SNP Links for Protein (Select 118582289) - SNP

Links from Protein

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Select item 14909941651.

rs1490994165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:50843247 (GRCh38)
6:50810960 (GRCh37)
Canonical SPDI:: NC_000006.12:50843246:C:G
Gene:: TFAP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.50843247C>G, NC_000006.11:g.50810960C>G, NG_008438.1:g.29522C>G, NM_003221.4:c.1238C>G, NM_003221.3:c.1238C>G, XM_011514837.3:c.1265C>G, XM_011514837.2:c.1265C>G, XM_011514837.1:c.1265C>G, XM_017011235.3:c.779C>G, XM_017011235.2:c.779C>G, XM_017011235.1:c.779C>G, XM_017011234.2:c.1367C>G, XM_017011234.1:c.1367C>G, XM_017011233.2:c.1403C>G, XM_017011233.1:c.1403C>G, XR_007059334.1:n.1259C>G, NP_003212.2:p.Ala413Gly, XP_011513139.1:p.Ala422Gly, XP_016866724.1:p.Ala260Gly, XP_016866723.1:p.Ala456Gly, XP_016866722.1:p.Ala468Gly

Select item 14889342562.

rs1488934256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:50843391 (GRCh38)
6:50811104 (GRCh37)
Canonical SPDI:: NC_000006.12:50843390:G:A
Gene:: TFAP2B (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50843391G>A, NC_000006.11:g.50811104G>A, NG_008438.1:g.29666G>A, NM_003221.4:c.1382G>A, NM_003221.3:c.1382G>A, XM_011514837.3:c.1409G>A, XM_011514837.2:c.1409G>A, XM_011514837.1:c.1409G>A, XM_017011235.3:c.923G>A, XM_017011235.2:c.923G>A, XM_017011235.1:c.923G>A, XM_017011234.2:c.1511G>A, XM_017011234.1:c.1511G>A, XM_017011233.2:c.1547G>A, XM_017011233.1:c.1547G>A, XR_007059334.1:n.1403G>A

Select item 14871160283.

rs1487116028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50823554 (GRCh38)
6:50791267 (GRCh37)
Canonical SPDI:: NC_000006.12:50823553:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.50823554C>T, NC_000006.11:g.50791267C>T, NG_008438.1:g.9829C>T, NM_003221.4:c.229C>T, NM_003221.3:c.229C>T, XM_011514837.3:c.256C>T, XM_011514837.2:c.256C>T, XM_011514837.1:c.256C>T, XM_017011234.2:c.358C>T, XM_017011234.1:c.358C>T, XM_017011233.2:c.394C>T, XM_017011233.1:c.394C>T, XR_007059334.1:n.250C>T, NP_003212.2:p.Leu77Phe, XP_011513139.1:p.Leu86Phe, XP_016866723.1:p.Leu120Phe, XP_016866722.1:p.Leu132Phe

Select item 14856152394.

rs1485615239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:50840277 (GRCh38)
6:50807990 (GRCh37)
Canonical SPDI:: NC_000006.12:50840276:G:A
Gene:: TFAP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.50840277G>A, NC_000006.11:g.50807990G>A, NG_008438.1:g.26552G>A, NM_003221.4:c.1062G>A, NM_003221.3:c.1062G>A, XM_011514837.3:c.1089G>A, XM_011514837.2:c.1089G>A, XM_011514837.1:c.1089G>A, XM_017011235.3:c.603G>A, XM_017011235.2:c.603G>A, XM_017011235.1:c.603G>A, XM_017011234.2:c.1191G>A, XM_017011234.1:c.1191G>A, XM_017011233.2:c.1227G>A, XM_017011233.1:c.1227G>A, XR_007059334.1:n.1083G>A

Select item 14851408855.

rs1485140885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:50836151 (GRCh38)
6:50803864 (GRCh37)
Canonical SPDI:: NC_000006.12:50836150:G:A
Gene:: TFAP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50836151G>A, NC_000006.11:g.50803864G>A, NG_008438.1:g.22426G>A, NM_003221.4:c.692G>A, NM_003221.3:c.692G>A, XM_011514837.3:c.719G>A, XM_011514837.2:c.719G>A, XM_011514837.1:c.719G>A, XM_017011235.3:c.233G>A, XM_017011235.2:c.233G>A, XM_017011235.1:c.233G>A, XM_017011234.2:c.821G>A, XM_017011234.1:c.821G>A, XM_017011233.2:c.857G>A, XM_017011233.1:c.857G>A, XR_007059334.1:n.713G>A, NP_003212.2:p.Cys231Tyr, XP_011513139.1:p.Cys240Tyr, XP_016866724.1:p.Cys78Tyr, XP_016866723.1:p.Cys274Tyr, XP_016866722.1:p.Cys286Tyr

Select item 14816955286.

rs1481695528 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:50843376 (GRCh38)
6:50811089 (GRCh37)
Canonical SPDI:: NC_000006.12:50843375:A:
Gene:: TFAP2B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50843376del, NC_000006.11:g.50811089del, NG_008438.1:g.29651del, NM_003221.4:c.1367del, NM_003221.3:c.1367del, XM_011514837.3:c.1394del, XM_011514837.2:c.1394del, XM_011514837.1:c.1394del, XM_017011235.3:c.908del, XM_017011235.2:c.908del, XM_017011235.1:c.908del, XM_017011234.2:c.1496del, XM_017011234.1:c.1496del, XM_017011233.2:c.1532del, XM_017011233.1:c.1532del, XR_007059334.1:n.1388del, NP_003212.2:p.Glu456fs, XP_011513139.1:p.Glu465fs, XP_016866724.1:p.Glu303fs, XP_016866723.1:p.Glu499fs, XP_016866722.1:p.Glu511fs

Select item 14772614477.

rs1477261447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:50843239 (GRCh38)
6:50810952 (GRCh37)
Canonical SPDI:: NC_000006.12:50843238:T:C
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
HGVS:: NC_000006.12:g.50843239T>C, NC_000006.11:g.50810952T>C, NG_008438.1:g.29514T>C, NM_003221.4:c.1230T>C, NM_003221.3:c.1230T>C, XM_011514837.3:c.1257T>C, XM_011514837.2:c.1257T>C, XM_011514837.1:c.1257T>C, XM_017011235.3:c.771T>C, XM_017011235.2:c.771T>C, XM_017011235.1:c.771T>C, XM_017011234.2:c.1359T>C, XM_017011234.1:c.1359T>C, XM_017011233.2:c.1395T>C, XM_017011233.1:c.1395T>C, XR_007059334.1:n.1251T>C

Select item 14761101418.

rs1476110141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:50823742 (GRCh38)
6:50791455 (GRCh37)
Canonical SPDI:: NC_000006.12:50823741:G:A
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50823742G>A, NC_000006.11:g.50791455G>A, NG_008438.1:g.10017G>A, NM_003221.4:c.417G>A, NM_003221.3:c.417G>A, XM_011514837.3:c.444G>A, XM_011514837.2:c.444G>A, XM_011514837.1:c.444G>A, XM_017011234.2:c.546G>A, XM_017011234.1:c.546G>A, XM_017011233.2:c.582G>A, XM_017011233.1:c.582G>A, XR_007059334.1:n.438G>A

Select item 14751716599.

rs1475171659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:50843151 (GRCh38)
6:50810864 (GRCh37)
Canonical SPDI:: NC_000006.12:50843150:G:T
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50843151G>T, NC_000006.11:g.50810864G>T, NG_008438.1:g.29426G>T, NM_003221.4:c.1142G>T, NM_003221.3:c.1142G>T, XM_011514837.3:c.1169G>T, XM_011514837.2:c.1169G>T, XM_011514837.1:c.1169G>T, XM_017011235.3:c.683G>T, XM_017011235.2:c.683G>T, XM_017011235.1:c.683G>T, XM_017011234.2:c.1271G>T, XM_017011234.1:c.1271G>T, XM_017011233.2:c.1307G>T, XM_017011233.1:c.1307G>T, XR_007059334.1:n.1163G>T, NP_003212.2:p.Ser381Ile, XP_011513139.1:p.Ser390Ile, XP_016866724.1:p.Ser228Ile, XP_016866723.1:p.Ser424Ile, XP_016866722.1:p.Ser436Ile

Select item 147415211010.

rs1474152110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:50838006 (GRCh38)
6:50805719 (GRCh37)
Canonical SPDI:: NC_000006.12:50838005:C:A,NC_000006.12:50838005:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000033/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50838006C>A, NC_000006.12:g.50838006C>T, NC_000006.11:g.50805719C>A, NC_000006.11:g.50805719C>T, NG_008438.1:g.24281C>A, NG_008438.1:g.24281C>T, NM_003221.4:c.853C>A, NM_003221.4:c.853C>T, NM_003221.3:c.853C>A, NM_003221.3:c.853C>T, XM_011514837.3:c.880C>A, XM_011514837.3:c.880C>T, XM_011514837.2:c.880C>A, XM_011514837.2:c.880C>T, XM_011514837.1:c.880C>A, XM_011514837.1:c.880C>T, XM_017011235.3:c.394C>A, XM_017011235.3:c.394C>T, XM_017011235.2:c.394C>A, XM_017011235.2:c.394C>T, XM_017011235.1:c.394C>A, XM_017011235.1:c.394C>T, XM_017011234.2:c.982C>A, XM_017011234.2:c.982C>T, XM_017011234.1:c.982C>A, XM_017011234.1:c.982C>T, XM_017011233.2:c.1018C>A, XM_017011233.2:c.1018C>T, XM_017011233.1:c.1018C>A, XM_017011233.1:c.1018C>T, XR_007059334.1:n.874C>A, XR_007059334.1:n.874C>T, NP_003212.2:p.Arg285Ter, XP_011513139.1:p.Arg294Ter, XP_016866724.1:p.Arg132Ter, XP_016866723.1:p.Arg328Ter, XP_016866722.1:p.Arg340Ter

Select item 147196145111.

rs1471961451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50823737 (GRCh38)
6:50791450 (GRCh37)
Canonical SPDI:: NC_000006.12:50823736:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50823737C>T, NC_000006.11:g.50791450C>T, NG_008438.1:g.10012C>T, NM_003221.4:c.412C>T, NM_003221.3:c.412C>T, XM_011514837.3:c.439C>T, XM_011514837.2:c.439C>T, XM_011514837.1:c.439C>T, XM_017011234.2:c.541C>T, XM_017011234.1:c.541C>T, XM_017011233.2:c.577C>T, XM_017011233.1:c.577C>T, XR_007059334.1:n.433C>T, NP_003212.2:p.Arg138Trp, XP_011513139.1:p.Arg147Trp, XP_016866723.1:p.Arg181Trp, XP_016866722.1:p.Arg193Trp

Select item 146983601412.

rs1469836014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50837978 (GRCh38)
6:50805691 (GRCh37)
Canonical SPDI:: NC_000006.12:50837977:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.50837978C>T, NC_000006.11:g.50805691C>T, NG_008438.1:g.24253C>T, NM_003221.4:c.825C>T, NM_003221.3:c.825C>T, XM_011514837.3:c.852C>T, XM_011514837.2:c.852C>T, XM_011514837.1:c.852C>T, XM_017011235.3:c.366C>T, XM_017011235.2:c.366C>T, XM_017011235.1:c.366C>T, XM_017011234.2:c.954C>T, XM_017011234.1:c.954C>T, XM_017011233.2:c.990C>T, XM_017011233.1:c.990C>T, XR_007059334.1:n.846C>T

Select item 146934124813.

rs1469341248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:50823652 (GRCh38)
6:50791365 (GRCh37)
Canonical SPDI:: NC_000006.12:50823651:G:A,NC_000006.12:50823651:G:T
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.50823652G>A, NC_000006.12:g.50823652G>T, NC_000006.11:g.50791365G>A, NC_000006.11:g.50791365G>T, NG_008438.1:g.9927G>A, NG_008438.1:g.9927G>T, NM_003221.4:c.327G>A, NM_003221.4:c.327G>T, NM_003221.3:c.327G>A, NM_003221.3:c.327G>T, XM_011514837.3:c.354G>A, XM_011514837.3:c.354G>T, XM_011514837.2:c.354G>A, XM_011514837.2:c.354G>T, XM_011514837.1:c.354G>A, XM_011514837.1:c.354G>T, XM_017011234.2:c.456G>A, XM_017011234.2:c.456G>T, XM_017011234.1:c.456G>A, XM_017011234.1:c.456G>T, XM_017011233.2:c.492G>A, XM_017011233.2:c.492G>T, XM_017011233.1:c.492G>A, XM_017011233.1:c.492G>T, XR_007059334.1:n.348G>A, XR_007059334.1:n.348G>T

Select item 146815234014.

rs1468152340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50840268 (GRCh38)
6:50807981 (GRCh37)
Canonical SPDI:: NC_000006.12:50840267:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50840268C>T, NC_000006.11:g.50807981C>T, NG_008438.1:g.26543C>T, NM_003221.4:c.1053C>T, NM_003221.3:c.1053C>T, XM_011514837.3:c.1080C>T, XM_011514837.2:c.1080C>T, XM_011514837.1:c.1080C>T, XM_017011235.3:c.594C>T, XM_017011235.2:c.594C>T, XM_017011235.1:c.594C>T, XM_017011234.2:c.1182C>T, XM_017011234.1:c.1182C>T, XM_017011233.2:c.1218C>T, XM_017011233.1:c.1218C>T, XR_007059334.1:n.1074C>T

Select item 146665749815.

rs1466657498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50843266 (GRCh38)
6:50810979 (GRCh37)
Canonical SPDI:: NC_000006.12:50843265:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50843266C>T, NC_000006.11:g.50810979C>T, NG_008438.1:g.29541C>T, NM_003221.4:c.1257C>T, NM_003221.3:c.1257C>T, XM_011514837.3:c.1284C>T, XM_011514837.2:c.1284C>T, XM_011514837.1:c.1284C>T, XM_017011235.3:c.798C>T, XM_017011235.2:c.798C>T, XM_017011235.1:c.798C>T, XM_017011234.2:c.1386C>T, XM_017011234.1:c.1386C>T, XM_017011233.2:c.1422C>T, XM_017011233.1:c.1422C>T, XR_007059334.1:n.1278C>T

Select item 146296888116.

rs1462968881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:50823705 (GRCh38)
6:50791418 (GRCh37)
Canonical SPDI:: NC_000006.12:50823704:C:A
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50823705C>A, NC_000006.11:g.50791418C>A, NG_008438.1:g.9980C>A, NM_003221.4:c.380C>A, NM_003221.3:c.380C>A, XM_011514837.3:c.407C>A, XM_011514837.2:c.407C>A, XM_011514837.1:c.407C>A, XM_017011234.2:c.509C>A, XM_017011234.1:c.509C>A, XM_017011233.2:c.545C>A, XM_017011233.1:c.545C>A, XR_007059334.1:n.401C>A, NP_003212.2:p.Ala127Asp, XP_011513139.1:p.Ala136Asp, XP_016866723.1:p.Ala170Asp, XP_016866722.1:p.Ala182Asp

Select item 146083448317.

rs1460834483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50843164 (GRCh38)
6:50810877 (GRCh37)
Canonical SPDI:: NC_000006.12:50843163:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50843164C>T, NC_000006.11:g.50810877C>T, NG_008438.1:g.29439C>T, NM_003221.4:c.1155C>T, NM_003221.3:c.1155C>T, XM_011514837.3:c.1182C>T, XM_011514837.2:c.1182C>T, XM_011514837.1:c.1182C>T, XM_017011235.3:c.696C>T, XM_017011235.2:c.696C>T, XM_017011235.1:c.696C>T, XM_017011234.2:c.1284C>T, XM_017011234.1:c.1284C>T, XM_017011233.2:c.1320C>T, XM_017011233.1:c.1320C>T, XR_007059334.1:n.1176C>T

Select item 145823192618.

rs1458231926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50840284 (GRCh38)
6:50807997 (GRCh37)
Canonical SPDI:: NC_000006.12:50840283:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.50840284C>T, NC_000006.11:g.50807997C>T, NG_008438.1:g.26559C>T, NM_003221.4:c.1069C>T, NM_003221.3:c.1069C>T, XM_011514837.3:c.1096C>T, XM_011514837.2:c.1096C>T, XM_011514837.1:c.1096C>T, XM_017011235.3:c.610C>T, XM_017011235.2:c.610C>T, XM_017011235.1:c.610C>T, XM_017011234.2:c.1198C>T, XM_017011234.1:c.1198C>T, XM_017011233.2:c.1234C>T, XM_017011233.1:c.1234C>T, XR_007059334.1:n.1090C>T

Select item 145742763919.

rs1457427639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50838080 (GRCh38)
6:50805793 (GRCh37)
Canonical SPDI:: NC_000006.12:50838079:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.50838080C>T, NC_000006.11:g.50805793C>T, NG_008438.1:g.24355C>T, NM_003221.4:c.927C>T, NM_003221.3:c.927C>T, XM_011514837.3:c.954C>T, XM_011514837.2:c.954C>T, XM_011514837.1:c.954C>T, XM_017011235.3:c.468C>T, XM_017011235.2:c.468C>T, XM_017011235.1:c.468C>T, XM_017011234.2:c.1056C>T, XM_017011234.1:c.1056C>T, XM_017011233.2:c.1092C>T, XM_017011233.1:c.1092C>T, XR_007059334.1:n.948C>T

Select item 145470131220.

rs1454701312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:50823579 (GRCh38)
6:50791292 (GRCh37)
Canonical SPDI:: NC_000006.12:50823578:C:T
Gene:: TFAP2B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_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_000006.12:g.50823579C>T, NC_000006.11:g.50791292C>T, NG_008438.1:g.9854C>T, NM_003221.4:c.254C>T, NM_003221.3:c.254C>T, XM_011514837.3:c.281C>T, XM_011514837.2:c.281C>T, XM_011514837.1:c.281C>T, XM_017011234.2:c.383C>T, XM_017011234.1:c.383C>T, XM_017011233.2:c.419C>T, XM_017011233.1:c.419C>T, XR_007059334.1:n.275C>T, NP_003212.2:p.Pro85Leu, XP_011513139.1:p.Pro94Leu, XP_016866723.1:p.Pro128Leu, XP_016866722.1:p.Pro140Leu

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