SNP Links for Protein (Select 557636736) - SNP

Links from Protein

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Select item 14903507421.

rs1490350742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:2262754 (GRCh38)
16:2312755 (GRCh37)
Canonical SPDI:: NC_000016.10:2262753:G:A,NC_000016.10:2262753:G:T
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2262754G>A, NC_000016.10:g.2262754G>T, NC_000016.9:g.2312755G>A, NC_000016.9:g.2312755G>T, XM_005255049.5:c.508C>T, XM_005255049.5:c.508C>A, XM_005255049.4:c.508C>T, XM_005255049.4:c.508C>A, XM_005255049.3:c.508C>T, XM_005255049.3:c.508C>A, XM_005255049.2:c.508C>T, XM_005255049.2:c.508C>A, XM_005255049.1:c.508C>T, XM_005255049.1:c.508C>A, NM_006711.5:c.508C>T, NM_006711.5:c.508C>A, NM_006711.4:c.508C>T, NM_006711.4:c.508C>A, NM_006711.3:c.508C>T, NM_006711.3:c.508C>A, NM_080594.4:c.508C>T, NM_080594.4:c.508C>A, NM_080594.3:c.508C>T, NM_080594.3:c.508C>A, NM_080594.2:c.508C>T, NM_080594.2:c.508C>A, XM_005255048.3:c.508C>T, XM_005255048.3:c.508C>A, XM_005255048.2:c.508C>T, XM_005255048.2:c.508C>A, XM_005255048.1:c.508C>T, XM_005255048.1:c.508C>A, NR_104485.2:n.631C>T, NR_104485.2:n.631C>A, NR_104485.1:n.917C>T, NR_104485.1:n.917C>A, NM_001286626.2:c.439C>T, NM_001286626.2:c.439C>A, NM_001286626.1:c.439C>T, NM_001286626.1:c.439C>A, NM_001286627.2:c.439C>T, NM_001286627.2:c.439C>A, NM_001286627.1:c.439C>T, NM_001286627.1:c.439C>A, XM_047433516.1:c.508C>T, XM_047433516.1:c.508C>A, NM_001286625.1:c.508C>T, NM_001286625.1:c.508C>A, XP_005255106.1:p.Arg170Trp, NP_006702.1:p.Arg170Trp, NP_542161.1:p.Arg170Trp, XP_005255105.1:p.Arg170Trp, NP_001273555.1:p.Arg147Trp, NP_001273556.1:p.Arg147Trp, XP_047289472.1:p.Arg170Trp, NP_001273554.1:p.Arg170Trp

Select item 14882377722.

rs1488237772 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAC [Show Flanks]
Chromosome:: 16:2254039 (GRCh38)
16:2304041 (GRCh37)
Canonical SPDI:: NC_000016.10:2254039:GAC:GACGAC
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GACGAC=0./0 (ALFA)
GAC=0.000007/1 (GnomAD)
GAC=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.2254040_2254042dup, NC_000016.9:g.2304041_2304043dup, NG_047046.1:g.2560_2562dup, XM_005255049.5:c.840_842dup, XM_005255049.4:c.840_842dup, XM_005255049.3:c.840_842dup, XM_005255049.2:c.840_842dup, XM_005255049.1:c.840_842dup, NM_006711.5:c.840_842dup, NM_006711.4:c.840_842dup, NM_006711.3:c.840_842dup, NM_080594.4:c.840_842dup, NM_080594.3:c.840_842dup, NM_080594.2:c.840_842dup, XM_005255048.3:c.840_842dup, XM_005255048.2:c.840_842dup, XM_005255048.1:c.840_842dup, NR_104485.2:n.963_965dup, NR_104485.1:n.1249_1251dup, NM_001286626.2:c.771_773dup, NM_001286626.1:c.771_773dup, NM_001286627.2:c.629_631dup, NM_001286627.1:c.629_631dup, XM_047433516.1:c.840_842dup, NM_001286625.1:c.840_842dup, XP_005255106.1:p.Ser281dup, NP_006702.1:p.Ser281dup, NP_542161.1:p.Ser281dup, XP_005255105.1:p.Ser281dup, NP_001273555.1:p.Ser258dup, NP_001273556.1:p.Pro211_Pro212insArg, XP_047289472.1:p.Ser281dup, NP_001273554.1:p.Ser281dup

Select item 14870178743.

rs1487017874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2255683 (GRCh38)
16:2305684 (GRCh37)
Canonical SPDI:: NC_000016.10:2255682:G:A
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2255683G>A, NC_000016.9:g.2305684G>A, NG_047046.1:g.919C>T, XM_005255049.5:c.720C>T, XM_005255049.4:c.720C>T, XM_005255049.3:c.720C>T, XM_005255049.2:c.720C>T, XM_005255049.1:c.720C>T, NM_006711.5:c.720C>T, NM_006711.4:c.720C>T, NM_006711.3:c.720C>T, NM_080594.4:c.720C>T, NM_080594.3:c.720C>T, NM_080594.2:c.720C>T, XM_005255048.3:c.720C>T, XM_005255048.2:c.720C>T, XM_005255048.1:c.720C>T, NR_104485.2:n.843C>T, NR_104485.1:n.1129C>T, NM_001286626.2:c.651C>T, NM_001286626.1:c.651C>T, XM_047433516.1:c.720C>T, NM_001286625.1:c.720C>T

Select item 14811087954.

rs1481108795 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCTGAGCTGGA>- [Show Flanks]
Chromosome:: 16:2263257 (GRCh38)
16:2313258 (GRCh37)
Canonical SPDI:: NC_000016.10:2263250:GCTGGAGCCTGAGCTGGA:GCTGGA
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
HGVS:: NC_000016.10:g.2263257_2263268del, NC_000016.9:g.2313258_2313269del, XM_005255049.5:c.253_264del, XM_005255049.4:c.253_264del, XM_005255049.3:c.253_264del, XM_005255049.2:c.253_264del, XM_005255049.1:c.253_264del, NM_006711.5:c.253_264del, NM_006711.4:c.253_264del, NM_006711.3:c.253_264del, NM_080594.4:c.253_264del, NM_080594.3:c.253_264del, NM_080594.2:c.253_264del, XM_005255048.3:c.253_264del, XM_005255048.2:c.253_264del, XM_005255048.1:c.253_264del, NR_104485.2:n.376_387del, NR_104485.1:n.662_673del, NM_001286626.2:c.184_195del, NM_001286626.1:c.184_195del, NM_001286627.2:c.184_195del, NM_001286627.1:c.184_195del, XM_047433516.1:c.253_264del, NM_001286625.1:c.253_264del, XP_005255106.1:p.Ser85_Ser88del, NP_006702.1:p.Ser85_Ser88del, NP_542161.1:p.Ser85_Ser88del, XP_005255105.1:p.Ser85_Ser88del, NP_001273555.1:p.Ser62_Ser65del, NP_001273556.1:p.Ser62_Ser65del, XP_047289472.1:p.Ser85_Ser88del, NP_001273554.1:p.Ser85_Ser88del

Select item 14803805115.

rs1480380511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2263266 (GRCh38)
16:2313267 (GRCh37)
Canonical SPDI:: NC_000016.10:2263265:G:C
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2263266G>C, NC_000016.9:g.2313267G>C, XM_005255049.5:c.249C>G, XM_005255049.4:c.249C>G, XM_005255049.3:c.249C>G, XM_005255049.2:c.249C>G, XM_005255049.1:c.249C>G, NM_006711.5:c.249C>G, NM_006711.4:c.249C>G, NM_006711.3:c.249C>G, NM_080594.4:c.249C>G, NM_080594.3:c.249C>G, NM_080594.2:c.249C>G, XM_005255048.3:c.249C>G, XM_005255048.2:c.249C>G, XM_005255048.1:c.249C>G, NR_104485.2:n.372C>G, NR_104485.1:n.658C>G, NM_001286626.2:c.180C>G, NM_001286626.1:c.180C>G, NM_001286627.2:c.180C>G, NM_001286627.1:c.180C>G, XM_047433516.1:c.249C>G, NM_001286625.1:c.249C>G

Select item 14792721546.

rs1479272154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:2264254 (GRCh38)
16:2314255 (GRCh37)
Canonical SPDI:: NC_000016.10:2264253:T:A
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2264254T>A, NC_000016.9:g.2314255T>A, XM_005255049.5:c.149A>T, XM_005255049.4:c.149A>T, XM_005255049.3:c.149A>T, XM_005255049.2:c.149A>T, XM_005255049.1:c.149A>T, NM_006711.5:c.149A>T, NM_006711.4:c.149A>T, NM_006711.3:c.149A>T, NM_080594.4:c.149A>T, NM_080594.3:c.149A>T, NM_080594.2:c.149A>T, XM_005255048.3:c.149A>T, XM_005255048.2:c.149A>T, XM_005255048.1:c.149A>T, NR_104485.2:n.272A>T, NR_104485.1:n.558A>T, NM_001286626.2:c.80A>T, NM_001286626.1:c.80A>T, NM_001286627.2:c.80A>T, NM_001286627.1:c.80A>T, XM_047433516.1:c.149A>T, NM_001286625.1:c.149A>T, XP_005255106.1:p.Lys50Met, NP_006702.1:p.Lys50Met, NP_542161.1:p.Lys50Met, XP_005255105.1:p.Lys50Met, NP_001273555.1:p.Lys27Met, NP_001273556.1:p.Lys27Met, XP_047289472.1:p.Lys50Met, NP_001273554.1:p.Lys50Met

Select item 14733215767.

rs1473321576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:2253996 (GRCh38)
16:2303997 (GRCh37)
Canonical SPDI:: NC_000016.10:2253995:T:C,NC_000016.10:2253995:T:G
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.2253996T>C, NC_000016.10:g.2253996T>G, NC_000016.9:g.2303997T>C, NC_000016.9:g.2303997T>G, NG_047046.1:g.2606A>G, NG_047046.1:g.2606A>C, XM_005255049.5:c.886A>G, XM_005255049.5:c.886A>C, XM_005255049.4:c.886A>G, XM_005255049.4:c.886A>C, XM_005255049.3:c.886A>G, XM_005255049.3:c.886A>C, XM_005255049.2:c.886A>G, XM_005255049.2:c.886A>C, XM_005255049.1:c.886A>G, XM_005255049.1:c.886A>C, NM_006711.5:c.886A>G, NM_006711.5:c.886A>C, NM_006711.4:c.886A>G, NM_006711.4:c.886A>C, NM_006711.3:c.886A>G, NM_006711.3:c.886A>C, NM_080594.4:c.886A>G, NM_080594.4:c.886A>C, NM_080594.3:c.886A>G, NM_080594.3:c.886A>C, NM_080594.2:c.886A>G, NM_080594.2:c.886A>C, XM_005255048.3:c.886A>G, XM_005255048.3:c.886A>C, XM_005255048.2:c.886A>G, XM_005255048.2:c.886A>C, XM_005255048.1:c.886A>G, XM_005255048.1:c.886A>C, NR_104485.2:n.1009A>G, NR_104485.2:n.1009A>C, NR_104485.1:n.1295A>G, NR_104485.1:n.1295A>C, NM_001286626.2:c.817A>G, NM_001286626.2:c.817A>C, NM_001286626.1:c.817A>G, NM_001286626.1:c.817A>C, NM_001286627.2:c.675A>G, NM_001286627.2:c.675A>C, NM_001286627.1:c.675A>G, NM_001286627.1:c.675A>C, XM_047433516.1:c.886A>G, XM_047433516.1:c.886A>C, NM_001286625.1:c.886A>G, NM_001286625.1:c.886A>C, XP_005255106.1:p.Arg296Gly, NP_006702.1:p.Arg296Gly, NP_542161.1:p.Arg296Gly, XP_005255105.1:p.Arg296Gly, NP_001273555.1:p.Arg273Gly, XP_047289472.1:p.Arg296Gly, NP_001273554.1:p.Arg296Gly

Select item 14690298518.

rs1469029851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2262783 (GRCh38)
16:2312784 (GRCh37)
Canonical SPDI:: NC_000016.10:2262782:G:A
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.2262783G>A, NC_000016.9:g.2312784G>A, XM_005255049.5:c.479C>T, XM_005255049.4:c.479C>T, XM_005255049.3:c.479C>T, XM_005255049.2:c.479C>T, XM_005255049.1:c.479C>T, NM_006711.5:c.479C>T, NM_006711.4:c.479C>T, NM_006711.3:c.479C>T, NM_080594.4:c.479C>T, NM_080594.3:c.479C>T, NM_080594.2:c.479C>T, XM_005255048.3:c.479C>T, XM_005255048.2:c.479C>T, XM_005255048.1:c.479C>T, NR_104485.2:n.602C>T, NR_104485.1:n.888C>T, NM_001286626.2:c.410C>T, NM_001286626.1:c.410C>T, NM_001286627.2:c.410C>T, NM_001286627.1:c.410C>T, XM_047433516.1:c.479C>T, NM_001286625.1:c.479C>T, XP_005255106.1:p.Pro160Leu, NP_006702.1:p.Pro160Leu, NP_542161.1:p.Pro160Leu, XP_005255105.1:p.Pro160Leu, NP_001273555.1:p.Pro137Leu, NP_001273556.1:p.Pro137Leu, XP_047289472.1:p.Pro160Leu, NP_001273554.1:p.Pro160Leu

Select item 14670986959.

rs1467098695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:2264588 (GRCh38)
16:2314589 (GRCh37)
Canonical SPDI:: NC_000016.10:2264587:T:G
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.2264588T>G, NC_000016.9:g.2314589T>G, XM_005255049.5:c.56A>C, XM_005255049.4:c.56A>C, XM_005255049.3:c.56A>C, XM_005255049.2:c.56A>C, XM_005255049.1:c.56A>C, NM_006711.5:c.56A>C, NM_006711.4:c.56A>C, NM_006711.3:c.56A>C, NM_080594.4:c.56A>C, NM_080594.3:c.56A>C, NM_080594.2:c.56A>C, XM_005255048.3:c.56A>C, XM_005255048.2:c.56A>C, XM_005255048.1:c.56A>C, XM_047433516.1:c.56A>C, NM_001286625.1:c.56A>C, XP_005255106.1:p.Lys19Thr, NP_006702.1:p.Lys19Thr, NP_542161.1:p.Lys19Thr, XP_005255105.1:p.Lys19Thr, XP_047289472.1:p.Lys19Thr, NP_001273554.1:p.Lys19Thr

Select item 146516849810.

rs1465168498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2262339 (GRCh38)
16:2312340 (GRCh37)
Canonical SPDI:: NC_000016.10:2262338:A:G
Gene:: RNPS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2262339A>G, NC_000016.9:g.2312340A>G, XM_005255049.5:c.615T>C, XM_005255049.4:c.615T>C, XM_005255049.3:c.615T>C, XM_005255049.2:c.615T>C, XM_005255049.1:c.615T>C, NM_006711.5:c.615T>C, NM_006711.4:c.615T>C, NM_006711.3:c.615T>C, NM_080594.4:c.615T>C, NM_080594.3:c.615T>C, NM_080594.2:c.615T>C, XM_005255048.3:c.615T>C, XM_005255048.2:c.615T>C, XM_005255048.1:c.615T>C, NR_104485.2:n.738T>C, NR_104485.1:n.1024T>C, NM_001286626.2:c.546T>C, NM_001286626.1:c.546T>C, NM_001286627.2:c.546T>C, NM_001286627.1:c.546T>C, XM_047433516.1:c.615T>C, NM_001286625.1:c.615T>C

Select item 146262503811.

rs1462625038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2262423 (GRCh38)
16:2312424 (GRCh37)
Canonical SPDI:: NC_000016.10:2262422:G:A
Gene:: RNPS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2262423G>A, NC_000016.9:g.2312424G>A, XM_005255049.5:c.531C>T, XM_005255049.4:c.531C>T, XM_005255049.3:c.531C>T, XM_005255049.2:c.531C>T, XM_005255049.1:c.531C>T, NM_006711.5:c.531C>T, NM_006711.4:c.531C>T, NM_006711.3:c.531C>T, NM_080594.4:c.531C>T, NM_080594.3:c.531C>T, NM_080594.2:c.531C>T, XM_005255048.3:c.531C>T, XM_005255048.2:c.531C>T, XM_005255048.1:c.531C>T, NR_104485.2:n.654C>T, NR_104485.1:n.940C>T, NM_001286626.2:c.462C>T, NM_001286626.1:c.462C>T, NM_001286627.2:c.462C>T, NM_001286627.1:c.462C>T, XM_047433516.1:c.531C>T, NM_001286625.1:c.531C>T

Select item 145487122112.

rs1454871221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2262355 (GRCh38)
16:2312356 (GRCh37)
Canonical SPDI:: NC_000016.10:2262354:T:C
Gene:: RNPS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2262355T>C, NC_000016.9:g.2312356T>C, XM_005255049.5:c.599A>G, XM_005255049.4:c.599A>G, XM_005255049.3:c.599A>G, XM_005255049.2:c.599A>G, XM_005255049.1:c.599A>G, NM_006711.5:c.599A>G, NM_006711.4:c.599A>G, NM_006711.3:c.599A>G, NM_080594.4:c.599A>G, NM_080594.3:c.599A>G, NM_080594.2:c.599A>G, XM_005255048.3:c.599A>G, XM_005255048.2:c.599A>G, XM_005255048.1:c.599A>G, NR_104485.2:n.722A>G, NR_104485.1:n.1008A>G, NM_001286626.2:c.530A>G, NM_001286626.1:c.530A>G, NM_001286627.2:c.530A>G, NM_001286627.1:c.530A>G, XM_047433516.1:c.599A>G, NM_001286625.1:c.599A>G, XP_005255106.1:p.His200Arg, NP_006702.1:p.His200Arg, NP_542161.1:p.His200Arg, XP_005255105.1:p.His200Arg, NP_001273555.1:p.His177Arg, NP_001273556.1:p.His177Arg, XP_047289472.1:p.His200Arg, NP_001273554.1:p.His200Arg

Select item 145417642413.

rs1454176424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:2263177 (GRCh38)
16:2313178 (GRCh37)
Canonical SPDI:: NC_000016.10:2263176:C:A,NC_000016.10:2263176:C:T
Gene:: RNPS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.2263177C>A, NC_000016.10:g.2263177C>T, NC_000016.9:g.2313178C>A, NC_000016.9:g.2313178C>T, XM_005255049.5:c.338G>T, XM_005255049.5:c.338G>A, XM_005255049.4:c.338G>T, XM_005255049.4:c.338G>A, XM_005255049.3:c.338G>T, XM_005255049.3:c.338G>A, XM_005255049.2:c.338G>T, XM_005255049.2:c.338G>A, XM_005255049.1:c.338G>T, XM_005255049.1:c.338G>A, NM_006711.5:c.338G>T, NM_006711.5:c.338G>A, NM_006711.4:c.338G>T, NM_006711.4:c.338G>A, NM_006711.3:c.338G>T, NM_006711.3:c.338G>A, NM_080594.4:c.338G>T, NM_080594.4:c.338G>A, NM_080594.3:c.338G>T, NM_080594.3:c.338G>A, NM_080594.2:c.338G>T, NM_080594.2:c.338G>A, XM_005255048.3:c.338G>T, XM_005255048.3:c.338G>A, XM_005255048.2:c.338G>T, XM_005255048.2:c.338G>A, XM_005255048.1:c.338G>T, XM_005255048.1:c.338G>A, NR_104485.2:n.461G>T, NR_104485.2:n.461G>A, NR_104485.1:n.747G>T, NR_104485.1:n.747G>A, NM_001286626.2:c.269G>T, NM_001286626.2:c.269G>A, NM_001286626.1:c.269G>T, NM_001286626.1:c.269G>A, NM_001286627.2:c.269G>T, NM_001286627.2:c.269G>A, NM_001286627.1:c.269G>T, NM_001286627.1:c.269G>A, XM_047433516.1:c.338G>T, XM_047433516.1:c.338G>A, NM_001286625.1:c.338G>T, NM_001286625.1:c.338G>A, XP_005255106.1:p.Arg113Leu, XP_005255106.1:p.Arg113His, NP_006702.1:p.Arg113Leu, NP_006702.1:p.Arg113His, NP_542161.1:p.Arg113Leu, NP_542161.1:p.Arg113His, XP_005255105.1:p.Arg113Leu, XP_005255105.1:p.Arg113His, NP_001273555.1:p.Arg90Leu, NP_001273555.1:p.Arg90His, NP_001273556.1:p.Arg90Leu, NP_001273556.1:p.Arg90His, XP_047289472.1:p.Arg113Leu, XP_047289472.1:p.Arg113His, NP_001273554.1:p.Arg113Leu, NP_001273554.1:p.Arg113His

Select item 145406884514.

rs1454068845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2255716 (GRCh38)
16:2305717 (GRCh37)
Canonical SPDI:: NC_000016.10:2255715:A:G
Gene:: RNPS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2255716A>G, NC_000016.9:g.2305717A>G, NG_047046.1:g.886T>C, XM_005255049.5:c.687T>C, XM_005255049.4:c.687T>C, XM_005255049.3:c.687T>C, XM_005255049.2:c.687T>C, XM_005255049.1:c.687T>C, NM_006711.5:c.687T>C, NM_006711.4:c.687T>C, NM_006711.3:c.687T>C, NM_080594.4:c.687T>C, NM_080594.3:c.687T>C, NM_080594.2:c.687T>C, XM_005255048.3:c.687T>C, XM_005255048.2:c.687T>C, XM_005255048.1:c.687T>C, NR_104485.2:n.810T>C, NR_104485.1:n.1096T>C, NM_001286626.2:c.618T>C, NM_001286626.1:c.618T>C, XM_047433516.1:c.687T>C, NM_001286625.1:c.687T>C

Select item 144955924115.

rs1449559241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:2264603 (GRCh38)
16:2314604 (GRCh37)
Canonical SPDI:: NC_000016.10:2264602:A:C
Gene:: RNPS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2264603A>C, NC_000016.9:g.2314604A>C, XM_005255049.5:c.41T>G, XM_005255049.4:c.41T>G, XM_005255049.3:c.41T>G, XM_005255049.2:c.41T>G, XM_005255049.1:c.41T>G, NM_006711.5:c.41T>G, NM_006711.4:c.41T>G, NM_006711.3:c.41T>G, NM_080594.4:c.41T>G, NM_080594.3:c.41T>G, NM_080594.2:c.41T>G, XM_005255048.3:c.41T>G, XM_005255048.2:c.41T>G, XM_005255048.1:c.41T>G, XM_047433516.1:c.41T>G, NM_001286625.1:c.41T>G, XP_005255106.1:p.Val14Gly, NP_006702.1:p.Val14Gly, NP_542161.1:p.Val14Gly, XP_005255105.1:p.Val14Gly, XP_047289472.1:p.Val14Gly, NP_001273554.1:p.Val14Gly

Select item 144892846616.

rs1448928466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:2263119 (GRCh38)
16:2313120 (GRCh37)
Canonical SPDI:: NC_000016.10:2263118:G:T
Gene:: RNPS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2263119G>T, NC_000016.9:g.2313120G>T, XM_005255049.5:c.396C>A, XM_005255049.4:c.396C>A, XM_005255049.3:c.396C>A, XM_005255049.2:c.396C>A, XM_005255049.1:c.396C>A, NM_006711.5:c.396C>A, NM_006711.4:c.396C>A, NM_006711.3:c.396C>A, NM_080594.4:c.396C>A, NM_080594.3:c.396C>A, NM_080594.2:c.396C>A, XM_005255048.3:c.396C>A, XM_005255048.2:c.396C>A, XM_005255048.1:c.396C>A, NR_104485.2:n.519C>A, NR_104485.1:n.805C>A, NM_001286626.2:c.327C>A, NM_001286626.1:c.327C>A, NM_001286627.2:c.327C>A, NM_001286627.1:c.327C>A, XM_047433516.1:c.396C>A, NM_001286625.1:c.396C>A, XP_005255106.1:p.Asp132Glu, NP_006702.1:p.Asp132Glu, NP_542161.1:p.Asp132Glu, XP_005255105.1:p.Asp132Glu, NP_001273555.1:p.Asp109Glu, NP_001273556.1:p.Asp109Glu, XP_047289472.1:p.Asp132Glu, NP_001273554.1:p.Asp132Glu

Select item 144744540917.

rs1447445409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2262342 (GRCh38)
16:2312343 (GRCh37)
Canonical SPDI:: NC_000016.10:2262341:G:A
Gene:: RNPS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2262342G>A, NC_000016.9:g.2312343G>A, XM_005255049.5:c.612C>T, XM_005255049.4:c.612C>T, XM_005255049.3:c.612C>T, XM_005255049.2:c.612C>T, XM_005255049.1:c.612C>T, NM_006711.5:c.612C>T, NM_006711.4:c.612C>T, NM_006711.3:c.612C>T, NM_080594.4:c.612C>T, NM_080594.3:c.612C>T, NM_080594.2:c.612C>T, XM_005255048.3:c.612C>T, XM_005255048.2:c.612C>T, XM_005255048.1:c.612C>T, NR_104485.2:n.735C>T, NR_104485.1:n.1021C>T, NM_001286626.2:c.543C>T, NM_001286626.1:c.543C>T, NM_001286627.2:c.543C>T, NM_001286627.1:c.543C>T, XM_047433516.1:c.612C>T, NM_001286625.1:c.612C>T

Select item 144604817118.

rs1446048171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:2263283 (GRCh38)
16:2313284 (GRCh37)
Canonical SPDI:: NC_000016.10:2263282:G:A,NC_000016.10:2263282:G:C
Gene:: RNPS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2263283G>A, NC_000016.10:g.2263283G>C, NC_000016.9:g.2313284G>A, NC_000016.9:g.2313284G>C, XM_005255049.5:c.232C>T, XM_005255049.5:c.232C>G, XM_005255049.4:c.232C>T, XM_005255049.4:c.232C>G, XM_005255049.3:c.232C>T, XM_005255049.3:c.232C>G, XM_005255049.2:c.232C>T, XM_005255049.2:c.232C>G, XM_005255049.1:c.232C>T, XM_005255049.1:c.232C>G, NM_006711.5:c.232C>T, NM_006711.5:c.232C>G, NM_006711.4:c.232C>T, NM_006711.4:c.232C>G, NM_006711.3:c.232C>T, NM_006711.3:c.232C>G, NM_080594.4:c.232C>T, NM_080594.4:c.232C>G, NM_080594.3:c.232C>T, NM_080594.3:c.232C>G, NM_080594.2:c.232C>T, NM_080594.2:c.232C>G, XM_005255048.3:c.232C>T, XM_005255048.3:c.232C>G, XM_005255048.2:c.232C>T, XM_005255048.2:c.232C>G, XM_005255048.1:c.232C>T, XM_005255048.1:c.232C>G, NR_104485.2:n.355C>T, NR_104485.2:n.355C>G, NR_104485.1:n.641C>T, NR_104485.1:n.641C>G, NM_001286626.2:c.163C>T, NM_001286626.2:c.163C>G, NM_001286626.1:c.163C>T, NM_001286626.1:c.163C>G, NM_001286627.2:c.163C>T, NM_001286627.2:c.163C>G, NM_001286627.1:c.163C>T, NM_001286627.1:c.163C>G, XM_047433516.1:c.232C>T, XM_047433516.1:c.232C>G, NM_001286625.1:c.232C>T, NM_001286625.1:c.232C>G, XP_005255106.1:p.Arg78Trp, XP_005255106.1:p.Arg78Gly, NP_006702.1:p.Arg78Trp, NP_006702.1:p.Arg78Gly, NP_542161.1:p.Arg78Trp, NP_542161.1:p.Arg78Gly, XP_005255105.1:p.Arg78Trp, XP_005255105.1:p.Arg78Gly, NP_001273555.1:p.Arg55Trp, NP_001273555.1:p.Arg55Gly, NP_001273556.1:p.Arg55Trp, NP_001273556.1:p.Arg55Gly, XP_047289472.1:p.Arg78Trp, XP_047289472.1:p.Arg78Gly, NP_001273554.1:p.Arg78Trp, NP_001273554.1:p.Arg78Gly

Select item 144139407919.

rs1441394079 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 16:2255591 (GRCh38)
16:2305592 (GRCh37)
Canonical SPDI:: NC_000016.10:2255587:CTCCTC:CTC
Gene:: RNPS1 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCCTC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2255588CTC[1], NC_000016.9:g.2305589CTC[1], NG_047046.1:g.1009GAG[1], XM_005255049.5:c.810GAG[1], XM_005255049.4:c.810GAG[1], XM_005255049.3:c.810GAG[1], XM_005255049.2:c.810GAG[1], XM_005255049.1:c.810GAG[1], NM_006711.5:c.810GAG[1], NM_006711.4:c.810GAG[1], NM_006711.3:c.810GAG[1], NM_080594.4:c.810GAG[1], NM_080594.3:c.810GAG[1], NM_080594.2:c.810GAG[1], XM_005255048.3:c.810GAG[1], XM_005255048.2:c.810GAG[1], XM_005255048.1:c.810GAG[1], NR_104485.2:n.933GAG[1], NR_104485.1:n.1219GAG[1], NM_001286626.2:c.741GAG[1], NM_001286626.1:c.741GAG[1], XM_047433516.1:c.810GAG[1], NM_001286625.1:c.810GAG[1], XP_005255106.1:p.Arg273del, NP_006702.1:p.Arg273del, NP_542161.1:p.Arg273del, XP_005255105.1:p.Arg273del, NP_001273555.1:p.Arg250del, XP_047289472.1:p.Arg273del, NP_001273554.1:p.Arg273del

Select item 144001335120.

rs1440013351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2263271 (GRCh38)
16:2313272 (GRCh37)
Canonical SPDI:: NC_000016.10:2263270:T:C
Gene:: RNPS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2263271T>C, NC_000016.9:g.2313272T>C, XM_005255049.5:c.244A>G, XM_005255049.4:c.244A>G, XM_005255049.3:c.244A>G, XM_005255049.2:c.244A>G, XM_005255049.1:c.244A>G, NM_006711.5:c.244A>G, NM_006711.4:c.244A>G, NM_006711.3:c.244A>G, NM_080594.4:c.244A>G, NM_080594.3:c.244A>G, NM_080594.2:c.244A>G, XM_005255048.3:c.244A>G, XM_005255048.2:c.244A>G, XM_005255048.1:c.244A>G, NR_104485.2:n.367A>G, NR_104485.1:n.653A>G, NM_001286626.2:c.175A>G, NM_001286626.1:c.175A>G, NM_001286627.2:c.175A>G, NM_001286627.1:c.175A>G, XM_047433516.1:c.244A>G, NM_001286625.1:c.244A>G, XP_005255106.1:p.Thr82Ala, NP_006702.1:p.Thr82Ala, NP_542161.1:p.Thr82Ala, XP_005255105.1:p.Thr82Ala, NP_001273555.1:p.Thr59Ala, NP_001273556.1:p.Thr59Ala, XP_047289472.1:p.Thr82Ala, NP_001273554.1:p.Thr82Ala

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