XM_011522644.3:c.527G>A, XM_011522644.2:c.527G>A, XM_011522644.1:c.527G>A, XM_005255540.3:c.527G>A, XM_005255540.2:c.527G>A, XM_005255540.1:c.527G>A, XM_011522645.2:c.527G>A, XM_011522645.1:c.527G>A, XM_047434585.1:c.527G>A, XM_047434584.1:c.527G>A, XP_011520946.1:p.Arg176His, XP_005255597.1:p.Arg176His, XP_011520947.1:p.Arg176His, XP_047290541.1:p.Arg176His, XP_047290540.1:p.Arg176His

Select item 138893095316.

rs1388930953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1320238 (GRCh38)
16:1370239 (GRCh37)
Canonical SPDI:: NC_000016.10:1320237:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320238C>T, NC_000016.9:g.1370239C>T, NM_003345.5:c.288C>T, NM_003345.4:c.288C>T, XM_011522644.3:c.288C>T, XM_011522644.2:c.288C>T, XM_011522644.1:c.288C>T, XM_005255540.3:c.288C>T, XM_005255540.2:c.288C>T, XM_005255540.1:c.288C>T, NM_194259.3:c.288C>T, NM_194259.2:c.288C>T, NM_194260.3:c.288C>T, NM_194260.2:c.288C>T, NM_194261.3:c.288C>T, NM_194261.2:c.288C>T, XM_011522645.2:c.288C>T, XM_011522645.1:c.288C>T, XM_047434585.1:c.288C>T, XM_047434584.1:c.288C>T

Select item 138088230117.

rs1380882301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:1314074 (GRCh38)
16:1364075 (GRCh37)
Canonical SPDI:: NC_000016.10:1314073:C:A
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1314074C>A, NC_000016.9:g.1364075C>A, NM_003345.5:c.44C>A, NM_003345.4:c.44C>A, XM_011522644.3:c.44C>A, XM_011522644.2:c.44C>A, XM_011522644.1:c.44C>A, XM_005255540.3:c.44C>A, XM_005255540.2:c.44C>A, XM_005255540.1:c.44C>A, NM_194259.3:c.44C>A, NM_194259.2:c.44C>A, NM_194260.3:c.44C>A, NM_194260.2:c.44C>A, NM_194261.3:c.44C>A, NM_194261.2:c.44C>A, XM_011522645.2:c.44C>A, XM_011522645.1:c.44C>A, XM_047434585.1:c.44C>A, XM_047434584.1:c.44C>A, NP_003336.1:p.Ala15Glu, XP_011520946.1:p.Ala15Glu, XP_005255597.1:p.Ala15Glu, NP_919235.1:p.Ala15Glu, NP_919236.1:p.Ala15Glu, NP_919237.1:p.Ala15Glu, XP_011520947.1:p.Ala15Glu, XP_047290541.1:p.Ala15Glu, XP_047290540.1:p.Ala15Glu

Select item 137968742318.

rs1379687423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1320211 (GRCh38)
16:1370212 (GRCh37)
Canonical SPDI:: NC_000016.10:1320210:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1320211C>T, NC_000016.9:g.1370212C>T, NM_003345.5:c.261C>T, NM_003345.4:c.261C>T, XM_011522644.3:c.261C>T, XM_011522644.2:c.261C>T, XM_011522644.1:c.261C>T, XM_005255540.3:c.261C>T, XM_005255540.2:c.261C>T, XM_005255540.1:c.261C>T, NM_194259.3:c.261C>T, NM_194259.2:c.261C>T, NM_194260.3:c.261C>T, NM_194260.2:c.261C>T, NM_194261.3:c.261C>T, NM_194261.2:c.261C>T, XM_011522645.2:c.261C>T, XM_011522645.1:c.261C>T, XM_047434585.1:c.261C>T, XM_047434584.1:c.261C>T

Select item 137883890319.

rs1378838903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1315684 (GRCh38)
16:1365685 (GRCh37)
Canonical SPDI:: NC_000016.10:1315683:C:T
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1315684C>T, NC_000016.9:g.1365685C>T, NM_003345.5:c.181C>T, NM_003345.4:c.181C>T, XM_011522644.3:c.181C>T, XM_011522644.2:c.181C>T, XM_011522644.1:c.181C>T, XM_005255540.3:c.181C>T, XM_005255540.2:c.181C>T, XM_005255540.1:c.181C>T, NM_194259.3:c.181C>T, NM_194259.2:c.181C>T, NM_194260.3:c.181C>T, NM_194260.2:c.181C>T, NM_194261.3:c.181C>T, NM_194261.2:c.181C>T, XM_011522645.2:c.181C>T, XM_011522645.1:c.181C>T, XM_047434585.1:c.181C>T, XM_047434584.1:c.181C>T, NP_003336.1:p.Arg61Trp, XP_011520946.1:p.Arg61Trp, XP_005255597.1:p.Arg61Trp, NP_919235.1:p.Arg61Trp, NP_919236.1:p.Arg61Trp, NP_919237.1:p.Arg61Trp, XP_011520947.1:p.Arg61Trp, XP_047290541.1:p.Arg61Trp, XP_047290540.1:p.Arg61Trp

Select item 137138384420.

rs1371383844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1320597 (GRCh38)
16:1370598 (GRCh37)
Canonical SPDI:: NC_000016.10:1320596:A:G
Gene:: UBE2I (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1320597A>G, NC_000016.9:g.1370598A>G, XM_011522644.3:c.493A>G, XM_011522644.2:c.493A>G, XM_011522644.1:c.493A>G, XM_005255540.3:c.493A>G, XM_005255540.2:c.493A>G, XM_005255540.1:c.493A>G, XM_011522645.2:c.493A>G, XM_011522645.1:c.493A>G, XM_047434585.1:c.493A>G, XM_047434584.1:c.493A>G, XP_011520946.1:p.Thr165Ala, XP_005255597.1:p.Thr165Ala, XP_011520947.1:p.Thr165Ala, XP_047290541.1:p.Thr165Ala, XP_047290540.1:p.Thr165Ala

dbSNP

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