SNP Links for Protein (Select 767930418) - SNP

Links from Protein

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Select item 14910015041.

rs1491001504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39320601 (GRCh38)
4:39322221 (GRCh37)
Canonical SPDI:: NC_000004.12:39320600:A:G
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39320601A>G, NC_000004.11:g.39322221A>G, NM_002913.5:c.877T>C, NM_002913.4:c.877T>C, NM_001204747.2:c.877T>C, NM_001204747.1:c.877T>C, NM_001363496.2:c.799T>C, NM_001363496.1:c.799T>C, NM_001363495.2:c.799T>C, NM_001363495.1:c.799T>C, XM_011513731.2:c.877T>C, XM_011513731.1:c.877T>C, XM_047416054.1:c.799T>C, XR_007057951.1:n.998T>C, NP_002904.3:p.Ser293Pro, NP_001191676.1:p.Ser293Pro, NP_001350425.1:p.Ser267Pro, NP_001350424.1:p.Ser267Pro, XP_011512033.1:p.Ser293Pro, XP_047272010.1:p.Ser267Pro

Select item 14906522002.

rs1490652200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:39302862 (GRCh38)
4:39304482 (GRCh37)
Canonical SPDI:: NC_000004.12:39302861:G:A
Gene:: RFC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39302862G>A, NC_000004.11:g.39304482G>A, NM_002913.5:c.2215C>T, NM_002913.4:c.2215C>T, NM_001204747.2:c.2218C>T, NM_001204747.1:c.2218C>T, NM_001363496.2:c.2140C>T, NM_001363496.1:c.2140C>T, NM_001363495.2:c.2137C>T, NM_001363495.1:c.2137C>T, XM_011513731.2:c.1708C>T, XM_011513731.1:c.1708C>T, XM_047416054.1:c.1630C>T

Select item 14882489533.

rs1488248953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39323373 (GRCh38)
4:39324993 (GRCh37)
Canonical SPDI:: NC_000004.12:39323372:T:C
Gene:: RFC1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/2 (ALFA)
C=0.00022/1 (Estonian)
HGVS:: NC_000004.12:g.39323373T>C, NC_000004.11:g.39324993T>C, NM_002913.5:c.687A>G, NM_002913.4:c.687A>G, NM_001204747.2:c.687A>G, NM_001204747.1:c.687A>G, XM_011513731.2:c.687A>G, XM_011513731.1:c.687A>G, XR_007057951.1:n.808A>G

Select item 14874799874.

rs1487479987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:39320392 (GRCh38)
4:39322012 (GRCh37)
Canonical SPDI:: NC_000004.12:39320391:A:T
Gene:: RFC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.01951/57 (KOREAN)
HGVS:: NC_000004.12:g.39320392A>T, NC_000004.11:g.39322012A>T, NM_002913.5:c.1086T>A, NM_002913.4:c.1086T>A, NM_001204747.2:c.1086T>A, NM_001204747.1:c.1086T>A, NM_001363496.2:c.1008T>A, NM_001363496.1:c.1008T>A, NM_001363495.2:c.1008T>A, NM_001363495.1:c.1008T>A, XM_011513731.2:c.1086T>A, XM_011513731.1:c.1086T>A, XM_047416054.1:c.1008T>A, XR_007057951.1:n.1207T>A

Select item 14861290725.

rs1486129072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:39289943 (GRCh38)
4:39291563 (GRCh37)
Canonical SPDI:: NC_000004.12:39289942:A:G,NC_000004.12:39289942:A:T
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.39289943A>G, NC_000004.12:g.39289943A>T, NC_000004.11:g.39291563A>G, NC_000004.11:g.39291563A>T, NM_002913.5:c.3265T>C, NM_002913.5:c.3265T>A, NM_002913.4:c.3265T>C, NM_002913.4:c.3265T>A, NM_001204747.2:c.3268T>C, NM_001204747.2:c.3268T>A, NM_001204747.1:c.3268T>C, NM_001204747.1:c.3268T>A, NM_001363496.2:c.3190T>C, NM_001363496.2:c.3190T>A, NM_001363496.1:c.3190T>C, NM_001363496.1:c.3190T>A, NM_001363495.2:c.3187T>C, NM_001363495.2:c.3187T>A, NM_001363495.1:c.3187T>C, NM_001363495.1:c.3187T>A, XM_011513731.2:c.2758T>C, XM_011513731.2:c.2758T>A, XM_011513731.1:c.2758T>C, XM_011513731.1:c.2758T>A, XM_047416054.1:c.2680T>C, XM_047416054.1:c.2680T>A, NP_002904.3:p.Ser1089Pro, NP_002904.3:p.Ser1089Thr, NP_001191676.1:p.Ser1090Pro, NP_001191676.1:p.Ser1090Thr, NP_001350425.1:p.Ser1064Pro, NP_001350425.1:p.Ser1064Thr, NP_001350424.1:p.Ser1063Pro, NP_001350424.1:p.Ser1063Thr, XP_011512033.1:p.Ser920Pro, XP_011512033.1:p.Ser920Thr, XP_047272010.1:p.Ser894Pro, XP_047272010.1:p.Ser894Thr

Select item 14837585356.

rs1483758535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:39342466 (GRCh38)
4:39344086 (GRCh37)
Canonical SPDI:: NC_000004.12:39342465:A:C
Gene:: RFC1 (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=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.39342466A>C, NC_000004.11:g.39344086A>C, NM_002913.5:c.210T>G, NM_002913.4:c.210T>G, NM_001204747.2:c.210T>G, NM_001204747.1:c.210T>G, NM_001363496.2:c.210T>G, NM_001363496.1:c.210T>G, NM_001363495.2:c.210T>G, NM_001363495.1:c.210T>G, XM_011513731.2:c.210T>G, XM_011513731.1:c.210T>G, XM_047416054.1:c.210T>G, XR_007057951.1:n.331T>G, NP_002904.3:p.Asp70Glu, NP_001191676.1:p.Asp70Glu, NP_001350425.1:p.Asp70Glu, NP_001350424.1:p.Asp70Glu, XP_011512033.1:p.Asp70Glu, XP_047272010.1:p.Asp70Glu

Select item 14824642627.

rs1482464262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:39300264 (GRCh38)
4:39301884 (GRCh37)
Canonical SPDI:: NC_000004.12:39300263:C:A
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.39300264C>A, NC_000004.11:g.39301884C>A, NM_002913.5:c.2686G>T, NM_002913.4:c.2686G>T, NM_001204747.2:c.2689G>T, NM_001204747.1:c.2689G>T, NM_001363496.2:c.2611G>T, NM_001363496.1:c.2611G>T, NM_001363495.2:c.2608G>T, NM_001363495.1:c.2608G>T, XM_011513731.2:c.2179G>T, XM_011513731.1:c.2179G>T, XM_047416054.1:c.2101G>T, NP_002904.3:p.Ala896Ser, NP_001191676.1:p.Ala897Ser, NP_001350425.1:p.Ala871Ser, NP_001350424.1:p.Ala870Ser, XP_011512033.1:p.Ala727Ser, XP_047272010.1:p.Ala701Ser

Select item 14811748288.

rs1481174828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39327537 (GRCh38)
4:39329157 (GRCh37)
Canonical SPDI:: NC_000004.12:39327536:C:T
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39327537C>T, NC_000004.11:g.39329157C>T, NM_002913.5:c.551G>A, NM_002913.4:c.551G>A, NM_001204747.2:c.551G>A, NM_001204747.1:c.551G>A, NM_001363496.2:c.551G>A, NM_001363496.1:c.551G>A, NM_001363495.2:c.551G>A, NM_001363495.1:c.551G>A, XM_011513731.2:c.551G>A, XM_011513731.1:c.551G>A, XM_047416054.1:c.551G>A, XR_007057951.1:n.672G>A, NP_002904.3:p.Ser184Asn, NP_001191676.1:p.Ser184Asn, NP_001350425.1:p.Ser184Asn, NP_001350424.1:p.Ser184Asn, XP_011512033.1:p.Ser184Asn, XP_047272010.1:p.Ser184Asn

Select item 14790359819.

rs1479035981 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:39311448 (GRCh38)
4:39313068 (GRCh37)
Canonical SPDI:: NC_000004.12:39311447:A:C
Gene:: RFC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39311448A>C, NC_000004.11:g.39313068A>C, NM_002913.5:c.1485T>G, NM_002913.4:c.1485T>G, NM_001204747.2:c.1485T>G, NM_001204747.1:c.1485T>G, NM_001363496.2:c.1407T>G, NM_001363496.1:c.1407T>G, NM_001363495.2:c.1407T>G, NM_001363495.1:c.1407T>G, XM_011513731.2:c.1485T>G, XM_011513731.1:c.1485T>G, XM_047416054.1:c.1407T>G, XR_007057951.1:n.1606T>G

Select item 147559644810.

rs1475596448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:39300381 (GRCh38)
4:39302001 (GRCh37)
Canonical SPDI:: NC_000004.12:39300380:C:A
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000004.12:g.39300381C>A, NC_000004.11:g.39302001C>A, NM_002913.5:c.2569G>T, NM_002913.4:c.2569G>T, NM_001204747.2:c.2572G>T, NM_001204747.1:c.2572G>T, NM_001363496.2:c.2494G>T, NM_001363496.1:c.2494G>T, NM_001363495.2:c.2491G>T, NM_001363495.1:c.2491G>T, XM_011513731.2:c.2062G>T, XM_011513731.1:c.2062G>T, XM_047416054.1:c.1984G>T, NP_002904.3:p.Ala857Ser, NP_001191676.1:p.Ala858Ser, NP_001350425.1:p.Ala832Ser, NP_001350424.1:p.Ala831Ser, XP_011512033.1:p.Ala688Ser, XP_047272010.1:p.Ala662Ser

Select item 147251475211.

rs1472514752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:39304862 (GRCh38)
4:39306482 (GRCh37)
Canonical SPDI:: NC_000004.12:39304861:T:A
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000004.12:g.39304862T>A, NC_000004.11:g.39306482T>A, NM_002913.5:c.2062A>T, NM_002913.4:c.2062A>T, NM_001204747.2:c.2065A>T, NM_001204747.1:c.2065A>T, NM_001363496.2:c.1987A>T, NM_001363496.1:c.1987A>T, NM_001363495.2:c.1984A>T, NM_001363495.1:c.1984A>T, XM_011513731.2:c.1555A>T, XM_011513731.1:c.1555A>T, XM_047416054.1:c.1477A>T, XR_007057951.1:n.2073A>T, NP_002904.3:p.Ile688Phe, NP_001191676.1:p.Ile689Phe, NP_001350425.1:p.Ile663Phe, NP_001350424.1:p.Ile662Phe, XP_011512033.1:p.Ile519Phe, XP_047272010.1:p.Ile493Phe

Select item 147056254212.

rs1470562542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39302298 (GRCh38)
4:39303918 (GRCh37)
Canonical SPDI:: NC_000004.12:39302297:C:T
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000004.12:g.39302298C>T, NC_000004.11:g.39303918C>T, NM_002913.5:c.2515G>A, NM_002913.4:c.2515G>A, NM_001204747.2:c.2518G>A, NM_001204747.1:c.2518G>A, NM_001363496.2:c.2440G>A, NM_001363496.1:c.2440G>A, NM_001363495.2:c.2437G>A, NM_001363495.1:c.2437G>A, XM_011513731.2:c.2008G>A, XM_011513731.1:c.2008G>A, XM_047416054.1:c.1930G>A, NP_002904.3:p.Ala839Thr, NP_001191676.1:p.Ala840Thr, NP_001350425.1:p.Ala814Thr, NP_001350424.1:p.Ala813Thr, XP_011512033.1:p.Ala670Thr, XP_047272010.1:p.Ala644Thr

Select item 147051976913.

rs1470519769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:39291821 (GRCh38)
4:39293441 (GRCh37)
Canonical SPDI:: NC_000004.12:39291820:C:G,NC_000004.12:39291820:C:T
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39291821C>G, NC_000004.12:g.39291821C>T, NC_000004.11:g.39293441C>G, NC_000004.11:g.39293441C>T, NM_002913.5:c.2986G>C, NM_002913.5:c.2986G>A, NM_002913.4:c.2986G>C, NM_002913.4:c.2986G>A, NM_001204747.2:c.2989G>C, NM_001204747.2:c.2989G>A, NM_001204747.1:c.2989G>C, NM_001204747.1:c.2989G>A, NM_001363496.2:c.2911G>C, NM_001363496.2:c.2911G>A, NM_001363496.1:c.2911G>C, NM_001363496.1:c.2911G>A, NM_001363495.2:c.2908G>C, NM_001363495.2:c.2908G>A, NM_001363495.1:c.2908G>C, NM_001363495.1:c.2908G>A, XM_011513731.2:c.2479G>C, XM_011513731.2:c.2479G>A, XM_011513731.1:c.2479G>C, XM_011513731.1:c.2479G>A, XM_047416054.1:c.2401G>C, XM_047416054.1:c.2401G>A, NP_002904.3:p.Asp996His, NP_002904.3:p.Asp996Asn, NP_001191676.1:p.Asp997His, NP_001191676.1:p.Asp997Asn, NP_001350425.1:p.Asp971His, NP_001350425.1:p.Asp971Asn, NP_001350424.1:p.Asp970His, NP_001350424.1:p.Asp970Asn, XP_011512033.1:p.Asp827His, XP_011512033.1:p.Asp827Asn, XP_047272010.1:p.Asp801His, XP_047272010.1:p.Asp801Asn

Select item 147005137114.

rs1470051371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:39320549 (GRCh38)
4:39322169 (GRCh37)
Canonical SPDI:: NC_000004.12:39320548:A:G,NC_000004.12:39320548:A:T
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39320549A>G, NC_000004.12:g.39320549A>T, NC_000004.11:g.39322169A>G, NC_000004.11:g.39322169A>T, NM_002913.5:c.929T>C, NM_002913.5:c.929T>A, NM_002913.4:c.929T>C, NM_002913.4:c.929T>A, NM_001204747.2:c.929T>C, NM_001204747.2:c.929T>A, NM_001204747.1:c.929T>C, NM_001204747.1:c.929T>A, NM_001363496.2:c.851T>C, NM_001363496.2:c.851T>A, NM_001363496.1:c.851T>C, NM_001363496.1:c.851T>A, NM_001363495.2:c.851T>C, NM_001363495.2:c.851T>A, NM_001363495.1:c.851T>C, NM_001363495.1:c.851T>A, XM_011513731.2:c.929T>C, XM_011513731.2:c.929T>A, XM_011513731.1:c.929T>C, XM_011513731.1:c.929T>A, XM_047416054.1:c.851T>C, XM_047416054.1:c.851T>A, XR_007057951.1:n.1050T>C, XR_007057951.1:n.1050T>A, NP_002904.3:p.Val310Ala, NP_002904.3:p.Val310Asp, NP_001191676.1:p.Val310Ala, NP_001191676.1:p.Val310Asp, NP_001350425.1:p.Val284Ala, NP_001350425.1:p.Val284Asp, NP_001350424.1:p.Val284Ala, NP_001350424.1:p.Val284Asp, XP_011512033.1:p.Val310Ala, XP_011512033.1:p.Val310Asp, XP_047272010.1:p.Val284Ala, XP_047272010.1:p.Val284Asp

Select item 146984938115.

rs1469849381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:39295714 (GRCh38)
4:39297334 (GRCh37)
Canonical SPDI:: NC_000004.12:39295713:T:C,NC_000004.12:39295713:T:G
Gene:: RFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.39295714T>C, NC_000004.12:g.39295714T>G, NC_000004.11:g.39297334T>C, NC_000004.11:g.39297334T>G, NM_002913.5:c.2854A>G, NM_002913.5:c.2854A>C, NM_002913.4:c.2854A>G, NM_002913.4:c.2854A>C, NM_001204747.2:c.2857A>G, NM_001204747.2:c.2857A>C, NM_001204747.1:c.2857A>G, NM_001204747.1:c.2857A>C, NM_001363496.2:c.2779A>G, NM_001363496.2:c.2779A>C, NM_001363496.1:c.2779A>G, NM_001363496.1:c.2779A>C, NM_001363495.2:c.2776A>G, NM_001363495.2:c.2776A>C, NM_001363495.1:c.2776A>G, NM_001363495.1:c.2776A>C, XM_011513731.2:c.2347A>G, XM_011513731.2:c.2347A>C, XM_011513731.1:c.2347A>G, XM_011513731.1:c.2347A>C, XM_047416054.1:c.2269A>G, XM_047416054.1:c.2269A>C, NP_002904.3:p.Met952Val, NP_002904.3:p.Met952Leu, NP_001191676.1:p.Met953Val, NP_001191676.1:p.Met953Leu, NP_001350425.1:p.Met927Val, NP_001350425.1:p.Met927Leu, NP_001350424.1:p.Met926Val, NP_001350424.1:p.Met926Leu, XP_011512033.1:p.Met783Val, XP_011512033.1:p.Met783Leu, XP_047272010.1:p.Met757Val, XP_047272010.1:p.Met757Leu

Select item 146784708816.

rs1467847088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39320524 (GRCh38)
4:39322144 (GRCh37)
Canonical SPDI:: NC_000004.12:39320523:C:T
Gene:: RFC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39320524C>T, NC_000004.11:g.39322144C>T, NM_002913.5:c.954G>A, NM_002913.4:c.954G>A, NM_001204747.2:c.954G>A, NM_001204747.1:c.954G>A, NM_001363496.2:c.876G>A, NM_001363496.1:c.876G>A, NM_001363495.2:c.876G>A, NM_001363495.1:c.876G>A, XM_011513731.2:c.954G>A, XM_011513731.1:c.954G>A, XM_047416054.1:c.876G>A, XR_007057951.1:n.1075G>A

Select item 146431267817.

rs1464312678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:39342398 (GRCh38)
4:39344018 (GRCh37)
Canonical SPDI:: NC_000004.12:39342397:G:A
Gene:: RFC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000004.12:g.39342398G>A, NC_000004.11:g.39344018G>A, NM_002913.5:c.278C>T, NM_002913.4:c.278C>T, NM_001204747.2:c.278C>T, NM_001204747.1:c.278C>T, NM_001363496.2:c.278C>T, NM_001363496.1:c.278C>T, NM_001363495.2:c.278C>T, NM_001363495.1:c.278C>T, XM_011513731.2:c.278C>T, XM_011513731.1:c.278C>T, XM_047416054.1:c.278C>T, XR_007057951.1:n.399C>T, NP_002904.3:p.Ser93Phe, NP_001191676.1:p.Ser93Phe, NP_001350425.1:p.Ser93Phe, NP_001350424.1:p.Ser93Phe, XP_011512033.1:p.Ser93Phe, XP_047272010.1:p.Ser93Phe

Select item 146408513318.

rs1464085133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39300315 (GRCh38)
4:39301935 (GRCh37)
Canonical SPDI:: NC_000004.12:39300314:T:C
Gene:: RFC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.39300315T>C, NC_000004.11:g.39301935T>C, NM_002913.5:c.2635A>G, NM_002913.4:c.2635A>G, NM_001204747.2:c.2638A>G, NM_001204747.1:c.2638A>G, NM_001363496.2:c.2560A>G, NM_001363496.1:c.2560A>G, NM_001363495.2:c.2557A>G, NM_001363495.1:c.2557A>G, XM_011513731.2:c.2128A>G, XM_011513731.1:c.2128A>G, XM_047416054.1:c.2050A>G, NP_002904.3:p.Ile879Val, NP_001191676.1:p.Ile880Val, NP_001350425.1:p.Ile854Val, NP_001350424.1:p.Ile853Val, XP_011512033.1:p.Ile710Val, XP_047272010.1:p.Ile684Val

Select item 146384326719.

rs1463843267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39345455 (GRCh38)
4:39347075 (GRCh37)
Canonical SPDI:: NC_000004.12:39345454:C:T
Gene:: RFC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39345455C>T, NC_000004.11:g.39347075C>T, NM_002913.5:c.154G>A, NM_002913.4:c.154G>A, NM_001204747.2:c.154G>A, NM_001204747.1:c.154G>A, NM_001363496.2:c.154G>A, NM_001363496.1:c.154G>A, NM_001363495.2:c.154G>A, NM_001363495.1:c.154G>A, XM_011513731.2:c.154G>A, XM_011513731.1:c.154G>A, XM_047416054.1:c.154G>A, XR_007057951.1:n.275G>A, NP_002904.3:p.Asp52Asn, NP_001191676.1:p.Asp52Asn, NP_001350425.1:p.Asp52Asn, NP_001350424.1:p.Asp52Asn, XP_011512033.1:p.Asp52Asn, XP_047272010.1:p.Asp52Asn

Select item 146190407020.

rs1461904070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:39295734 (GRCh38)
4:39297354 (GRCh37)
Canonical SPDI:: NC_000004.12:39295733:C:G
Gene:: RFC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39295734C>G, NC_000004.11:g.39297354C>G, NM_002913.5:c.2834G>C, NM_002913.4:c.2834G>C, NM_001204747.2:c.2837G>C, NM_001204747.1:c.2837G>C, NM_001363496.2:c.2759G>C, NM_001363496.1:c.2759G>C, NM_001363495.2:c.2756G>C, NM_001363495.1:c.2756G>C, XM_011513731.2:c.2327G>C, XM_011513731.1:c.2327G>C, XM_047416054.1:c.2249G>C, NP_002904.3:p.Gly945Ala, NP_001191676.1:p.Gly946Ala, NP_001350425.1:p.Gly920Ala, NP_001350424.1:p.Gly919Ala, XP_011512033.1:p.Gly776Ala, XP_047272010.1:p.Gly750Ala

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