SNP Links for Protein (Select 530410142) - SNP

Select item 14915074881.

rs1491507488 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:18253423 (GRCh38)
17:18156737 (GRCh37)
Canonical SPDI:: NC_000017.11:18253421:ACA:A
Gene:: FLII (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18253423_18253424del, NC_000017.10:g.18156737_18156738del, NG_023243.1:g.10319_10320del, NM_002018.4:c.891_892del, NM_002018.3:c.891_892del, NM_001256264.2:c.858_859del, NM_001256264.1:c.858_859del, NM_001256265.2:c.729_730del, NM_001256265.1:c.729_730del, NW_017363819.1:g.13797_13798del, XM_005256555.5:c.891_892del, XM_005256555.4:c.891_892del, XM_005256555.3:c.891_892del, XM_005256555.2:c.891_892del, XM_005256555.1:c.891_892del, XM_005256556.5:c.891_892del, XM_005256556.4:c.891_892del, XM_005256556.3:c.891_892del, XM_005256556.2:c.891_892del, XM_005256556.1:c.891_892del, XM_005256558.4:c.891_892del, XM_005256558.3:c.891_892del, XM_005256558.2:c.891_892del, XM_005256558.1:c.891_892del, NP_002009.1:p.Tyr298fs, NP_001243193.1:p.Tyr287fs, NP_001243194.1:p.Tyr244fs, XP_005256612.1:p.Tyr298fs, XP_005256613.1:p.Tyr298fs, XP_005256615.1:p.Tyr298fs

Select item 14890044912.

rs1489004491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:18249343 (GRCh38)
17:18152657 (GRCh37)
Canonical SPDI:: NC_000017.11:18249342:G:C
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.18249343G>C, NC_000017.10:g.18152657G>C, NG_023243.1:g.14399C>G, NM_002018.4:c.1842C>G, NM_002018.3:c.1842C>G, NM_001256264.2:c.1809C>G, NM_001256264.1:c.1809C>G, NM_001256265.2:c.1677C>G, NM_001256265.1:c.1677C>G, NW_017363819.1:g.9717G>C, XM_005256555.5:c.1842C>G, XM_005256555.4:c.1842C>G, XM_005256555.3:c.1842C>G, XM_005256555.2:c.1842C>G, XM_005256555.1:c.1842C>G, XM_005256556.5:c.1839C>G, XM_005256556.4:c.1839C>G, XM_005256556.3:c.1839C>G, XM_005256556.2:c.1839C>G, XM_005256556.1:c.1839C>G, XM_005256558.4:c.1839C>G, XM_005256558.3:c.1839C>G, XM_005256558.2:c.1839C>G, XM_005256558.1:c.1839C>G, NP_002009.1:p.Asp614Glu, NP_001243193.1:p.Asp603Glu, NP_001243194.1:p.Asp559Glu, XP_005256612.1:p.Asp614Glu, XP_005256613.1:p.Asp613Glu, XP_005256615.1:p.Asp613Glu

Select item 14870324913.

rs1487032491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18257016 (GRCh38)
17:18160330 (GRCh37)
Canonical SPDI:: NC_000017.11:18257015:C:T
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.18257016C>T, NC_000017.10:g.18160330C>T, NG_023243.1:g.6726G>A, NM_002018.4:c.67G>A, NM_002018.3:c.67G>A, NM_001256264.2:c.34G>A, NM_001256264.1:c.34G>A, NM_001256265.2:c.67G>A, NM_001256265.1:c.67G>A, NW_017363819.1:g.17390C>T, XM_005256555.5:c.67G>A, XM_005256555.4:c.67G>A, XM_005256555.3:c.67G>A, XM_005256555.2:c.67G>A, XM_005256555.1:c.67G>A, XM_005256556.5:c.67G>A, XM_005256556.4:c.67G>A, XM_005256556.3:c.67G>A, XM_005256556.2:c.67G>A, XM_005256556.1:c.67G>A, XM_005256558.4:c.67G>A, XM_005256558.3:c.67G>A, XM_005256558.2:c.67G>A, XM_005256558.1:c.67G>A, NP_002009.1:p.Gly23Ser, NP_001243193.1:p.Gly12Ser, NP_001243194.1:p.Gly23Ser, XP_005256612.1:p.Gly23Ser, XP_005256613.1:p.Gly23Ser, XP_005256615.1:p.Gly23Ser

Select item 14869545704.

rs1486954570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18247827 (GRCh38)
17:18151141 (GRCh37)
Canonical SPDI:: NC_000017.11:18247826:G:A
Gene:: FLII (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.18247827G>A, NC_000017.10:g.18151141G>A, NG_023243.1:g.15915C>T, NM_002018.4:c.2317C>T, NM_002018.3:c.2317C>T, NM_001256264.2:c.2284C>T, NM_001256264.1:c.2284C>T, NM_001256265.2:c.2152C>T, NM_001256265.1:c.2152C>T, NW_017363819.1:g.8201G>A, XM_005256555.5:c.2317C>T, XM_005256555.4:c.2317C>T, XM_005256555.3:c.2317C>T, XM_005256555.2:c.2317C>T, XM_005256555.1:c.2317C>T, XM_005256556.5:c.2314C>T, XM_005256556.4:c.2314C>T, XM_005256556.3:c.2314C>T, XM_005256556.2:c.2314C>T, XM_005256556.1:c.2314C>T, XM_005256558.4:c.2314C>T, XM_005256558.3:c.2314C>T, XM_005256558.2:c.2314C>T, XM_005256558.1:c.2314C>T, NP_002009.1:p.Arg773Cys, NP_001243193.1:p.Arg762Cys, NP_001243194.1:p.Arg718Cys, XP_005256612.1:p.Arg773Cys, XP_005256613.1:p.Arg772Cys, XP_005256615.1:p.Arg772Cys

Select item 14869204185.

rs1486920418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:18246631 (GRCh38)
17:18149945 (GRCh37)
Canonical SPDI:: NC_000017.11:18246630:T:A
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18246631T>A, NC_000017.10:g.18149945T>A, NG_023243.1:g.17111A>T, NM_002018.4:c.3014A>T, NM_002018.3:c.3014A>T, NM_001256264.2:c.2981A>T, NM_001256264.1:c.2981A>T, NM_001256265.2:c.2849A>T, NM_001256265.1:c.2849A>T, NW_017363819.1:g.7005T>A, XM_005256555.5:c.3014A>T, XM_005256555.4:c.3014A>T, XM_005256555.3:c.3014A>T, XM_005256555.2:c.3014A>T, XM_005256555.1:c.3014A>T, XM_005256556.5:c.3011A>T, XM_005256556.4:c.3011A>T, XM_005256556.3:c.3011A>T, XM_005256556.2:c.3011A>T, XM_005256556.1:c.3011A>T, XM_005256558.4:c.3011A>T, XM_005256558.3:c.3011A>T, XM_005256558.2:c.3011A>T, XM_005256558.1:c.3011A>T, NP_002009.1:p.Gln1005Leu, NP_001243193.1:p.Gln994Leu, NP_001243194.1:p.Gln950Leu, XP_005256612.1:p.Gln1005Leu, XP_005256613.1:p.Gln1004Leu, XP_005256615.1:p.Gln1004Leu

Select item 14865162286.

rs1486516228 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:18257010 (GRCh38)
17:18160325 (GRCh37)
Canonical SPDI:: NC_000017.11:18257010::T
Gene:: FLII (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.18257010_18257011insT, NC_000017.10:g.18160324_18160325insT, NG_023243.1:g.6731_6732insA, NM_002018.4:c.72_73insA, NM_002018.3:c.72_73insA, NM_001256264.2:c.39_40insA, NM_001256264.1:c.39_40insA, NM_001256265.2:c.72_73insA, NM_001256265.1:c.72_73insA, NW_017363819.1:g.17384_17385insT, XM_005256555.5:c.72_73insA, XM_005256555.4:c.72_73insA, XM_005256555.3:c.72_73insA, XM_005256555.2:c.72_73insA, XM_005256555.1:c.72_73insA, XM_005256556.5:c.72_73insA, XM_005256556.4:c.72_73insA, XM_005256556.3:c.72_73insA, XM_005256556.2:c.72_73insA, XM_005256556.1:c.72_73insA, XM_005256558.4:c.72_73insA, XM_005256558.3:c.72_73insA, XM_005256558.2:c.72_73insA, XM_005256558.1:c.72_73insA, NP_002009.1:p.Phe25fs, NP_001243193.1:p.Phe14fs, NP_001243194.1:p.Phe25fs, XP_005256612.1:p.Phe25fs, XP_005256613.1:p.Phe25fs, XP_005256615.1:p.Phe25fs

Select item 14863288567.

rs1486328856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18253703 (GRCh38)
17:18157017 (GRCh37)
Canonical SPDI:: NC_000017.11:18253702:G:A
Gene:: FLII (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18253703G>A, NC_000017.10:g.18157017G>A, NG_023243.1:g.10039C>T, NM_002018.4:c.696C>T, NM_002018.3:c.696C>T, NM_001256264.2:c.663C>T, NM_001256264.1:c.663C>T, NM_001256265.2:c.534C>T, NM_001256265.1:c.534C>T, NW_017363819.1:g.14077G>A, XM_005256555.5:c.696C>T, XM_005256555.4:c.696C>T, XM_005256555.3:c.696C>T, XM_005256555.2:c.696C>T, XM_005256555.1:c.696C>T, XM_005256556.5:c.696C>T, XM_005256556.4:c.696C>T, XM_005256556.3:c.696C>T, XM_005256556.2:c.696C>T, XM_005256556.1:c.696C>T, XM_005256558.4:c.696C>T, XM_005256558.3:c.696C>T, XM_005256558.2:c.696C>T, XM_005256558.1:c.696C>T

Select item 14846690458.

rs1484669045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:18252030 (GRCh38)
17:18155344 (GRCh37)
Canonical SPDI:: NC_000017.11:18252029:G:A,NC_000017.11:18252029:G:T
Gene:: FLII (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.18252030G>A, NC_000017.11:g.18252030G>T, NC_000017.10:g.18155344G>A, NC_000017.10:g.18155344G>T, NG_023243.1:g.11712C>T, NG_023243.1:g.11712C>A, NM_002018.4:c.1215C>T, NM_002018.4:c.1215C>A, NM_002018.3:c.1215C>T, NM_002018.3:c.1215C>A, NM_001256264.2:c.1182C>T, NM_001256264.2:c.1182C>A, NM_001256264.1:c.1182C>T, NM_001256264.1:c.1182C>A, NM_001256265.2:c.1053C>T, NM_001256265.2:c.1053C>A, NM_001256265.1:c.1053C>T, NM_001256265.1:c.1053C>A, NW_017363819.1:g.12404G>A, NW_017363819.1:g.12404G>T, XM_005256555.5:c.1215C>T, XM_005256555.5:c.1215C>A, XM_005256555.4:c.1215C>T, XM_005256555.4:c.1215C>A, XM_005256555.3:c.1215C>T, XM_005256555.3:c.1215C>A, XM_005256555.2:c.1215C>T, XM_005256555.2:c.1215C>A, XM_005256555.1:c.1215C>T, XM_005256555.1:c.1215C>A, XM_005256556.5:c.1215C>T, XM_005256556.5:c.1215C>A, XM_005256556.4:c.1215C>T, XM_005256556.4:c.1215C>A, XM_005256556.3:c.1215C>T, XM_005256556.3:c.1215C>A, XM_005256556.2:c.1215C>T, XM_005256556.2:c.1215C>A, XM_005256556.1:c.1215C>T, XM_005256556.1:c.1215C>A, XM_005256558.4:c.1215C>T, XM_005256558.4:c.1215C>A, XM_005256558.3:c.1215C>T, XM_005256558.3:c.1215C>A, XM_005256558.2:c.1215C>T, XM_005256558.2:c.1215C>A, XM_005256558.1:c.1215C>T, XM_005256558.1:c.1215C>A

Select item 14840221899.

rs1484022189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:18254552 (GRCh38)
17:18157866 (GRCh37)
Canonical SPDI:: NC_000017.11:18254551:T:C
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.18254552T>C, NC_000017.10:g.18157866T>C, NG_023243.1:g.9190A>G, NM_002018.4:c.544A>G, NM_002018.3:c.544A>G, NM_001256264.2:c.511A>G, NM_001256264.1:c.511A>G, NW_017363819.1:g.14926T>C, XM_005256555.5:c.544A>G, XM_005256555.4:c.544A>G, XM_005256555.3:c.544A>G, XM_005256555.2:c.544A>G, XM_005256555.1:c.544A>G, XM_005256556.5:c.544A>G, XM_005256556.4:c.544A>G, XM_005256556.3:c.544A>G, XM_005256556.2:c.544A>G, XM_005256556.1:c.544A>G, XM_005256558.4:c.544A>G, XM_005256558.3:c.544A>G, XM_005256558.2:c.544A>G, XM_005256558.1:c.544A>G, NP_002009.1:p.Asn182Asp, NP_001243193.1:p.Asn171Asp, XP_005256612.1:p.Asn182Asp, XP_005256613.1:p.Asn182Asp, XP_005256615.1:p.Asn182Asp

Select item 148318522410.

rs1483185224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18252007 (GRCh38)
17:18155321 (GRCh37)
Canonical SPDI:: NC_000017.11:18252006:G:A
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.18252007G>A, NC_000017.10:g.18155321G>A, NG_023243.1:g.11735C>T, NM_002018.4:c.1238C>T, NM_002018.3:c.1238C>T, NM_001256264.2:c.1205C>T, NM_001256264.1:c.1205C>T, NM_001256265.2:c.1076C>T, NM_001256265.1:c.1076C>T, NW_017363819.1:g.12381G>A, XM_005256555.5:c.1238C>T, XM_005256555.4:c.1238C>T, XM_005256555.3:c.1238C>T, XM_005256555.2:c.1238C>T, XM_005256555.1:c.1238C>T, XM_005256556.5:c.1238C>T, XM_005256556.4:c.1238C>T, XM_005256556.3:c.1238C>T, XM_005256556.2:c.1238C>T, XM_005256556.1:c.1238C>T, XM_005256558.4:c.1238C>T, XM_005256558.3:c.1238C>T, XM_005256558.2:c.1238C>T, XM_005256558.1:c.1238C>T, NP_002009.1:p.Ala413Val, NP_001243193.1:p.Ala402Val, NP_001243194.1:p.Ala359Val, XP_005256612.1:p.Ala413Val, XP_005256613.1:p.Ala413Val, XP_005256615.1:p.Ala413Val

Select item 148261347411.

rs1482613474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:18247955 (GRCh38)
17:18151269 (GRCh37)
Canonical SPDI:: NC_000017.11:18247954:C:A
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.18247955C>A, NC_000017.10:g.18151269C>A, NG_023243.1:g.15787G>T, NM_002018.4:c.2269G>T, NM_002018.3:c.2269G>T, NM_001256264.2:c.2236G>T, NM_001256264.1:c.2236G>T, NM_001256265.2:c.2104G>T, NM_001256265.1:c.2104G>T, NW_017363819.1:g.8329C>A, XM_005256555.5:c.2269G>T, XM_005256555.4:c.2269G>T, XM_005256555.3:c.2269G>T, XM_005256555.2:c.2269G>T, XM_005256555.1:c.2269G>T, XM_005256556.5:c.2266G>T, XM_005256556.4:c.2266G>T, XM_005256556.3:c.2266G>T, XM_005256556.2:c.2266G>T, XM_005256556.1:c.2266G>T, XM_005256558.4:c.2266G>T, XM_005256558.3:c.2266G>T, XM_005256558.2:c.2266G>T, XM_005256558.1:c.2266G>T, NP_002009.1:p.Val757Leu, NP_001243193.1:p.Val746Leu, NP_001243194.1:p.Val702Leu, XP_005256612.1:p.Val757Leu, XP_005256613.1:p.Val756Leu, XP_005256615.1:p.Val756Leu

Select item 148235425612.

rs1482354256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18249358 (GRCh38)
17:18152672 (GRCh37)
Canonical SPDI:: NC_000017.11:18249357:G:A
Gene:: FLII (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.18249358G>A, NC_000017.10:g.18152672G>A, NG_023243.1:g.14384C>T, NM_002018.4:c.1827C>T, NM_002018.3:c.1827C>T, NM_001256264.2:c.1794C>T, NM_001256264.1:c.1794C>T, NM_001256265.2:c.1662C>T, NM_001256265.1:c.1662C>T, NW_017363819.1:g.9732G>A, XM_005256555.5:c.1827C>T, XM_005256555.4:c.1827C>T, XM_005256555.3:c.1827C>T, XM_005256555.2:c.1827C>T, XM_005256555.1:c.1827C>T, XM_005256556.5:c.1824C>T, XM_005256556.4:c.1824C>T, XM_005256556.3:c.1824C>T, XM_005256556.2:c.1824C>T, XM_005256556.1:c.1824C>T, XM_005256558.4:c.1824C>T, XM_005256558.3:c.1824C>T, XM_005256558.2:c.1824C>T, XM_005256558.1:c.1824C>T

Select item 148188165413.

rs1481881654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18249185 (GRCh38)
17:18152499 (GRCh37)
Canonical SPDI:: NC_000017.11:18249184:C:T
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18249185C>T, NC_000017.10:g.18152499C>T, NG_023243.1:g.14557G>A, NM_002018.4:c.1876G>A, NM_002018.3:c.1876G>A, NM_001256264.2:c.1843G>A, NM_001256264.1:c.1843G>A, NM_001256265.2:c.1711G>A, NM_001256265.1:c.1711G>A, NW_017363819.1:g.9559C>T, XM_005256555.5:c.1876G>A, XM_005256555.4:c.1876G>A, XM_005256555.3:c.1876G>A, XM_005256555.2:c.1876G>A, XM_005256555.1:c.1876G>A, XM_005256556.5:c.1873G>A, XM_005256556.4:c.1873G>A, XM_005256556.3:c.1873G>A, XM_005256556.2:c.1873G>A, XM_005256556.1:c.1873G>A, XM_005256558.4:c.1873G>A, XM_005256558.3:c.1873G>A, XM_005256558.2:c.1873G>A, XM_005256558.1:c.1873G>A, NP_002009.1:p.Gly626Arg, NP_001243193.1:p.Gly615Arg, NP_001243194.1:p.Gly571Arg, XP_005256612.1:p.Gly626Arg, XP_005256613.1:p.Gly625Arg, XP_005256615.1:p.Gly625Arg

Select item 148159145314.

rs1481591453 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:18247016 (GRCh38)
17:18150331 (GRCh37)
Canonical SPDI:: NC_000017.11:18247016:T:TT
Gene:: FLII (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18247017dup, NC_000017.10:g.18150331dup, NG_023243.1:g.16725dup, NM_002018.4:c.2712dup, NM_002018.3:c.2712dup, NM_001256264.2:c.2679dup, NM_001256264.1:c.2679dup, NM_001256265.2:c.2547dup, NM_001256265.1:c.2547dup, NW_017363819.1:g.7391dup, XM_005256555.5:c.2712dup, XM_005256555.4:c.2712dup, XM_005256555.3:c.2712dup, XM_005256555.2:c.2712dup, XM_005256555.1:c.2712dup, XM_005256556.5:c.2709dup, XM_005256556.4:c.2709dup, XM_005256556.3:c.2709dup, XM_005256556.2:c.2709dup, XM_005256556.1:c.2709dup, XM_005256558.4:c.2709dup, XM_005256558.3:c.2709dup, XM_005256558.2:c.2709dup, XM_005256558.1:c.2709dup, NP_002009.1:p.Asp905fs, NP_001243193.1:p.Asp894fs, NP_001243194.1:p.Asp850fs, XP_005256612.1:p.Asp905fs, XP_005256613.1:p.Asp904fs, XP_005256615.1:p.Asp904fs

Select item 148132703815.

rs1481327038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18247741 (GRCh38)
17:18151055 (GRCh37)
Canonical SPDI:: NC_000017.11:18247740:G:A
Gene:: FLII (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)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.18247741G>A, NC_000017.10:g.18151055G>A, NG_023243.1:g.16001C>T, NM_002018.4:c.2403C>T, NM_002018.3:c.2403C>T, NM_001256264.2:c.2370C>T, NM_001256264.1:c.2370C>T, NM_001256265.2:c.2238C>T, NM_001256265.1:c.2238C>T, NW_017363819.1:g.8115G>A, XM_005256555.5:c.2403C>T, XM_005256555.4:c.2403C>T, XM_005256555.3:c.2403C>T, XM_005256555.2:c.2403C>T, XM_005256555.1:c.2403C>T, XM_005256556.5:c.2400C>T, XM_005256556.4:c.2400C>T, XM_005256556.3:c.2400C>T, XM_005256556.2:c.2400C>T, XM_005256556.1:c.2400C>T, XM_005256558.4:c.2400C>T, XM_005256558.3:c.2400C>T, XM_005256558.2:c.2400C>T, XM_005256558.1:c.2400C>T

Select item 148131334016.

rs1481313340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18247983 (GRCh38)
17:18151297 (GRCh37)
Canonical SPDI:: NC_000017.11:18247982:G:A
Gene:: FLII (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=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18247983G>A, NC_000017.10:g.18151297G>A, NG_023243.1:g.15759C>T, NM_002018.4:c.2241C>T, NM_002018.3:c.2241C>T, NM_001256264.2:c.2208C>T, NM_001256264.1:c.2208C>T, NM_001256265.2:c.2076C>T, NM_001256265.1:c.2076C>T, NW_017363819.1:g.8357G>A, XM_005256555.5:c.2241C>T, XM_005256555.4:c.2241C>T, XM_005256555.3:c.2241C>T, XM_005256555.2:c.2241C>T, XM_005256555.1:c.2241C>T, XM_005256556.5:c.2238C>T, XM_005256556.4:c.2238C>T, XM_005256556.3:c.2238C>T, XM_005256556.2:c.2238C>T, XM_005256556.1:c.2238C>T, XM_005256558.4:c.2238C>T, XM_005256558.3:c.2238C>T, XM_005256558.2:c.2238C>T, XM_005256558.1:c.2238C>T

Select item 148111494217.

rs1481114942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:18245776 (GRCh38)
17:18149090 (GRCh37)
Canonical SPDI:: NC_000017.11:18245775:A:G
Gene:: FLII (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.18245776A>G, NC_000017.10:g.18149090A>G, NG_023243.1:g.17966T>C, NM_002018.4:c.3471T>C, NM_002018.3:c.3471T>C, NM_001256264.2:c.3438T>C, NM_001256264.1:c.3438T>C, NM_001256265.2:c.3306T>C, NM_001256265.1:c.3306T>C, NW_017363819.1:g.6150A>G, XM_005256555.5:c.3471T>C, XM_005256555.4:c.3471T>C, XM_005256555.3:c.3471T>C, XM_005256555.2:c.3471T>C, XM_005256555.1:c.3471T>C, XM_005256556.5:c.3468T>C, XM_005256556.4:c.3468T>C, XM_005256556.3:c.3468T>C, XM_005256556.2:c.3468T>C, XM_005256556.1:c.3468T>C, XM_005256558.4:c.3468T>C, XM_005256558.3:c.3468T>C, XM_005256558.2:c.3468T>C, XM_005256558.1:c.3468T>C

Select item 148094950018.

rs1480949500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18249193 (GRCh38)
17:18152507 (GRCh37)
Canonical SPDI:: NC_000017.11:18249192:C:T
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18249193C>T, NC_000017.10:g.18152507C>T, NG_023243.1:g.14549G>A, NM_002018.4:c.1868G>A, NM_002018.3:c.1868G>A, NM_001256264.2:c.1835G>A, NM_001256264.1:c.1835G>A, NM_001256265.2:c.1703G>A, NM_001256265.1:c.1703G>A, NW_017363819.1:g.9567C>T, XM_005256555.5:c.1868G>A, XM_005256555.4:c.1868G>A, XM_005256555.3:c.1868G>A, XM_005256555.2:c.1868G>A, XM_005256555.1:c.1868G>A, XM_005256556.5:c.1865G>A, XM_005256556.4:c.1865G>A, XM_005256556.3:c.1865G>A, XM_005256556.2:c.1865G>A, XM_005256556.1:c.1865G>A, XM_005256558.4:c.1865G>A, XM_005256558.3:c.1865G>A, XM_005256558.2:c.1865G>A, XM_005256558.1:c.1865G>A, NP_002009.1:p.Arg623His, NP_001243193.1:p.Arg612His, NP_001243194.1:p.Arg568His, XP_005256612.1:p.Arg623His, XP_005256613.1:p.Arg622His, XP_005256615.1:p.Arg622His

Select item 147945043019.

rs1479450430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:18245939 (GRCh38)
17:18149253 (GRCh37)
Canonical SPDI:: NC_000017.11:18245938:T:C
Gene:: FLII (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.18245939T>C, NC_000017.10:g.18149253T>C, NG_023243.1:g.17803A>G, NM_002018.4:c.3391A>G, NM_002018.3:c.3391A>G, NM_001256264.2:c.3358A>G, NM_001256264.1:c.3358A>G, NM_001256265.2:c.3226A>G, NM_001256265.1:c.3226A>G, NW_017363819.1:g.6313T>C, XM_005256555.5:c.3391A>G, XM_005256555.4:c.3391A>G, XM_005256555.3:c.3391A>G, XM_005256555.2:c.3391A>G, XM_005256555.1:c.3391A>G, XM_005256556.5:c.3388A>G, XM_005256556.4:c.3388A>G, XM_005256556.3:c.3388A>G, XM_005256556.2:c.3388A>G, XM_005256556.1:c.3388A>G, XM_005256558.4:c.3388A>G, XM_005256558.3:c.3388A>G, XM_005256558.2:c.3388A>G, XM_005256558.1:c.3388A>G, NP_002009.1:p.Lys1131Glu, NP_001243193.1:p.Lys1120Glu, NP_001243194.1:p.Lys1076Glu, XP_005256612.1:p.Lys1131Glu, XP_005256613.1:p.Lys1130Glu, XP_005256615.1:p.Lys1130Glu

Select item 147872551920.

rs1478725519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18250844 (GRCh38)
17:18154158 (GRCh37)
Canonical SPDI:: NC_000017.11:18250843:G:A
Gene:: FLII (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18250844G>A, NC_000017.10:g.18154158G>A, NG_023243.1:g.12898C>T, NM_002018.4:c.1770C>T, NM_002018.3:c.1770C>T, NM_001256264.2:c.1737C>T, NM_001256264.1:c.1737C>T, NM_001256265.2:c.1605C>T, NM_001256265.1:c.1605C>T, NW_017363819.1:g.11218G>A, XM_005256555.5:c.1770C>T, XM_005256555.4:c.1770C>T, XM_005256555.3:c.1770C>T, XM_005256555.2:c.1770C>T, XM_005256555.1:c.1770C>T, XM_005256556.5:c.1767C>T, XM_005256556.4:c.1767C>T, XM_005256556.3:c.1767C>T, XM_005256556.2:c.1767C>T, XM_005256556.1:c.1767C>T, XM_005256558.4:c.1767C>T, XM_005256558.3:c.1767C>T, XM_005256558.2:c.1767C>T, XM_005256558.1:c.1767C>T

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Result Filters

Clinical Significance

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

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Links from Protein

Items: 1 to 20 of 1514

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