SNP Links for Protein (Select 767981903) - SNP

Select item 14907982831.

rs1490798283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:49851615 (GRCh38)
14:50318333 (GRCh37)
Canonical SPDI:: NC_000014.9:49851614:G:C
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49851615G>C, NC_000014.8:g.50318333G>C, NG_051075.1:g.6589C>G, NM_004713.6:c.179C>G, NM_004713.5:c.179C>G, NM_004713.4:c.179C>G, NM_004713.3:c.179C>G, NM_001301732.3:c.179C>G, NM_001301732.2:c.179C>G, NM_001301732.1:c.179C>G, XM_011537318.4:c.179C>G, XM_011537318.3:c.179C>G, XM_011537318.2:c.179C>G, XM_011537318.1:c.179C>G, XR_943557.4:n.214C>G, XR_943557.3:n.262C>G, XR_943557.2:n.471C>G, XR_943557.1:n.471C>G, XM_011537317.4:c.179C>G, XM_011537317.3:c.179C>G, XM_011537317.2:c.179C>G, XM_011537317.1:c.179C>G, XM_047431911.1:c.179C>G, NP_004704.3:p.Thr60Arg, NP_001288661.2:p.Thr60Arg, XP_011535620.1:p.Thr60Arg, XP_011535619.1:p.Thr60Arg, XP_047287867.1:p.Thr60Arg

Select item 14895527382.

rs1489552738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:49832245 (GRCh38)
14:50298963 (GRCh37)
Canonical SPDI:: NC_000014.9:49832244:T:C
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49832245T>C, NC_000014.8:g.50298963T>C, NG_051075.1:g.25959A>G, NM_004713.6:c.768A>G, NM_004713.5:c.768A>G, NM_004713.4:c.768A>G, NM_004713.3:c.768A>G, NM_001301732.3:c.768A>G, NM_001301732.2:c.768A>G, NM_001301732.1:c.768A>G, XM_011537318.4:c.768A>G, XM_011537318.3:c.768A>G, XM_011537318.2:c.768A>G, XM_011537318.1:c.768A>G, XR_943557.4:n.803A>G, XR_943557.3:n.851A>G, XR_943557.2:n.1060A>G, XR_943557.1:n.1060A>G, XM_011537317.4:c.768A>G, XM_011537317.3:c.768A>G, XM_011537317.2:c.768A>G, XM_011537317.1:c.768A>G, XM_017021761.2:c.81A>G, XM_017021761.1:c.81A>G, XM_047431912.1:c.81A>G, XM_047431911.1:c.768A>G

Select item 14864746353.

rs1486474635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49828768 (GRCh38)
14:50295486 (GRCh37)
Canonical SPDI:: NC_000014.9:49828767:A:G
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000014.9:g.49828768A>G, NC_000014.8:g.50295486A>G, NG_051075.1:g.29436T>C, NM_004713.6:c.1272T>C, NM_004713.5:c.1272T>C, NM_004713.4:c.1272T>C, NM_004713.3:c.1272T>C, NM_001301732.3:c.1272T>C, NM_001301732.2:c.1272T>C, NM_001301732.1:c.1272T>C, XM_011537318.4:c.1272T>C, XM_011537318.3:c.1272T>C, XM_011537318.2:c.1272T>C, XM_011537318.1:c.1272T>C, XR_943557.4:n.1307T>C, XR_943557.3:n.1355T>C, XR_943557.2:n.1564T>C, XR_943557.1:n.1564T>C, XM_011537317.4:c.1272T>C, XM_011537317.3:c.1272T>C, XM_011537317.2:c.1272T>C, XM_011537317.1:c.1272T>C, XM_017021761.2:c.585T>C, XM_017021761.1:c.585T>C, XM_047431912.1:c.585T>C, XM_047431911.1:c.1272T>C

Select item 14822521034.

rs1482252103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49833493 (GRCh38)
14:50300211 (GRCh37)
Canonical SPDI:: NC_000014.9:49833492:A:G
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49833493A>G, NC_000014.8:g.50300211A>G, NG_051075.1:g.24711T>C, NM_004713.6:c.665T>C, NM_004713.5:c.665T>C, NM_004713.4:c.665T>C, NM_004713.3:c.665T>C, NM_001301732.3:c.665T>C, NM_001301732.2:c.665T>C, NM_001301732.1:c.665T>C, XM_011537318.4:c.665T>C, XM_011537318.3:c.665T>C, XM_011537318.2:c.665T>C, XM_011537318.1:c.665T>C, XR_943557.4:n.700T>C, XR_943557.3:n.748T>C, XR_943557.2:n.957T>C, XR_943557.1:n.957T>C, XM_011537317.4:c.665T>C, XM_011537317.3:c.665T>C, XM_011537317.2:c.665T>C, XM_011537317.1:c.665T>C, XM_047431911.1:c.665T>C, NP_004704.3:p.Ile222Thr, NP_001288661.2:p.Ile222Thr, XP_011535620.1:p.Ile222Thr, XP_011535619.1:p.Ile222Thr, XP_047287867.1:p.Ile222Thr

Select item 14782430575.

rs1478243057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:49846237 (GRCh38)
14:50312955 (GRCh37)
Canonical SPDI:: NC_000014.9:49846236:A:C
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.49846237A>C, NC_000014.8:g.50312955A>C, NG_051075.1:g.11967T>G, NM_004713.6:c.260T>G, NM_004713.5:c.260T>G, NM_004713.4:c.260T>G, NM_004713.3:c.260T>G, NM_001301732.3:c.260T>G, NM_001301732.2:c.260T>G, NM_001301732.1:c.260T>G, XM_011537318.4:c.260T>G, XM_011537318.3:c.260T>G, XM_011537318.2:c.260T>G, XM_011537318.1:c.260T>G, XR_943557.4:n.295T>G, XR_943557.3:n.343T>G, XR_943557.2:n.552T>G, XR_943557.1:n.552T>G, XM_011537317.4:c.260T>G, XM_011537317.3:c.260T>G, XM_011537317.2:c.260T>G, XM_011537317.1:c.260T>G, XM_047431911.1:c.260T>G, NP_004704.3:p.Leu87Ter, NP_001288661.2:p.Leu87Ter, XP_011535620.1:p.Leu87Ter, XP_011535619.1:p.Leu87Ter, XP_047287867.1:p.Leu87Ter

Select item 14778350526.

rs1477835052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:49851637 (GRCh38)
14:50318355 (GRCh37)
Canonical SPDI:: NC_000014.9:49851636:C:G
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49851637C>G, NC_000014.8:g.50318355C>G, NG_051075.1:g.6567G>C, NM_004713.6:c.157G>C, NM_004713.5:c.157G>C, NM_004713.4:c.157G>C, NM_004713.3:c.157G>C, NM_001301732.3:c.157G>C, NM_001301732.2:c.157G>C, NM_001301732.1:c.157G>C, XM_011537318.4:c.157G>C, XM_011537318.3:c.157G>C, XM_011537318.2:c.157G>C, XM_011537318.1:c.157G>C, XR_943557.4:n.192G>C, XR_943557.3:n.240G>C, XR_943557.2:n.449G>C, XR_943557.1:n.449G>C, XM_011537317.4:c.157G>C, XM_011537317.3:c.157G>C, XM_011537317.2:c.157G>C, XM_011537317.1:c.157G>C, XM_047431911.1:c.157G>C, NP_004704.3:p.Glu53Gln, NP_001288661.2:p.Glu53Gln, XP_011535620.1:p.Glu53Gln, XP_011535619.1:p.Glu53Gln, XP_047287867.1:p.Glu53Gln

Select item 14771798887.

rs1477179888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49846254 (GRCh38)
14:50312972 (GRCh37)
Canonical SPDI:: NC_000014.9:49846253:A:G
Gene:: NEMF (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.49846254A>G, NC_000014.8:g.50312972A>G, NG_051075.1:g.11950T>C, NM_004713.6:c.243T>C, NM_004713.5:c.243T>C, NM_004713.4:c.243T>C, NM_004713.3:c.243T>C, NM_001301732.3:c.243T>C, NM_001301732.2:c.243T>C, NM_001301732.1:c.243T>C, XM_011537318.4:c.243T>C, XM_011537318.3:c.243T>C, XM_011537318.2:c.243T>C, XM_011537318.1:c.243T>C, XR_943557.4:n.278T>C, XR_943557.3:n.326T>C, XR_943557.2:n.535T>C, XR_943557.1:n.535T>C, XM_011537317.4:c.243T>C, XM_011537317.3:c.243T>C, XM_011537317.2:c.243T>C, XM_011537317.1:c.243T>C, XM_047431911.1:c.243T>C

Select item 14762602838.

rs1476260283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:49840770 (GRCh38)
14:50307488 (GRCh37)
Canonical SPDI:: NC_000014.9:49840769:G:A
Gene:: NEMF (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.49840770G>A, NC_000014.8:g.50307488G>A, NG_051075.1:g.17434C>T, NM_004713.6:c.454C>T, NM_004713.5:c.454C>T, NM_004713.4:c.454C>T, NM_004713.3:c.454C>T, NM_001301732.3:c.454C>T, NM_001301732.2:c.454C>T, NM_001301732.1:c.454C>T, XM_011537318.4:c.454C>T, XM_011537318.3:c.454C>T, XM_011537318.2:c.454C>T, XM_011537318.1:c.454C>T, XR_943557.4:n.489C>T, XR_943557.3:n.537C>T, XR_943557.2:n.746C>T, XR_943557.1:n.746C>T, XM_011537317.4:c.454C>T, XM_011537317.3:c.454C>T, XM_011537317.2:c.454C>T, XM_011537317.1:c.454C>T, XM_047431911.1:c.454C>T, NP_004704.3:p.Arg152Cys, NP_001288661.2:p.Arg152Cys, XP_011535620.1:p.Arg152Cys, XP_011535619.1:p.Arg152Cys, XP_047287867.1:p.Arg152Cys

Select item 14743726599.

rs1474372659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:49828620 (GRCh38)
14:50295338 (GRCh37)
Canonical SPDI:: NC_000014.9:49828619:T:C
Gene:: NEMF (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.49828620T>C, NC_000014.8:g.50295338T>C, NG_051075.1:g.29584A>G, NM_004713.6:c.1420A>G, NM_004713.5:c.1420A>G, NM_004713.4:c.1420A>G, NM_004713.3:c.1420A>G, NM_001301732.3:c.1420A>G, NM_001301732.2:c.1420A>G, NM_001301732.1:c.1420A>G, XM_011537318.4:c.1420A>G, XM_011537318.3:c.1420A>G, XM_011537318.2:c.1420A>G, XM_011537318.1:c.1420A>G, XR_943557.4:n.1455A>G, XR_943557.3:n.1503A>G, XR_943557.2:n.1712A>G, XR_943557.1:n.1712A>G, XM_011537317.4:c.1420A>G, XM_011537317.3:c.1420A>G, XM_011537317.2:c.1420A>G, XM_011537317.1:c.1420A>G, XM_017021761.2:c.733A>G, XM_017021761.1:c.733A>G, XM_047431912.1:c.733A>G, XM_047431911.1:c.1420A>G, NP_004704.3:p.Lys474Glu, NP_001288661.2:p.Lys474Glu, XP_011535620.1:p.Lys474Glu, XP_011535619.1:p.Lys474Glu, XP_016877250.1:p.Lys245Glu, XP_047287868.1:p.Lys245Glu, XP_047287867.1:p.Lys474Glu

Select item 147360225310.

rs1473602253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:49814799 (GRCh38)
14:50281517 (GRCh37)
Canonical SPDI:: NC_000014.9:49814798:C:T
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49814799C>T, NC_000014.8:g.50281517C>T, NG_051075.1:g.43405G>A, NM_004713.6:c.1636G>A, NM_004713.5:c.1636G>A, NM_004713.4:c.1636G>A, NM_004713.3:c.1636G>A, NM_001301732.3:c.1636G>A, NM_001301732.2:c.1636G>A, NM_001301732.1:c.1636G>A, XR_943557.4:n.1671G>A, XR_943557.3:n.1719G>A, XR_943557.2:n.1928G>A, XR_943557.1:n.1928G>A, XM_011537317.4:c.1636G>A, XM_011537317.3:c.1636G>A, XM_011537317.2:c.1636G>A, XM_011537317.1:c.1636G>A, XM_017021761.2:c.949G>A, XM_017021761.1:c.949G>A, XM_047431912.1:c.949G>A, XM_047431911.1:c.1636G>A, NP_004704.3:p.Asp546Asn, NP_001288661.2:p.Asp546Asn, XP_011535619.1:p.Asp546Asn, XP_016877250.1:p.Asp317Asn, XP_047287868.1:p.Asp317Asn, XP_047287867.1:p.Asp546Asn

Select item 147280223911.

rs1472802239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49829258 (GRCh38)
14:50295976 (GRCh37)
Canonical SPDI:: NC_000014.9:49829257:A:G
Gene:: NEMF (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.49829258A>G, NC_000014.8:g.50295976A>G, NG_051075.1:g.28946T>C, NM_004713.6:c.1028T>C, NM_004713.5:c.1028T>C, NM_004713.4:c.1028T>C, NM_004713.3:c.1028T>C, NM_001301732.3:c.1028T>C, NM_001301732.2:c.1028T>C, NM_001301732.1:c.1028T>C, XM_011537318.4:c.1028T>C, XM_011537318.3:c.1028T>C, XM_011537318.2:c.1028T>C, XM_011537318.1:c.1028T>C, XR_943557.4:n.1063T>C, XR_943557.3:n.1111T>C, XR_943557.2:n.1320T>C, XR_943557.1:n.1320T>C, XM_011537317.4:c.1028T>C, XM_011537317.3:c.1028T>C, XM_011537317.2:c.1028T>C, XM_011537317.1:c.1028T>C, XM_017021761.2:c.341T>C, XM_017021761.1:c.341T>C, XM_047431912.1:c.341T>C, XM_047431911.1:c.1028T>C, NP_004704.3:p.Ile343Thr, NP_001288661.2:p.Ile343Thr, XP_011535620.1:p.Ile343Thr, XP_011535619.1:p.Ile343Thr, XP_016877250.1:p.Ile114Thr, XP_047287868.1:p.Ile114Thr, XP_047287867.1:p.Ile343Thr

Select item 146882695112.

rs1468826951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49828624 (GRCh38)
14:50295342 (GRCh37)
Canonical SPDI:: NC_000014.9:49828623:A:G
Gene:: NEMF (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49828624A>G, NC_000014.8:g.50295342A>G, NG_051075.1:g.29580T>C, NM_004713.6:c.1416T>C, NM_004713.5:c.1416T>C, NM_004713.4:c.1416T>C, NM_004713.3:c.1416T>C, NM_001301732.3:c.1416T>C, NM_001301732.2:c.1416T>C, NM_001301732.1:c.1416T>C, XM_011537318.4:c.1416T>C, XM_011537318.3:c.1416T>C, XM_011537318.2:c.1416T>C, XM_011537318.1:c.1416T>C, XR_943557.4:n.1451T>C, XR_943557.3:n.1499T>C, XR_943557.2:n.1708T>C, XR_943557.1:n.1708T>C, XM_011537317.4:c.1416T>C, XM_011537317.3:c.1416T>C, XM_011537317.2:c.1416T>C, XM_011537317.1:c.1416T>C, XM_017021761.2:c.729T>C, XM_017021761.1:c.729T>C, XM_047431912.1:c.729T>C, XM_047431911.1:c.1416T>C

Select item 146719525613.

rs1467195256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:49829225 (GRCh38)
14:50295943 (GRCh37)
Canonical SPDI:: NC_000014.9:49829224:T:A
Gene:: NEMF (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_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_000014.9:g.49829225T>A, NC_000014.8:g.50295943T>A, NG_051075.1:g.28979A>T, NM_004713.6:c.1061A>T, NM_004713.5:c.1061A>T, NM_004713.4:c.1061A>T, NM_004713.3:c.1061A>T, NM_001301732.3:c.1061A>T, NM_001301732.2:c.1061A>T, NM_001301732.1:c.1061A>T, XM_011537318.4:c.1061A>T, XM_011537318.3:c.1061A>T, XM_011537318.2:c.1061A>T, XM_011537318.1:c.1061A>T, XR_943557.4:n.1096A>T, XR_943557.3:n.1144A>T, XR_943557.2:n.1353A>T, XR_943557.1:n.1353A>T, XM_011537317.4:c.1061A>T, XM_011537317.3:c.1061A>T, XM_011537317.2:c.1061A>T, XM_011537317.1:c.1061A>T, XM_017021761.2:c.374A>T, XM_017021761.1:c.374A>T, XM_047431912.1:c.374A>T, XM_047431911.1:c.1061A>T, NP_004704.3:p.Asn354Ile, NP_001288661.2:p.Asn354Ile, XP_011535620.1:p.Asn354Ile, XP_011535619.1:p.Asn354Ile, XP_016877250.1:p.Asn125Ile, XP_047287868.1:p.Asn125Ile, XP_047287867.1:p.Asn354Ile

Select item 146418323814.

rs1464183238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:49840746 (GRCh38)
14:50307464 (GRCh37)
Canonical SPDI:: NC_000014.9:49840745:C:G,NC_000014.9:49840745:C:T
Gene:: NEMF (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000014.9:g.49840746C>G, NC_000014.9:g.49840746C>T, NC_000014.8:g.50307464C>G, NC_000014.8:g.50307464C>T, NG_051075.1:g.17458G>C, NG_051075.1:g.17458G>A, NM_004713.6:c.478G>C, NM_004713.6:c.478G>A, NM_004713.5:c.478G>C, NM_004713.5:c.478G>A, NM_004713.4:c.478G>C, NM_004713.4:c.478G>A, NM_004713.3:c.478G>C, NM_004713.3:c.478G>A, NM_001301732.3:c.478G>C, NM_001301732.3:c.478G>A, NM_001301732.2:c.478G>C, NM_001301732.2:c.478G>A, NM_001301732.1:c.478G>C, NM_001301732.1:c.478G>A, XM_011537318.4:c.478G>C, XM_011537318.4:c.478G>A, XM_011537318.3:c.478G>C, XM_011537318.3:c.478G>A, XM_011537318.2:c.478G>C, XM_011537318.2:c.478G>A, XM_011537318.1:c.478G>C, XM_011537318.1:c.478G>A, XR_943557.4:n.513G>C, XR_943557.4:n.513G>A, XR_943557.3:n.561G>C, XR_943557.3:n.561G>A, XR_943557.2:n.770G>C, XR_943557.2:n.770G>A, XR_943557.1:n.770G>C, XR_943557.1:n.770G>A, XM_011537317.4:c.478G>C, XM_011537317.4:c.478G>A, XM_011537317.3:c.478G>C, XM_011537317.3:c.478G>A, XM_011537317.2:c.478G>C, XM_011537317.2:c.478G>A, XM_011537317.1:c.478G>C, XM_011537317.1:c.478G>A, XM_047431911.1:c.478G>C, XM_047431911.1:c.478G>A, NP_004704.3:p.Ala160Pro, NP_004704.3:p.Ala160Thr, NP_001288661.2:p.Ala160Pro, NP_001288661.2:p.Ala160Thr, XP_011535620.1:p.Ala160Pro, XP_011535620.1:p.Ala160Thr, XP_011535619.1:p.Ala160Pro, XP_011535619.1:p.Ala160Thr, XP_047287867.1:p.Ala160Pro, XP_047287867.1:p.Ala160Thr

Select item 146336490715.

rs1463364907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:49833438 (GRCh38)
14:50300156 (GRCh37)
Canonical SPDI:: NC_000014.9:49833437:G:A
Gene:: NEMF (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000014.9:g.49833438G>A, NC_000014.8:g.50300156G>A, NG_051075.1:g.24766C>T, NM_004713.6:c.720C>T, NM_004713.5:c.720C>T, NM_004713.4:c.720C>T, NM_004713.3:c.720C>T, NM_001301732.3:c.720C>T, NM_001301732.2:c.720C>T, NM_001301732.1:c.720C>T, XM_011537318.4:c.720C>T, XM_011537318.3:c.720C>T, XM_011537318.2:c.720C>T, XM_011537318.1:c.720C>T, XR_943557.4:n.755C>T, XR_943557.3:n.803C>T, XR_943557.2:n.1012C>T, XR_943557.1:n.1012C>T, XM_011537317.4:c.720C>T, XM_011537317.3:c.720C>T, XM_011537317.2:c.720C>T, XM_011537317.1:c.720C>T, XM_047431911.1:c.720C>T

Select item 146236816216.

rs1462368162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:49828655 (GRCh38)
14:50295373 (GRCh37)
Canonical SPDI:: NC_000014.9:49828654:T:G
Gene:: NEMF (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49828655T>G, NC_000014.8:g.50295373T>G, NG_051075.1:g.29549A>C, NM_004713.6:c.1385A>C, NM_004713.5:c.1385A>C, NM_004713.4:c.1385A>C, NM_004713.3:c.1385A>C, NM_001301732.3:c.1385A>C, NM_001301732.2:c.1385A>C, NM_001301732.1:c.1385A>C, XM_011537318.4:c.1385A>C, XM_011537318.3:c.1385A>C, XM_011537318.2:c.1385A>C, XM_011537318.1:c.1385A>C, XR_943557.4:n.1420A>C, XR_943557.3:n.1468A>C, XR_943557.2:n.1677A>C, XR_943557.1:n.1677A>C, XM_011537317.4:c.1385A>C, XM_011537317.3:c.1385A>C, XM_011537317.2:c.1385A>C, XM_011537317.1:c.1385A>C, XM_017021761.2:c.698A>C, XM_017021761.1:c.698A>C, XM_047431912.1:c.698A>C, XM_047431911.1:c.1385A>C, NP_004704.3:p.Asp462Ala, NP_001288661.2:p.Asp462Ala, XP_011535620.1:p.Asp462Ala, XP_011535619.1:p.Asp462Ala, XP_016877250.1:p.Asp233Ala, XP_047287868.1:p.Asp233Ala, XP_047287867.1:p.Asp462Ala

Select item 145607487317.

rs1456074873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:49840741 (GRCh38)
14:50307459 (GRCh37)
Canonical SPDI:: NC_000014.9:49840740:A:C
Gene:: NEMF (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49840741A>C, NC_000014.8:g.50307459A>C, NG_051075.1:g.17463T>G, NM_004713.6:c.483T>G, NM_004713.5:c.483T>G, NM_004713.4:c.483T>G, NM_004713.3:c.483T>G, NM_001301732.3:c.483T>G, NM_001301732.2:c.483T>G, NM_001301732.1:c.483T>G, XM_011537318.4:c.483T>G, XM_011537318.3:c.483T>G, XM_011537318.2:c.483T>G, XM_011537318.1:c.483T>G, XR_943557.4:n.518T>G, XR_943557.3:n.566T>G, XR_943557.2:n.775T>G, XR_943557.1:n.775T>G, XM_011537317.4:c.483T>G, XM_011537317.3:c.483T>G, XM_011537317.2:c.483T>G, XM_011537317.1:c.483T>G, XM_047431911.1:c.483T>G

Select item 145062914718.

rs1450629147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:49831323 (GRCh38)
14:50298041 (GRCh37)
Canonical SPDI:: NC_000014.9:49831322:T:C
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49831323T>C, NC_000014.8:g.50298041T>C, NG_051075.1:g.26881A>G, NM_004713.6:c.921A>G, NM_004713.5:c.921A>G, NM_004713.4:c.921A>G, NM_004713.3:c.921A>G, NM_001301732.3:c.921A>G, NM_001301732.2:c.921A>G, NM_001301732.1:c.921A>G, XM_011537318.4:c.921A>G, XM_011537318.3:c.921A>G, XM_011537318.2:c.921A>G, XM_011537318.1:c.921A>G, XR_943557.4:n.956A>G, XR_943557.3:n.1004A>G, XR_943557.2:n.1213A>G, XR_943557.1:n.1213A>G, XM_011537317.4:c.921A>G, XM_011537317.3:c.921A>G, XM_011537317.2:c.921A>G, XM_011537317.1:c.921A>G, XM_017021761.2:c.234A>G, XM_017021761.1:c.234A>G, XM_047431912.1:c.234A>G, XM_047431911.1:c.921A>G

Select item 144964282919.

rs1449642829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:49846248 (GRCh38)
14:50312966 (GRCh37)
Canonical SPDI:: NC_000014.9:49846247:C:A
Gene:: NEMF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.49846248C>A, NC_000014.8:g.50312966C>A, NG_051075.1:g.11956G>T, NM_004713.6:c.249G>T, NM_004713.5:c.249G>T, NM_004713.4:c.249G>T, NM_004713.3:c.249G>T, NM_001301732.3:c.249G>T, NM_001301732.2:c.249G>T, NM_001301732.1:c.249G>T, XM_011537318.4:c.249G>T, XM_011537318.3:c.249G>T, XM_011537318.2:c.249G>T, XM_011537318.1:c.249G>T, XR_943557.4:n.284G>T, XR_943557.3:n.332G>T, XR_943557.2:n.541G>T, XR_943557.1:n.541G>T, XM_011537317.4:c.249G>T, XM_011537317.3:c.249G>T, XM_011537317.2:c.249G>T, XM_011537317.1:c.249G>T, XM_047431911.1:c.249G>T, NP_004704.3:p.Lys83Asn, NP_001288661.2:p.Lys83Asn, XP_011535620.1:p.Lys83Asn, XP_011535619.1:p.Lys83Asn, XP_047287867.1:p.Lys83Asn

Select item 144635414120.

rs1446354141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:49829358 (GRCh38)
14:50296076 (GRCh37)
Canonical SPDI:: NC_000014.9:49829357:C:G
Gene:: NEMF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49829358C>G, NC_000014.8:g.50296076C>G, NG_051075.1:g.28846G>C, NM_004713.6:c.1014G>C, NM_004713.5:c.1014G>C, NM_004713.4:c.1014G>C, NM_004713.3:c.1014G>C, NM_001301732.3:c.1014G>C, NM_001301732.2:c.1014G>C, NM_001301732.1:c.1014G>C, XM_011537318.4:c.1014G>C, XM_011537318.3:c.1014G>C, XM_011537318.2:c.1014G>C, XM_011537318.1:c.1014G>C, XR_943557.4:n.1049G>C, XR_943557.3:n.1097G>C, XR_943557.2:n.1306G>C, XR_943557.1:n.1306G>C, XM_011537317.4:c.1014G>C, XM_011537317.3:c.1014G>C, XM_011537317.2:c.1014G>C, XM_011537317.1:c.1014G>C, XM_017021761.2:c.327G>C, XM_017021761.1:c.327G>C, XM_047431912.1:c.327G>C, XM_047431911.1:c.1014G>C, NP_004704.3:p.Gln338His, NP_001288661.2:p.Gln338His, XP_011535620.1:p.Gln338His, XP_011535619.1:p.Gln338His, XP_016877250.1:p.Gln109His, XP_047287868.1:p.Gln109His, XP_047287867.1:p.Gln338His

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 502

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 502

Page of 26

Page of 26

Display Settings:

Supplemental Content

Find related data

Recent activity