SNP Links for Protein (Select 47087157) - SNP

Select item 14888879211.

rs1488887921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:21172455 (GRCh38)
10:21461384 (GRCh37)
Canonical SPDI:: NC_000010.11:21172454:T:G
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.21172455T>G, NC_000010.10:g.21461384T>G, NG_017092.1:g.6733A>C, NM_213569.2:c.92A>C, NM_001173484.2:c.92A>C, NM_001173484.1:c.92A>C, NM_001377324.1:c.35A>C, NM_001377322.1:c.92A>C, NM_001377323.1:c.44A>C, NM_001377325.1:c.26A>C, NM_001377328.1:c.-17A>C, NM_001377327.1:c.-17A>C, NM_001377326.1:c.-17A>C, XM_047424444.1:c.92A>C, NP_998734.1:p.His31Pro, NP_001166955.1:p.His31Pro, NP_001364253.1:p.His12Pro, NP_001364251.1:p.His31Pro, NP_001364252.1:p.His15Pro, NP_001364254.1:p.His9Pro, XP_047280400.1:p.His31Pro

Select item 14873731522.

rs1487373152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:21173790 (GRCh38)
10:21462719 (GRCh37)
Canonical SPDI:: NC_000010.11:21173789:G:A
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.21173790G>A, NC_000010.10:g.21462719G>A, NG_017092.1:g.5398C>T, NM_213569.2:c.44C>T, NM_001173484.2:c.44C>T, NM_001173484.1:c.44C>T, NM_001377324.1:c.-115C>T, NM_001377322.1:c.44C>T, XM_047424444.1:c.44C>T, NP_998734.1:p.Thr15Ile, NP_001166955.1:p.Thr15Ile, NP_001364251.1:p.Thr15Ile, XP_047280400.1:p.Thr15Ile

Select item 14825951663.

rs1482595166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:20961720 (GRCh38)
10:21250649 (GRCh37)
Canonical SPDI:: NC_000010.11:20961719:G:A
Gene:: NEBL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.20961720G>A, NC_000010.10:g.21250649G>A, NG_017092.1:g.217468C>T, NM_213569.2:c.309C>T, NM_001173484.2:c.309C>T, NM_001173484.1:c.309C>T, NM_001377324.1:c.252C>T, NM_001377322.1:c.309C>T, NM_001377323.1:c.261C>T, NM_001377325.1:c.243C>T, NM_001377328.1:c.201C>T, NM_001377327.1:c.201C>T, NM_001377326.1:c.201C>T, XM_047424444.1:c.309C>T

Select item 14815739984.

rs1481573998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:21173825 (GRCh38)
10:21462754 (GRCh37)
Canonical SPDI:: NC_000010.11:21173824:G:A
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.21173825G>A, NC_000010.10:g.21462754G>A, NG_017092.1:g.5363C>T, NM_213569.2:c.9C>T, NM_001173484.2:c.9C>T, NM_001173484.1:c.9C>T, NM_001377324.1:c.-150C>T, NM_001377322.1:c.9C>T, XM_047424444.1:c.9C>T

Select item 14798225955.

rs1479822595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:21020159 (GRCh38)
10:21309088 (GRCh37)
Canonical SPDI:: NC_000010.11:21020158:A:G
Gene:: NEBL (Varview), LOC124902389 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_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_000010.11:g.21020159A>G, NC_000010.10:g.21309088A>G, NG_017092.1:g.159029T>C, NM_213569.2:c.207T>C, NM_001173484.2:c.207T>C, NM_001173484.1:c.207T>C, NM_001377324.1:c.150T>C, NM_001377322.1:c.207T>C, NM_001377323.1:c.159T>C, NM_001377325.1:c.141T>C, NM_001377328.1:c.99T>C, NM_001377327.1:c.99T>C, NM_001377326.1:c.99T>C, XM_047424444.1:c.207T>C

Select item 14752601296.

rs1475260129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:21172440 (GRCh38)
10:21461369 (GRCh37)
Canonical SPDI:: NC_000010.11:21172439:T:C
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.21172440T>C, NC_000010.10:g.21461369T>C, NG_017092.1:g.6748A>G, NM_213569.2:c.107A>G, NM_001173484.2:c.107A>G, NM_001173484.1:c.107A>G, NM_001377324.1:c.50A>G, NM_001377322.1:c.107A>G, NM_001377323.1:c.59A>G, NM_001377325.1:c.41A>G, NM_001377328.1:c.-2A>G, NM_001377327.1:c.-2A>G, NM_001377326.1:c.-2A>G, XM_047424444.1:c.107A>G, NP_998734.1:p.Lys36Arg, NP_001166955.1:p.Lys36Arg, NP_001364253.1:p.Lys17Arg, NP_001364251.1:p.Lys36Arg, NP_001364252.1:p.Lys20Arg, NP_001364254.1:p.Lys14Arg, XP_047280400.1:p.Lys36Arg

Select item 14650992947.

rs1465099294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:20785838 (GRCh38)
10:21074767 (GRCh37)
Canonical SPDI:: NC_000010.11:20785837:T:A
Gene:: NEBL (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.20785838T>A, NC_000010.10:g.21074767T>A, NG_017092.1:g.393350A>T, NM_006393.3:c.2954A>T, NM_006393.2:c.2954A>T, NM_213569.2:c.722A>T, NM_001173484.2:c.*45A>T, NM_001173484.1:c.*45A>T, NM_001377324.1:c.665A>T, NM_001377322.1:c.815A>T, NM_001377323.1:c.674A>T, NM_001377325.1:c.656A>T, NM_001377328.1:c.614A>T, NM_001377327.1:c.614A>T, NM_001377326.1:c.614A>T, XM_005252342.6:c.2852A>T, XM_005252342.5:c.2852A>T, XM_005252342.4:c.2852A>T, XM_005252342.3:c.2852A>T, XM_005252342.2:c.2852A>T, XM_005252342.1:c.2852A>T, XM_005252343.6:c.2711A>T, XM_005252343.5:c.2711A>T, XM_005252343.4:c.2711A>T, XM_005252343.3:c.2711A>T, XM_005252343.2:c.2711A>T, XM_005252343.1:c.2711A>T, XM_011519291.3:c.2906A>T, XM_011519291.2:c.2906A>T, XM_011519291.1:c.2906A>T, XM_047424443.1:c.2906A>T, XM_047424444.1:c.965A>T, NM_016365.1:c.2945A>T, NP_006384.1:p.Gln985Leu, NP_998734.1:p.Gln241Leu, NP_001364253.1:p.Gln222Leu, NP_001364251.1:p.Gln272Leu, NP_001364252.1:p.Gln225Leu, NP_001364254.1:p.Gln219Leu, NP_001364257.1:p.Gln205Leu, NP_001364256.1:p.Gln205Leu, NP_001364255.1:p.Gln205Leu, XP_005252399.1:p.Gln951Leu, XP_005252400.1:p.Gln904Leu, XP_011517593.1:p.Gln969Leu, XP_047280399.1:p.Gln969Leu, XP_047280400.1:p.Gln322Leu

Select item 14617811498.

rs1461781149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:20787290 (GRCh38)
10:21076219 (GRCh37)
Canonical SPDI:: NC_000010.11:20787289:G:A
Gene:: NEBL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.20787290G>A, NC_000010.10:g.21076219G>A, NG_017092.1:g.391898C>T, NM_006393.3:c.2780C>T, NM_006393.2:c.2780C>T, NM_213569.2:c.548C>T, NM_001173484.2:c.548C>T, NM_001173484.1:c.548C>T, NM_001377324.1:c.491C>T, NM_001377322.1:c.641C>T, NM_001377323.1:c.500C>T, NM_001377325.1:c.482C>T, NM_001377328.1:c.440C>T, NM_001377327.1:c.440C>T, NM_001377326.1:c.440C>T, XM_005252342.6:c.2678C>T, XM_005252342.5:c.2678C>T, XM_005252342.4:c.2678C>T, XM_005252342.3:c.2678C>T, XM_005252342.2:c.2678C>T, XM_005252342.1:c.2678C>T, XM_005252343.6:c.2537C>T, XM_005252343.5:c.2537C>T, XM_005252343.4:c.2537C>T, XM_005252343.3:c.2537C>T, XM_005252343.2:c.2537C>T, XM_005252343.1:c.2537C>T, XM_011519291.3:c.2732C>T, XM_011519291.2:c.2732C>T, XM_011519291.1:c.2732C>T, XM_047424443.1:c.2732C>T, XM_047424444.1:c.791C>T, NM_016365.1:c.2771C>T, NP_006384.1:p.Ala927Val, NP_998734.1:p.Ala183Val, NP_001166955.1:p.Ala183Val, NP_001364253.1:p.Ala164Val, NP_001364251.1:p.Ala214Val, NP_001364252.1:p.Ala167Val, NP_001364254.1:p.Ala161Val, NP_001364257.1:p.Ala147Val, NP_001364256.1:p.Ala147Val, NP_001364255.1:p.Ala147Val, XP_005252399.1:p.Ala893Val, XP_005252400.1:p.Ala846Val, XP_011517593.1:p.Ala911Val, XP_047280399.1:p.Ala911Val, XP_047280400.1:p.Ala264Val

Select item 14576652189.

rs1457665218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:20812835 (GRCh38)
10:21101764 (GRCh37)
Canonical SPDI:: NC_000010.11:20812834:C:T
Gene:: NEBL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20812835C>T, NC_000010.10:g.21101764C>T, NG_017092.1:g.366353G>A, NM_006393.3:c.2452G>A, NM_006393.2:c.2452G>A, NM_213569.2:c.463G>A, NM_001173484.2:c.463G>A, NM_001173484.1:c.463G>A, NM_001377324.1:c.406G>A, NM_001377322.1:c.463G>A, NM_001377323.1:c.415G>A, NM_001377325.1:c.397G>A, NM_001377328.1:c.355G>A, NM_001377327.1:c.355G>A, NM_001377326.1:c.355G>A, XM_005252342.6:c.2350G>A, XM_005252342.5:c.2350G>A, XM_005252342.4:c.2350G>A, XM_005252342.3:c.2350G>A, XM_005252342.2:c.2350G>A, XM_005252342.1:c.2350G>A, XM_005252343.6:c.2452G>A, XM_005252343.5:c.2452G>A, XM_005252343.4:c.2452G>A, XM_005252343.3:c.2452G>A, XM_005252343.2:c.2452G>A, XM_005252343.1:c.2452G>A, XM_011519291.3:c.2404G>A, XM_011519291.2:c.2404G>A, XM_011519291.1:c.2404G>A, XM_047424443.1:c.2404G>A, XM_047424444.1:c.463G>A, NM_016365.1:c.2443G>A, NP_006384.1:p.Asp818Asn, NP_998734.1:p.Asp155Asn, NP_001166955.1:p.Asp155Asn, NP_001364253.1:p.Asp136Asn, NP_001364251.1:p.Asp155Asn, NP_001364252.1:p.Asp139Asn, NP_001364254.1:p.Asp133Asn, NP_001364257.1:p.Asp119Asn, NP_001364256.1:p.Asp119Asn, NP_001364255.1:p.Asp119Asn, XP_005252399.1:p.Asp784Asn, XP_005252400.1:p.Asp818Asn, XP_011517593.1:p.Asp802Asn, XP_047280399.1:p.Asp802Asn, XP_047280400.1:p.Asp155Asn

Select item 144453216310.

rs1444532163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:20961753 (GRCh38)
10:21250682 (GRCh37)
Canonical SPDI:: NC_000010.11:20961752:T:G
Gene:: NEBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20961753T>G, NC_000010.10:g.21250682T>G, NG_017092.1:g.217435A>C, NM_213569.2:c.276A>C, NM_001173484.2:c.276A>C, NM_001173484.1:c.276A>C, NM_001377324.1:c.219A>C, NM_001377322.1:c.276A>C, NM_001377323.1:c.228A>C, NM_001377325.1:c.210A>C, NM_001377328.1:c.168A>C, NM_001377327.1:c.168A>C, NM_001377326.1:c.168A>C, XM_047424444.1:c.276A>C, NP_998734.1:p.Glu92Asp, NP_001166955.1:p.Glu92Asp, NP_001364253.1:p.Glu73Asp, NP_001364251.1:p.Glu92Asp, NP_001364252.1:p.Glu76Asp, NP_001364254.1:p.Glu70Asp, NP_001364257.1:p.Glu56Asp, NP_001364256.1:p.Glu56Asp, NP_001364255.1:p.Glu56Asp, XP_047280400.1:p.Glu92Asp

Select item 144364500811.

rs1443645008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20961773 (GRCh38)
10:21250702 (GRCh37)
Canonical SPDI:: NC_000010.11:20961772:A:G
Gene:: NEBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.20961773A>G, NC_000010.10:g.21250702A>G, NG_017092.1:g.217415T>C, NM_213569.2:c.256T>C, NM_001173484.2:c.256T>C, NM_001173484.1:c.256T>C, NM_001377324.1:c.199T>C, NM_001377322.1:c.256T>C, NM_001377323.1:c.208T>C, NM_001377325.1:c.190T>C, NM_001377328.1:c.148T>C, NM_001377327.1:c.148T>C, NM_001377326.1:c.148T>C, XM_047424444.1:c.256T>C, NP_998734.1:p.Tyr86His, NP_001166955.1:p.Tyr86His, NP_001364253.1:p.Tyr67His, NP_001364251.1:p.Tyr86His, NP_001364252.1:p.Tyr70His, NP_001364254.1:p.Tyr64His, NP_001364257.1:p.Tyr50His, NP_001364256.1:p.Tyr50His, NP_001364255.1:p.Tyr50His, XP_047280400.1:p.Tyr86His

Select item 144343377412.

rs1443433774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:20961701 (GRCh38)
10:21250630 (GRCh37)
Canonical SPDI:: NC_000010.11:20961700:G:A
Gene:: NEBL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20961701G>A, NC_000010.10:g.21250630G>A, NG_017092.1:g.217487C>T, NM_213569.2:c.328C>T, NM_001173484.2:c.328C>T, NM_001173484.1:c.328C>T, NM_001377324.1:c.271C>T, NM_001377322.1:c.328C>T, NM_001377323.1:c.280C>T, NM_001377325.1:c.262C>T, NM_001377328.1:c.220C>T, NM_001377327.1:c.220C>T, NM_001377326.1:c.220C>T, XM_047424444.1:c.328C>T

Select item 144303614013.

rs1443036140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:21172396 (GRCh38)
10:21461325 (GRCh37)
Canonical SPDI:: NC_000010.11:21172395:G:T
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.21172396G>T, NC_000010.10:g.21461325G>T, NG_017092.1:g.6792C>A, NM_213569.2:c.151C>A, NM_001173484.2:c.151C>A, NM_001173484.1:c.151C>A, NM_001377324.1:c.94C>A, NM_001377322.1:c.151C>A, NM_001377323.1:c.103C>A, NM_001377325.1:c.85C>A, NM_001377328.1:c.43C>A, NM_001377327.1:c.43C>A, NM_001377326.1:c.43C>A, XM_047424444.1:c.151C>A, NP_998734.1:p.Pro51Thr, NP_001166955.1:p.Pro51Thr, NP_001364253.1:p.Pro32Thr, NP_001364251.1:p.Pro51Thr, NP_001364252.1:p.Pro35Thr, NP_001364254.1:p.Pro29Thr, NP_001364257.1:p.Pro15Thr, NP_001364256.1:p.Pro15Thr, NP_001364255.1:p.Pro15Thr, XP_047280400.1:p.Pro51Thr

Select item 144223625014.

rs1442236250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20785825 (GRCh38)
10:21074754 (GRCh37)
Canonical SPDI:: NC_000010.11:20785824:A:G
Gene:: NEBL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_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_000010.11:g.20785825A>G, NC_000010.10:g.21074754A>G, NG_017092.1:g.393363T>C, NM_006393.3:c.2967T>C, NM_006393.2:c.2967T>C, NM_213569.2:c.735T>C, NM_001173484.2:c.*58T>C, NM_001173484.1:c.*58T>C, NM_001377324.1:c.678T>C, NM_001377322.1:c.828T>C, NM_001377323.1:c.687T>C, NM_001377325.1:c.669T>C, NM_001377328.1:c.627T>C, NM_001377327.1:c.627T>C, NM_001377326.1:c.627T>C, XM_005252342.6:c.2865T>C, XM_005252342.5:c.2865T>C, XM_005252342.4:c.2865T>C, XM_005252342.3:c.2865T>C, XM_005252342.2:c.2865T>C, XM_005252342.1:c.2865T>C, XM_005252343.6:c.2724T>C, XM_005252343.5:c.2724T>C, XM_005252343.4:c.2724T>C, XM_005252343.3:c.2724T>C, XM_005252343.2:c.2724T>C, XM_005252343.1:c.2724T>C, XM_011519291.3:c.2919T>C, XM_011519291.2:c.2919T>C, XM_011519291.1:c.2919T>C, XM_047424443.1:c.2919T>C, XM_047424444.1:c.978T>C, NM_016365.1:c.2958T>C

Select item 144124358415.

rs1441243584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:20812924 (GRCh38)
10:21101853 (GRCh37)
Canonical SPDI:: NC_000010.11:20812923:T:C
Gene:: NEBL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_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_000010.11:g.20812924T>C, NC_000010.10:g.21101853T>C, NG_017092.1:g.366264A>G, NM_006393.3:c.2363A>G, NM_006393.2:c.2363A>G, NM_213569.2:c.374A>G, NM_001173484.2:c.374A>G, NM_001173484.1:c.374A>G, NM_001377324.1:c.317A>G, NM_001377322.1:c.374A>G, NM_001377323.1:c.326A>G, NM_001377325.1:c.308A>G, NM_001377328.1:c.266A>G, NM_001377327.1:c.266A>G, NM_001377326.1:c.266A>G, XM_005252342.6:c.2261A>G, XM_005252342.5:c.2261A>G, XM_005252342.4:c.2261A>G, XM_005252342.3:c.2261A>G, XM_005252342.2:c.2261A>G, XM_005252342.1:c.2261A>G, XM_005252343.6:c.2363A>G, XM_005252343.5:c.2363A>G, XM_005252343.4:c.2363A>G, XM_005252343.3:c.2363A>G, XM_005252343.2:c.2363A>G, XM_005252343.1:c.2363A>G, XM_011519291.3:c.2315A>G, XM_011519291.2:c.2315A>G, XM_011519291.1:c.2315A>G, XM_047424443.1:c.2315A>G, XM_047424444.1:c.374A>G, NM_016365.1:c.2354A>G, NP_006384.1:p.Asp788Gly, NP_998734.1:p.Asp125Gly, NP_001166955.1:p.Asp125Gly, NP_001364253.1:p.Asp106Gly, NP_001364251.1:p.Asp125Gly, NP_001364252.1:p.Asp109Gly, NP_001364254.1:p.Asp103Gly, NP_001364257.1:p.Asp89Gly, NP_001364256.1:p.Asp89Gly, NP_001364255.1:p.Asp89Gly, XP_005252399.1:p.Asp754Gly, XP_005252400.1:p.Asp788Gly, XP_011517593.1:p.Asp772Gly, XP_047280399.1:p.Asp772Gly, XP_047280400.1:p.Asp125Gly

Select item 143932265716.

rs1439322657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:20812894 (GRCh38)
10:21101823 (GRCh37)
Canonical SPDI:: NC_000010.11:20812893:G:A
Gene:: NEBL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_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_000010.11:g.20812894G>A, NC_000010.10:g.21101823G>A, NG_017092.1:g.366294C>T, NM_006393.3:c.2393C>T, NM_006393.2:c.2393C>T, NM_213569.2:c.404C>T, NM_001173484.2:c.404C>T, NM_001173484.1:c.404C>T, NM_001377324.1:c.347C>T, NM_001377322.1:c.404C>T, NM_001377323.1:c.356C>T, NM_001377325.1:c.338C>T, NM_001377328.1:c.296C>T, NM_001377327.1:c.296C>T, NM_001377326.1:c.296C>T, XM_005252342.6:c.2291C>T, XM_005252342.5:c.2291C>T, XM_005252342.4:c.2291C>T, XM_005252342.3:c.2291C>T, XM_005252342.2:c.2291C>T, XM_005252342.1:c.2291C>T, XM_005252343.6:c.2393C>T, XM_005252343.5:c.2393C>T, XM_005252343.4:c.2393C>T, XM_005252343.3:c.2393C>T, XM_005252343.2:c.2393C>T, XM_005252343.1:c.2393C>T, XM_011519291.3:c.2345C>T, XM_011519291.2:c.2345C>T, XM_011519291.1:c.2345C>T, XM_047424443.1:c.2345C>T, XM_047424444.1:c.404C>T, NM_016365.1:c.2384C>T, NP_006384.1:p.Thr798Ile, NP_998734.1:p.Thr135Ile, NP_001166955.1:p.Thr135Ile, NP_001364253.1:p.Thr116Ile, NP_001364251.1:p.Thr135Ile, NP_001364252.1:p.Thr119Ile, NP_001364254.1:p.Thr113Ile, NP_001364257.1:p.Thr99Ile, NP_001364256.1:p.Thr99Ile, NP_001364255.1:p.Thr99Ile, XP_005252399.1:p.Thr764Ile, XP_005252400.1:p.Thr798Ile, XP_011517593.1:p.Thr782Ile, XP_047280399.1:p.Thr782Ile, XP_047280400.1:p.Thr135Ile

Select item 143789258417.

rs1437892584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:21020174 (GRCh38)
10:21309103 (GRCh37)
Canonical SPDI:: NC_000010.11:21020173:C:T
Gene:: NEBL (Varview), LOC124902389 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.21020174C>T, NC_000010.10:g.21309103C>T, NG_017092.1:g.159014G>A, NM_213569.2:c.192G>A, NM_001173484.2:c.192G>A, NM_001173484.1:c.192G>A, NM_001377324.1:c.135G>A, NM_001377322.1:c.192G>A, NM_001377323.1:c.144G>A, NM_001377325.1:c.126G>A, NM_001377328.1:c.84G>A, NM_001377327.1:c.84G>A, NM_001377326.1:c.84G>A, XM_047424444.1:c.192G>A

Select item 143089808418.

rs1430898084 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:21020145 (GRCh38)
10:21309074 (GRCh37)
Canonical SPDI:: NC_000010.11:21020144:A:G
Gene:: NEBL (Varview), LOC124902389 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.21020145A>G, NC_000010.10:g.21309074A>G, NG_017092.1:g.159043T>C, NM_213569.2:c.221T>C, NM_001173484.2:c.221T>C, NM_001173484.1:c.221T>C, NM_001377324.1:c.164T>C, NM_001377322.1:c.221T>C, NM_001377323.1:c.173T>C, NM_001377325.1:c.155T>C, NM_001377328.1:c.113T>C, NM_001377327.1:c.113T>C, NM_001377326.1:c.113T>C, XM_047424444.1:c.221T>C, NP_998734.1:p.Leu74Pro, NP_001166955.1:p.Leu74Pro, NP_001364253.1:p.Leu55Pro, NP_001364251.1:p.Leu74Pro, NP_001364252.1:p.Leu58Pro, NP_001364254.1:p.Leu52Pro, NP_001364257.1:p.Leu38Pro, NP_001364256.1:p.Leu38Pro, NP_001364255.1:p.Leu38Pro, XP_047280400.1:p.Leu74Pro

Select item 142167911719.

rs1421679117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:21173822 (GRCh38)
10:21462751 (GRCh37)
Canonical SPDI:: NC_000010.11:21173821:C:T
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.21173822C>T, NC_000010.10:g.21462751C>T, NG_017092.1:g.5366G>A, NM_213569.2:c.12G>A, NM_001173484.2:c.12G>A, NM_001173484.1:c.12G>A, NM_001377324.1:c.-147G>A, NM_001377322.1:c.12G>A, XM_047424444.1:c.12G>A

Select item 141784514120.

rs1417845141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:21172434 (GRCh38)
10:21461363 (GRCh37)
Canonical SPDI:: NC_000010.11:21172433:G:A
Gene:: NEBL (Varview), NEBL-AS1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.21172434G>A, NC_000010.10:g.21461363G>A, NG_017092.1:g.6754C>T, NM_213569.2:c.113C>T, NM_001173484.2:c.113C>T, NM_001173484.1:c.113C>T, NM_001377324.1:c.56C>T, NM_001377322.1:c.113C>T, NM_001377323.1:c.65C>T, NM_001377325.1:c.47C>T, NM_001377328.1:c.5C>T, NM_001377327.1:c.5C>T, NM_001377326.1:c.5C>T, XM_047424444.1:c.113C>T, NP_998734.1:p.Ala38Val, NP_001166955.1:p.Ala38Val, NP_001364253.1:p.Ala19Val, NP_001364251.1:p.Ala38Val, NP_001364252.1:p.Ala22Val, NP_001364254.1:p.Ala16Val, NP_001364257.1:p.Ala2Val, NP_001364256.1:p.Ala2Val, NP_001364255.1:p.Ala2Val, XP_047280400.1:p.Ala38Val

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Result Filters

Clinical Significance

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Items: 1 to 20 of 242

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