SNP Links for Protein (Select 13899338) - SNP

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Links from Protein

Items: 1 to 20 of 332

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Select item 14892765071.

rs1489276507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57456186 (GRCh38)
12:57849969 (GRCh37)
Canonical SPDI:: NC_000012.12:57456185:C:A
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.57456186C>A, NC_000012.11:g.57849969C>A, NG_029564.1:g.1052C>A, NM_031479.5:c.391C>A, NM_031479.4:c.391C>A, NM_031479.3:c.391C>A, NP_113667.1:p.Leu131Ile

Select item 14838261142.

rs1483826114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57455622 (GRCh38)
12:57849405 (GRCh37)
Canonical SPDI:: NC_000012.12:57455621:G:A
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57455622G>A, NC_000012.11:g.57849405G>A, NG_029564.1:g.488G>A, NM_031479.5:c.86G>A, NM_031479.4:c.86G>A, NM_031479.3:c.86G>A, NP_113667.1:p.Cys29Tyr

Select item 14788395973.

rs1478839597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57455818 (GRCh38)
12:57849601 (GRCh37)
Canonical SPDI:: NC_000012.12:57455817:C:G
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57455818C>G, NC_000012.11:g.57849601C>G, NG_029564.1:g.684C>G, NM_031479.5:c.282C>G, NM_031479.4:c.282C>G, NM_031479.3:c.282C>G, NP_113667.1:p.Ser94Arg

Select item 14694061244.

rs1469406124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57456845 (GRCh38)
12:57850628 (GRCh37)
Canonical SPDI:: NC_000012.12:57456844:C:T
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57456845C>T, NC_000012.11:g.57850628C>T, NG_029564.1:g.1711C>T, NM_031479.5:c.1050C>T, NM_031479.4:c.1050C>T, NM_031479.3:c.1050C>T

Select item 14637829705.

rs1463782970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57455644 (GRCh38)
12:57849427 (GRCh37)
Canonical SPDI:: NC_000012.12:57455643:C:A
Gene:: INHBE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57455644C>A, NC_000012.11:g.57849427C>A, NG_029564.1:g.510C>A, NM_031479.5:c.108C>A, NM_031479.4:c.108C>A, NM_031479.3:c.108C>A

Select item 14586834346.

rs1458683434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57456248 (GRCh38)
12:57850031 (GRCh37)
Canonical SPDI:: NC_000012.12:57456247:C:G
Gene:: INHBE (Varview)
Functional Consequence:: synonymous_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_000012.12:g.57456248C>G, NC_000012.11:g.57850031C>G, NG_029564.1:g.1114C>G, NM_031479.5:c.453C>G, NM_031479.4:c.453C>G, NM_031479.3:c.453C>G

Select item 14583401237.

rs1458340123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57455660 (GRCh38)
12:57849443 (GRCh37)
Canonical SPDI:: NC_000012.12:57455659:C:G
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57455660C>G, NC_000012.11:g.57849443C>G, NG_029564.1:g.526C>G, NM_031479.5:c.124C>G, NM_031479.4:c.124C>G, NM_031479.3:c.124C>G, NP_113667.1:p.Leu42Val

Select item 14581118128.

rs1458111812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57456824 (GRCh38)
12:57850607 (GRCh37)
Canonical SPDI:: NC_000012.12:57456823:G:A
Gene:: INHBE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57456824G>A, NC_000012.11:g.57850607G>A, NG_029564.1:g.1690G>A, NM_031479.5:c.1029G>A, NM_031479.4:c.1029G>A, NM_031479.3:c.1029G>A

Select item 14580531899.

rs1458053189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57456429 (GRCh38)
12:57850212 (GRCh37)
Canonical SPDI:: NC_000012.12:57456428:G:A
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57456429G>A, NC_000012.11:g.57850212G>A, NG_029564.1:g.1295G>A, NM_031479.5:c.634G>A, NM_031479.4:c.634G>A, NM_031479.3:c.634G>A, NP_113667.1:p.Ala212Thr

Select item 145549856610.

rs1455498566 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:57456663 (GRCh38)
12:57850446 (GRCh37)
Canonical SPDI:: NC_000012.12:57456662:AT:
Gene:: INHBE (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57456663_57456664del, NC_000012.11:g.57850446_57850447del, NG_029564.1:g.1529_1530del, NM_031479.5:c.868_869del, NM_031479.4:c.868_869del, NM_031479.3:c.868_869del, NP_113667.1:p.Ile290fs

Select item 144645861311.

rs1446458613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57456342 (GRCh38)
12:57850125 (GRCh37)
Canonical SPDI:: NC_000012.12:57456341:T:C
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57456342T>C, NC_000012.11:g.57850125T>C, NG_029564.1:g.1208T>C, NM_031479.5:c.547T>C, NM_031479.4:c.547T>C, NM_031479.3:c.547T>C, NP_113667.1:p.Ser183Pro

Select item 144166075112.

rs1441660751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57455550 (GRCh38)
12:57849333 (GRCh37)
Canonical SPDI:: NC_000012.12:57455549:A:G
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57455550A>G, NC_000012.11:g.57849333A>G, NG_029564.1:g.416A>G, NM_031479.5:c.14A>G, NM_031479.4:c.14A>G, NM_031479.3:c.14A>G, NP_113667.1:p.Asp5Gly

Select item 144031200513.

rs1440312005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57456753 (GRCh38)
12:57850536 (GRCh37)
Canonical SPDI:: NC_000012.12:57456752:C:T
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57456753C>T, NC_000012.11:g.57850536C>T, NG_029564.1:g.1619C>T, NM_031479.5:c.958C>T, NM_031479.4:c.958C>T, NM_031479.3:c.958C>T, NP_113667.1:p.Arg320Ter

Select item 143708923514.

rs1437089235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57456158 (GRCh38)
12:57849941 (GRCh37)
Canonical SPDI:: NC_000012.12:57456157:G:T
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57456158G>T, NC_000012.11:g.57849941G>T, NG_029564.1:g.1024G>T, NM_031479.5:c.363G>T, NM_031479.4:c.363G>T, NM_031479.3:c.363G>T

Select item 143347330515.

rs1433473305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57456264 (GRCh38)
12:57850047 (GRCh37)
Canonical SPDI:: NC_000012.12:57456263:C:T
Gene:: INHBE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57456264C>T, NC_000012.11:g.57850047C>T, NG_029564.1:g.1130C>T, NM_031479.5:c.469C>T, NM_031479.4:c.469C>T, NM_031479.3:c.469C>T, NP_113667.1:p.Leu157Phe

Select item 142473181416.

rs1424731814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57456488 (GRCh38)
12:57850271 (GRCh37)
Canonical SPDI:: NC_000012.12:57456487:C:T
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57456488C>T, NC_000012.11:g.57850271C>T, NG_029564.1:g.1354C>T, NM_031479.5:c.693C>T, NM_031479.4:c.693C>T, NM_031479.3:c.693C>T

Select item 142362539117.

rs1423625391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57455629 (GRCh38)
12:57849412 (GRCh37)
Canonical SPDI:: NC_000012.12:57455628:C:T
Gene:: INHBE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.57455629C>T, NC_000012.11:g.57849412C>T, NG_029564.1:g.495C>T, NM_031479.5:c.93C>T, NM_031479.4:c.93C>T, NM_031479.3:c.93C>T

Select item 142139614418.

rs1421396144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:57455741 (GRCh38)
12:57849524 (GRCh37)
Canonical SPDI:: NC_000012.12:57455740:C:G,NC_000012.12:57455740:C:T
Gene:: INHBE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.57455741C>G, NC_000012.12:g.57455741C>T, NC_000012.11:g.57849524C>G, NC_000012.11:g.57849524C>T, NG_029564.1:g.607C>G, NG_029564.1:g.607C>T, NM_031479.5:c.205C>G, NM_031479.5:c.205C>T, NM_031479.4:c.205C>G, NM_031479.4:c.205C>T, NM_031479.3:c.205C>G, NM_031479.3:c.205C>T, NP_113667.1:p.Gln69Glu, NP_113667.1:p.Gln69Ter

Select item 142061050619.

rs1420610506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:57456651 (GRCh38)
12:57850434 (GRCh37)
Canonical SPDI:: NC_000012.12:57456650:G:C
Gene:: INHBE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57456651G>C, NC_000012.11:g.57850434G>C, NG_029564.1:g.1517G>C, NM_031479.5:c.856G>C, NM_031479.4:c.856G>C, NM_031479.3:c.856G>C, NP_113667.1:p.Gly286Arg

Select item 142006175620.

rs1420061756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57456676 (GRCh38)
12:57850459 (GRCh37)
Canonical SPDI:: NC_000012.12:57456675:T:C
Gene:: INHBE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57456676T>C, NC_000012.11:g.57850459T>C, NG_029564.1:g.1542T>C, NM_031479.5:c.881T>C, NM_031479.4:c.881T>C, NM_031479.3:c.881T>C, NP_113667.1:p.Phe294Ser

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