SNP Links for Protein (Select 194306567) - SNP

Select item 14901194651.

rs1490119465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:118022357 (GRCh38)
12:118460162 (GRCh37)
Canonical SPDI:: NC_000012.12:118022356:G:A
Gene:: RFC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.118022357G>A, NC_000012.11:g.118460162G>A, NM_007370.7:c.419G>A, NM_007370.6:c.419G>A, NM_007370.5:c.419G>A, NM_181578.5:c.356G>A, NM_181578.4:c.356G>A, NM_181578.3:c.356G>A, NM_001130112.4:c.164G>A, NM_001130112.3:c.164G>A, NM_001130112.2:c.164G>A, NM_001130113.3:c.356G>A, NM_001130113.2:c.356G>A, NM_001130113.1:c.356G>A, NM_001206801.3:c.419G>A, NM_001206801.2:c.419G>A, NM_001206801.1:c.419G>A, NM_001346815.2:c.164G>A, NM_001346815.1:c.164G>A, NR_144504.2:n.544G>A, NR_144504.1:n.586G>A, XR_007063112.1:n.544G>A, XR_007063111.1:n.544G>A, XR_007063113.1:n.413G>A, NP_031396.1:p.Arg140Lys, NP_853556.2:p.Arg119Lys, NP_001123584.1:p.Arg55Lys, NP_001123585.1:p.Arg119Lys, NP_001193730.1:p.Arg140Lys, NP_001333744.1:p.Arg55Lys

Select item 14799376952.

rs1479937695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:118022293 (GRCh38)
12:118460098 (GRCh37)
Canonical SPDI:: NC_000012.12:118022292:T:G
Gene:: RFC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.118022293T>G, NC_000012.11:g.118460098T>G, NM_007370.7:c.355T>G, NM_007370.6:c.355T>G, NM_007370.5:c.355T>G, NM_181578.5:c.292T>G, NM_181578.4:c.292T>G, NM_181578.3:c.292T>G, NM_001130112.4:c.100T>G, NM_001130112.3:c.100T>G, NM_001130112.2:c.100T>G, NM_001130113.3:c.292T>G, NM_001130113.2:c.292T>G, NM_001130113.1:c.292T>G, NM_001206801.3:c.355T>G, NM_001206801.2:c.355T>G, NM_001206801.1:c.355T>G, NM_001346815.2:c.100T>G, NM_001346815.1:c.100T>G, NR_144504.2:n.480T>G, NR_144504.1:n.522T>G, XR_007063112.1:n.480T>G, XR_007063111.1:n.480T>G, XR_007063113.1:n.349T>G, NP_031396.1:p.Phe119Val, NP_853556.2:p.Phe98Val, NP_001123584.1:p.Phe34Val, NP_001123585.1:p.Phe98Val, NP_001193730.1:p.Phe119Val, NP_001333744.1:p.Phe34Val

Select item 14770225813.

rs1477022581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:118031214 (GRCh38)
12:118469019 (GRCh37)
Canonical SPDI:: NC_000012.12:118031213:T:A
Gene:: RFC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.118031214T>A, NC_000012.11:g.118469019T>A, NM_007370.7:c.959T>A, NM_007370.6:c.959T>A, NM_007370.5:c.959T>A, NM_181578.5:c.896T>A, NM_181578.4:c.896T>A, NM_181578.3:c.896T>A, NM_001130112.4:c.704T>A, NM_001130112.3:c.704T>A, NM_001130112.2:c.704T>A, NM_001130113.3:c.896T>A, NM_001130113.2:c.896T>A, NM_001130113.1:c.896T>A, NM_001206801.3:c.950T>A, NM_001206801.2:c.950T>A, NM_001206801.1:c.950T>A, NM_001346815.2:c.695T>A, NM_001346815.1:c.695T>A, NR_144504.2:n.1088T>A, NR_144504.1:n.1130T>A, XR_007063112.1:n.1084T>A, XR_007063111.1:n.1084T>A, XR_007063113.1:n.953T>A, NP_031396.1:p.Ile320Asn, NP_853556.2:p.Ile299Asn, NP_001123584.1:p.Ile235Asn, NP_001123585.1:p.Ile299Asn, NP_001193730.1:p.Ile317Asn, NP_001333744.1:p.Ile232Asn

Select item 14733448214.

rs1473344821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:118024992 (GRCh38)
12:118462797 (GRCh37)
Canonical SPDI:: NC_000012.12:118024991:A:G
Gene:: RFC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.118024992A>G, NC_000012.11:g.118462797A>G, NM_007370.7:c.563A>G, NM_007370.6:c.563A>G, NM_007370.5:c.563A>G, NM_181578.5:c.500A>G, NM_181578.4:c.500A>G, NM_181578.3:c.500A>G, NM_001130112.4:c.308A>G, NM_001130112.3:c.308A>G, NM_001130112.2:c.308A>G, NM_001130113.3:c.500A>G, NM_001130113.2:c.500A>G, NM_001130113.1:c.500A>G, NM_001206801.3:c.563A>G, NM_001206801.2:c.563A>G, NM_001206801.1:c.563A>G, NM_001346815.2:c.308A>G, NM_001346815.1:c.308A>G, NR_144504.2:n.688A>G, NR_144504.1:n.730A>G, XR_007063112.1:n.688A>G, XR_007063111.1:n.688A>G, XR_007063113.1:n.557A>G, NP_031396.1:p.His188Arg, NP_853556.2:p.His167Arg, NP_001123584.1:p.His103Arg, NP_001123585.1:p.His167Arg, NP_001193730.1:p.His188Arg, NP_001333744.1:p.His103Arg

Select item 14673775135.

rs1467377513 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 14582198086.

rs1458219808 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 12:118020981 (GRCh38)
12:118458786 (GRCh37)
Canonical SPDI:: NC_000012.12:118020980:TTT:TT
Gene:: RFC5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000012.12:g.118020983del, NC_000012.11:g.118458788del, NM_007370.7:c.345del, NM_007370.6:c.345del, NM_007370.5:c.345del, NM_181578.5:c.282del, NM_181578.4:c.282del, NM_181578.3:c.282del, NM_001130112.4:c.90del, NM_001130112.3:c.90del, NM_001130112.2:c.90del, NM_001130113.3:c.282del, NM_001130113.2:c.282del, NM_001130113.1:c.282del, NM_001206801.3:c.345del, NM_001206801.2:c.345del, NM_001206801.1:c.345del, NM_001346815.2:c.90del, NM_001346815.1:c.90del, NR_144504.2:n.470del, NR_144504.1:n.512del, XR_007063112.1:n.470del, XR_007063111.1:n.470del, XR_007063113.1:n.339del, NP_031396.1:p.Phe115fs, NP_853556.2:p.Phe94fs, NP_001123584.1:p.Phe30fs, NP_001123585.1:p.Phe94fs, NP_001193730.1:p.Phe115fs, NP_001333744.1:p.Phe30fs

Select item 14561523507.

rs1456152350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:118022286 (GRCh38)
12:118460091 (GRCh37)
Canonical SPDI:: NC_000012.12:118022285:G:A
Gene:: RFC5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.118022286G>A, NC_000012.11:g.118460091G>A, NM_007370.7:c.348G>A, NM_007370.6:c.348G>A, NM_007370.5:c.348G>A, NM_181578.5:c.285G>A, NM_181578.4:c.285G>A, NM_181578.3:c.285G>A, NM_001130112.4:c.93G>A, NM_001130112.3:c.93G>A, NM_001130112.2:c.93G>A, NM_001130113.3:c.285G>A, NM_001130113.2:c.285G>A, NM_001130113.1:c.285G>A, NM_001206801.3:c.348G>A, NM_001206801.2:c.348G>A, NM_001206801.1:c.348G>A, NM_001346815.2:c.93G>A, NM_001346815.1:c.93G>A, NR_144504.2:n.473G>A, NR_144504.1:n.515G>A, XR_007063112.1:n.473G>A, XR_007063111.1:n.473G>A, XR_007063113.1:n.342G>A

Select item 14513241988.

rs1451324198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:118020923 (GRCh38)
12:118458728 (GRCh37)
Canonical SPDI:: NC_000012.12:118020922:C:T
Gene:: RFC5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.118020923C>T, NC_000012.11:g.118458728C>T, NM_007370.7:c.285C>T, NM_007370.6:c.285C>T, NM_007370.5:c.285C>T, NM_181578.5:c.222C>T, NM_181578.4:c.222C>T, NM_181578.3:c.222C>T, NM_001130112.4:c.30C>T, NM_001130112.3:c.30C>T, NM_001130112.2:c.30C>T, NM_001130113.3:c.222C>T, NM_001130113.2:c.222C>T, NM_001130113.1:c.222C>T, NM_001206801.3:c.285C>T, NM_001206801.2:c.285C>T, NM_001206801.1:c.285C>T, NM_001346815.2:c.30C>T, NM_001346815.1:c.30C>T, NR_144504.2:n.410C>T, NR_144504.1:n.452C>T, XR_007063112.1:n.410C>T, XR_007063111.1:n.410C>T, XR_007063113.1:n.279C>T

Select item 14507524159.

rs1450752415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:118028008 (GRCh38)
12:118465813 (GRCh37)
Canonical SPDI:: NC_000012.12:118028007:G:A
Gene:: RFC5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.118028008G>A, NC_000012.11:g.118465813G>A, NM_007370.7:c.849G>A, NM_007370.6:c.849G>A, NM_007370.5:c.849G>A, NM_181578.5:c.786G>A, NM_181578.4:c.786G>A, NM_181578.3:c.786G>A, NM_001130112.4:c.594G>A, NM_001130112.3:c.594G>A, NM_001130112.2:c.594G>A, NM_001130113.3:c.786G>A, NM_001130113.2:c.786G>A, NM_001130113.1:c.786G>A, NM_001206801.3:c.840G>A, NM_001206801.2:c.840G>A, NM_001206801.1:c.840G>A, NM_001346815.2:c.585G>A, NM_001346815.1:c.585G>A, NR_144504.2:n.978G>A, NR_144504.1:n.1020G>A, XR_007063112.1:n.974G>A, XR_007063111.1:n.974G>A, XR_007063113.1:n.843G>A

Select item 144815010510.

rs1448150105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:118026903 (GRCh38)
12:118464708 (GRCh37)
Canonical SPDI:: NC_000012.12:118026902:C:G
Gene:: RFC5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.118026903C>G, NC_000012.11:g.118464708C>G, NM_007370.7:c.678C>G, NM_007370.6:c.678C>G, NM_007370.5:c.678C>G, NM_181578.5:c.615C>G, NM_181578.4:c.615C>G, NM_181578.3:c.615C>G, NM_001130112.4:c.423C>G, NM_001130112.3:c.423C>G, NM_001130112.2:c.423C>G, NM_001130113.3:c.615C>G, NM_001130113.2:c.615C>G, NM_001130113.1:c.615C>G, NM_001206801.3:c.678C>G, NM_001206801.2:c.678C>G, NM_001206801.1:c.678C>G, NM_001346815.2:c.423C>G, NM_001346815.1:c.423C>G, NR_144504.2:n.807C>G, NR_144504.1:n.849C>G, XR_007063112.1:n.803C>G, XR_007063111.1:n.803C>G, XR_007063113.1:n.672C>G

Select item 144804693511.

rs1448046935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:118026928 (GRCh38)
12:118464733 (GRCh37)
Canonical SPDI:: NC_000012.12:118026927:G:A
Gene:: RFC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.118026928G>A, NC_000012.11:g.118464733G>A, NM_007370.7:c.703G>A, NM_007370.6:c.703G>A, NM_007370.5:c.703G>A, NM_181578.5:c.640G>A, NM_181578.4:c.640G>A, NM_181578.3:c.640G>A, NM_001130112.4:c.448G>A, NM_001130112.3:c.448G>A, NM_001130112.2:c.448G>A, NM_001130113.3:c.640G>A, NM_001130113.2:c.640G>A, NM_001130113.1:c.640G>A, NM_001206801.3:c.703G>A, NM_001206801.2:c.703G>A, NM_001206801.1:c.703G>A, NM_001346815.2:c.448G>A, NM_001346815.1:c.448G>A, NR_144504.2:n.832G>A, NR_144504.1:n.874G>A, XR_007063112.1:n.828G>A, XR_007063111.1:n.828G>A, XR_007063113.1:n.697G>A, NP_031396.1:p.Val235Ile, NP_853556.2:p.Val214Ile, NP_001123584.1:p.Val150Ile, NP_001123585.1:p.Val214Ile, NP_001193730.1:p.Val235Ile, NP_001333744.1:p.Val150Ile

Select item 144547630812.

rs1445476308 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGT>- [Show Flanks]
Chromosome:: 12:118024996 (GRCh38)
12:118462801 (GRCh37)
Canonical SPDI:: NC_000012.12:118024993:GTCGT:GT
Gene:: RFC5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.118024996_118024998del, NC_000012.11:g.118462801_118462803del, NM_007370.7:c.567_569del, NM_007370.6:c.567_569del, NM_007370.5:c.567_569del, NM_181578.5:c.504_506del, NM_181578.4:c.504_506del, NM_181578.3:c.504_506del, NM_001130112.4:c.312_314del, NM_001130112.3:c.312_314del, NM_001130112.2:c.312_314del, NM_001130113.3:c.504_506del, NM_001130113.2:c.504_506del, NM_001130113.1:c.504_506del, NM_001206801.3:c.567_569del, NM_001206801.2:c.567_569del, NM_001206801.1:c.567_569del, NM_001346815.2:c.312_314del, NM_001346815.1:c.312_314del, NR_144504.2:n.692_694del, NR_144504.1:n.734_736del, XR_007063112.1:n.692_694del, XR_007063111.1:n.692_694del, XR_007063113.1:n.561_563del, NP_031396.1:p.Val190del, NP_853556.2:p.Val169del, NP_001123584.1:p.Val105del, NP_001123585.1:p.Val169del, NP_001193730.1:p.Val190del, NP_001333744.1:p.Val105del

Select item 144538836213.

rs1445388362 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:118020937 (GRCh38)
12:118458742 (GRCh37)
Canonical SPDI:: NC_000012.12:118020936:T:
Gene:: RFC5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.118020937del, NC_000012.11:g.118458742del, NM_007370.7:c.299del, NM_007370.6:c.299del, NM_007370.5:c.299del, NM_181578.5:c.236del, NM_181578.4:c.236del, NM_181578.3:c.236del, NM_001130112.4:c.44del, NM_001130112.3:c.44del, NM_001130112.2:c.44del, NM_001130113.3:c.236del, NM_001130113.2:c.236del, NM_001130113.1:c.236del, NM_001206801.3:c.299del, NM_001206801.2:c.299del, NM_001206801.1:c.299del, NM_001346815.2:c.44del, NM_001346815.1:c.44del, NR_144504.2:n.424del, NR_144504.1:n.466del, XR_007063112.1:n.424del, XR_007063111.1:n.424del, XR_007063113.1:n.293del, NP_031396.1:p.Ile100fs, NP_853556.2:p.Ile79fs, NP_001123584.1:p.Ile15fs, NP_001123585.1:p.Ile79fs, NP_001193730.1:p.Ile100fs, NP_001333744.1:p.Ile15fs

Select item 144015399214.

rs1440153992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:118026996 (GRCh38)
12:118464801 (GRCh37)
Canonical SPDI:: NC_000012.12:118026995:A:G
Gene:: RFC5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_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_000012.12:g.118026996A>G, NC_000012.11:g.118464801A>G, NM_007370.7:c.771A>G, NM_007370.6:c.771A>G, NM_007370.5:c.771A>G, NM_181578.5:c.708A>G, NM_181578.4:c.708A>G, NM_181578.3:c.708A>G, NM_001130112.4:c.516A>G, NM_001130112.3:c.516A>G, NM_001130112.2:c.516A>G, NM_001130113.3:c.708A>G, NM_001130113.2:c.708A>G, NM_001130113.1:c.708A>G, NM_001206801.3:c.771A>G, NM_001206801.2:c.771A>G, NM_001206801.1:c.771A>G, NM_001346815.2:c.516A>G, NM_001346815.1:c.516A>G, NR_144504.2:n.900A>G, NR_144504.1:n.942A>G, XR_007063112.1:n.896A>G, XR_007063111.1:n.896A>G, XR_007063113.1:n.765A>G

Select item 143600964015.

rs1436009640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:118027979 (GRCh38)
12:118465784 (GRCh37)
Canonical SPDI:: NC_000012.12:118027978:G:A
Gene:: RFC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.118027979G>A, NC_000012.11:g.118465784G>A, NM_007370.7:c.820G>A, NM_007370.6:c.820G>A, NM_007370.5:c.820G>A, NM_181578.5:c.757G>A, NM_181578.4:c.757G>A, NM_181578.3:c.757G>A, NM_001130112.4:c.565G>A, NM_001130112.3:c.565G>A, NM_001130112.2:c.565G>A, NM_001130113.3:c.757G>A, NM_001130113.2:c.757G>A, NM_001130113.1:c.757G>A, NM_001206801.3:c.811G>A, NM_001206801.2:c.811G>A, NM_001206801.1:c.811G>A, NM_001346815.2:c.556G>A, NM_001346815.1:c.556G>A, NR_144504.2:n.949G>A, NR_144504.1:n.991G>A, XR_007063112.1:n.945G>A, XR_007063111.1:n.945G>A, XR_007063113.1:n.814G>A, NP_031396.1:p.Gly274Arg, NP_853556.2:p.Gly253Arg, NP_001123584.1:p.Gly189Arg, NP_001123585.1:p.Gly253Arg, NP_001193730.1:p.Gly271Arg, NP_001333744.1:p.Gly186Arg

Select item 143546786116.

rs1435467861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:118027956 (GRCh38)
12:118465761 (GRCh37)
Canonical SPDI:: NC_000012.12:118027955:T:C
Gene:: RFC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.118027956T>C, NC_000012.11:g.118465761T>C, NM_007370.7:c.797T>C, NM_007370.6:c.797T>C, NM_007370.5:c.797T>C, NM_181578.5:c.734T>C, NM_181578.4:c.734T>C, NM_181578.3:c.734T>C, NM_001130112.4:c.542T>C, NM_001130112.3:c.542T>C, NM_001130112.2:c.542T>C, NM_001130113.3:c.734T>C, NM_001130113.2:c.734T>C, NM_001130113.1:c.734T>C, NR_144504.2:n.926T>C, NR_144504.1:n.968T>C, XR_007063112.1:n.922T>C, XR_007063111.1:n.922T>C, XR_007063113.1:n.791T>C, NP_031396.1:p.Ile266Thr, NP_853556.2:p.Ile245Thr, NP_001123584.1:p.Ile181Thr, NP_001123585.1:p.Ile245Thr

Select item 143525955617.

rs1435259556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:118019641 (GRCh38)
12:118457446 (GRCh37)
Canonical SPDI:: NC_000012.12:118019640:T:G
Gene:: RFC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.118019641T>G, NC_000012.11:g.118457446T>G, NM_007370.7:c.140T>G, NM_007370.6:c.140T>G, NM_007370.5:c.140T>G, NM_181578.5:c.77T>G, NM_181578.4:c.77T>G, NM_181578.3:c.77T>G, NM_001130112.4:c.-116T>G, NM_001130112.3:c.-116T>G, NM_001130112.2:c.-116T>G, NM_001130113.3:c.77T>G, NM_001130113.2:c.77T>G, NM_001130113.1:c.77T>G, NM_001206801.3:c.140T>G, NM_001206801.2:c.140T>G, NM_001206801.1:c.140T>G, NM_001346815.2:c.-116T>G, NM_001346815.1:c.-116T>G, NR_144504.2:n.265T>G, NR_144504.1:n.307T>G, XR_007063112.1:n.265T>G, XR_007063111.1:n.265T>G, XR_007063113.1:n.134T>G, NP_031396.1:p.Phe47Cys, NP_853556.2:p.Phe26Cys, NP_001123585.1:p.Phe26Cys, NP_001193730.1:p.Phe47Cys

Select item 143158643418.

rs1431586434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:118025804 (GRCh38)
12:118463609 (GRCh37)
Canonical SPDI:: NC_000012.12:118025803:G:A
Gene:: RFC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.118025804G>A, NC_000012.11:g.118463609G>A, NM_007370.7:c.639G>A, NM_007370.6:c.639G>A, NM_007370.5:c.639G>A, NM_181578.5:c.576G>A, NM_181578.4:c.576G>A, NM_181578.3:c.576G>A, NM_001130112.4:c.384G>A, NM_001130112.3:c.384G>A, NM_001130112.2:c.384G>A, NM_001130113.3:c.576G>A, NM_001130113.2:c.576G>A, NM_001130113.1:c.576G>A, NM_001206801.3:c.639G>A, NM_001206801.2:c.639G>A, NM_001206801.1:c.639G>A, NM_001346815.2:c.384G>A, NM_001346815.1:c.384G>A, NR_144504.2:n.768G>A, NR_144504.1:n.810G>A, XR_007063112.1:n.764G>A, XR_007063111.1:n.764G>A, XR_007063113.1:n.633G>A, NP_031396.1:p.Met213Ile, NP_853556.2:p.Met192Ile, NP_001123584.1:p.Met128Ile, NP_001123585.1:p.Met192Ile, NP_001193730.1:p.Met213Ile, NP_001333744.1:p.Met128Ile

Select item 143057653519.

rs1430576535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:118031196 (GRCh38)
12:118469001 (GRCh37)
Canonical SPDI:: NC_000012.12:118031195:T:C
Gene:: RFC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.118031196T>C, NC_000012.11:g.118469001T>C, NM_007370.7:c.941T>C, NM_007370.6:c.941T>C, NM_007370.5:c.941T>C, NM_181578.5:c.878T>C, NM_181578.4:c.878T>C, NM_181578.3:c.878T>C, NM_001130112.4:c.686T>C, NM_001130112.3:c.686T>C, NM_001130112.2:c.686T>C, NM_001130113.3:c.878T>C, NM_001130113.2:c.878T>C, NM_001130113.1:c.878T>C, NM_001206801.3:c.932T>C, NM_001206801.2:c.932T>C, NM_001206801.1:c.932T>C, NM_001346815.2:c.677T>C, NM_001346815.1:c.677T>C, NR_144504.2:n.1070T>C, NR_144504.1:n.1112T>C, XR_007063112.1:n.1066T>C, XR_007063111.1:n.1066T>C, XR_007063113.1:n.935T>C, NP_031396.1:p.Val314Ala, NP_853556.2:p.Val293Ala, NP_001123584.1:p.Val229Ala, NP_001123585.1:p.Val293Ala, NP_001193730.1:p.Val311Ala, NP_001333744.1:p.Val226Ala

Select item 142670986520.

rs1426709865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:118022301 (GRCh38)
12:118460106 (GRCh37)
Canonical SPDI:: NC_000012.12:118022300:A:T
Gene:: RFC5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.118022301A>T, NC_000012.11:g.118460106A>T, NM_007370.7:c.363A>T, NM_007370.6:c.363A>T, NM_007370.5:c.363A>T, NM_181578.5:c.300A>T, NM_181578.4:c.300A>T, NM_181578.3:c.300A>T, NM_001130112.4:c.108A>T, NM_001130112.3:c.108A>T, NM_001130112.2:c.108A>T, NM_001130113.3:c.300A>T, NM_001130113.2:c.300A>T, NM_001130113.1:c.300A>T, NM_001206801.3:c.363A>T, NM_001206801.2:c.363A>T, NM_001206801.1:c.363A>T, NM_001346815.2:c.108A>T, NM_001346815.1:c.108A>T, NR_144504.2:n.488A>T, NR_144504.1:n.530A>T, XR_007063112.1:n.488A>T, XR_007063111.1:n.488A>T, XR_007063113.1:n.357A>T

dbSNP

Result Filters

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 251

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 251

Page of 13

Page of 13

Display Settings:

Supplemental Content

Find related data

Recent activity