SNP Links for Protein (Select 13376245) - SNP

Select item 14851691591.

rs1485169159 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCCTACCG [Show Flanks]
Chromosome:: 17:36586191 (GRCh38)
17:34942622 (GRCh37)
Canonical SPDI:: NC_000017.11:36586191::GCCTACCG
Gene:: GGNBP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.36586191_36586192insGCCTACCG, NC_000017.10:g.34942621_34942622insGCCTACCG, NT_187614.1:g.821686_821687insGCCTACCG, NW_003315949.1:g.471530_471531insGCCTACCG, NM_024835.5:c.1634_1635insGCCTACCG, NM_024835.4:c.1634_1635insGCCTACCG, XM_005257689.4:c.1640_1641insGCCTACCG, XM_005257689.3:c.1640_1641insGCCTACCG, XM_005257689.2:c.1640_1641insGCCTACCG, XM_005257689.1:c.1640_1641insGCCTACCG, XM_011525265.4:c.1547_1548insGCCTACCG, XM_011525265.3:c.1547_1548insGCCTACCG, XM_011525265.2:c.1547_1548insGCCTACCG, XM_011525265.1:c.1547_1548insGCCTACCG, XM_011525266.3:c.1526_1527insGCCTACCG, XM_011525266.2:c.1526_1527insGCCTACCG, XM_011525266.1:c.1526_1527insGCCTACCG, XM_047436774.1:c.1520_1521insGCCTACCG, XM_047436775.1:c.1427_1428insGCCTACCG, XM_017025107.2:c.1541_1542insGCCTACCG, XM_017025107.1:c.1541_1542insGCCTACCG, NP_079111.1:p.Asp545fs, XP_005257746.1:p.Asp547fs, XP_011523567.1:p.Asp516fs, XP_011523568.1:p.Asp509fs, XP_047292730.1:p.Asp507fs, XP_047292731.1:p.Asp476fs, XP_016880596.1:p.Asp514fs

Select item 14844917192.

rs1484491719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36579348 (GRCh38)
17:34935778 (GRCh37)
Canonical SPDI:: NC_000017.11:36579347:C:T
Gene:: GGNBP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36579348C>T, NC_000017.10:g.34935778C>T, NT_187614.1:g.814843C>T, NW_003315949.1:g.464687C>T, NM_024835.5:c.949C>T, NM_024835.4:c.949C>T, XM_005257689.4:c.955C>T, XM_005257689.3:c.955C>T, XM_005257689.2:c.955C>T, XM_005257689.1:c.955C>T, XM_011525265.4:c.862C>T, XM_011525265.3:c.862C>T, XM_011525265.2:c.862C>T, XM_011525265.1:c.862C>T, XM_011525266.3:c.841C>T, XM_011525266.2:c.841C>T, XM_011525266.1:c.841C>T, XM_047436774.1:c.835C>T, XM_047436775.1:c.742C>T, XM_017025107.2:c.856C>T, XM_017025107.1:c.856C>T

Select item 14817254883.

rs1481725488 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTG [Show Flanks]
Chromosome:: 17:36557175 (GRCh38)
17:34913016 (GRCh37)
Canonical SPDI:: NC_000017.11:36557175:GTTGGTTG:GTTGGTTGGTTG
Gene:: GGNBP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GTTGGTTGGTTG=0./0 (ALFA)
GTTG=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36557176GTTG[3], NT_187614.1:g.792080GTTG[3], NW_003315949.1:g.441924GTTG[3], NC_000017.10:g.34913016GTTG[3], NM_024835.5:c.272_275dup, NM_024835.4:c.272_275dup, XM_005257689.4:c.272_275dup, XM_005257689.3:c.272_275dup, XM_005257689.2:c.272_275dup, XM_005257689.1:c.272_275dup, XM_011525265.4:c.179_182dup, XM_011525265.3:c.179_182dup, XM_011525265.2:c.179_182dup, XM_011525265.1:c.179_182dup, XM_011525266.3:c.272_275dup, XM_011525266.2:c.272_275dup, XM_011525266.1:c.272_275dup, XM_047436774.1:c.272_275dup, XM_047436775.1:c.179_182dup, XM_017025107.2:c.179_182dup, XM_017025107.1:c.179_182dup, NP_079111.1:p.Cys92fs, XP_005257746.1:p.Cys92fs, XP_011523567.1:p.Cys61fs, XP_011523568.1:p.Cys92fs, XP_047292730.1:p.Cys92fs, XP_047292731.1:p.Cys61fs, XP_016880596.1:p.Cys61fs

Select item 14789768514.

rs1478976851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:36587202 (GRCh38)
17:34943632 (GRCh37)
Canonical SPDI:: NC_000017.11:36587201:G:A,NC_000017.11:36587201:G:T
Gene:: GGNBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36587202G>A, NC_000017.11:g.36587202G>T, NC_000017.10:g.34943632G>A, NC_000017.10:g.34943632G>T, NT_187614.1:g.822697G>A, NT_187614.1:g.822697G>T, NW_003315949.1:g.472541G>A, NW_003315949.1:g.472541G>T, NM_024835.5:c.1847G>A, NM_024835.5:c.1847G>T, NM_024835.4:c.1847G>A, NM_024835.4:c.1847G>T, XM_005257689.4:c.1853G>A, XM_005257689.4:c.1853G>T, XM_005257689.3:c.1853G>A, XM_005257689.3:c.1853G>T, XM_005257689.2:c.1853G>A, XM_005257689.2:c.1853G>T, XM_005257689.1:c.1853G>A, XM_005257689.1:c.1853G>T, XM_011525265.4:c.1760G>A, XM_011525265.4:c.1760G>T, XM_011525265.3:c.1760G>A, XM_011525265.3:c.1760G>T, XM_011525265.2:c.1760G>A, XM_011525265.2:c.1760G>T, XM_011525265.1:c.1760G>A, XM_011525265.1:c.1760G>T, XM_011525266.3:c.1739G>A, XM_011525266.3:c.1739G>T, XM_011525266.2:c.1739G>A, XM_011525266.2:c.1739G>T, XM_011525266.1:c.1739G>A, XM_011525266.1:c.1739G>T, XM_047436774.1:c.1733G>A, XM_047436774.1:c.1733G>T, XM_047436775.1:c.1640G>A, XM_047436775.1:c.1640G>T, XM_017025107.2:c.1754G>A, XM_017025107.2:c.1754G>T, XM_017025107.1:c.1754G>A, XM_017025107.1:c.1754G>T, NP_079111.1:p.Gly616Asp, NP_079111.1:p.Gly616Val, XP_005257746.1:p.Gly618Asp, XP_005257746.1:p.Gly618Val, XP_011523567.1:p.Gly587Asp, XP_011523567.1:p.Gly587Val, XP_011523568.1:p.Gly580Asp, XP_011523568.1:p.Gly580Val, XP_047292730.1:p.Gly578Asp, XP_047292730.1:p.Gly578Val, XP_047292731.1:p.Gly547Asp, XP_047292731.1:p.Gly547Val, XP_016880596.1:p.Gly585Asp, XP_016880596.1:p.Gly585Val

Select item 14784730615.

rs1478473061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36545817 (GRCh38)
17:34901666 (GRCh37)
Canonical SPDI:: NC_000017.11:36545816:G:A
Gene:: GGNBP2 (Varview), MYO19 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,synonymous_variant,upstream_transcript_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_000017.11:g.36545817G>A, NT_187614.1:g.780721G>A, NW_003315949.1:g.430565G>A, NC_000017.10:g.34901666G>A, NM_024835.5:c.93G>A, NM_024835.4:c.93G>A, XM_005257689.4:c.93G>A, XM_005257689.3:c.93G>A, XM_005257689.2:c.93G>A, XM_005257689.1:c.93G>A, XM_011525266.3:c.93G>A, XM_011525266.2:c.93G>A, XM_011525266.1:c.93G>A, XM_047436774.1:c.93G>A

Select item 14756575496.

rs1475657549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36587192 (GRCh38)
17:34943622 (GRCh37)
Canonical SPDI:: NC_000017.11:36587191:A:G
Gene:: GGNBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36587192A>G, NC_000017.10:g.34943622A>G, NT_187614.1:g.822687A>G, NW_003315949.1:g.472531A>G, NM_024835.5:c.1837A>G, NM_024835.4:c.1837A>G, XM_005257689.4:c.1843A>G, XM_005257689.3:c.1843A>G, XM_005257689.2:c.1843A>G, XM_005257689.1:c.1843A>G, XM_011525265.4:c.1750A>G, XM_011525265.3:c.1750A>G, XM_011525265.2:c.1750A>G, XM_011525265.1:c.1750A>G, XM_011525266.3:c.1729A>G, XM_011525266.2:c.1729A>G, XM_011525266.1:c.1729A>G, XM_047436774.1:c.1723A>G, XM_047436775.1:c.1630A>G, XM_017025107.2:c.1744A>G, XM_017025107.1:c.1744A>G, NP_079111.1:p.Thr613Ala, XP_005257746.1:p.Thr615Ala, XP_011523567.1:p.Thr584Ala, XP_011523568.1:p.Thr577Ala, XP_047292730.1:p.Thr575Ala, XP_047292731.1:p.Thr544Ala, XP_016880596.1:p.Thr582Ala

Select item 14721993587.

rs1472199358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36579360 (GRCh38)
17:34935790 (GRCh37)
Canonical SPDI:: NC_000017.11:36579359:G:A
Gene:: GGNBP2 (Varview)
Functional Consequence:: coding_sequence_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_000017.11:g.36579360G>A, NC_000017.10:g.34935790G>A, NT_187614.1:g.814855G>A, NW_003315949.1:g.464699G>A, NM_024835.5:c.961G>A, NM_024835.4:c.961G>A, XM_005257689.4:c.967G>A, XM_005257689.3:c.967G>A, XM_005257689.2:c.967G>A, XM_005257689.1:c.967G>A, XM_011525265.4:c.874G>A, XM_011525265.3:c.874G>A, XM_011525265.2:c.874G>A, XM_011525265.1:c.874G>A, XM_011525266.3:c.853G>A, XM_011525266.2:c.853G>A, XM_011525266.1:c.853G>A, XM_047436774.1:c.847G>A, XM_047436775.1:c.754G>A, XM_017025107.2:c.868G>A, XM_017025107.1:c.868G>A, NP_079111.1:p.Glu321Lys, XP_005257746.1:p.Glu323Lys, XP_011523567.1:p.Glu292Lys, XP_011523568.1:p.Glu285Lys, XP_047292730.1:p.Glu283Lys, XP_047292731.1:p.Glu252Lys, XP_016880596.1:p.Glu290Lys

Select item 14707189538.

rs1470718953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36545750 (GRCh38)
17:34901599 (GRCh37)
Canonical SPDI:: NC_000017.11:36545749:G:A
Gene:: GGNBP2 (Varview), MYO19 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,intron_variant,2KB_upstream_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=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36545750G>A, NT_187614.1:g.780654G>A, NW_003315949.1:g.430498G>A, NC_000017.10:g.34901599G>A, NM_024835.5:c.26G>A, NM_024835.4:c.26G>A, XM_005257689.4:c.26G>A, XM_005257689.3:c.26G>A, XM_005257689.2:c.26G>A, XM_005257689.1:c.26G>A, XM_011525266.3:c.26G>A, XM_011525266.2:c.26G>A, XM_011525266.1:c.26G>A, XM_047436774.1:c.26G>A, NP_079111.1:p.Arg9Lys, XP_005257746.1:p.Arg9Lys, XP_011523568.1:p.Arg9Lys, XP_047292730.1:p.Arg9Lys

Select item 14695709899.

rs1469570989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:36567711 (GRCh38)
17:34923550 (GRCh37)
Canonical SPDI:: NC_000017.11:36567710:T:C
Gene:: GGNBP2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000017.11:g.36567711T>C, NT_187614.1:g.802615T>C, NW_003315949.1:g.452459T>C, NC_000017.10:g.34923550T>C, NM_024835.5:c.576T>C, NM_024835.4:c.576T>C, XM_005257689.4:c.576T>C, XM_005257689.3:c.576T>C, XM_005257689.2:c.576T>C, XM_005257689.1:c.576T>C, XM_011525265.4:c.483T>C, XM_011525265.3:c.483T>C, XM_011525265.2:c.483T>C, XM_011525265.1:c.483T>C, XM_017025107.2:c.483T>C, XM_017025107.1:c.483T>C

Select item 146938806110.

rs1469388061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:36554844 (GRCh38)
17:34910685 (GRCh37)
Canonical SPDI:: NC_000017.11:36554843:G:A,NC_000017.11:36554843:G:T
Gene:: GGNBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.36554844G>A, NC_000017.11:g.36554844G>T, NT_187614.1:g.789748G>A, NT_187614.1:g.789748G>T, NW_003315949.1:g.439592G>A, NW_003315949.1:g.439592G>T, NC_000017.10:g.34910685G>A, NC_000017.10:g.34910685G>T, NM_024835.5:c.118G>A, NM_024835.5:c.118G>T, NM_024835.4:c.118G>A, NM_024835.4:c.118G>T, XM_005257689.4:c.118G>A, XM_005257689.4:c.118G>T, XM_005257689.3:c.118G>A, XM_005257689.3:c.118G>T, XM_005257689.2:c.118G>A, XM_005257689.2:c.118G>T, XM_005257689.1:c.118G>A, XM_005257689.1:c.118G>T, XM_011525265.4:c.25G>A, XM_011525265.4:c.25G>T, XM_011525265.3:c.25G>A, XM_011525265.3:c.25G>T, XM_011525265.2:c.25G>A, XM_011525265.2:c.25G>T, XM_011525265.1:c.25G>A, XM_011525265.1:c.25G>T, XM_011525266.3:c.118G>A, XM_011525266.3:c.118G>T, XM_011525266.2:c.118G>A, XM_011525266.2:c.118G>T, XM_011525266.1:c.118G>A, XM_011525266.1:c.118G>T, XM_017025107.2:c.25G>A, XM_017025107.2:c.25G>T, XM_017025107.1:c.25G>A, XM_017025107.1:c.25G>T, XM_047436774.1:c.118G>A, XM_047436774.1:c.118G>T, XM_047436775.1:c.25G>A, XM_047436775.1:c.25G>T, NP_079111.1:p.Val40Met, NP_079111.1:p.Val40Leu, XP_005257746.1:p.Val40Met, XP_005257746.1:p.Val40Leu, XP_011523567.1:p.Val9Met, XP_011523567.1:p.Val9Leu, XP_011523568.1:p.Val40Met, XP_011523568.1:p.Val40Leu, XP_016880596.1:p.Val9Met, XP_016880596.1:p.Val9Leu, XP_047292730.1:p.Val40Met, XP_047292730.1:p.Val40Leu, XP_047292731.1:p.Val9Met, XP_047292731.1:p.Val9Leu

Select item 146711438811.

rs1467114388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36581507 (GRCh38)
17:34937937 (GRCh37)
Canonical SPDI:: NC_000017.11:36581506:C:T
Gene:: GGNBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36581507C>T, NC_000017.10:g.34937937C>T, NT_187614.1:g.817002C>T, NW_003315949.1:g.466846C>T, NM_024835.5:c.1184C>T, NM_024835.4:c.1184C>T, XM_005257689.4:c.1190C>T, XM_005257689.3:c.1190C>T, XM_005257689.2:c.1190C>T, XM_005257689.1:c.1190C>T, XM_011525265.4:c.1097C>T, XM_011525265.3:c.1097C>T, XM_011525265.2:c.1097C>T, XM_011525265.1:c.1097C>T, XM_011525266.3:c.1076C>T, XM_011525266.2:c.1076C>T, XM_011525266.1:c.1076C>T, XM_047436774.1:c.1070C>T, XM_047436775.1:c.977C>T, XM_017025107.2:c.1091C>T, XM_017025107.1:c.1091C>T, NP_079111.1:p.Thr395Ile, XP_005257746.1:p.Thr397Ile, XP_011523567.1:p.Thr366Ile, XP_011523568.1:p.Thr359Ile, XP_047292730.1:p.Thr357Ile, XP_047292731.1:p.Thr326Ile, XP_016880596.1:p.Thr364Ile

Select item 146627700812.

rs1466277008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36585931 (GRCh38)
17:34942361 (GRCh37)
Canonical SPDI:: NC_000017.11:36585930:C:T
Gene:: GGNBP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.36585931C>T, NC_000017.10:g.34942361C>T, NT_187614.1:g.821426C>T, NW_003315949.1:g.471270C>T, NM_024835.5:c.1458C>T, NM_024835.4:c.1458C>T, XM_005257689.4:c.1464C>T, XM_005257689.3:c.1464C>T, XM_005257689.2:c.1464C>T, XM_005257689.1:c.1464C>T, XM_011525265.4:c.1371C>T, XM_011525265.3:c.1371C>T, XM_011525265.2:c.1371C>T, XM_011525265.1:c.1371C>T, XM_011525266.3:c.1350C>T, XM_011525266.2:c.1350C>T, XM_011525266.1:c.1350C>T, XM_047436774.1:c.1344C>T, XM_047436775.1:c.1251C>T, XM_017025107.2:c.1365C>T, XM_017025107.1:c.1365C>T

Select item 146602530213.

rs1466025302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:36578019 (GRCh38)
17:34934449 (GRCh37)
Canonical SPDI:: NC_000017.11:36578018:A:G,NC_000017.11:36578018:A:T
Gene:: GGNBP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36578019A>G, NC_000017.11:g.36578019A>T, NC_000017.10:g.34934449A>G, NC_000017.10:g.34934449A>T, NT_187614.1:g.813514A>G, NT_187614.1:g.813514A>T, NW_003315949.1:g.463358A>G, NW_003315949.1:g.463358A>T, NM_024835.5:c.678A>G, NM_024835.5:c.678A>T, NM_024835.4:c.678A>G, NM_024835.4:c.678A>T, XM_005257689.4:c.678A>G, XM_005257689.4:c.678A>T, XM_005257689.3:c.678A>G, XM_005257689.3:c.678A>T, XM_005257689.2:c.678A>G, XM_005257689.2:c.678A>T, XM_005257689.1:c.678A>G, XM_005257689.1:c.678A>T, XM_011525265.4:c.585A>G, XM_011525265.4:c.585A>T, XM_011525265.3:c.585A>G, XM_011525265.3:c.585A>T, XM_011525265.2:c.585A>G, XM_011525265.2:c.585A>T, XM_011525265.1:c.585A>G, XM_011525265.1:c.585A>T, XM_011525266.3:c.564A>G, XM_011525266.3:c.564A>T, XM_011525266.2:c.564A>G, XM_011525266.2:c.564A>T, XM_011525266.1:c.564A>G, XM_011525266.1:c.564A>T, XM_047436774.1:c.564A>G, XM_047436774.1:c.564A>T, XM_047436775.1:c.471A>G, XM_047436775.1:c.471A>T, XM_017025107.2:c.585A>G, XM_017025107.2:c.585A>T, XM_017025107.1:c.585A>G, XM_017025107.1:c.585A>T

Select item 146439238914.

rs1464392389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:36585304 (GRCh38)
17:34941734 (GRCh37)
Canonical SPDI:: NC_000017.11:36585303:C:G
Gene:: GGNBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36585304C>G, NC_000017.10:g.34941734C>G, NT_187614.1:g.820799C>G, NW_003315949.1:g.470643C>G, NM_024835.5:c.1220C>G, NM_024835.4:c.1220C>G, XM_005257689.4:c.1226C>G, XM_005257689.3:c.1226C>G, XM_005257689.2:c.1226C>G, XM_005257689.1:c.1226C>G, XM_011525265.4:c.1133C>G, XM_011525265.3:c.1133C>G, XM_011525265.2:c.1133C>G, XM_011525265.1:c.1133C>G, XM_011525266.3:c.1112C>G, XM_011525266.2:c.1112C>G, XM_011525266.1:c.1112C>G, XM_047436774.1:c.1106C>G, XM_047436775.1:c.1013C>G, XM_017025107.2:c.1127C>G, XM_017025107.1:c.1127C>G, NP_079111.1:p.Thr407Arg, XP_005257746.1:p.Thr409Arg, XP_011523567.1:p.Thr378Arg, XP_011523568.1:p.Thr371Arg, XP_047292730.1:p.Thr369Arg, XP_047292731.1:p.Thr338Arg, XP_016880596.1:p.Thr376Arg

Select item 145883645215.

rs1458836452 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 17:36589350 (GRCh38)
17:34945781 (GRCh37)
Canonical SPDI:: NC_000017.11:36589350:GTT:GTTGTT
Gene:: GGNBP2 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GTTGTT=0.000087/2 (ALFA)
GTT=0.000004/1 (GnomAD_exomes)
GTT=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36589351_36589353dup, NC_000017.10:g.34945781_34945783dup, NT_187614.1:g.824846_824848dup, NW_003315949.1:g.474690_474692dup, NM_024835.5:c.2034_2036dup, NM_024835.4:c.2034_2036dup, XM_005257689.4:c.2040_2042dup, XM_005257689.3:c.2040_2042dup, XM_005257689.2:c.2040_2042dup, XM_005257689.1:c.2040_2042dup, XM_011525265.4:c.1947_1949dup, XM_011525265.3:c.1947_1949dup, XM_011525265.2:c.1947_1949dup, XM_011525265.1:c.1947_1949dup, XM_011525266.3:c.1926_1928dup, XM_011525266.2:c.1926_1928dup, XM_011525266.1:c.1926_1928dup, XM_047436774.1:c.1920_1922dup, XM_047436775.1:c.1827_1829dup, XM_017025107.2:c.1941_1943dup, XM_017025107.1:c.1941_1943dup, NP_079111.1:p.Leu679dup, XP_005257746.1:p.Leu681dup, XP_011523567.1:p.Leu650dup, XP_011523568.1:p.Leu643dup, XP_047292730.1:p.Leu641dup, XP_047292731.1:p.Leu610dup, XP_016880596.1:p.Leu648dup

Select item 145766829416.

rs1457668294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36557286 (GRCh38)
17:34913126 (GRCh37)
Canonical SPDI:: NC_000017.11:36557285:A:G
Gene:: GGNBP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36557286A>G, NT_187614.1:g.792190A>G, NW_003315949.1:g.442034A>G, NC_000017.10:g.34913126A>G, NM_024835.5:c.378A>G, NM_024835.4:c.378A>G, XM_005257689.4:c.378A>G, XM_005257689.3:c.378A>G, XM_005257689.2:c.378A>G, XM_005257689.1:c.378A>G, XM_011525265.4:c.285A>G, XM_011525265.3:c.285A>G, XM_011525265.2:c.285A>G, XM_011525265.1:c.285A>G, XM_011525266.3:c.378A>G, XM_011525266.2:c.378A>G, XM_011525266.1:c.378A>G, XM_017025107.2:c.285A>G, XM_017025107.1:c.285A>G, XM_047436774.1:c.378A>G, XM_047436775.1:c.285A>G

Select item 145719163017.

rs1457191630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:36589276 (GRCh38)
17:34945706 (GRCh37)
Canonical SPDI:: NC_000017.11:36589275:T:C
Gene:: GGNBP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.36589276T>C, NC_000017.10:g.34945706T>C, NT_187614.1:g.824771T>C, NW_003315949.1:g.474615T>C, NM_024835.5:c.1959T>C, NM_024835.4:c.1959T>C, XM_005257689.4:c.1965T>C, XM_005257689.3:c.1965T>C, XM_005257689.2:c.1965T>C, XM_005257689.1:c.1965T>C, XM_011525265.4:c.1872T>C, XM_011525265.3:c.1872T>C, XM_011525265.2:c.1872T>C, XM_011525265.1:c.1872T>C, XM_011525266.3:c.1851T>C, XM_011525266.2:c.1851T>C, XM_011525266.1:c.1851T>C, XM_047436774.1:c.1845T>C, XM_047436775.1:c.1752T>C, XM_017025107.2:c.1866T>C, XM_017025107.1:c.1866T>C

Select item 145712786618.

rs1457127866 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:36557207 (GRCh38)
17:34913047 (GRCh37)
Canonical SPDI:: NC_000017.11:36557206:T:C
Gene:: GGNBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36557207T>C, NT_187614.1:g.792111T>C, NW_003315949.1:g.441955T>C, NC_000017.10:g.34913047T>C, NM_024835.5:c.299T>C, NM_024835.4:c.299T>C, XM_005257689.4:c.299T>C, XM_005257689.3:c.299T>C, XM_005257689.2:c.299T>C, XM_005257689.1:c.299T>C, XM_011525265.4:c.206T>C, XM_011525265.3:c.206T>C, XM_011525265.2:c.206T>C, XM_011525265.1:c.206T>C, XM_011525266.3:c.299T>C, XM_011525266.2:c.299T>C, XM_011525266.1:c.299T>C, XM_017025107.2:c.206T>C, XM_017025107.1:c.206T>C, XM_047436774.1:c.299T>C, XM_047436775.1:c.206T>C, NP_079111.1:p.Phe100Ser, XP_005257746.1:p.Phe100Ser, XP_011523567.1:p.Phe69Ser, XP_011523568.1:p.Phe100Ser, XP_016880596.1:p.Phe69Ser, XP_047292730.1:p.Phe100Ser, XP_047292731.1:p.Phe69Ser

Select item 145247968819.

rs1452479688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:36581386 (GRCh38)
17:34937816 (GRCh37)
Canonical SPDI:: NC_000017.11:36581385:C:G,NC_000017.11:36581385:C:T
Gene:: GGNBP2 (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=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.36581386C>G, NC_000017.11:g.36581386C>T, NC_000017.10:g.34937816C>G, NC_000017.10:g.34937816C>T, NT_187614.1:g.816881C>G, NT_187614.1:g.816881C>T, NW_003315949.1:g.466725C>G, NW_003315949.1:g.466725C>T, NM_024835.5:c.1063C>G, NM_024835.5:c.1063C>T, NM_024835.4:c.1063C>G, NM_024835.4:c.1063C>T, XM_005257689.4:c.1069C>G, XM_005257689.4:c.1069C>T, XM_005257689.3:c.1069C>G, XM_005257689.3:c.1069C>T, XM_005257689.2:c.1069C>G, XM_005257689.2:c.1069C>T, XM_005257689.1:c.1069C>G, XM_005257689.1:c.1069C>T, XM_011525265.4:c.976C>G, XM_011525265.4:c.976C>T, XM_011525265.3:c.976C>G, XM_011525265.3:c.976C>T, XM_011525265.2:c.976C>G, XM_011525265.2:c.976C>T, XM_011525265.1:c.976C>G, XM_011525265.1:c.976C>T, XM_011525266.3:c.955C>G, XM_011525266.3:c.955C>T, XM_011525266.2:c.955C>G, XM_011525266.2:c.955C>T, XM_011525266.1:c.955C>G, XM_011525266.1:c.955C>T, XM_047436774.1:c.949C>G, XM_047436774.1:c.949C>T, XM_047436775.1:c.856C>G, XM_047436775.1:c.856C>T, XM_017025107.2:c.970C>G, XM_017025107.2:c.970C>T, XM_017025107.1:c.970C>G, XM_017025107.1:c.970C>T, NP_079111.1:p.Leu355Val, NP_079111.1:p.Leu355Phe, XP_005257746.1:p.Leu357Val, XP_005257746.1:p.Leu357Phe, XP_011523567.1:p.Leu326Val, XP_011523567.1:p.Leu326Phe, XP_011523568.1:p.Leu319Val, XP_011523568.1:p.Leu319Phe, XP_047292730.1:p.Leu317Val, XP_047292730.1:p.Leu317Phe, XP_047292731.1:p.Leu286Val, XP_047292731.1:p.Leu286Phe, XP_016880596.1:p.Leu324Val, XP_016880596.1:p.Leu324Phe

Select item 145194968020.

rs1451949680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36585318 (GRCh38)
17:34941748 (GRCh37)
Canonical SPDI:: NC_000017.11:36585317:A:G
Gene:: GGNBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.36585318A>G, NC_000017.10:g.34941748A>G, NT_187614.1:g.820813A>G, NW_003315949.1:g.470657A>G, NM_024835.5:c.1234A>G, NM_024835.4:c.1234A>G, XM_005257689.4:c.1240A>G, XM_005257689.3:c.1240A>G, XM_005257689.2:c.1240A>G, XM_005257689.1:c.1240A>G, XM_011525265.4:c.1147A>G, XM_011525265.3:c.1147A>G, XM_011525265.2:c.1147A>G, XM_011525265.1:c.1147A>G, XM_011525266.3:c.1126A>G, XM_011525266.2:c.1126A>G, XM_011525266.1:c.1126A>G, XM_047436774.1:c.1120A>G, XM_047436775.1:c.1027A>G, XM_017025107.2:c.1141A>G, XM_017025107.1:c.1141A>G, NP_079111.1:p.Asn412Asp, XP_005257746.1:p.Asn414Asp, XP_011523567.1:p.Asn383Asp, XP_011523568.1:p.Asn376Asp, XP_047292730.1:p.Asn374Asp, XP_047292731.1:p.Asn343Asp, XP_016880596.1:p.Asn381Asp

dbSNP

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dbSNP

Result Filters

Validation Status

Publication

Function Class

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 476

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