SNP Links for Protein (Select 20336190) - SNP

Links from Protein

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Select item 14880818371.

rs1488081837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:101370423 (GRCh38)
15:101910628 (GRCh37)
Canonical SPDI:: NC_000015.10:101370422:G:A
Gene:: PCSK6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.101370423G>A, NC_000015.9:g.101910628G>A, NG_030047.4:g.159780C>T, NM_002570.5:c.1633C>T, NM_002570.4:c.1633C>T, NM_002570.3:c.1633C>T, NM_138319.4:c.1633C>T, NM_138319.3:c.1633C>T, NM_138319.2:c.1633C>T, NM_138325.4:c.1633C>T, NM_138325.3:c.1633C>T, NM_138325.2:c.1633C>T, NM_138324.3:c.1633C>T, NM_138324.2:c.1633C>T, NM_138324.1:c.1633C>T, NM_138323.3:c.1633C>T, NM_138323.2:c.1633C>T, NM_138323.1:c.1633C>T, NM_001291309.2:c.1411C>T, NM_001291309.1:c.1411C>T, NM_138320.1:c.1633C>T, NM_138321.1:c.1633C>T, NP_002561.1:p.Arg545Cys, NP_612192.1:p.Arg545Cys, NP_612198.2:p.Arg545Cys, NP_612197.1:p.Arg545Cys, NP_612196.1:p.Arg545Cys, NP_001278238.1:p.Arg471Cys

Select item 14879690242.

rs1487969024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:101370477 (GRCh38)
15:101910682 (GRCh37)
Canonical SPDI:: NC_000015.10:101370476:C:A,NC_000015.10:101370476:C:T
Gene:: PCSK6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101370477C>A, NC_000015.10:g.101370477C>T, NC_000015.9:g.101910682C>A, NC_000015.9:g.101910682C>T, NG_030047.4:g.159726G>T, NG_030047.4:g.159726G>A, NM_002570.5:c.1579G>T, NM_002570.5:c.1579G>A, NM_002570.4:c.1579G>T, NM_002570.4:c.1579G>A, NM_002570.3:c.1579G>T, NM_002570.3:c.1579G>A, NM_138319.4:c.1579G>T, NM_138319.4:c.1579G>A, NM_138319.3:c.1579G>T, NM_138319.3:c.1579G>A, NM_138319.2:c.1579G>T, NM_138319.2:c.1579G>A, NM_138325.4:c.1579G>T, NM_138325.4:c.1579G>A, NM_138325.3:c.1579G>T, NM_138325.3:c.1579G>A, NM_138325.2:c.1579G>T, NM_138325.2:c.1579G>A, NM_138324.3:c.1579G>T, NM_138324.3:c.1579G>A, NM_138324.2:c.1579G>T, NM_138324.2:c.1579G>A, NM_138324.1:c.1579G>T, NM_138324.1:c.1579G>A, NM_138323.3:c.1579G>T, NM_138323.3:c.1579G>A, NM_138323.2:c.1579G>T, NM_138323.2:c.1579G>A, NM_138323.1:c.1579G>T, NM_138323.1:c.1579G>A, NM_001291309.2:c.1357G>T, NM_001291309.2:c.1357G>A, NM_001291309.1:c.1357G>T, NM_001291309.1:c.1357G>A, NM_138320.1:c.1579G>T, NM_138320.1:c.1579G>A, NM_138321.1:c.1579G>T, NM_138321.1:c.1579G>A, NP_002561.1:p.Ala527Ser, NP_002561.1:p.Ala527Thr, NP_612192.1:p.Ala527Ser, NP_612192.1:p.Ala527Thr, NP_612198.2:p.Ala527Ser, NP_612198.2:p.Ala527Thr, NP_612197.1:p.Ala527Ser, NP_612197.1:p.Ala527Thr, NP_612196.1:p.Ala527Ser, NP_612196.1:p.Ala527Thr, NP_001278238.1:p.Ala453Ser, NP_001278238.1:p.Ala453Thr

Select item 14866243503.

rs1486624350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:101366238 (GRCh38)
15:101906443 (GRCh37)
Canonical SPDI:: NC_000015.10:101366237:T:A
Gene:: PCSK6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101366238T>A, NC_000015.9:g.101906443T>A, NG_030047.4:g.163965A>T, NM_002570.5:c.1816A>T, NM_002570.4:c.1816A>T, NM_002570.3:c.1816A>T, NM_138319.4:c.1816A>T, NM_138319.3:c.1816A>T, NM_138319.2:c.1816A>T, NM_138325.4:c.1816A>T, NM_138325.3:c.1816A>T, NM_138325.2:c.1816A>T, NM_138324.3:c.1816A>T, NM_138324.2:c.1816A>T, NM_138324.1:c.1816A>T, NM_138323.3:c.1816A>T, NM_138323.2:c.1816A>T, NM_138323.1:c.1816A>T, NM_001291309.2:c.1594A>T, NM_001291309.1:c.1594A>T, NM_138320.1:c.1816A>T, NM_138321.1:c.1816A>T, NP_002561.1:p.Ile606Phe, NP_612192.1:p.Ile606Phe, NP_612198.2:p.Ile606Phe, NP_612197.1:p.Ile606Phe, NP_612196.1:p.Ile606Phe, NP_001278238.1:p.Ile532Phe

Select item 14864417604.

rs1486441760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:101382114 (GRCh38)
15:101922319 (GRCh37)
Canonical SPDI:: NC_000015.10:101382113:C:T
Gene:: PCSK6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.101382114C>T, NC_000015.9:g.101922319C>T, NG_030047.4:g.148089G>A, NM_002570.5:c.1510G>A, NM_002570.4:c.1510G>A, NM_002570.3:c.1510G>A, NM_138319.4:c.1510G>A, NM_138319.3:c.1510G>A, NM_138319.2:c.1510G>A, NM_138325.4:c.1510G>A, NM_138325.3:c.1510G>A, NM_138325.2:c.1510G>A, NM_138324.3:c.1510G>A, NM_138324.2:c.1510G>A, NM_138324.1:c.1510G>A, NM_138323.3:c.1510G>A, NM_138323.2:c.1510G>A, NM_138323.1:c.1510G>A, NM_138320.1:c.1510G>A, NM_138321.1:c.1510G>A, NP_002561.1:p.Ala504Thr, NP_612192.1:p.Ala504Thr, NP_612198.2:p.Ala504Thr, NP_612197.1:p.Ala504Thr, NP_612196.1:p.Ala504Thr

Select item 14863458705.

rs1486345870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:101370483 (GRCh38)
15:101910688 (GRCh37)
Canonical SPDI:: NC_000015.10:101370482:T:C
Gene:: PCSK6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101370483T>C, NC_000015.9:g.101910688T>C, NG_030047.4:g.159720A>G, NM_002570.5:c.1573A>G, NM_002570.4:c.1573A>G, NM_002570.3:c.1573A>G, NM_138319.4:c.1573A>G, NM_138319.3:c.1573A>G, NM_138319.2:c.1573A>G, NM_138325.4:c.1573A>G, NM_138325.3:c.1573A>G, NM_138325.2:c.1573A>G, NM_138324.3:c.1573A>G, NM_138324.2:c.1573A>G, NM_138324.1:c.1573A>G, NM_138323.3:c.1573A>G, NM_138323.2:c.1573A>G, NM_138323.1:c.1573A>G, NM_001291309.2:c.1351A>G, NM_001291309.1:c.1351A>G, NM_138320.1:c.1573A>G, NM_138321.1:c.1573A>G, NP_002561.1:p.Thr525Ala, NP_612192.1:p.Thr525Ala, NP_612198.2:p.Thr525Ala, NP_612197.1:p.Thr525Ala, NP_612196.1:p.Thr525Ala, NP_001278238.1:p.Thr451Ala

Select item 14857125896.

rs1485712589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:101489624 (GRCh38)
15:102029827 (GRCh37)
Canonical SPDI:: NC_000015.10:101489623:C:G,NC_000015.10:101489623:C:T
Gene:: PCSK6 (Varview), LOC107987228 (Varview), LOC124903566 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/3 (GnomAD)
HGVS:: NC_000015.10:g.101489624C>G, NC_000015.10:g.101489624C>T, NC_000015.9:g.102029827C>G, NC_000015.9:g.102029827C>T, NG_030047.4:g.40579G>C, NG_030047.4:g.40579G>A, NM_002570.5:c.47G>C, NM_002570.5:c.47G>A, NM_002570.4:c.47G>C, NM_002570.4:c.47G>A, NM_002570.3:c.47G>C, NM_002570.3:c.47G>A, NM_138319.4:c.47G>C, NM_138319.4:c.47G>A, NM_138319.3:c.47G>C, NM_138319.3:c.47G>A, NM_138319.2:c.47G>C, NM_138319.2:c.47G>A, NM_138325.4:c.47G>C, NM_138325.4:c.47G>A, NM_138325.3:c.47G>C, NM_138325.3:c.47G>A, NM_138325.2:c.47G>C, NM_138325.2:c.47G>A, NM_138322.4:c.47G>C, NM_138322.4:c.47G>A, NM_138322.3:c.47G>C, NM_138322.3:c.47G>A, NM_138322.2:c.47G>C, NM_138322.2:c.47G>A, NM_138324.3:c.47G>C, NM_138324.3:c.47G>A, NM_138324.2:c.47G>C, NM_138324.2:c.47G>A, NM_138324.1:c.47G>C, NM_138324.1:c.47G>A, NM_138323.3:c.47G>C, NM_138323.3:c.47G>A, NM_138323.2:c.47G>C, NM_138323.2:c.47G>A, NM_138323.1:c.47G>C, NM_138323.1:c.47G>A, NM_001291309.2:c.47G>C, NM_001291309.2:c.47G>A, NM_001291309.1:c.47G>C, NM_001291309.1:c.47G>A, NM_138320.1:c.47G>C, NM_138320.1:c.47G>A, NM_138321.1:c.47G>C, NM_138321.1:c.47G>A, NP_002561.1:p.Arg16Pro, NP_002561.1:p.Arg16Gln, NP_612192.1:p.Arg16Pro, NP_612192.1:p.Arg16Gln, NP_612198.2:p.Arg16Pro, NP_612198.2:p.Arg16Gln, NP_612195.1:p.Arg16Pro, NP_612195.1:p.Arg16Gln, NP_612197.1:p.Arg16Pro, NP_612197.1:p.Arg16Gln, NP_612196.1:p.Arg16Pro, NP_612196.1:p.Arg16Gln, NP_001278238.1:p.Arg16Pro, NP_001278238.1:p.Arg16Gln

Select item 14827033337.

rs1482703333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:101489529 (GRCh38)
15:102029732 (GRCh37)
Canonical SPDI:: NC_000015.10:101489528:G:A
Gene:: PCSK6 (Varview), LOC107987228 (Varview), LOC124903566 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000045/6 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000015.10:g.101489529G>A, NC_000015.9:g.102029732G>A, NG_030047.4:g.40674C>T, NM_002570.5:c.142C>T, NM_002570.4:c.142C>T, NM_002570.3:c.142C>T, NM_138319.4:c.142C>T, NM_138319.3:c.142C>T, NM_138319.2:c.142C>T, NM_138325.4:c.142C>T, NM_138325.3:c.142C>T, NM_138325.2:c.142C>T, NM_138322.4:c.142C>T, NM_138322.3:c.142C>T, NM_138322.2:c.142C>T, NM_138324.3:c.142C>T, NM_138324.2:c.142C>T, NM_138324.1:c.142C>T, NM_138323.3:c.142C>T, NM_138323.2:c.142C>T, NM_138323.1:c.142C>T, NM_001291309.2:c.142C>T, NM_001291309.1:c.142C>T, NM_138320.1:c.142C>T, NM_138321.1:c.142C>T, NP_002561.1:p.Pro48Ser, NP_612192.1:p.Pro48Ser, NP_612198.2:p.Pro48Ser, NP_612195.1:p.Pro48Ser, NP_612197.1:p.Pro48Ser, NP_612196.1:p.Pro48Ser, NP_001278238.1:p.Pro48Ser

Select item 14819051158.

rs1481905115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:101370341 (GRCh38)
15:101910546 (GRCh37)
Canonical SPDI:: NC_000015.10:101370340:G:A
Gene:: PCSK6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.101370341G>A, NC_000015.9:g.101910546G>A, NG_030047.4:g.159862C>T, NM_002570.5:c.1715C>T, NM_002570.4:c.1715C>T, NM_002570.3:c.1715C>T, NM_138319.4:c.1715C>T, NM_138319.3:c.1715C>T, NM_138319.2:c.1715C>T, NM_138325.4:c.1715C>T, NM_138325.3:c.1715C>T, NM_138325.2:c.1715C>T, NM_138324.3:c.1715C>T, NM_138324.2:c.1715C>T, NM_138324.1:c.1715C>T, NM_138323.3:c.1715C>T, NM_138323.2:c.1715C>T, NM_138323.1:c.1715C>T, NM_001291309.2:c.1493C>T, NM_001291309.1:c.1493C>T, NM_138320.1:c.1715C>T, NM_138321.1:c.1715C>T, NP_002561.1:p.Ala572Val, NP_612192.1:p.Ala572Val, NP_612198.2:p.Ala572Val, NP_612197.1:p.Ala572Val, NP_612196.1:p.Ala572Val, NP_001278238.1:p.Ala498Val

Select item 14812798579.

rs1481279857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:101489410 (GRCh38)
15:102029615 (GRCh37)
Canonical SPDI:: NC_000015.10:101489409:G:A
Gene:: PCSK6 (Varview), LOC107987228 (Varview), LOC124903566 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000037/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101489410G>A, NC_000015.9:g.102029615G>A, NG_030047.4:g.40793C>T, NM_002570.5:c.261C>T, NM_002570.4:c.261C>T, NM_002570.3:c.261C>T, NM_138319.4:c.261C>T, NM_138319.3:c.261C>T, NM_138319.2:c.261C>T, NM_138325.4:c.261C>T, NM_138325.3:c.261C>T, NM_138325.2:c.261C>T, NM_138322.4:c.261C>T, NM_138322.3:c.261C>T, NM_138322.2:c.261C>T, NM_138324.3:c.261C>T, NM_138324.2:c.261C>T, NM_138324.1:c.261C>T, NM_138323.3:c.261C>T, NM_138323.2:c.261C>T, NM_138323.1:c.261C>T, NM_001291309.2:c.261C>T, NM_001291309.1:c.261C>T, NM_138320.1:c.261C>T, NM_138321.1:c.261C>T

Select item 148113811910.

rs1481138119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 15:101393406 (GRCh38)
15:101933611 (GRCh37)
Canonical SPDI:: NC_000015.10:101393405:A:C,NC_000015.10:101393405:A:T
Gene:: PCSK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.101393406A>C, NC_000015.10:g.101393406A>T, NC_000015.9:g.101933611A>C, NC_000015.9:g.101933611A>T, NG_030047.4:g.136797T>G, NG_030047.4:g.136797T>A, NM_002570.5:c.1015T>G, NM_002570.5:c.1015T>A, NM_002570.4:c.1015T>G, NM_002570.4:c.1015T>A, NM_002570.3:c.1015T>G, NM_002570.3:c.1015T>A, NM_138319.4:c.1015T>G, NM_138319.4:c.1015T>A, NM_138319.3:c.1015T>G, NM_138319.3:c.1015T>A, NM_138319.2:c.1015T>G, NM_138319.2:c.1015T>A, NM_138325.4:c.1015T>G, NM_138325.4:c.1015T>A, NM_138325.3:c.1015T>G, NM_138325.3:c.1015T>A, NM_138325.2:c.1015T>G, NM_138325.2:c.1015T>A, NM_138322.4:c.1015T>G, NM_138322.4:c.1015T>A, NM_138322.3:c.1015T>G, NM_138322.3:c.1015T>A, NM_138322.2:c.1015T>G, NM_138322.2:c.1015T>A, NM_138324.3:c.1015T>G, NM_138324.3:c.1015T>A, NM_138324.2:c.1015T>G, NM_138324.2:c.1015T>A, NM_138324.1:c.1015T>G, NM_138324.1:c.1015T>A, NM_138323.3:c.1015T>G, NM_138323.3:c.1015T>A, NM_138323.2:c.1015T>G, NM_138323.2:c.1015T>A, NM_138323.1:c.1015T>G, NM_138323.1:c.1015T>A, NM_001291309.2:c.1015T>G, NM_001291309.2:c.1015T>A, NM_001291309.1:c.1015T>G, NM_001291309.1:c.1015T>A, NM_138320.1:c.1015T>G, NM_138320.1:c.1015T>A, NM_138321.1:c.1015T>G, NM_138321.1:c.1015T>A, NP_002561.1:p.Ser339Ala, NP_002561.1:p.Ser339Thr, NP_612192.1:p.Ser339Ala, NP_612192.1:p.Ser339Thr, NP_612198.2:p.Ser339Ala, NP_612198.2:p.Ser339Thr, NP_612195.1:p.Ser339Ala, NP_612195.1:p.Ser339Thr, NP_612197.1:p.Ser339Ala, NP_612197.1:p.Ser339Thr, NP_612196.1:p.Ser339Ala, NP_612196.1:p.Ser339Thr, NP_001278238.1:p.Ser339Ala, NP_001278238.1:p.Ser339Thr

Select item 148052784811.

rs1480527848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:101489384 (GRCh38)
15:102029589 (GRCh37)
Canonical SPDI:: NC_000015.10:101489383:T:C
Gene:: PCSK6 (Varview), LOC107987228 (Varview), LOC124903566 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000015.10:g.101489384T>C, NC_000015.9:g.102029589T>C, NG_030047.4:g.40819A>G, NM_002570.5:c.287A>G, NM_002570.4:c.287A>G, NM_002570.3:c.287A>G, NM_138319.4:c.287A>G, NM_138319.3:c.287A>G, NM_138319.2:c.287A>G, NM_138325.4:c.287A>G, NM_138325.3:c.287A>G, NM_138325.2:c.287A>G, NM_138322.4:c.287A>G, NM_138322.3:c.287A>G, NM_138322.2:c.287A>G, NM_138324.3:c.287A>G, NM_138324.2:c.287A>G, NM_138324.1:c.287A>G, NM_138323.3:c.287A>G, NM_138323.2:c.287A>G, NM_138323.1:c.287A>G, NM_001291309.2:c.287A>G, NM_001291309.1:c.287A>G, NM_138320.1:c.287A>G, NM_138321.1:c.287A>G, NP_002561.1:p.Asn96Ser, NP_612192.1:p.Asn96Ser, NP_612198.2:p.Asn96Ser, NP_612195.1:p.Asn96Ser, NP_612197.1:p.Asn96Ser, NP_612196.1:p.Asn96Ser, NP_001278238.1:p.Asn96Ser

Select item 147840346312.

rs1478403463 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 15:101393363 (GRCh38)
15:101933568 (GRCh37)
Canonical SPDI:: NC_000015.10:101393362:T:
Gene:: PCSK6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101393363del, NC_000015.9:g.101933568del, NG_030047.4:g.136840del, NM_002570.5:c.1058del, NM_002570.4:c.1058del, NM_002570.3:c.1058del, NM_138319.4:c.1058del, NM_138319.3:c.1058del, NM_138319.2:c.1058del, NM_138325.4:c.1058del, NM_138325.3:c.1058del, NM_138325.2:c.1058del, NM_138322.4:c.1058del, NM_138322.3:c.1058del, NM_138322.2:c.1058del, NM_138324.3:c.1058del, NM_138324.2:c.1058del, NM_138324.1:c.1058del, NM_138323.3:c.1058del, NM_138323.2:c.1058del, NM_138323.1:c.1058del, NM_001291309.2:c.1058del, NM_001291309.1:c.1058del, NM_138320.1:c.1058del, NM_138321.1:c.1058del, NP_002561.1:p.Asp353fs, NP_612192.1:p.Asp353fs, NP_612198.2:p.Asp353fs, NP_612195.1:p.Asp353fs, NP_612197.1:p.Asp353fs, NP_612196.1:p.Asp353fs, NP_001278238.1:p.Asp353fs

Select item 147801488013.

rs1478014880 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 15:101431380 (GRCh38)
15:101971585 (GRCh37)
Canonical SPDI:: NC_000015.10:101431374:ACCACCAC:ACCAC
Gene:: PCSK6 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
HGVS:: NC_000015.10:g.101431377CAC[1], NC_000015.9:g.101971582CAC[1], NG_030047.4:g.98823GGT[1], NM_002570.5:c.597GGT[1], NM_002570.4:c.597GGT[1], NM_002570.3:c.597GGT[1], NM_138319.4:c.597GGT[1], NM_138319.3:c.597GGT[1], NM_138319.2:c.597GGT[1], NM_138325.4:c.597GGT[1], NM_138325.3:c.597GGT[1], NM_138325.2:c.597GGT[1], NM_138322.4:c.597GGT[1], NM_138322.3:c.597GGT[1], NM_138322.2:c.597GGT[1], NM_138324.3:c.597GGT[1], NM_138324.2:c.597GGT[1], NM_138324.1:c.597GGT[1], NM_138323.3:c.597GGT[1], NM_138323.2:c.597GGT[1], NM_138323.1:c.597GGT[1], NM_001291309.2:c.597GGT[1], NM_001291309.1:c.597GGT[1], NM_138320.1:c.597GGT[1], NM_138321.1:c.597GGT[1], NP_002561.1:p.Val201del, NP_612192.1:p.Val201del, NP_612198.2:p.Val201del, NP_612195.1:p.Val201del, NP_612197.1:p.Val201del, NP_612196.1:p.Val201del, NP_001278238.1:p.Val201del

Select item 147800943514.

rs1478009435 has merged into rs989508320 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGC>-,AGCAGC [Show Flanks]
Chromosome:: 15:101489516 (GRCh38)
15:102029719 (GRCh37)
Canonical SPDI:: NC_000015.10:101489505:CAGCAGCAGCAGC:CAGCAGCAGC,NC_000015.10:101489505:CAGCAGCAGCAGC:CAGCAGCAGCAGCAGC
Gene:: PCSK6 (Varview), LOC107987228 (Varview), LOC124903566 (Varview)
Functional Consequence:: inframe_insertion,upstream_transcript_variant,inframe_deletion,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCAGCAGCAGCAGC=0.000071/1 (ALFA)
CAG=0.000015/2 (GnomAD)
CAG=0.000072/19 (TOPMED)
CAG=0.000142/2 (TOMMO)
HGVS:: NC_000015.10:g.101489507AGC[3], NC_000015.10:g.101489507AGC[5], NC_000015.9:g.102029710AGC[3], NC_000015.9:g.102029710AGC[5], NG_030047.4:g.40686CTG[3], NG_030047.4:g.40686CTG[5], NM_002570.5:c.154CTG[3], NM_002570.5:c.154CTG[5], NM_002570.4:c.154CTG[3], NM_002570.4:c.154CTG[5], NM_002570.3:c.154CTG[3], NM_002570.3:c.154CTG[5], NM_138319.4:c.154CTG[3], NM_138319.4:c.154CTG[5], NM_138319.3:c.154CTG[3], NM_138319.3:c.154CTG[5], NM_138319.2:c.154CTG[3], NM_138319.2:c.154CTG[5], NM_138325.4:c.154CTG[3], NM_138325.4:c.154CTG[5], NM_138325.3:c.154CTG[3], NM_138325.3:c.154CTG[5], NM_138325.2:c.154CTG[3], NM_138325.2:c.154CTG[5], NM_138322.4:c.154CTG[3], NM_138322.4:c.154CTG[5], NM_138322.3:c.154CTG[3], NM_138322.3:c.154CTG[5], NM_138322.2:c.154CTG[3], NM_138322.2:c.154CTG[5], NM_138324.3:c.154CTG[3], NM_138324.3:c.154CTG[5], NM_138324.2:c.154CTG[3], NM_138324.2:c.154CTG[5], NM_138324.1:c.154CTG[3], NM_138324.1:c.154CTG[5], NM_138323.3:c.154CTG[3], NM_138323.3:c.154CTG[5], NM_138323.2:c.154CTG[3], NM_138323.2:c.154CTG[5], NM_138323.1:c.154CTG[3], NM_138323.1:c.154CTG[5], NM_001291309.2:c.154CTG[3], NM_001291309.2:c.154CTG[5], NM_001291309.1:c.154CTG[3], NM_001291309.1:c.154CTG[5], NM_138320.1:c.154CTG[3], NM_138320.1:c.154CTG[5], NM_138321.1:c.154CTG[3], NM_138321.1:c.154CTG[5], NP_002561.1:p.Leu55del, NP_002561.1:p.Leu55dup, NP_612192.1:p.Leu55del, NP_612192.1:p.Leu55dup, NP_612198.2:p.Leu55del, NP_612198.2:p.Leu55dup, NP_612195.1:p.Leu55del, NP_612195.1:p.Leu55dup, NP_612197.1:p.Leu55del, NP_612197.1:p.Leu55dup, NP_612196.1:p.Leu55del, NP_612196.1:p.Leu55dup, NP_001278238.1:p.Leu55del, NP_001278238.1:p.Leu55dup

Select item 147786645915.

rs1477866459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:101366258 (GRCh38)
15:101906463 (GRCh37)
Canonical SPDI:: NC_000015.10:101366257:T:C
Gene:: PCSK6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101366258T>C, NC_000015.9:g.101906463T>C, NG_030047.4:g.163945A>G, NM_002570.5:c.1796A>G, NM_002570.4:c.1796A>G, NM_002570.3:c.1796A>G, NM_138319.4:c.1796A>G, NM_138319.3:c.1796A>G, NM_138319.2:c.1796A>G, NM_138325.4:c.1796A>G, NM_138325.3:c.1796A>G, NM_138325.2:c.1796A>G, NM_138324.3:c.1796A>G, NM_138324.2:c.1796A>G, NM_138324.1:c.1796A>G, NM_138323.3:c.1796A>G, NM_138323.2:c.1796A>G, NM_138323.1:c.1796A>G, NM_001291309.2:c.1574A>G, NM_001291309.1:c.1574A>G, NM_138320.1:c.1796A>G, NM_138321.1:c.1796A>G, NP_002561.1:p.Glu599Gly, NP_612192.1:p.Glu599Gly, NP_612198.2:p.Glu599Gly, NP_612197.1:p.Glu599Gly, NP_612196.1:p.Glu599Gly, NP_001278238.1:p.Glu525Gly

Select item 147774471216.

rs1477744712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:101427936 (GRCh38)
15:101968141 (GRCh37)
Canonical SPDI:: NC_000015.10:101427935:T:C
Gene:: PCSK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.101427936T>C, NC_000015.9:g.101968141T>C, NG_030047.4:g.102267A>G, NM_002570.5:c.779A>G, NM_002570.4:c.779A>G, NM_002570.3:c.779A>G, NM_138319.4:c.779A>G, NM_138319.3:c.779A>G, NM_138319.2:c.779A>G, NM_138325.4:c.779A>G, NM_138325.3:c.779A>G, NM_138325.2:c.779A>G, NM_138322.4:c.779A>G, NM_138322.3:c.779A>G, NM_138322.2:c.779A>G, NM_138324.3:c.779A>G, NM_138324.2:c.779A>G, NM_138324.1:c.779A>G, NM_138323.3:c.779A>G, NM_138323.2:c.779A>G, NM_138323.1:c.779A>G, NM_001291309.2:c.779A>G, NM_001291309.1:c.779A>G, NM_138320.1:c.779A>G, NM_138321.1:c.779A>G, NP_002561.1:p.Asn260Ser, NP_612192.1:p.Asn260Ser, NP_612198.2:p.Asn260Ser, NP_612195.1:p.Asn260Ser, NP_612197.1:p.Asn260Ser, NP_612196.1:p.Asn260Ser, NP_001278238.1:p.Asn260Ser

Select item 147764640317.

rs1477646403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:101370354 (GRCh38)
15:101910559 (GRCh37)
Canonical SPDI:: NC_000015.10:101370353:A:T
Gene:: PCSK6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.101370354A>T, NC_000015.9:g.101910559A>T, NG_030047.4:g.159849T>A, NM_002570.5:c.1702T>A, NM_002570.4:c.1702T>A, NM_002570.3:c.1702T>A, NM_138319.4:c.1702T>A, NM_138319.3:c.1702T>A, NM_138319.2:c.1702T>A, NM_138325.4:c.1702T>A, NM_138325.3:c.1702T>A, NM_138325.2:c.1702T>A, NM_138324.3:c.1702T>A, NM_138324.2:c.1702T>A, NM_138324.1:c.1702T>A, NM_138323.3:c.1702T>A, NM_138323.2:c.1702T>A, NM_138323.1:c.1702T>A, NM_001291309.2:c.1480T>A, NM_001291309.1:c.1480T>A, NM_138320.1:c.1702T>A, NM_138321.1:c.1702T>A, NP_002561.1:p.Ser568Thr, NP_612192.1:p.Ser568Thr, NP_612198.2:p.Ser568Thr, NP_612197.1:p.Ser568Thr, NP_612196.1:p.Ser568Thr, NP_001278238.1:p.Ser494Thr

Select item 147675148918.

rs1476751489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:101430009 (GRCh38)
15:101970214 (GRCh37)
Canonical SPDI:: NC_000015.10:101430008:A:C
Gene:: PCSK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.101430009A>C, NC_000015.9:g.101970214A>C, NG_030047.4:g.100194T>G, NM_002570.5:c.712T>G, NM_002570.4:c.712T>G, NM_002570.3:c.712T>G, NM_138319.4:c.712T>G, NM_138319.3:c.712T>G, NM_138319.2:c.712T>G, NM_138325.4:c.712T>G, NM_138325.3:c.712T>G, NM_138325.2:c.712T>G, NM_138322.4:c.712T>G, NM_138322.3:c.712T>G, NM_138322.2:c.712T>G, NM_138324.3:c.712T>G, NM_138324.2:c.712T>G, NM_138324.1:c.712T>G, NM_138323.3:c.712T>G, NM_138323.2:c.712T>G, NM_138323.1:c.712T>G, NM_001291309.2:c.712T>G, NM_001291309.1:c.712T>G, NM_138320.1:c.712T>G, NM_138321.1:c.712T>G, NP_002561.1:p.Tyr238Asp, NP_612192.1:p.Tyr238Asp, NP_612198.2:p.Tyr238Asp, NP_612195.1:p.Tyr238Asp, NP_612197.1:p.Tyr238Asp, NP_612196.1:p.Tyr238Asp, NP_001278238.1:p.Tyr238Asp

Select item 147464028219.

rs1474640282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:101393274 (GRCh38)
15:101933479 (GRCh37)
Canonical SPDI:: NC_000015.10:101393273:C:T
Gene:: PCSK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101393274C>T, NC_000015.9:g.101933479C>T, NG_030047.4:g.136929G>A, NM_002570.5:c.1147G>A, NM_002570.4:c.1147G>A, NM_002570.3:c.1147G>A, NM_138319.4:c.1147G>A, NM_138319.3:c.1147G>A, NM_138319.2:c.1147G>A, NM_138325.4:c.1147G>A, NM_138325.3:c.1147G>A, NM_138325.2:c.1147G>A, NM_138322.4:c.1147G>A, NM_138322.3:c.1147G>A, NM_138322.2:c.1147G>A, NM_138324.3:c.1147G>A, NM_138324.2:c.1147G>A, NM_138324.1:c.1147G>A, NM_138323.3:c.1147G>A, NM_138323.2:c.1147G>A, NM_138323.1:c.1147G>A, NM_001291309.2:c.1147G>A, NM_001291309.1:c.1147G>A, NM_138320.1:c.1147G>A, NM_138321.1:c.1147G>A, NP_002561.1:p.Glu383Lys, NP_612192.1:p.Glu383Lys, NP_612198.2:p.Glu383Lys, NP_612195.1:p.Glu383Lys, NP_612197.1:p.Glu383Lys, NP_612196.1:p.Glu383Lys, NP_001278238.1:p.Glu383Lys

Select item 147461066820.

rs1474610668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:101382121 (GRCh38)
15:101922326 (GRCh37)
Canonical SPDI:: NC_000015.10:101382120:C:T
Gene:: PCSK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.101382121C>T, NC_000015.9:g.101922326C>T, NG_030047.4:g.148082G>A, NM_002570.5:c.1503G>A, NM_002570.4:c.1503G>A, NM_002570.3:c.1503G>A, NM_138319.4:c.1503G>A, NM_138319.3:c.1503G>A, NM_138319.2:c.1503G>A, NM_138325.4:c.1503G>A, NM_138325.3:c.1503G>A, NM_138325.2:c.1503G>A, NM_138324.3:c.1503G>A, NM_138324.2:c.1503G>A, NM_138324.1:c.1503G>A, NM_138323.3:c.1503G>A, NM_138323.2:c.1503G>A, NM_138323.1:c.1503G>A, NM_138320.1:c.1503G>A, NM_138321.1:c.1503G>A, NP_002561.1:p.Met501Ile, NP_612192.1:p.Met501Ile, NP_612198.2:p.Met501Ile, NP_612197.1:p.Met501Ile, NP_612196.1:p.Met501Ile

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