SNP Links for Protein (Select 166063995) - SNP

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Links from Protein

Items: 1 to 20 of 421

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Select item 14905137351.

rs1490513735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27435509 (GRCh38)
13:28009646 (GRCh37)
Canonical SPDI:: NC_000013.11:27435508:A:G
Gene:: GTF3A (Varview), MTIF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.27435509A>G, NC_000013.10:g.28009646A>G, NM_002097.3:c.1010A>G, NM_002097.2:c.1010A>G, NP_002088.2:p.Gln337Arg

Select item 14870072582.

rs1487007258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:27434171 (GRCh38)
13:28008308 (GRCh37)
Canonical SPDI:: NC_000013.11:27434170:G:A
Gene:: GTF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27434171G>A, NC_000013.10:g.28008308G>A, NM_002097.3:c.595G>A, NM_002097.2:c.595G>A, NP_002088.2:p.Ala199Thr

Select item 14835872833.

rs1483587283 [Homo sapiens]

Variant type:: DEL
Alleles:: AGG>- [Show Flanks]
Chromosome:: 13:27432793 (GRCh38)
13:28006930 (GRCh37)
Canonical SPDI:: NC_000013.11:27432792:AGG:
Gene:: GTF3A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27432793_27432795del, NC_000013.10:g.28006930_28006932del, NM_002097.3:c.551_553del, NM_002097.2:c.551_553del, NP_002088.2:p.Lys184_Ala185delinsThr

Select item 14832411354.

rs1483241135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:27424808 (GRCh38)
13:27998945 (GRCh37)
Canonical SPDI:: NC_000013.11:27424807:G:A,NC_000013.11:27424807:G:C,NC_000013.11:27424807:G:T
Gene:: GTF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.27424808G>A, NC_000013.11:g.27424808G>C, NC_000013.11:g.27424808G>T, NC_000013.10:g.27998945G>A, NC_000013.10:g.27998945G>C, NC_000013.10:g.27998945G>T, NM_002097.3:c.71G>A, NM_002097.3:c.71G>C, NM_002097.3:c.71G>T, NM_002097.2:c.71G>A, NM_002097.2:c.71G>C, NM_002097.2:c.71G>T, NP_002088.2:p.Gly24Asp, NP_002088.2:p.Gly24Ala, NP_002088.2:p.Gly24Val

Select item 14816317055.

rs1481631705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:27430614 (GRCh38)
13:28004751 (GRCh37)
Canonical SPDI:: NC_000013.11:27430613:C:G
Gene:: GTF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27430614C>G, NC_000013.10:g.28004751C>G, NM_002097.3:c.481C>G, NM_002097.2:c.481C>G, NP_002088.2:p.Leu161Val

Select item 14814461896.

rs1481446189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:27434991 (GRCh38)
13:28009128 (GRCh37)
Canonical SPDI:: NC_000013.11:27434990:T:C,NC_000013.11:27434990:T:G
Gene:: GTF3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.27434991T>C, NC_000013.11:g.27434991T>G, NC_000013.10:g.28009128T>C, NC_000013.10:g.28009128T>G, NM_002097.3:c.830T>C, NM_002097.3:c.830T>G, NM_002097.2:c.830T>C, NM_002097.2:c.830T>G, NP_002088.2:p.Phe277Ser, NP_002088.2:p.Phe277Cys

Select item 14804635447.

rs1480463544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27435439 (GRCh38)
13:28009576 (GRCh37)
Canonical SPDI:: NC_000013.11:27435438:A:G
Gene:: GTF3A (Varview), MTIF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27435439A>G, NC_000013.10:g.28009576A>G, NM_002097.3:c.940A>G, NM_002097.2:c.940A>G, NP_002088.2:p.Lys314Glu

Select item 14791869258.

rs1479186925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:27424833 (GRCh38)
13:27998970 (GRCh37)
Canonical SPDI:: NC_000013.11:27424832:G:A
Gene:: GTF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000013.11:g.27424833G>A, NC_000013.10:g.27998970G>A, NM_002097.3:c.96G>A, NM_002097.2:c.96G>A

Select item 14731244579.

rs1473124457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:27424917 (GRCh38)
13:27999054 (GRCh37)
Canonical SPDI:: NC_000013.11:27424916:C:T
Gene:: GTF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000013.11:g.27424917C>T, NC_000013.10:g.27999054C>T, NM_002097.3:c.180C>T, NM_002097.2:c.180C>T

Select item 147214373610.

rs1472143736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27427180 (GRCh38)
13:28001317 (GRCh37)
Canonical SPDI:: NC_000013.11:27427179:A:G
Gene:: GTF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.27427180A>G, NC_000013.10:g.28001317A>G, NM_002097.3:c.290A>G, NM_002097.2:c.290A>G, NP_002088.2:p.Glu97Gly

Select item 147151981011.

rs1471519810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:27435516 (GRCh38)
13:28009653 (GRCh37)
Canonical SPDI:: NC_000013.11:27435515:A:T
Gene:: GTF3A (Varview), MTIF3 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_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_000013.11:g.27435516A>T, NC_000013.10:g.28009653A>T, NM_002097.3:c.1017A>T, NM_002097.2:c.1017A>T, NP_002088.2:p.Leu339Phe

Select item 146531997312.

rs1465319973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:27424822 (GRCh38)
13:27998959 (GRCh37)
Canonical SPDI:: NC_000013.11:27424821:C:G,NC_000013.11:27424821:C:T
Gene:: GTF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27424822C>G, NC_000013.11:g.27424822C>T, NC_000013.10:g.27998959C>G, NC_000013.10:g.27998959C>T, NM_002097.3:c.85C>G, NM_002097.3:c.85C>T, NM_002097.2:c.85C>G, NM_002097.2:c.85C>T, NP_002088.2:p.Pro29Ala, NP_002088.2:p.Pro29Ser

Select item 146273566113.

rs1462735661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 13:27435152 (GRCh38)
13:28009289 (GRCh37)
Canonical SPDI:: NC_000013.11:27435151:C:A,NC_000013.11:27435151:C:G
Gene:: GTF3A (Varview), MTIF3 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.27435152C>A, NC_000013.11:g.27435152C>G, NC_000013.10:g.28009289C>A, NC_000013.10:g.28009289C>G, NM_002097.3:c.893C>A, NM_002097.3:c.893C>G, NM_002097.2:c.893C>A, NM_002097.2:c.893C>G, NP_002088.2:p.Ala298Asp, NP_002088.2:p.Ala298Gly

Select item 146068925314.

rs1460689253 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:27429879 (GRCh38)
13:28004017 (GRCh37)
Canonical SPDI:: NC_000013.11:27429879:AA:AAA
Gene:: GTF3A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.27429881dup, NC_000013.10:g.28004018dup, NM_002097.3:c.314dup, NM_002097.2:c.314dup, NP_002088.2:p.Asn105fs

Select item 146037083015.

rs1460370830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:27427174 (GRCh38)
13:28001311 (GRCh37)
Canonical SPDI:: NC_000013.11:27427173:C:G
Gene:: GTF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000013.11:g.27427174C>G, NC_000013.10:g.28001311C>G, NM_002097.3:c.284C>G, NM_002097.2:c.284C>G, NP_002088.2:p.Thr95Arg

Select item 145845832016.

rs1458458320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:27429928 (GRCh38)
13:28004065 (GRCh37)
Canonical SPDI:: NC_000013.11:27429927:T:C,NC_000013.11:27429927:T:G
Gene:: GTF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.27429928T>C, NC_000013.11:g.27429928T>G, NC_000013.10:g.28004065T>C, NC_000013.10:g.28004065T>G, NM_002097.3:c.361T>C, NM_002097.3:c.361T>G, NM_002097.2:c.361T>C, NM_002097.2:c.361T>G, NP_002088.2:p.Phe121Leu, NP_002088.2:p.Phe121Val

Select item 145828354317.

rs1458283543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:27424839 (GRCh38)
13:27998976 (GRCh37)
Canonical SPDI:: NC_000013.11:27424838:C:A,NC_000013.11:27424838:C:T
Gene:: GTF3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000013.11:g.27424839C>A, NC_000013.11:g.27424839C>T, NC_000013.10:g.27998976C>A, NC_000013.10:g.27998976C>T, NM_002097.3:c.102C>A, NM_002097.3:c.102C>T, NM_002097.2:c.102C>A, NM_002097.2:c.102C>T

Select item 145743304518.

rs1457433045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27424925 (GRCh38)
13:27999062 (GRCh37)
Canonical SPDI:: NC_000013.11:27424924:A:G
Gene:: GTF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.27424925A>G, NC_000013.10:g.27999062A>G, NM_002097.3:c.188A>G, NM_002097.2:c.188A>G, NP_002088.2:p.Lys63Arg

Select item 145612720219.

rs1456127202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:27434202 (GRCh38)
13:28008339 (GRCh37)
Canonical SPDI:: NC_000013.11:27434201:T:G
Gene:: GTF3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.27434202T>G, NC_000013.10:g.28008339T>G, NM_002097.3:c.626T>G, NM_002097.2:c.626T>G, NP_002088.2:p.Val209Gly

Select item 145565217520.

rs1455652175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:27435524 (GRCh38)
13:28009661 (GRCh37)
Canonical SPDI:: NC_000013.11:27435523:G:T
Gene:: GTF3A (Varview), MTIF3 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27435524G>T, NC_000013.10:g.28009661G>T, NM_002097.3:c.1025G>T, NM_002097.2:c.1025G>T, NP_002088.2:p.Cys342Phe