SNP Links for Protein (Select 767977613) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:45185240 (GRCh38)
13:45759375 (GRCh37)
Canonical SPDI:: NC_000013.11:45185239:C:G
Gene:: GTF2F2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.45185240C>G, NC_000013.10:g.45759375C>G, XM_011535053.4:c.389C>G, XM_011535053.3:c.389C>G, XM_011535053.2:c.389C>G, XM_011535053.1:c.389C>G, XP_011533355.1:p.Ser130Cys

Select item 14136910359.

rs1413691035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:45120678 (GRCh38)
13:45694813 (GRCh37)
Canonical SPDI:: NC_000013.11:45120677:A:G,NC_000013.11:45120677:A:T
Gene:: GTF2F2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45120678A>G, NC_000013.11:g.45120678A>T, NC_000013.10:g.45694813A>G, NC_000013.10:g.45694813A>T, XM_011535052.4:c.23A>G, XM_011535052.4:c.23A>T, XM_011535052.3:c.23A>G, XM_011535052.3:c.23A>T, XM_011535052.2:c.23A>G, XM_011535052.2:c.23A>T, XM_011535052.1:c.23A>G, XM_011535052.1:c.23A>T, XM_011535053.4:c.23A>G, XM_011535053.4:c.23A>T, XM_011535053.3:c.23A>G, XM_011535053.3:c.23A>T, XM_011535053.2:c.23A>G, XM_011535053.2:c.23A>T, XM_011535053.1:c.23A>G, XM_011535053.1:c.23A>T, NM_004128.3:c.23A>G, NM_004128.3:c.23A>T, NM_004128.2:c.23A>G, NM_004128.2:c.23A>T, XP_011533354.1:p.Asp8Gly, XP_011533354.1:p.Asp8Val, XP_011533355.1:p.Asp8Gly, XP_011533355.1:p.Asp8Val, NP_004119.1:p.Asp8Gly, NP_004119.1:p.Asp8Val

Select item 140277741610.

rs1402777416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:45151804 (GRCh38)
13:45725939 (GRCh37)
Canonical SPDI:: NC_000013.11:45151803:T:C
Gene:: GTF2F2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45151804T>C, NC_000013.10:g.45725939T>C, XM_011535052.4:c.277T>C, XM_011535052.3:c.277T>C, XM_011535052.2:c.277T>C, XM_011535052.1:c.277T>C, XM_011535053.4:c.277T>C, XM_011535053.3:c.277T>C, XM_011535053.2:c.277T>C, XM_011535053.1:c.277T>C, NM_004128.3:c.277T>C, NM_004128.2:c.277T>C

Select item 139535164111.

rs1395351641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45151807 (GRCh38)
13:45725942 (GRCh37)
Canonical SPDI:: NC_000013.11:45151806:A:G
Gene:: GTF2F2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.45151807A>G, NC_000013.10:g.45725942A>G, XM_011535052.4:c.280A>G, XM_011535052.3:c.280A>G, XM_011535052.2:c.280A>G, XM_011535052.1:c.280A>G, XM_011535053.4:c.280A>G, XM_011535053.3:c.280A>G, XM_011535053.2:c.280A>G, XM_011535053.1:c.280A>G, NM_004128.3:c.280A>G, NM_004128.2:c.280A>G, XP_011533354.1:p.Thr94Ala, XP_011533355.1:p.Thr94Ala, NP_004119.1:p.Thr94Ala

Select item 138677661912.

rs1386776619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:45183474 (GRCh38)
13:45757609 (GRCh37)
Canonical SPDI:: NC_000013.11:45183473:G:T
Gene:: GTF2F2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.45183474G>T, NC_000013.10:g.45757609G>T, XM_011535052.4:c.378G>T, XM_011535052.3:c.378G>T, XM_011535052.2:c.378G>T, XM_011535052.1:c.378G>T, XM_011535053.4:c.378G>T, XM_011535053.3:c.378G>T, XM_011535053.2:c.378G>T, XM_011535053.1:c.378G>T

Select item 137883234513.

rs1378832345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45151823 (GRCh38)
13:45725958 (GRCh37)
Canonical SPDI:: NC_000013.11:45151822:G:A
Gene:: GTF2F2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45151823G>A, NC_000013.10:g.45725958G>A, XM_011535052.4:c.296G>A, XM_011535052.3:c.296G>A, XM_011535052.2:c.296G>A, XM_011535052.1:c.296G>A, XM_011535053.4:c.296G>A, XM_011535053.3:c.296G>A, XM_011535053.2:c.296G>A, XM_011535053.1:c.296G>A, NM_004128.3:c.296G>A, NM_004128.2:c.296G>A, XP_011533354.1:p.Ser99Asn, XP_011533355.1:p.Ser99Asn, NP_004119.1:p.Ser99Asn

Select item 137620864514.

rs1376208645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45149776 (GRCh38)
13:45723911 (GRCh37)
Canonical SPDI:: NC_000013.11:45149775:A:G
Gene:: GTF2F2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.45149776A>G, NC_000013.10:g.45723911A>G, XM_011535052.4:c.147A>G, XM_011535052.3:c.147A>G, XM_011535052.2:c.147A>G, XM_011535052.1:c.147A>G, XM_011535053.4:c.147A>G, XM_011535053.3:c.147A>G, XM_011535053.2:c.147A>G, XM_011535053.1:c.147A>G, NM_004128.3:c.147A>G, NM_004128.2:c.147A>G

Select item 136605959715.

rs1366059597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:45136781 (GRCh38)
13:45710916 (GRCh37)
Canonical SPDI:: NC_000013.11:45136780:G:C
Gene:: GTF2F2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_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_000013.11:g.45136781G>C, NC_000013.10:g.45710916G>C, XM_011535052.4:c.115G>C, XM_011535052.3:c.115G>C, XM_011535052.2:c.115G>C, XM_011535052.1:c.115G>C, XM_011535053.4:c.115G>C, XM_011535053.3:c.115G>C, XM_011535053.2:c.115G>C, XM_011535053.1:c.115G>C, NM_004128.3:c.115G>C, NM_004128.2:c.115G>C, XP_011533354.1:p.Glu39Gln, XP_011533355.1:p.Glu39Gln, NP_004119.1:p.Glu39Gln

Select item 134172675716.

rs1341726757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:45151796 (GRCh38)
13:45725931 (GRCh37)
Canonical SPDI:: NC_000013.11:45151795:G:T
Gene:: GTF2F2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45151796G>T, NC_000013.10:g.45725931G>T, XM_011535052.4:c.269G>T, XM_011535052.3:c.269G>T, XM_011535052.2:c.269G>T, XM_011535052.1:c.269G>T, XM_011535053.4:c.269G>T, XM_011535053.3:c.269G>T, XM_011535053.2:c.269G>T, XM_011535053.1:c.269G>T, NM_004128.3:c.269G>T, NM_004128.2:c.269G>T, XP_011533354.1:p.Gly90Val, XP_011533355.1:p.Gly90Val, NP_004119.1:p.Gly90Val

Select item 133896985817.

rs1338969858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:45185245 (GRCh38)
13:45759380 (GRCh37)
Canonical SPDI:: NC_000013.11:45185244:T:C
Gene:: GTF2F2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,stop_lost,terminator_codon_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_000013.11:g.45185245T>C, NC_000013.10:g.45759380T>C, XM_011535053.4:c.394T>C, XM_011535053.3:c.394T>C, XM_011535053.2:c.394T>C, XM_011535053.1:c.394T>C, XP_011533355.1:p.Ter132Arg

Select item 133709722718.

rs1337097227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45120720 (GRCh38)
13:45694855 (GRCh37)
Canonical SPDI:: NC_000013.11:45120719:A:G
Gene:: GTF2F2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45120720A>G, NC_000013.10:g.45694855A>G, XM_011535052.4:c.65A>G, XM_011535052.3:c.65A>G, XM_011535052.2:c.65A>G, XM_011535052.1:c.65A>G, XM_011535053.4:c.65A>G, XM_011535053.3:c.65A>G, XM_011535053.2:c.65A>G, XM_011535053.1:c.65A>G, NM_004128.3:c.65A>G, NM_004128.2:c.65A>G, XP_011533354.1:p.Lys22Arg, XP_011533355.1:p.Lys22Arg, NP_004119.1:p.Lys22Arg

Select item 132416737319.

rs1324167373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45120702 (GRCh38)
13:45694837 (GRCh37)
Canonical SPDI:: NC_000013.11:45120701:C:T
Gene:: GTF2F2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45120702C>T, NC_000013.10:g.45694837C>T, XM_011535052.4:c.47C>T, XM_011535052.3:c.47C>T, XM_011535052.2:c.47C>T, XM_011535052.1:c.47C>T, XM_011535053.4:c.47C>T, XM_011535053.3:c.47C>T, XM_011535053.2:c.47C>T, XM_011535053.1:c.47C>T, NM_004128.3:c.47C>T, NM_004128.2:c.47C>T, XP_011533354.1:p.Thr16Ile, XP_011533355.1:p.Thr16Ile, NP_004119.1:p.Thr16Ile

Select item 131977713920.

rs1319777139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45151748 (GRCh38)
13:45725883 (GRCh37)
Canonical SPDI:: NC_000013.11:45151747:C:T
Gene:: GTF2F2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.45151748C>T, NC_000013.10:g.45725883C>T, XM_011535052.4:c.221C>T, XM_011535052.3:c.221C>T, XM_011535052.2:c.221C>T, XM_011535052.1:c.221C>T, XM_011535053.4:c.221C>T, XM_011535053.3:c.221C>T, XM_011535053.2:c.221C>T, XM_011535053.1:c.221C>T, NM_004128.3:c.221C>T, NM_004128.2:c.221C>T, XP_011533354.1:p.Ser74Leu, XP_011533355.1:p.Ser74Leu, NP_004119.1:p.Ser74Leu

<< First< Prev

Page of 6

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 108

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity