SNP Links for Protein (Select 17738302) - SNP

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Links from Protein

Items: 1 to 20 of 701

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Select item 14902294961.

rs1490229496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:99795319 (GRCh38)
3:99514163 (GRCh37)
Canonical SPDI:: NC_000003.12:99795318:C:A
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.99795319C>A, NC_000003.11:g.99514163C>A, NM_001850.5:c.1418C>A, NM_001850.4:c.1418C>A, NM_020351.4:c.1418C>A, NM_020351.3:c.1418C>A, NP_001841.2:p.Pro473His, NP_065084.2:p.Pro473His

Select item 14894143032.

rs1489414303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:99794366 (GRCh38)
3:99513210 (GRCh37)
Canonical SPDI:: NC_000003.12:99794365:A:T
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0.000028/7 (GnomAD_exomes)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.99794366A>T, NC_000003.11:g.99513210A>T, NM_001850.5:c.465A>T, NM_001850.4:c.465A>T, NM_020351.4:c.465A>T, NM_020351.3:c.465A>T

Select item 14842895003.

rs1484289500 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:99795476 (GRCh38)
3:99514321 (GRCh37)
Canonical SPDI:: NC_000003.12:99795476:CCCCC:CCCCCC
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000003.12:g.99795481dup, NC_000003.11:g.99514325dup, NM_001850.5:c.1580dup, NM_001850.4:c.1580dup, NM_020351.4:c.1580dup, NM_020351.3:c.1580dup, NP_001841.2:p.Gly528fs, NP_065084.2:p.Gly528fs

Select item 14837986694.

rs1483798669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:99794868 (GRCh38)
3:99513712 (GRCh37)
Canonical SPDI:: NC_000003.12:99794867:A:C,NC_000003.12:99794867:A:G
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000071/2 (TOMMO)
HGVS:: NC_000003.12:g.99794868A>C, NC_000003.12:g.99794868A>G, NC_000003.11:g.99513712A>C, NC_000003.11:g.99513712A>G, NM_001850.5:c.967A>C, NM_001850.5:c.967A>G, NM_001850.4:c.967A>C, NM_001850.4:c.967A>G, NM_020351.4:c.967A>C, NM_020351.4:c.967A>G, NM_020351.3:c.967A>C, NM_020351.3:c.967A>G, NP_001841.2:p.Ile323Leu, NP_001841.2:p.Ile323Val, NP_065084.2:p.Ile323Leu, NP_065084.2:p.Ile323Val

Select item 14806045015.

rs1480604501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:99795119 (GRCh38)
3:99513963 (GRCh37)
Canonical SPDI:: NC_000003.12:99795118:T:C
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.99795119T>C, NC_000003.11:g.99513963T>C, NM_001850.5:c.1218T>C, NM_001850.4:c.1218T>C, NM_020351.4:c.1218T>C, NM_020351.3:c.1218T>C

Select item 14789570576.

rs1478957057 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:99794390 (GRCh38)
3:99513234 (GRCh37)
Canonical SPDI:: NC_000003.12:99794389:T:G
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.99794390T>G, NC_000003.11:g.99513234T>G, NM_001850.5:c.489T>G, NM_001850.4:c.489T>G, NM_020351.4:c.489T>G, NM_020351.3:c.489T>G

Select item 14785107647.

rs1478510764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:99795817 (GRCh38)
3:99514661 (GRCh37)
Canonical SPDI:: NC_000003.12:99795816:T:C
Gene:: COL8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.99795817T>C, NC_000003.11:g.99514661T>C, NM_001850.5:c.1916T>C, NM_001850.4:c.1916T>C, NM_020351.4:c.1916T>C, NM_020351.3:c.1916T>C, NP_001841.2:p.Leu639Pro, NP_065084.2:p.Leu639Pro

Select item 14784403458.

rs1478440345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:99795122 (GRCh38)
3:99513966 (GRCh37)
Canonical SPDI:: NC_000003.12:99795121:T:C
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.99795122T>C, NC_000003.11:g.99513966T>C, NM_001850.5:c.1221T>C, NM_001850.4:c.1221T>C, NM_020351.4:c.1221T>C, NM_020351.3:c.1221T>C

Select item 14773644119.

rs1477364411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:99790835 (GRCh38)
3:99509679 (GRCh37)
Canonical SPDI:: NC_000003.12:99790834:C:A
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.99790835C>A, NC_000003.11:g.99509679C>A, NM_001850.5:c.153C>A, NM_001850.4:c.153C>A, NM_020351.4:c.153C>A, NM_020351.3:c.153C>A, NP_001841.2:p.Tyr51Ter, NP_065084.2:p.Tyr51Ter

Select item 147731980510.

rs1477319805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:99795135 (GRCh38)
3:99513979 (GRCh37)
Canonical SPDI:: NC_000003.12:99795134:C:G
Gene:: COL8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.99795135C>G, NC_000003.11:g.99513979C>G, NM_001850.5:c.1234C>G, NM_001850.4:c.1234C>G, NM_020351.4:c.1234C>G, NM_020351.3:c.1234C>G, NP_001841.2:p.Pro412Ala, NP_065084.2:p.Pro412Ala

Select item 147618118711.

rs1476181187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:99790882 (GRCh38)
3:99509726 (GRCh37)
Canonical SPDI:: NC_000003.12:99790881:G:T
Gene:: COL8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.99790882G>T, NC_000003.11:g.99509726G>T, NM_001850.5:c.200G>T, NM_001850.4:c.200G>T, NM_020351.4:c.200G>T, NM_020351.3:c.200G>T, NP_001841.2:p.Gly67Val, NP_065084.2:p.Gly67Val

Select item 147535216912.

rs1475352169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:99790931 (GRCh38)
3:99509775 (GRCh37)
Canonical SPDI:: NC_000003.12:99790930:T:C
Gene:: COL8A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.99790931T>C, NC_000003.11:g.99509775T>C, NM_001850.5:c.249T>C, NM_001850.4:c.249T>C, NM_020351.4:c.249T>C, NM_020351.3:c.249T>C

Select item 147327263813.

rs1473272638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:99795655 (GRCh38)
3:99514499 (GRCh37)
Canonical SPDI:: NC_000003.12:99795654:T:G
Gene:: COL8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.99795655T>G, NC_000003.11:g.99514499T>G, NM_001850.5:c.1754T>G, NM_001850.4:c.1754T>G, NM_020351.4:c.1754T>G, NM_020351.3:c.1754T>G, NP_001841.2:p.Leu585Arg, NP_065084.2:p.Leu585Arg

Select item 147239028714.

rs1472390287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:99795008 (GRCh38)
3:99513852 (GRCh37)
Canonical SPDI:: NC_000003.12:99795007:G:A
Gene:: COL8A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000003.12:g.99795008G>A, NC_000003.11:g.99513852G>A, NM_001850.5:c.1107G>A, NM_001850.4:c.1107G>A, NM_020351.4:c.1107G>A, NM_020351.3:c.1107G>A

Select item 147235435515.

rs1472354355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:99794527 (GRCh38)
3:99513372 (GRCh37)
Canonical SPDI:: NC_000003.12:99794527:G:GG
Gene:: COL8A1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.99794528dup, NC_000003.11:g.99513372dup, NM_001850.5:c.627dup, NM_001850.4:c.627dup, NM_020351.4:c.627dup, NM_020351.3:c.627dup, NP_001841.2:p.Pro210fs, NP_065084.2:p.Pro210fs

Select item 147219303416.

rs1472193034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:99791004 (GRCh38)
3:99509848 (GRCh37)
Canonical SPDI:: NC_000003.12:99791003:G:A
Gene:: COL8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.99791004G>A, NC_000003.11:g.99509848G>A, NM_001850.5:c.322G>A, NM_001850.4:c.322G>A, NM_020351.4:c.322G>A, NM_020351.3:c.322G>A, NP_001841.2:p.Gly108Ser, NP_065084.2:p.Gly108Ser

Select item 147177328117.

rs1471773281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:99794408 (GRCh38)
3:99513252 (GRCh37)
Canonical SPDI:: NC_000003.12:99794407:A:G
Gene:: COL8A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000003.12:g.99794408A>G, NC_000003.11:g.99513252A>G, NM_001850.5:c.507A>G, NM_001850.4:c.507A>G, NM_020351.4:c.507A>G, NM_020351.3:c.507A>G

Select item 147082766118.

rs1470827661 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCAGGACC>- [Show Flanks]
Chromosome:: 3:99795602 (GRCh38)
3:99514446 (GRCh37)
Canonical SPDI:: NC_000003.12:99795590:CCTCCAGGACCTCCAGGACC:CCTCCAGGACC
Gene:: COL8A1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCAGGACC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.99795593TCCAGGACC[1], NC_000003.11:g.99514437TCCAGGACC[1], NM_001850.5:c.1692TCCAGGACC[1], NM_001850.4:c.1692TCCAGGACC[1], NM_020351.4:c.1692TCCAGGACC[1], NM_020351.3:c.1692TCCAGGACC[1], NP_001841.2:p.560GPP[3], NP_065084.2:p.560GPP[3]

Select item 147047958519.

rs1470479585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:99795622 (GRCh38)
3:99514466 (GRCh37)
Canonical SPDI:: NC_000003.12:99795621:T:C
Gene:: COL8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.99795622T>C, NC_000003.11:g.99514466T>C, NM_001850.5:c.1721T>C, NM_001850.4:c.1721T>C, NM_020351.4:c.1721T>C, NM_020351.3:c.1721T>C, NP_001841.2:p.Met574Thr, NP_065084.2:p.Met574Thr

Select item 147029820020.

rs1470298200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:99795293 (GRCh38)
3:99514137 (GRCh37)
Canonical SPDI:: NC_000003.12:99795292:T:G
Gene:: COL8A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.99795293T>G, NC_000003.11:g.99514137T>G, NM_001850.5:c.1392T>G, NM_001850.4:c.1392T>G, NM_020351.4:c.1392T>G, NM_020351.3:c.1392T>G

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