SNP Links for Protein (Select 24475863) - SNP

Links from Protein

Items: 1 to 20 of 399

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Select item 14881745201.

rs1488174520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129547401 (GRCh38)
3:129266244 (GRCh37)
Canonical SPDI:: NC_000003.12:129547400:C:T
Gene:: H1-8 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_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_000003.12:g.129547401C>T, NC_000003.11:g.129266244C>T, NM_153833.3:c.99C>T, NM_153833.2:c.99C>T, NM_153833.1:c.99C>T

Select item 14856820502.

rs1485682050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129547438 (GRCh38)
3:129266281 (GRCh37)
Canonical SPDI:: NC_000003.12:129547437:C:T
Gene:: H1-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_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_000003.12:g.129547438C>T, NC_000003.11:g.129266281C>T, NM_153833.3:c.136C>T, NM_153833.2:c.136C>T, NM_153833.1:c.136C>T, NP_722575.1:p.Leu46Phe

Select item 14819365053.

rs1481936505 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:129549142 (GRCh38)
3:129267985 (GRCh37)
Canonical SPDI:: NC_000003.12:129549141:AAAAA:AAAA
Gene:: H1-8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000003.12:g.129549146del, NC_000003.11:g.129267989del, NM_153833.3:c.524del, NM_153833.2:c.524del, NM_153833.1:c.524del, NM_001308262.2:c.107del, NM_001308262.1:c.107del, XM_017005733.2:c.107del, XM_017005733.1:c.107del, NP_722575.1:p.Lys175fs, NP_001295191.1:p.Lys36fs, XP_016861222.1:p.Lys36fs

Select item 14759565004.

rs1475956500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:129547602 (GRCh38)
3:129266445 (GRCh37)
Canonical SPDI:: NC_000003.12:129547601:G:A,NC_000003.12:129547601:G:T
Gene:: H1-8 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.129547602G>A, NC_000003.12:g.129547602G>T, NC_000003.11:g.129266445G>A, NC_000003.11:g.129266445G>T, NM_153833.3:c.300G>A, NM_153833.3:c.300G>T, NM_153833.2:c.300G>A, NM_153833.2:c.300G>T, NM_153833.1:c.300G>A, NM_153833.1:c.300G>T

Select item 14758930545.

rs1475893054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:129547405 (GRCh38)
3:129266248 (GRCh37)
Canonical SPDI:: NC_000003.12:129547404:G:A,NC_000003.12:129547404:G:T
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
A=0.000036/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129547405G>A, NC_000003.12:g.129547405G>T, NC_000003.11:g.129266248G>A, NC_000003.11:g.129266248G>T, NM_153833.3:c.103G>A, NM_153833.3:c.103G>T, NM_153833.2:c.103G>A, NM_153833.2:c.103G>T, NM_153833.1:c.103G>A, NM_153833.1:c.103G>T, NP_722575.1:p.Gly35Ser, NP_722575.1:p.Gly35Cys

Select item 14743189686.

rs1474318968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:129549156 (GRCh38)
3:129267999 (GRCh37)
Canonical SPDI:: NC_000003.12:129549155:G:C
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129549156G>C, NC_000003.11:g.129267999G>C, NM_153833.3:c.534G>C, NM_153833.2:c.534G>C, NM_153833.1:c.534G>C, NM_001308262.2:c.117G>C, NM_001308262.1:c.117G>C, XM_017005733.2:c.117G>C, XM_017005733.1:c.117G>C, NP_722575.1:p.Lys178Asn, NP_001295191.1:p.Lys39Asn, XP_016861222.1:p.Lys39Asn

Select item 14736613387.

rs1473661338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129551179 (GRCh38)
3:129270022 (GRCh37)
Canonical SPDI:: NC_000003.12:129551178:G:A
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129551179G>A, NC_000003.11:g.129270022G>A, NM_153833.3:c.880G>A, NM_153833.2:c.880G>A, NM_153833.1:c.880G>A, NM_001308262.2:c.463G>A, NM_001308262.1:c.463G>A, XM_017005733.2:c.463G>A, XM_017005733.1:c.463G>A, NP_722575.1:p.Gly294Arg, NP_001295191.1:p.Gly155Arg, XP_016861222.1:p.Gly155Arg

Select item 14711247928.

rs1471124792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129547625 (GRCh38)
3:129266468 (GRCh37)
Canonical SPDI:: NC_000003.12:129547624:G:T
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.129547625G>T, NC_000003.11:g.129266468G>T, NM_153833.3:c.323G>T, NM_153833.2:c.323G>T, NM_153833.1:c.323G>T, NP_722575.1:p.Gly108Val

Select item 14703916879.

rs1470391687 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTACCCAACA>- [Show Flanks]
Chromosome:: 3:129547553 (GRCh38)
3:129266396 (GRCh37)
Canonical SPDI:: NC_000003.12:129547549:ACAAGTACCCAACA:ACA
Gene:: H1-8 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129547553_129547563del, NC_000003.11:g.129266396_129266406del, NM_153833.3:c.251_261del, NM_153833.2:c.251_261del, NM_153833.1:c.251_261del, NP_722575.1:p.Lys84fs

Select item 147003648310.

rs1470036483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129547518 (GRCh38)
3:129266361 (GRCh37)
Canonical SPDI:: NC_000003.12:129547517:G:A
Gene:: H1-8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129547518G>A, NC_000003.11:g.129266361G>A, NM_153833.3:c.216G>A, NM_153833.2:c.216G>A, NM_153833.1:c.216G>A

Select item 146943041511.

rs1469430415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129549308 (GRCh38)
3:129268151 (GRCh37)
Canonical SPDI:: NC_000003.12:129549307:C:T
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.129549308C>T, NC_000003.11:g.129268151C>T, NM_153833.3:c.686C>T, NM_153833.2:c.686C>T, NM_153833.1:c.686C>T, NM_001308262.2:c.269C>T, NM_001308262.1:c.269C>T, XM_017005733.2:c.269C>T, XM_017005733.1:c.269C>T, NP_722575.1:p.Ser229Phe, NP_001295191.1:p.Ser90Phe, XP_016861222.1:p.Ser90Phe

Select item 146869043712.

rs1468690437 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGACGCCGCCACCCCCCGGTG>- [Show Flanks]
Chromosome:: 3:129547447 (GRCh38)
3:129266290 (GRCh37)
Canonical SPDI:: NC_000003.12:129547439:CCCGGTGGGACGCCGCCACCCCCCGGTG:CCCGGTG
Gene:: H1-8 (Varview)
Functional Consequence:: inframe_deletion,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCGGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.129547447_129547467del, NC_000003.11:g.129266290_129266310del, NM_153833.3:c.145_165del, NM_153833.2:c.145_165del, NM_153833.1:c.145_165del, NP_722575.1:p.Gly49_Val55del

Select item 146852952913.

rs1468529529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:129551132 (GRCh38)
3:129269975 (GRCh37)
Canonical SPDI:: NC_000003.12:129551131:C:G
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.129551132C>G, NC_000003.11:g.129269975C>G, NM_153833.3:c.833C>G, NM_153833.2:c.833C>G, NM_153833.1:c.833C>G, NM_001308262.2:c.416C>G, NM_001308262.1:c.416C>G, XM_017005733.2:c.416C>G, XM_017005733.1:c.416C>G, NP_722575.1:p.Thr278Ser, NP_001295191.1:p.Thr139Ser, XP_016861222.1:p.Thr139Ser

Select item 146608311014.

rs1466083110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:129543290 (GRCh38)
3:129262133 (GRCh37)
Canonical SPDI:: NC_000003.12:129543289:T:A
Gene:: H1-8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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)
HGVS:: NC_000003.12:g.129543290T>A, NC_000003.11:g.129262133T>A, NM_153833.3:c.72T>A, NM_153833.2:c.72T>A, NM_153833.1:c.72T>A

Select item 146111364615.

rs1461113646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129551146 (GRCh38)
3:129269989 (GRCh37)
Canonical SPDI:: NC_000003.12:129551145:G:T
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129551146G>T, NC_000003.11:g.129269989G>T, NM_153833.3:c.847G>T, NM_153833.2:c.847G>T, NM_153833.1:c.847G>T, NM_001308262.2:c.430G>T, NM_001308262.1:c.430G>T, XM_017005733.2:c.430G>T, XM_017005733.1:c.430G>T, NP_722575.1:p.Val283Leu, NP_001295191.1:p.Val144Leu, XP_016861222.1:p.Val144Leu

Select item 146011286416.

rs1460112864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:129549071 (GRCh38)
3:129267914 (GRCh37)
Canonical SPDI:: NC_000003.12:129549070:G:C
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129549071G>C, NC_000003.11:g.129267914G>C, NM_153833.3:c.449G>C, NM_153833.2:c.449G>C, NM_153833.1:c.449G>C, NM_001308262.2:c.32G>C, NM_001308262.1:c.32G>C, XM_017005733.2:c.32G>C, XM_017005733.1:c.32G>C, NP_722575.1:p.Gly150Ala, NP_001295191.1:p.Gly11Ala, XP_016861222.1:p.Gly11Ala

Select item 145992485017.

rs1459924850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:129551188 (GRCh38)
3:129270031 (GRCh37)
Canonical SPDI:: NC_000003.12:129551187:A:C
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129551188A>C, NC_000003.11:g.129270031A>C, NM_153833.3:c.889A>C, NM_153833.2:c.889A>C, NM_153833.1:c.889A>C, NM_001308262.2:c.472A>C, NM_001308262.1:c.472A>C, XM_017005733.2:c.472A>C, XM_017005733.1:c.472A>C, NP_722575.1:p.Thr297Pro, NP_001295191.1:p.Thr158Pro, XP_016861222.1:p.Thr158Pro

Select item 145548870218.

rs1455488702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129549030 (GRCh38)
3:129267873 (GRCh37)
Canonical SPDI:: NC_000003.12:129549029:G:A
Gene:: H1-8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129549030G>A, NC_000003.11:g.129267873G>A, NM_153833.3:c.408G>A, NM_153833.2:c.408G>A, NM_153833.1:c.408G>A, NM_001308262.2:c.-10G>A, NM_001308262.1:c.-10G>A, XM_017005733.2:c.-10G>A, XM_017005733.1:c.-10G>A

Select item 145504856119.

rs1455048561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129549059 (GRCh38)
3:129267902 (GRCh37)
Canonical SPDI:: NC_000003.12:129549058:C:T
Gene:: H1-8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.129549059C>T, NC_000003.11:g.129267902C>T, NM_153833.3:c.437C>T, NM_153833.2:c.437C>T, NM_153833.1:c.437C>T, NM_001308262.2:c.20C>T, NM_001308262.1:c.20C>T, XM_017005733.2:c.20C>T, XM_017005733.1:c.20C>T, NP_722575.1:p.Pro146Leu, NP_001295191.1:p.Pro7Leu, XP_016861222.1:p.Pro7Leu

Select item 145128785720.

rs1451287857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:129551304 (GRCh38)
3:129270147 (GRCh37)
Canonical SPDI:: NC_000003.12:129551303:A:T
Gene:: H1-8 (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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129551304A>T, NC_000003.11:g.129270147A>T, NM_153833.3:c.1005A>T, NM_153833.2:c.1005A>T, NM_153833.1:c.1005A>T, NM_001308262.2:c.588A>T, NM_001308262.1:c.588A>T, XM_017005733.2:c.588A>T, XM_017005733.1:c.588A>T

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