SNP Links for Protein (Select 282847373) - SNP

Links from Protein

Items: 1 to 20 of 707

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Select item 14908889041.

rs1490888904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89950666 (GRCh38)
6:90660385 (GRCh37)
Canonical SPDI:: NC_000006.12:89950665:G:A
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89950666G>A, NC_000006.11:g.90660385G>A, NM_021813.4:c.1440C>T, NM_021813.3:c.1440C>T, NM_021813.2:c.1440C>T, NM_001170794.2:c.1440C>T, NM_001170794.1:c.1440C>T

Select item 14894259092.

rs1489425909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89938162 (GRCh38)
6:90647881 (GRCh37)
Canonical SPDI:: NC_000006.12:89938161:T:C
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.89938162T>C, NC_000006.11:g.90647881T>C, NW_017363815.1:g.135850T>C, NM_021813.4:c.2025A>G, NM_021813.3:c.2025A>G, NM_021813.2:c.2025A>G, NM_001170794.2:c.2025A>G, NM_001170794.1:c.2025A>G

Select item 14882270893.

rs1488227089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:89950575 (GRCh38)
6:90660294 (GRCh37)
Canonical SPDI:: NC_000006.12:89950574:G:T
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89950575G>T, NC_000006.11:g.90660294G>T, NM_021813.4:c.1531C>A, NM_021813.3:c.1531C>A, NM_021813.2:c.1531C>A, NM_001170794.2:c.1531C>A, NM_001170794.1:c.1531C>A, NP_068585.1:p.Pro511Thr, NP_001164265.1:p.Pro511Thr

Select item 14873297354.

rs1487329735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89950796 (GRCh38)
6:90660515 (GRCh37)
Canonical SPDI:: NC_000006.12:89950795:G:A
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89950796G>A, NC_000006.11:g.90660515G>A, NM_021813.4:c.1310C>T, NM_021813.3:c.1310C>T, NM_021813.2:c.1310C>T, NM_001170794.2:c.1310C>T, NM_001170794.1:c.1310C>T, NP_068585.1:p.Ala437Val, NP_001164265.1:p.Ala437Val

Select item 14862086515.

rs1486208651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:89950632 (GRCh38)
6:90660351 (GRCh37)
Canonical SPDI:: NC_000006.12:89950631:C:G
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89950632C>G, NC_000006.11:g.90660351C>G, NM_021813.4:c.1474G>C, NM_021813.3:c.1474G>C, NM_021813.2:c.1474G>C, NM_001170794.2:c.1474G>C, NM_001170794.1:c.1474G>C, NP_068585.1:p.Gly492Arg, NP_001164265.1:p.Gly492Arg

Select item 14855425946.

rs1485542594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:89951475 (GRCh38)
6:90661194 (GRCh37)
Canonical SPDI:: NC_000006.12:89951474:C:T
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89951475C>T, NC_000006.11:g.90661194C>T, NM_021813.4:c.631G>A, NM_021813.3:c.631G>A, NM_021813.2:c.631G>A, NM_001170794.2:c.631G>A, NM_001170794.1:c.631G>A, NP_068585.1:p.Asp211Asn, NP_001164265.1:p.Asp211Asn

Select item 14847513017.

rs1484751301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89951368 (GRCh38)
6:90661087 (GRCh37)
Canonical SPDI:: NC_000006.12:89951367:T:C
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.89951368T>C, NC_000006.11:g.90661087T>C, NM_021813.4:c.738A>G, NM_021813.3:c.738A>G, NM_021813.2:c.738A>G, NM_001170794.2:c.738A>G, NM_001170794.1:c.738A>G

Select item 14821996318.

rs1482199631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:89950497 (GRCh38)
6:90660216 (GRCh37)
Canonical SPDI:: NC_000006.12:89950496:G:A,NC_000006.12:89950496:G:T
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89950497G>A, NC_000006.12:g.89950497G>T, NC_000006.11:g.90660216G>A, NC_000006.11:g.90660216G>T, NM_021813.4:c.1609C>T, NM_021813.4:c.1609C>A, NM_021813.3:c.1609C>T, NM_021813.3:c.1609C>A, NM_021813.2:c.1609C>T, NM_021813.2:c.1609C>A, NM_001170794.2:c.1609C>T, NM_001170794.2:c.1609C>A, NM_001170794.1:c.1609C>T, NM_001170794.1:c.1609C>A, NP_068585.1:p.Pro537Ser, NP_068585.1:p.Pro537Thr, NP_001164265.1:p.Pro537Ser, NP_001164265.1:p.Pro537Thr

Select item 14791962779.

rs1479196277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89938267 (GRCh38)
6:90647986 (GRCh37)
Canonical SPDI:: NC_000006.12:89938266:G:A
Gene:: BACH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000006.12:g.89938267G>A, NC_000006.11:g.90647986G>A, NW_017363815.1:g.135955G>A, NM_021813.4:c.1920C>T, NM_021813.3:c.1920C>T, NM_021813.2:c.1920C>T, NM_001170794.2:c.1920C>T, NM_001170794.1:c.1920C>T

Select item 147835128610.

rs1478351286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89950491 (GRCh38)
6:90660210 (GRCh37)
Canonical SPDI:: NC_000006.12:89950490:T:C
Gene:: BACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89950491T>C, NC_000006.11:g.90660210T>C, NM_021813.4:c.1615A>G, NM_021813.3:c.1615A>G, NM_021813.2:c.1615A>G, NM_001170794.2:c.1615A>G, NM_001170794.1:c.1615A>G, NP_068585.1:p.Ser539Gly, NP_001164265.1:p.Ser539Gly

Select item 147789703611.

rs1477897036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89950415 (GRCh38)
6:90660134 (GRCh37)
Canonical SPDI:: NC_000006.12:89950414:G:A
Gene:: BACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89950415G>A, NC_000006.11:g.90660134G>A, NM_021813.4:c.1691C>T, NM_021813.3:c.1691C>T, NM_021813.2:c.1691C>T, NM_001170794.2:c.1691C>T, NM_001170794.1:c.1691C>T, NP_068585.1:p.Pro564Leu, NP_001164265.1:p.Pro564Leu

Select item 147733258512.

rs1477332585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:89950878 (GRCh38)
6:90660597 (GRCh37)
Canonical SPDI:: NC_000006.12:89950877:G:C
Gene:: BACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89950878G>C, NC_000006.11:g.90660597G>C, NM_021813.4:c.1228C>G, NM_021813.3:c.1228C>G, NM_021813.2:c.1228C>G, NM_001170794.2:c.1228C>G, NM_001170794.1:c.1228C>G, NP_068585.1:p.Pro410Ala, NP_001164265.1:p.Pro410Ala

Select item 147721835313.

rs1477218353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:89951479 (GRCh38)
6:90661198 (GRCh37)
Canonical SPDI:: NC_000006.12:89951478:C:G
Gene:: BACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.89951479C>G, NC_000006.11:g.90661198C>G, NM_021813.4:c.627G>C, NM_021813.3:c.627G>C, NM_021813.2:c.627G>C, NM_001170794.2:c.627G>C, NM_001170794.1:c.627G>C, NP_068585.1:p.Glu209Asp, NP_001164265.1:p.Glu209Asp

Select item 147494843214.

rs1474948432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89951657 (GRCh38)
6:90661376 (GRCh37)
Canonical SPDI:: NC_000006.12:89951656:T:C
Gene:: BACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89951657T>C, NC_000006.11:g.90661376T>C, NM_021813.4:c.449A>G, NM_021813.3:c.449A>G, NM_021813.2:c.449A>G, NM_001170794.2:c.449A>G, NM_001170794.1:c.449A>G, NP_068585.1:p.Gln150Arg, NP_001164265.1:p.Gln150Arg

Select item 147364908015.

rs1473649080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:89951083 (GRCh38)
6:90660802 (GRCh37)
Canonical SPDI:: NC_000006.12:89951082:T:C,NC_000006.12:89951082:T:G
Gene:: BACH2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89951083T>C, NC_000006.12:g.89951083T>G, NC_000006.11:g.90660802T>C, NC_000006.11:g.90660802T>G, NM_021813.4:c.1023A>G, NM_021813.4:c.1023A>C, NM_021813.3:c.1023A>G, NM_021813.3:c.1023A>C, NM_021813.2:c.1023A>G, NM_021813.2:c.1023A>C, NM_001170794.2:c.1023A>G, NM_001170794.2:c.1023A>C, NM_001170794.1:c.1023A>G, NM_001170794.1:c.1023A>C, NP_068585.1:p.Leu341Phe, NP_001164265.1:p.Leu341Phe

Select item 147354769516.

rs1473547695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89951855 (GRCh38)
6:90661574 (GRCh37)
Canonical SPDI:: NC_000006.12:89951854:G:A
Gene:: BACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89951855G>A, NC_000006.11:g.90661574G>A, NM_021813.4:c.251C>T, NM_021813.3:c.251C>T, NM_021813.2:c.251C>T, NM_001170794.2:c.251C>T, NM_001170794.1:c.251C>T, NP_068585.1:p.Ala84Val, NP_001164265.1:p.Ala84Val

Select item 147325747717.

rs1473257477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89950964 (GRCh38)
6:90660683 (GRCh37)
Canonical SPDI:: NC_000006.12:89950963:A:G
Gene:: BACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89950964A>G, NC_000006.11:g.90660683A>G, NM_021813.4:c.1142T>C, NM_021813.3:c.1142T>C, NM_021813.2:c.1142T>C, NM_001170794.2:c.1142T>C, NM_001170794.1:c.1142T>C, NP_068585.1:p.Leu381Pro, NP_001164265.1:p.Leu381Pro

Select item 147322268918.

rs1473222689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89951497 (GRCh38)
6:90661216 (GRCh37)
Canonical SPDI:: NC_000006.12:89951496:T:C
Gene:: BACH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.89951497T>C, NC_000006.11:g.90661216T>C, NM_021813.4:c.609A>G, NM_021813.3:c.609A>G, NM_021813.2:c.609A>G, NM_001170794.2:c.609A>G, NM_001170794.1:c.609A>G

Select item 147304710319.

rs1473047103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:89951736 (GRCh38)
6:90661455 (GRCh37)
Canonical SPDI:: NC_000006.12:89951735:A:C,NC_000006.12:89951735:A:G
Gene:: BACH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.89951736A>C, NC_000006.12:g.89951736A>G, NC_000006.11:g.90661455A>C, NC_000006.11:g.90661455A>G, NM_021813.4:c.370T>G, NM_021813.4:c.370T>C, NM_021813.3:c.370T>G, NM_021813.3:c.370T>C, NM_021813.2:c.370T>G, NM_021813.2:c.370T>C, NM_001170794.2:c.370T>G, NM_001170794.2:c.370T>C, NM_001170794.1:c.370T>G, NM_001170794.1:c.370T>C, NP_068585.1:p.Ser124Ala, NP_068585.1:p.Ser124Pro, NP_001164265.1:p.Ser124Ala, NP_001164265.1:p.Ser124Pro

Select item 147203724920.

rs1472037249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89932549 (GRCh38)
6:90642268 (GRCh37)
Canonical SPDI:: NC_000006.12:89932548:T:C
Gene:: BACH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89932549T>C, NC_000006.11:g.90642268T>C, NW_017363815.1:g.130237T>C, NM_021813.4:c.2385A>G, NM_021813.3:c.2385A>G, NM_021813.2:c.2385A>G, NM_001170794.2:c.2385A>G, NM_001170794.1:c.2385A>G

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