SNP Links for Protein (Select 61563742) - SNP

Links from Protein

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Select item 14904627911.

rs1490462791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:88385536 (GRCh38)
4:89306688 (GRCh37)
Canonical SPDI:: NC_000004.12:88385535:G:C
Gene:: HERC6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.88385536G>C, NC_000004.11:g.89306688G>C, XM_005263083.5:c.433G>C, XM_005263083.4:c.433G>C, XM_005263083.3:c.433G>C, XM_005263083.2:c.433G>C, XM_005263083.1:c.433G>C, NM_017912.4:c.397G>C, NM_017912.3:c.397G>C, XM_011532053.4:c.433G>C, XM_011532053.3:c.433G>C, XM_011532053.2:c.433G>C, XM_011532053.1:c.433G>C, NM_001165136.2:c.397G>C, NM_001165136.1:c.397G>C, NM_001013002.1:c.397G>C, NM_001013005.1:c.397G>C, NM_001013000.1:c.397G>C, XM_047415867.1:c.433G>C, XP_005263140.1:p.Val145Leu, NP_060382.3:p.Val133Leu, XP_011530355.1:p.Val145Leu, NP_001158608.1:p.Val133Leu, XP_047271823.1:p.Val145Leu

Select item 14901217792.

rs1490121779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:88379011 (GRCh38)
4:89300163 (GRCh37)
Canonical SPDI:: NC_000004.12:88379010:C:G
Gene:: HERC6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88379011C>G, NC_000004.11:g.89300163C>G, XM_005263083.5:c.90C>G, XM_005263083.4:c.90C>G, XM_005263083.3:c.90C>G, XM_005263083.2:c.90C>G, XM_005263083.1:c.90C>G, NM_017912.4:c.90C>G, NM_017912.3:c.90C>G, XM_011532053.4:c.90C>G, XM_011532053.3:c.90C>G, XM_011532053.2:c.90C>G, XM_011532053.1:c.90C>G, NM_001165136.2:c.90C>G, NM_001165136.1:c.90C>G, NM_001013002.1:c.90C>G, NM_001013005.1:c.90C>G, NM_001013000.1:c.90C>G, XM_047415867.1:c.90C>G, XP_005263140.1:p.Ser30Arg, NP_060382.3:p.Ser30Arg, XP_011530355.1:p.Ser30Arg, NP_001158608.1:p.Ser30Arg, XP_047271823.1:p.Ser30Arg

Select item 14898097613.

rs1489809761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88428701 (GRCh38)
4:89349853 (GRCh37)
Canonical SPDI:: NC_000004.12:88428700:T:C
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88428701T>C, NC_000004.11:g.89349853T>C, XM_005263083.5:c.2093T>C, XM_005263083.4:c.2093T>C, XM_005263083.3:c.2093T>C, XM_005263083.2:c.2093T>C, XM_005263083.1:c.2093T>C, NM_017912.4:c.2057T>C, NM_017912.3:c.2057T>C, XM_011532053.4:c.1985T>C, XM_011532053.3:c.1985T>C, XM_011532053.2:c.1985T>C, XM_011532053.1:c.1985T>C, NM_001165136.2:c.1949T>C, NM_001165136.1:c.1949T>C, NM_001013002.1:c.1949T>C, NM_001013005.1:c.*766T>C, NM_001013000.1:c.*673T>C, XM_047415866.1:c.833T>C, XP_005263140.1:p.Leu698Pro, NP_060382.3:p.Leu686Pro, XP_011530355.1:p.Leu662Pro, NP_001158608.1:p.Leu650Pro, XP_047271822.1:p.Leu278Pro

Select item 14892493364.

rs1489249336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88442425 (GRCh38)
4:89363577 (GRCh37)
Canonical SPDI:: NC_000004.12:88442424:A:G
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.88442425A>G, NC_000004.11:g.89363577A>G, XM_005263083.5:c.3070A>G, XM_005263083.4:c.3070A>G, XM_005263083.3:c.3070A>G, XM_005263083.2:c.3070A>G, XM_005263083.1:c.3070A>G, NM_017912.4:c.3034A>G, NM_017912.3:c.3034A>G, XM_011532053.4:c.2962A>G, XM_011532053.3:c.2962A>G, XM_011532053.2:c.2962A>G, XM_011532053.1:c.2962A>G, NM_001165136.2:c.2926A>G, NM_001165136.1:c.2926A>G, NM_001013002.1:c.2926A>G, NM_001013005.1:c.*1743A>G, NM_001013000.1:c.*1650A>G, XM_047415866.1:c.1810A>G, XP_005263140.1:p.Arg1024Gly, NP_060382.3:p.Arg1012Gly, XP_011530355.1:p.Arg988Gly, NP_001158608.1:p.Arg976Gly, XP_047271822.1:p.Arg604Gly

Select item 14891610965.

rs1489161096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88431252 (GRCh38)
4:89352404 (GRCh37)
Canonical SPDI:: NC_000004.12:88431251:T:C
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.88431252T>C, NC_000004.11:g.89352404T>C, XM_005263083.5:c.2233T>C, XM_005263083.4:c.2233T>C, XM_005263083.3:c.2233T>C, XM_005263083.2:c.2233T>C, XM_005263083.1:c.2233T>C, NM_017912.4:c.2197T>C, NM_017912.3:c.2197T>C, XM_011532053.4:c.2125T>C, XM_011532053.3:c.2125T>C, XM_011532053.2:c.2125T>C, XM_011532053.1:c.2125T>C, NM_001165136.2:c.2089T>C, NM_001165136.1:c.2089T>C, NM_001013002.1:c.2089T>C, NM_001013005.1:c.*906T>C, NM_001013000.1:c.*813T>C, XM_047415866.1:c.973T>C, XP_005263140.1:p.Tyr745His, NP_060382.3:p.Tyr733His, XP_011530355.1:p.Tyr709His, NP_001158608.1:p.Tyr697His, XP_047271822.1:p.Tyr325His

Select item 14881825086.

rs1488182508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:88439918 (GRCh38)
4:89361070 (GRCh37)
Canonical SPDI:: NC_000004.12:88439917:C:T
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000004.12:g.88439918C>T, NC_000004.11:g.89361070C>T, XM_005263083.5:c.2636C>T, XM_005263083.4:c.2636C>T, XM_005263083.3:c.2636C>T, XM_005263083.2:c.2636C>T, XM_005263083.1:c.2636C>T, NM_017912.4:c.2600C>T, NM_017912.3:c.2600C>T, XM_011532053.4:c.2528C>T, XM_011532053.3:c.2528C>T, XM_011532053.2:c.2528C>T, XM_011532053.1:c.2528C>T, NM_001165136.2:c.2492C>T, NM_001165136.1:c.2492C>T, NM_001013002.1:c.2492C>T, NM_001013005.1:c.*1309C>T, NM_001013000.1:c.*1216C>T, XM_047415866.1:c.1376C>T, XP_005263140.1:p.Ser879Phe, NP_060382.3:p.Ser867Phe, XP_011530355.1:p.Ser843Phe, NP_001158608.1:p.Ser831Phe, XP_047271822.1:p.Ser459Phe

Select item 14872867737.

rs1487286773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:88413131 (GRCh38)
4:89334283 (GRCh37)
Canonical SPDI:: NC_000004.12:88413130:C:T
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.88413131C>T, NC_000004.11:g.89334283C>T, XM_005263083.5:c.1459C>T, XM_005263083.4:c.1459C>T, XM_005263083.3:c.1459C>T, XM_005263083.2:c.1459C>T, XM_005263083.1:c.1459C>T, NM_017912.4:c.1423C>T, NM_017912.3:c.1423C>T, XM_011532053.4:c.1459C>T, XM_011532053.3:c.1459C>T, XM_011532053.2:c.1459C>T, XM_011532053.1:c.1459C>T, NM_001165136.2:c.1423C>T, NM_001165136.1:c.1423C>T, NM_001013002.1:c.1423C>T, NM_001013005.1:c.*206C>T, NM_001013000.1:c.*195C>T, XM_047415866.1:c.199C>T, XM_047415867.1:c.1459C>T, XP_005263140.1:p.His487Tyr, NP_060382.3:p.His475Tyr, XP_011530355.1:p.His487Tyr, NP_001158608.1:p.His475Tyr, XP_047271822.1:p.His67Tyr, XP_047271823.1:p.His487Tyr

Select item 14869776648.

rs1486977664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88383231 (GRCh38)
4:89304383 (GRCh37)
Canonical SPDI:: NC_000004.12:88383230:G:A
Gene:: HERC6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88383231G>A, NC_000004.11:g.89304383G>A, XM_005263083.5:c.246G>A, XM_005263083.4:c.246G>A, XM_005263083.3:c.246G>A, XM_005263083.2:c.246G>A, XM_005263083.1:c.246G>A, NM_017912.4:c.210G>A, NM_017912.3:c.210G>A, XM_011532053.4:c.246G>A, XM_011532053.3:c.246G>A, XM_011532053.2:c.246G>A, XM_011532053.1:c.246G>A, NM_001165136.2:c.210G>A, NM_001165136.1:c.210G>A, NM_001013002.1:c.210G>A, NM_001013005.1:c.210G>A, NM_001013000.1:c.210G>A, XM_047415867.1:c.246G>A

Select item 14859325719.

rs1485932571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:88396129 (GRCh38)
4:89317281 (GRCh37)
Canonical SPDI:: NC_000004.12:88396128:A:C
Gene:: HERC6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88396129A>C, NC_000004.11:g.89317281A>C, XM_005263083.5:c.910A>C, XM_005263083.4:c.910A>C, XM_005263083.3:c.910A>C, XM_005263083.2:c.910A>C, XM_005263083.1:c.910A>C, NM_017912.4:c.874A>C, NM_017912.3:c.874A>C, XM_011532053.4:c.910A>C, XM_011532053.3:c.910A>C, XM_011532053.2:c.910A>C, XM_011532053.1:c.910A>C, NM_001165136.2:c.874A>C, NM_001165136.1:c.874A>C, NM_001013002.1:c.874A>C, NM_001013005.1:c.874A>C, NM_001013000.1:c.874A>C, XM_047415867.1:c.910A>C, XP_005263140.1:p.Ile304Leu, NP_060382.3:p.Ile292Leu, XP_011530355.1:p.Ile304Leu, NP_001158608.1:p.Ile292Leu, XP_047271823.1:p.Ile304Leu

Select item 148218794810.

rs1482187948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88404918 (GRCh38)
4:89326070 (GRCh37)
Canonical SPDI:: NC_000004.12:88404917:A:G
Gene:: HERC6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88404918A>G, NC_000004.11:g.89326070A>G, XM_005263083.5:c.1171A>G, XM_005263083.4:c.1171A>G, XM_005263083.3:c.1171A>G, XM_005263083.2:c.1171A>G, XM_005263083.1:c.1171A>G, NM_017912.4:c.1135A>G, NM_017912.3:c.1135A>G, XM_011532053.4:c.1171A>G, XM_011532053.3:c.1171A>G, XM_011532053.2:c.1171A>G, XM_011532053.1:c.1171A>G, NM_001165136.2:c.1135A>G, NM_001165136.1:c.1135A>G, NM_001013002.1:c.1135A>G, XM_047415867.1:c.1171A>G, XP_005263140.1:p.Ile391Val, NP_060382.3:p.Ile379Val, XP_011530355.1:p.Ile391Val, NP_001158608.1:p.Ile379Val, XP_047271823.1:p.Ile391Val

Select item 148189561311.

rs1481895613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:88431256 (GRCh38)
4:89352408 (GRCh37)
Canonical SPDI:: NC_000004.12:88431255:G:T
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.88431256G>T, NC_000004.11:g.89352408G>T, XM_005263083.5:c.2237G>T, XM_005263083.4:c.2237G>T, XM_005263083.3:c.2237G>T, XM_005263083.2:c.2237G>T, XM_005263083.1:c.2237G>T, NM_017912.4:c.2201G>T, NM_017912.3:c.2201G>T, XM_011532053.4:c.2129G>T, XM_011532053.3:c.2129G>T, XM_011532053.2:c.2129G>T, XM_011532053.1:c.2129G>T, NM_001165136.2:c.2093G>T, NM_001165136.1:c.2093G>T, NM_001013002.1:c.2093G>T, NM_001013005.1:c.*910G>T, NM_001013000.1:c.*817G>T, XM_047415866.1:c.977G>T, XP_005263140.1:p.Gly746Val, NP_060382.3:p.Gly734Val, XP_011530355.1:p.Gly710Val, NP_001158608.1:p.Gly698Val, XP_047271822.1:p.Gly326Val

Select item 148096797612.

rs1480967976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:88424671 (GRCh38)
4:89345823 (GRCh37)
Canonical SPDI:: NC_000004.12:88424670:T:G
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88424671T>G, NC_000004.11:g.89345823T>G, XM_005263083.5:c.1940T>G, XM_005263083.4:c.1940T>G, XM_005263083.3:c.1940T>G, XM_005263083.2:c.1940T>G, XM_005263083.1:c.1940T>G, NM_017912.4:c.1904T>G, NM_017912.3:c.1904T>G, NM_001013005.1:c.*531T>G, NM_001013000.1:c.*520T>G, XM_047415866.1:c.680T>G, XP_005263140.1:p.Leu647Ter, NP_060382.3:p.Leu635Ter, XP_047271822.1:p.Leu227Ter

Select item 148001185513.

rs1480011855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:88378963 (GRCh38)
4:89300115 (GRCh37)
Canonical SPDI:: NC_000004.12:88378962:C:A,NC_000004.12:88378962:C:T
Gene:: HERC6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88378963C>A, NC_000004.12:g.88378963C>T, NC_000004.11:g.89300115C>A, NC_000004.11:g.89300115C>T, XM_005263083.5:c.42C>A, XM_005263083.5:c.42C>T, XM_005263083.4:c.42C>A, XM_005263083.4:c.42C>T, XM_005263083.3:c.42C>A, XM_005263083.3:c.42C>T, XM_005263083.2:c.42C>A, XM_005263083.2:c.42C>T, XM_005263083.1:c.42C>A, XM_005263083.1:c.42C>T, NM_017912.4:c.42C>A, NM_017912.4:c.42C>T, NM_017912.3:c.42C>A, NM_017912.3:c.42C>T, XM_011532053.4:c.42C>A, XM_011532053.4:c.42C>T, XM_011532053.3:c.42C>A, XM_011532053.3:c.42C>T, XM_011532053.2:c.42C>A, XM_011532053.2:c.42C>T, XM_011532053.1:c.42C>A, XM_011532053.1:c.42C>T, NM_001165136.2:c.42C>A, NM_001165136.2:c.42C>T, NM_001165136.1:c.42C>A, NM_001165136.1:c.42C>T, NM_001013002.1:c.42C>A, NM_001013002.1:c.42C>T, NM_001013005.1:c.42C>A, NM_001013005.1:c.42C>T, NM_001013000.1:c.42C>A, NM_001013000.1:c.42C>T, XM_047415867.1:c.42C>A, XM_047415867.1:c.42C>T

Select item 147994464514.

rs1479944645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:88442367 (GRCh38)
4:89363519 (GRCh37)
Canonical SPDI:: NC_000004.12:88442366:T:G
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000116/3 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.88442367T>G, NC_000004.11:g.89363519T>G, XM_005263083.5:c.3012T>G, XM_005263083.4:c.3012T>G, XM_005263083.3:c.3012T>G, XM_005263083.2:c.3012T>G, XM_005263083.1:c.3012T>G, NM_017912.4:c.2976T>G, NM_017912.3:c.2976T>G, XM_011532053.4:c.2904T>G, XM_011532053.3:c.2904T>G, XM_011532053.2:c.2904T>G, XM_011532053.1:c.2904T>G, NM_001165136.2:c.2868T>G, NM_001165136.1:c.2868T>G, NM_001013002.1:c.2868T>G, NM_001013005.1:c.*1685T>G, NM_001013000.1:c.*1592T>G, XM_047415866.1:c.1752T>G

Select item 147873728015.

rs1478737280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:88442248 (GRCh38)
4:89363400 (GRCh37)
Canonical SPDI:: NC_000004.12:88442247:C:T
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.88442248C>T, NC_000004.11:g.89363400C>T, XM_005263083.5:c.2893C>T, XM_005263083.4:c.2893C>T, XM_005263083.3:c.2893C>T, XM_005263083.2:c.2893C>T, XM_005263083.1:c.2893C>T, NM_017912.4:c.2857C>T, NM_017912.3:c.2857C>T, XM_011532053.4:c.2785C>T, XM_011532053.3:c.2785C>T, XM_011532053.2:c.2785C>T, XM_011532053.1:c.2785C>T, NM_001165136.2:c.2749C>T, NM_001165136.1:c.2749C>T, NM_001013002.1:c.2749C>T, NM_001013005.1:c.*1566C>T, NM_001013000.1:c.*1473C>T, XM_047415866.1:c.1633C>T, XP_005263140.1:p.Arg965Cys, NP_060382.3:p.Arg953Cys, XP_011530355.1:p.Arg929Cys, NP_001158608.1:p.Arg917Cys, XP_047271822.1:p.Arg545Cys

Select item 147744307716.

rs1477443077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88396078 (GRCh38)
4:89317230 (GRCh37)
Canonical SPDI:: NC_000004.12:88396077:G:A
Gene:: HERC6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88396078G>A, NC_000004.11:g.89317230G>A, XM_005263083.5:c.859G>A, XM_005263083.4:c.859G>A, XM_005263083.3:c.859G>A, XM_005263083.2:c.859G>A, XM_005263083.1:c.859G>A, NM_017912.4:c.823G>A, NM_017912.3:c.823G>A, XM_011532053.4:c.859G>A, XM_011532053.3:c.859G>A, XM_011532053.2:c.859G>A, XM_011532053.1:c.859G>A, NM_001165136.2:c.823G>A, NM_001165136.1:c.823G>A, NM_001013002.1:c.823G>A, NM_001013005.1:c.823G>A, NM_001013000.1:c.823G>A, XM_047415867.1:c.859G>A, XP_005263140.1:p.Glu287Lys, NP_060382.3:p.Glu275Lys, XP_011530355.1:p.Glu287Lys, NP_001158608.1:p.Glu275Lys, XP_047271823.1:p.Glu287Lys

Select item 147737260617.

rs1477372606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88385546 (GRCh38)
4:89306698 (GRCh37)
Canonical SPDI:: NC_000004.12:88385545:G:A
Gene:: HERC6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88385546G>A, NC_000004.11:g.89306698G>A, XM_005263083.5:c.443G>A, XM_005263083.4:c.443G>A, XM_005263083.3:c.443G>A, XM_005263083.2:c.443G>A, XM_005263083.1:c.443G>A, NM_017912.4:c.407G>A, NM_017912.3:c.407G>A, XM_011532053.4:c.443G>A, XM_011532053.3:c.443G>A, XM_011532053.2:c.443G>A, XM_011532053.1:c.443G>A, NM_001165136.2:c.407G>A, NM_001165136.1:c.407G>A, NM_001013002.1:c.407G>A, NM_001013005.1:c.407G>A, NM_001013000.1:c.407G>A, XM_047415867.1:c.443G>A, XP_005263140.1:p.Gly148Glu, NP_060382.3:p.Gly136Glu, XP_011530355.1:p.Gly148Glu, NP_001158608.1:p.Gly136Glu, XP_047271823.1:p.Gly148Glu

Select item 147444294318.

rs1474442943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:88435803 (GRCh38)
4:89356955 (GRCh37)
Canonical SPDI:: NC_000004.12:88435802:C:G
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88435803C>G, NC_000004.11:g.89356955C>G, XM_005263083.5:c.2365C>G, XM_005263083.4:c.2365C>G, XM_005263083.3:c.2365C>G, XM_005263083.2:c.2365C>G, XM_005263083.1:c.2365C>G, NM_017912.4:c.2329C>G, NM_017912.3:c.2329C>G, XM_011532053.4:c.2257C>G, XM_011532053.3:c.2257C>G, XM_011532053.2:c.2257C>G, XM_011532053.1:c.2257C>G, NM_001165136.2:c.2221C>G, NM_001165136.1:c.2221C>G, NM_001013002.1:c.2221C>G, NM_001013005.1:c.*1038C>G, NM_001013000.1:c.*945C>G, XM_047415866.1:c.1105C>G, XP_005263140.1:p.Leu789Val, NP_060382.3:p.Leu777Val, XP_011530355.1:p.Leu753Val, NP_001158608.1:p.Leu741Val, XP_047271822.1:p.Leu369Val

Select item 147413869019.

rs1474138690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88378970 (GRCh38)
4:89300122 (GRCh37)
Canonical SPDI:: NC_000004.12:88378969:A:G
Gene:: HERC6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88378970A>G, NC_000004.11:g.89300122A>G, XM_005263083.5:c.49A>G, XM_005263083.4:c.49A>G, XM_005263083.3:c.49A>G, XM_005263083.2:c.49A>G, XM_005263083.1:c.49A>G, NM_017912.4:c.49A>G, NM_017912.3:c.49A>G, XM_011532053.4:c.49A>G, XM_011532053.3:c.49A>G, XM_011532053.2:c.49A>G, XM_011532053.1:c.49A>G, NM_001165136.2:c.49A>G, NM_001165136.1:c.49A>G, NM_001013002.1:c.49A>G, NM_001013005.1:c.49A>G, NM_001013000.1:c.49A>G, XM_047415867.1:c.49A>G, XP_005263140.1:p.Thr17Ala, NP_060382.3:p.Thr17Ala, XP_011530355.1:p.Thr17Ala, NP_001158608.1:p.Thr17Ala, XP_047271823.1:p.Thr17Ala

Select item 147389293920.

rs1473892939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:88424675 (GRCh38)
4:89345827 (GRCh37)
Canonical SPDI:: NC_000004.12:88424674:G:A,NC_000004.12:88424674:G:T
Gene:: HERC6 (Varview), LOC102723458 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88424675G>A, NC_000004.12:g.88424675G>T, NC_000004.11:g.89345827G>A, NC_000004.11:g.89345827G>T, XM_005263083.5:c.1944G>A, XM_005263083.5:c.1944G>T, XM_005263083.4:c.1944G>A, XM_005263083.4:c.1944G>T, XM_005263083.3:c.1944G>A, XM_005263083.3:c.1944G>T, XM_005263083.2:c.1944G>A, XM_005263083.2:c.1944G>T, XM_005263083.1:c.1944G>A, XM_005263083.1:c.1944G>T, NM_017912.4:c.1908G>A, NM_017912.4:c.1908G>T, NM_017912.3:c.1908G>A, NM_017912.3:c.1908G>T, NM_001013005.1:c.*535G>A, NM_001013005.1:c.*535G>T, NM_001013000.1:c.*524G>A, NM_001013000.1:c.*524G>T, XM_047415866.1:c.684G>A, XM_047415866.1:c.684G>T, XP_005263140.1:p.Leu648Phe, NP_060382.3:p.Leu636Phe, XP_047271822.1:p.Leu228Phe

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