SNP Links for Protein (Select 10337613) - SNP

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:122022109 (GRCh38)
12:122460015 (GRCh37)
Canonical SPDI:: NC_000012.12:122022108:T:G
Gene:: BCL7A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122022109T>G, NC_000012.11:g.122460015T>G, NM_020993.5:c.18T>G, NM_020993.4:c.18T>G, NM_020993.3:c.18T>G, NM_001024808.3:c.18T>G, NM_001024808.2:c.18T>G, NM_001024808.1:c.18T>G

Select item 143360349611.

rs1433603496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:122030714 (GRCh38)
12:122468620 (GRCh37)
Canonical SPDI:: NC_000012.12:122030713:T:A
Gene:: BCL7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122030714T>A, NC_000012.11:g.122468620T>A, NM_020993.5:c.107T>A, NM_020993.4:c.107T>A, NM_020993.3:c.107T>A, NM_001024808.3:c.107T>A, NM_001024808.2:c.107T>A, NM_001024808.1:c.107T>A, NP_066273.1:p.Val36Glu, NP_001019979.1:p.Val36Glu

Select item 142151268112.

rs1421512681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122035345 (GRCh38)
12:122473251 (GRCh37)
Canonical SPDI:: NC_000012.12:122035344:G:A
Gene:: BCL7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.122035345G>A, NC_000012.11:g.122473251G>A, NM_020993.5:c.189G>A, NM_020993.4:c.189G>A, NM_020993.3:c.189G>A, NM_001024808.3:c.189G>A, NM_001024808.2:c.189G>A, NM_001024808.1:c.189G>A

Select item 141555138913.

rs1415551389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:122035342 (GRCh38)
12:122473248 (GRCh37)
Canonical SPDI:: NC_000012.12:122035341:T:A
Gene:: BCL7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.122035342T>A, NC_000012.11:g.122473248T>A, NM_020993.5:c.186T>A, NM_020993.4:c.186T>A, NM_020993.3:c.186T>A, NM_001024808.3:c.186T>A, NM_001024808.2:c.186T>A, NM_001024808.1:c.186T>A, NP_066273.1:p.Asn62Lys, NP_001019979.1:p.Asn62Lys

Select item 141433806714.

rs1414338067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122044035 (GRCh38)
12:122481941 (GRCh37)
Canonical SPDI:: NC_000012.12:122044034:G:A
Gene:: BCL7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.122044035G>A, NC_000012.11:g.122481941G>A, NM_020993.5:c.421G>A, NM_020993.4:c.421G>A, NM_020993.3:c.421G>A, NM_001024808.3:c.421G>A, NM_001024808.2:c.421G>A, NM_001024808.1:c.421G>A, NP_066273.1:p.Glu141Lys, NP_001019979.1:p.Glu141Lys

Select item 141147857715.

rs1411478577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:122043970 (GRCh38)
12:122481876 (GRCh37)
Canonical SPDI:: NC_000012.12:122043969:C:G
Gene:: BCL7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122043970C>G, NC_000012.11:g.122481876C>G, NM_020993.5:c.356C>G, NM_020993.4:c.356C>G, NM_020993.3:c.356C>G, NM_001024808.3:c.356C>G, NM_001024808.2:c.356C>G, NM_001024808.1:c.356C>G, NP_066273.1:p.Pro119Arg, NP_001019979.1:p.Pro119Arg

Select item 140197638216.

rs1401976382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122035389 (GRCh38)
12:122473295 (GRCh37)
Canonical SPDI:: NC_000012.12:122035388:C:T
Gene:: BCL7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122035389C>T, NC_000012.11:g.122473295C>T, NM_020993.5:c.233C>T, NM_020993.4:c.233C>T, NM_020993.3:c.233C>T, NM_001024808.3:c.233C>T, NM_001024808.2:c.233C>T, NM_001024808.1:c.233C>T, NP_066273.1:p.Pro78Leu, NP_001019979.1:p.Pro78Leu

Select item 140125391317.

rs1401253913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:122044011 (GRCh38)
12:122481917 (GRCh37)
Canonical SPDI:: NC_000012.12:122044010:G:T
Gene:: BCL7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122044011G>T, NC_000012.11:g.122481917G>T, NM_020993.5:c.397G>T, NM_020993.4:c.397G>T, NM_020993.3:c.397G>T, NM_001024808.3:c.397G>T, NM_001024808.2:c.397G>T, NM_001024808.1:c.397G>T, NP_066273.1:p.Asp133Tyr, NP_001019979.1:p.Asp133Tyr

Select item 139770980118.

rs1397709801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122035405 (GRCh38)
12:122473311 (GRCh37)
Canonical SPDI:: NC_000012.12:122035404:C:T
Gene:: BCL7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122035405C>T, NC_000012.11:g.122473311C>T, NM_020993.5:c.249C>T, NM_020993.4:c.249C>T, NM_020993.3:c.249C>T, NM_001024808.3:c.249C>T, NM_001024808.2:c.249C>T, NM_001024808.1:c.249C>T

Select item 139758931519.

rs1397589315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:122054959 (GRCh38)
12:122492865 (GRCh37)
Canonical SPDI:: NC_000012.12:122054958:G:A,NC_000012.12:122054958:G:C
Gene:: BCL7A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122054959G>A, NC_000012.12:g.122054959G>C, NC_000012.11:g.122492865G>A, NC_000012.11:g.122492865G>C, NM_020993.5:c.594G>A, NM_020993.5:c.594G>C, NM_020993.4:c.594G>A, NM_020993.4:c.594G>C, NM_020993.3:c.594G>A, NM_020993.3:c.594G>C, NP_066273.1:p.Gln198His

Select item 139198410220.

rs1391984102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:122054890 (GRCh38)
12:122492796 (GRCh37)
Canonical SPDI:: NC_000012.12:122054889:C:G
Gene:: BCL7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122054890C>G, NC_000012.11:g.122492796C>G, NM_020993.5:c.525C>G, NM_020993.4:c.525C>G, NM_020993.3:c.525C>G, NM_001024808.3:c.525C>G, NM_001024808.2:c.525C>G, NM_001024808.1:c.525C>G, NP_066273.1:p.Asp175Glu, NP_001019979.1:p.Asp175Glu

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