SNP Links for Protein (Select 30581111) - SNP

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Links from Protein

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Select item 14905793701.

rs1490579370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:31514714 (GRCh38)
20:30102517 (GRCh37)
Canonical SPDI:: NC_000020.11:31514713:G:T
Gene:: HM13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.31514714G>T, NC_000020.10:g.30102517G>T, NG_051619.2:g.5305G>T, NM_030789.4:c.163G>T, NM_030789.3:c.163G>T, NM_030789.2:c.163G>T, NM_178582.3:c.163G>T, NM_178582.2:c.163G>T, NM_178582.1:c.163G>T, NM_178580.3:c.163G>T, NM_178580.2:c.163G>T, NM_178580.1:c.163G>T, NM_178581.3:c.163G>T, NM_178581.2:c.163G>T, NM_178581.1:c.163G>T, NP_110416.1:p.Val55Leu, NP_848697.1:p.Val55Leu, NP_848695.1:p.Val55Leu, NP_848696.1:p.Val55Leu

Select item 14901428622.

rs1490142862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31514630 (GRCh38)
20:30102433 (GRCh37)
Canonical SPDI:: NC_000020.11:31514629:T:C
Gene:: HM13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31514630T>C, NC_000020.10:g.30102433T>C, NG_051619.2:g.5221T>C, NM_030789.4:c.79T>C, NM_030789.3:c.79T>C, NM_030789.2:c.79T>C, NM_178582.3:c.79T>C, NM_178582.2:c.79T>C, NM_178582.1:c.79T>C, NM_178580.3:c.79T>C, NM_178580.2:c.79T>C, NM_178580.1:c.79T>C, NM_178581.3:c.79T>C, NM_178581.2:c.79T>C, NM_178581.1:c.79T>C, NP_110416.1:p.Ser27Pro, NP_848697.1:p.Ser27Pro, NP_848695.1:p.Ser27Pro, NP_848696.1:p.Ser27Pro

Select item 14899425433.

rs1489942543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:31549061 (GRCh38)
20:30136864 (GRCh37)
Canonical SPDI:: NC_000020.11:31549060:C:A
Gene:: HM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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)
A=0.000177/3 (TOMMO)
HGVS:: NC_000020.11:g.31549061C>A, NC_000020.10:g.30136864C>A, NG_051619.2:g.39652C>A, NM_030789.4:c.487C>A, NM_030789.3:c.487C>A, NM_030789.2:c.487C>A, NM_178580.3:c.487C>A, NM_178580.2:c.487C>A, NM_178580.1:c.487C>A, NM_178581.3:c.487C>A, NM_178581.2:c.487C>A, NM_178581.1:c.487C>A, NP_110416.1:p.Leu163Met, NP_848695.1:p.Leu163Met, NP_848696.1:p.Leu163Met

Select item 14897222874.

rs1489722287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31538196 (GRCh38)
20:30125999 (GRCh37)
Canonical SPDI:: NC_000020.11:31538195:C:T
Gene:: HM13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31538196C>T, NC_000020.10:g.30125999C>T, NG_051619.2:g.28787C>T, NM_030789.4:c.300C>T, NM_030789.3:c.300C>T, NM_030789.2:c.300C>T, NM_178582.3:c.300C>T, NM_178582.2:c.300C>T, NM_178582.1:c.300C>T, NM_178580.3:c.300C>T, NM_178580.2:c.300C>T, NM_178580.1:c.300C>T, NM_178581.3:c.300C>T, NM_178581.2:c.300C>T, NM_178581.1:c.300C>T

Select item 14871375525.

rs1487137552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31554788 (GRCh38)
20:30142591 (GRCh37)
Canonical SPDI:: NC_000020.11:31554787:A:G
Gene:: HM13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_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_000020.11:g.31554788A>G, NC_000020.10:g.30142591A>G, NG_051619.2:g.45379A>G, NM_030789.4:c.767A>G, NM_030789.3:c.767A>G, NM_030789.2:c.767A>G, NM_178580.3:c.767A>G, NM_178580.2:c.767A>G, NM_178580.1:c.767A>G, NM_178581.3:c.767A>G, NM_178581.2:c.767A>G, NM_178581.1:c.767A>G, NP_110416.1:p.Asn256Ser, NP_848695.1:p.Asn256Ser, NP_848696.1:p.Asn256Ser

Select item 14857260466.

rs1485726046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31527517 (GRCh38)
20:30115320 (GRCh37)
Canonical SPDI:: NC_000020.11:31527516:C:T
Gene:: HM13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.31527517C>T, NC_000020.10:g.30115320C>T, NG_051619.2:g.18108C>T, NM_030789.4:c.217C>T, NM_030789.3:c.217C>T, NM_030789.2:c.217C>T, NM_178582.3:c.217C>T, NM_178582.2:c.217C>T, NM_178582.1:c.217C>T, NM_178580.3:c.217C>T, NM_178580.2:c.217C>T, NM_178580.1:c.217C>T, NM_178581.3:c.217C>T, NM_178581.2:c.217C>T, NM_178581.1:c.217C>T, NP_110416.1:p.Arg73Trp, NP_848697.1:p.Arg73Trp, NP_848695.1:p.Arg73Trp, NP_848696.1:p.Arg73Trp

Select item 14818375727.

rs1481837572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31569153 (GRCh38)
20:30156956 (GRCh37)
Canonical SPDI:: NC_000020.11:31569152:A:G
Gene:: HM13 (Varview), HM13-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31569153A>G, NC_000020.10:g.30156956A>G, NG_051619.2:g.59744A>G, NM_030789.4:c.1068A>G, NM_030789.3:c.1068A>G, NM_030789.2:c.1068A>G, NM_178580.3:c.*86A>G, NM_178580.2:c.*86A>G, NM_178580.1:c.*86A>G, NM_178581.3:c.1215A>G, NM_178581.2:c.1215A>G, NM_178581.1:c.1215A>G

Select item 14776139838.

rs1477613983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:31514572 (GRCh38)
20:30102375 (GRCh37)
Canonical SPDI:: NC_000020.11:31514571:T:G
Gene:: HM13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31514572T>G, NC_000020.10:g.30102375T>G, NG_051619.2:g.5163T>G, NM_030789.4:c.21T>G, NM_030789.3:c.21T>G, NM_030789.2:c.21T>G, NM_178582.3:c.21T>G, NM_178582.2:c.21T>G, NM_178582.1:c.21T>G, NM_178580.3:c.21T>G, NM_178580.2:c.21T>G, NM_178580.1:c.21T>G, NM_178581.3:c.21T>G, NM_178581.2:c.21T>G, NM_178581.1:c.21T>G, NP_110416.1:p.Asp7Glu, NP_848697.1:p.Asp7Glu, NP_848695.1:p.Asp7Glu, NP_848696.1:p.Asp7Glu

Select item 14768962909.

rs1476896290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31568130 (GRCh38)
20:30155933 (GRCh37)
Canonical SPDI:: NC_000020.11:31568129:C:T
Gene:: HM13 (Varview), HM13-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31568130C>T, NC_000020.10:g.30155933C>T, NG_051619.2:g.58721C>T, NM_178580.3:c.1087C>T, NM_178580.2:c.1087C>T, NM_178580.1:c.1087C>T, NM_178581.3:c.1087C>T, NM_178581.2:c.1087C>T, NM_178581.1:c.1087C>T, NP_848695.1:p.Pro363Ser, NP_848696.1:p.Pro363Ser

Select item 147389761710.

rs1473897617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:31550100 (GRCh38)
20:30137903 (GRCh37)
Canonical SPDI:: NC_000020.11:31550099:T:G
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31550100T>G, NC_000020.10:g.30137903T>G, NG_051619.2:g.40691T>G, NM_030789.4:c.703T>G, NM_030789.3:c.703T>G, NM_030789.2:c.703T>G, NM_178580.3:c.703T>G, NM_178580.2:c.703T>G, NM_178580.1:c.703T>G, NM_178581.3:c.703T>G, NM_178581.2:c.703T>G, NM_178581.1:c.703T>G, NP_110416.1:p.Ser235Ala, NP_848695.1:p.Ser235Ala, NP_848696.1:p.Ser235Ala

Select item 147037264711.

rs1470372647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31514591 (GRCh38)
20:30102394 (GRCh37)
Canonical SPDI:: NC_000020.11:31514590:G:A
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31514591G>A, NC_000020.10:g.30102394G>A, NG_051619.2:g.5182G>A, NM_030789.4:c.40G>A, NM_030789.3:c.40G>A, NM_030789.2:c.40G>A, NM_178582.3:c.40G>A, NM_178582.2:c.40G>A, NM_178582.1:c.40G>A, NM_178580.3:c.40G>A, NM_178580.2:c.40G>A, NM_178580.1:c.40G>A, NM_178581.3:c.40G>A, NM_178581.2:c.40G>A, NM_178581.1:c.40G>A, NP_110416.1:p.Glu14Lys, NP_848697.1:p.Glu14Lys, NP_848695.1:p.Glu14Lys, NP_848696.1:p.Glu14Lys

Select item 146711411312.

rs1467114113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31561648 (GRCh38)
20:30149451 (GRCh37)
Canonical SPDI:: NC_000020.11:31561647:C:T
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31561648C>T, NC_000020.10:g.30149451C>T, NG_051619.2:g.52239C>T, NM_030789.4:c.860C>T, NM_030789.3:c.860C>T, NM_030789.2:c.860C>T, NM_178580.3:c.860C>T, NM_178580.2:c.860C>T, NM_178580.1:c.860C>T, NM_178581.3:c.860C>T, NM_178581.2:c.860C>T, NM_178581.1:c.860C>T, NP_110416.1:p.Thr287Ile, NP_848695.1:p.Thr287Ile, NP_848696.1:p.Thr287Ile

Select item 145918272613.

rs1459182726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31549073 (GRCh38)
20:30136876 (GRCh37)
Canonical SPDI:: NC_000020.11:31549072:G:A
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31549073G>A, NC_000020.10:g.30136876G>A, NG_051619.2:g.39664G>A, NM_030789.4:c.499G>A, NM_030789.3:c.499G>A, NM_030789.2:c.499G>A, NM_178580.3:c.499G>A, NM_178580.2:c.499G>A, NM_178580.1:c.499G>A, NM_178581.3:c.499G>A, NM_178581.2:c.499G>A, NM_178581.1:c.499G>A, NP_110416.1:p.Gly167Ser, NP_848695.1:p.Gly167Ser, NP_848696.1:p.Gly167Ser

Select item 145809418514.

rs1458094185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31514730 (GRCh38)
20:30102533 (GRCh37)
Canonical SPDI:: NC_000020.11:31514729:G:A
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.31514730G>A, NC_000020.10:g.30102533G>A, NG_051619.2:g.5321G>A, NM_030789.4:c.179G>A, NM_030789.3:c.179G>A, NM_030789.2:c.179G>A, NM_178582.3:c.179G>A, NM_178582.2:c.179G>A, NM_178582.1:c.179G>A, NM_178580.3:c.179G>A, NM_178580.2:c.179G>A, NM_178580.1:c.179G>A, NM_178581.3:c.179G>A, NM_178581.2:c.179G>A, NM_178581.1:c.179G>A, NP_110416.1:p.Gly60Asp, NP_848697.1:p.Gly60Asp, NP_848695.1:p.Gly60Asp, NP_848696.1:p.Gly60Asp

Select item 145800995715.

rs1458009957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:31550074 (GRCh38)
20:30137877 (GRCh37)
Canonical SPDI:: NC_000020.11:31550073:C:G
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31550074C>G, NC_000020.10:g.30137877C>G, NG_051619.2:g.40665C>G, NM_030789.4:c.677C>G, NM_030789.3:c.677C>G, NM_030789.2:c.677C>G, NM_178580.3:c.677C>G, NM_178580.2:c.677C>G, NM_178580.1:c.677C>G, NM_178581.3:c.677C>G, NM_178581.2:c.677C>G, NM_178581.1:c.677C>G, NP_110416.1:p.Thr226Ser, NP_848695.1:p.Thr226Ser, NP_848696.1:p.Thr226Ser

Select item 145791954016.

rs1457919540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:31549040 (GRCh38)
20:30136843 (GRCh37)
Canonical SPDI:: NC_000020.11:31549039:T:A,NC_000020.11:31549039:T:C
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000020.11:g.31549040T>A, NC_000020.11:g.31549040T>C, NC_000020.10:g.30136843T>A, NC_000020.10:g.30136843T>C, NG_051619.2:g.39631T>A, NG_051619.2:g.39631T>C, NM_030789.4:c.466T>A, NM_030789.4:c.466T>C, NM_030789.3:c.466T>A, NM_030789.3:c.466T>C, NM_030789.2:c.466T>A, NM_030789.2:c.466T>C, NM_178580.3:c.466T>A, NM_178580.3:c.466T>C, NM_178580.2:c.466T>A, NM_178580.2:c.466T>C, NM_178580.1:c.466T>A, NM_178580.1:c.466T>C, NM_178581.3:c.466T>A, NM_178581.3:c.466T>C, NM_178581.2:c.466T>A, NM_178581.2:c.466T>C, NM_178581.1:c.466T>A, NM_178581.1:c.466T>C, NP_110416.1:p.Tyr156Asn, NP_110416.1:p.Tyr156His, NP_848695.1:p.Tyr156Asn, NP_848695.1:p.Tyr156His, NP_848696.1:p.Tyr156Asn, NP_848696.1:p.Tyr156His

Select item 145709319117.

rs1457093191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31538215 (GRCh38)
20:30126018 (GRCh37)
Canonical SPDI:: NC_000020.11:31538214:A:G
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.31538215A>G, NC_000020.10:g.30126018A>G, NG_051619.2:g.28806A>G, NM_030789.4:c.319A>G, NM_030789.3:c.319A>G, NM_030789.2:c.319A>G, NM_178582.3:c.319A>G, NM_178582.2:c.319A>G, NM_178582.1:c.319A>G, NM_178580.3:c.319A>G, NM_178580.2:c.319A>G, NM_178580.1:c.319A>G, NM_178581.3:c.319A>G, NM_178581.2:c.319A>G, NM_178581.1:c.319A>G, NP_110416.1:p.Met107Val, NP_848697.1:p.Met107Val, NP_848695.1:p.Met107Val, NP_848696.1:p.Met107Val

Select item 145579936918.

rs1455799369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31514669 (GRCh38)
20:30102472 (GRCh37)
Canonical SPDI:: NC_000020.11:31514668:C:T
Gene:: HM13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31514669C>T, NC_000020.10:g.30102472C>T, NG_051619.2:g.5260C>T, NM_030789.4:c.118C>T, NM_030789.3:c.118C>T, NM_030789.2:c.118C>T, NM_178582.3:c.118C>T, NM_178582.2:c.118C>T, NM_178582.1:c.118C>T, NM_178580.3:c.118C>T, NM_178580.2:c.118C>T, NM_178580.1:c.118C>T, NM_178581.3:c.118C>T, NM_178581.2:c.118C>T, NM_178581.1:c.118C>T

Select item 145153299519.

rs1451532995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31568212 (GRCh38)
20:30156015 (GRCh37)
Canonical SPDI:: NC_000020.11:31568211:A:G
Gene:: HM13 (Varview), HM13-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.31568212A>G, NC_000020.10:g.30156015A>G, NG_051619.2:g.58803A>G, NM_178580.3:c.1169A>G, NM_178580.2:c.1169A>G, NM_178580.1:c.1169A>G, NM_178581.3:c.1169A>G, NM_178581.2:c.1169A>G, NM_178581.1:c.1169A>G, NP_848695.1:p.Asn390Ser, NP_848696.1:p.Asn390Ser

Select item 144320881120.

rs1443208811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:31549030 (GRCh38)
20:30136833 (GRCh37)
Canonical SPDI:: NC_000020.11:31549029:G:C
Gene:: HM13 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
C=0.001092/2 (Korea1K)
HGVS:: NC_000020.11:g.31549030G>C, NC_000020.10:g.30136833G>C, NG_051619.2:g.39621G>C, NM_030789.4:c.456G>C, NM_030789.3:c.456G>C, NM_030789.2:c.456G>C, NM_178580.3:c.456G>C, NM_178580.2:c.456G>C, NM_178580.1:c.456G>C, NM_178581.3:c.456G>C, NM_178581.2:c.456G>C, NM_178581.1:c.456G>C, NP_110416.1:p.Glu152Asp, NP_848695.1:p.Glu152Asp, NP_848696.1:p.Glu152Asp

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