SNP Links for Protein (Select 346422495) - SNP

Links from Protein

Items: 1 to 20 of 139

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Select item 14881595191.

rs1488159519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:63317832 (GRCh38)
14:63784546 (GRCh37)
Canonical SPDI:: NC_000014.9:63317831:G:T
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.63317832G>T, NC_000014.8:g.63784546G>T, NM_145171.4:c.18C>A, NM_145171.3:c.18C>A

Select item 14867100982.

rs1486710098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:63313026 (GRCh38)
14:63779740 (GRCh37)
Canonical SPDI:: NC_000014.9:63313025:A:G
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.63313026A>G, NC_000014.8:g.63779740A>G, NM_145171.4:c.295T>C, NM_145171.3:c.295T>C, NP_660154.3:p.Cys99Arg

Select item 14850704643.

rs1485070464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:63313057 (GRCh38)
14:63779771 (GRCh37)
Canonical SPDI:: NC_000014.9:63313056:C:G
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.63313057C>G, NC_000014.8:g.63779771C>G, NM_145171.4:c.264G>C, NM_145171.3:c.264G>C, NP_660154.3:p.Glu88Asp

Select item 14808317964.

rs1480831796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:63313016 (GRCh38)
14:63779730 (GRCh37)
Canonical SPDI:: NC_000014.9:63313015:C:T
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.63313016C>T, NC_000014.8:g.63779730C>T, NM_145171.4:c.305G>A, NM_145171.3:c.305G>A, NP_660154.3:p.Gly102Glu

Select item 14761911805.

rs1476191180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:63312977 (GRCh38)
14:63779691 (GRCh37)
Canonical SPDI:: NC_000014.9:63312976:C:T
Gene:: GPHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.63312977C>T, NC_000014.8:g.63779691C>T, NM_145171.4:c.344G>A, NM_145171.3:c.344G>A, NP_660154.3:p.Cys115Tyr

Select item 14729554916.

rs1472955491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:63317766 (GRCh38)
14:63784480 (GRCh37)
Canonical SPDI:: NC_000014.9:63317765:C:T
Gene:: GPHB5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.63317766C>T, NC_000014.8:g.63784480C>T, NM_145171.4:c.84G>A, NM_145171.3:c.84G>A

Select item 14669787387.

rs1466978738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:63313063 (GRCh38)
14:63779777 (GRCh37)
Canonical SPDI:: NC_000014.9:63313062:G:A,NC_000014.9:63313062:G:T
Gene:: GPHB5 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.63313063G>A, NC_000014.9:g.63313063G>T, NC_000014.8:g.63779777G>A, NC_000014.8:g.63779777G>T, NM_145171.4:c.258C>T, NM_145171.4:c.258C>A, NM_145171.3:c.258C>T, NM_145171.3:c.258C>A, NP_660154.3:p.Tyr86Ter

Select item 14518508418.

rs1451850841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:63312987 (GRCh38)
14:63779701 (GRCh37)
Canonical SPDI:: NC_000014.9:63312986:C:A
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.63312987C>A, NC_000014.8:g.63779701C>A, NM_145171.4:c.334G>T, NM_145171.3:c.334G>T, NP_660154.3:p.Ala112Ser

Select item 14353192499.

rs1435319249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:63317805 (GRCh38)
14:63784519 (GRCh37)
Canonical SPDI:: NC_000014.9:63317804:A:C
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.63317805A>C, NC_000014.8:g.63784519A>C, NM_145171.4:c.45T>G, NM_145171.3:c.45T>G

Select item 141761544810.

rs1417615448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:63313035 (GRCh38)
14:63779749 (GRCh37)
Canonical SPDI:: NC_000014.9:63313034:G:A
Gene:: GPHB5 (Varview)
Functional Consequence:: synonymous_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)
HGVS:: NC_000014.9:g.63313035G>A, NC_000014.8:g.63779749G>A, NM_145171.4:c.286C>T, NM_145171.3:c.286C>T

Select item 141603700611.

rs1416037006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:63313009 (GRCh38)
14:63779723 (GRCh37)
Canonical SPDI:: NC_000014.9:63313008:G:A
Gene:: GPHB5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.63313009G>A, NC_000014.8:g.63779723G>A, NM_145171.4:c.312C>T, NM_145171.3:c.312C>T

Select item 138938719612.

rs1389387196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:63313070 (GRCh38)
14:63779784 (GRCh37)
Canonical SPDI:: NC_000014.9:63313069:C:G
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.63313070C>G, NC_000014.8:g.63779784C>G, NM_145171.4:c.251G>C, NM_145171.3:c.251G>C, NP_660154.3:p.Cys84Ser

Select item 138372616413.

rs1383726164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:63313097 (GRCh38)
14:63779811 (GRCh37)
Canonical SPDI:: NC_000014.9:63313096:G:A
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.63313097G>A, NC_000014.8:g.63779811G>A, NM_145171.4:c.224C>T, NM_145171.3:c.224C>T, NP_660154.3:p.Pro75Leu

Select item 138132311914.

rs1381323119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:63313048 (GRCh38)
14:63779762 (GRCh37)
Canonical SPDI:: NC_000014.9:63313047:C:T
Gene:: GPHB5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.63313048C>T, NC_000014.8:g.63779762C>T, NM_145171.4:c.273G>A, NM_145171.3:c.273G>A

Select item 138083269115.

rs1380832691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:63312933 (GRCh38)
14:63779647 (GRCh37)
Canonical SPDI:: NC_000014.9:63312932:T:C
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.63312933T>C, NC_000014.8:g.63779647T>C, NM_145171.4:c.388A>G, NM_145171.3:c.388A>G, NP_660154.3:p.Ile130Val

Select item 137738578716.

rs1377385787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:63313074 (GRCh38)
14:63779788 (GRCh37)
Canonical SPDI:: NC_000014.9:63313073:C:T
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.63313074C>T, NC_000014.8:g.63779788C>T, NM_145171.4:c.247G>A, NM_145171.3:c.247G>A, NP_660154.3:p.Val83Ile

Select item 137494281817.

rs1374942818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:63317716 (GRCh38)
14:63784430 (GRCh37)
Canonical SPDI:: NC_000014.9:63317715:G:A
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.63317716G>A, NC_000014.8:g.63784430G>A, NM_145171.4:c.134C>T, NM_145171.3:c.134C>T, NP_660154.3:p.Ala45Val

Select item 137200773018.

rs1372007730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:63313104 (GRCh38)
14:63779818 (GRCh37)
Canonical SPDI:: NC_000014.9:63313103:C:T
Gene:: GPHB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000014.9:g.63313104C>T, NC_000014.8:g.63779818C>T, NM_145171.4:c.217G>A, NM_145171.3:c.217G>A, NP_660154.3:p.Glu73Lys

Select item 136284524219.

rs1362845242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:63312941 (GRCh38)
14:63779655 (GRCh37)
Canonical SPDI:: NC_000014.9:63312940:C:G,NC_000014.9:63312940:C:T
Gene:: GPHB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.63312941C>G, NC_000014.9:g.63312941C>T, NC_000014.8:g.63779655C>G, NC_000014.8:g.63779655C>T, NM_145171.4:c.380G>C, NM_145171.4:c.380G>A, NM_145171.3:c.380G>C, NM_145171.3:c.380G>A, NP_660154.3:p.Cys127Ser, NP_660154.3:p.Cys127Tyr

Select item 135983061720.

rs1359830617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:63317646 (GRCh38)
14:63784361 (GRCh37)
Canonical SPDI:: NC_000014.9:63317645:C:T
Gene:: GPHB5 (Varview)
Functional Consequence:: synonymous_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_000014.9:g.63317646C>T, NC_000014.8:g.63784361C>T, NM_145171.4:c.204G>A, NM_145171.3:c.204G>A

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