SNP Links for Protein (Select 13236565) - SNP

Links from Protein

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Select item 14871261401.

rs1487126140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24814442 (GRCh38)
2:25037311 (GRCh37)
Canonical SPDI:: NC_000002.12:24814441:G:A
Gene:: CENPO (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.24814442G>A, NC_000002.11:g.25037311G>A, NM_024322.4:c.283G>A, NM_024322.3:c.283G>A, NM_024322.2:c.283G>A, NM_001199803.3:c.265G>A, NM_001199803.2:c.265G>A, NM_001199803.1:c.265G>A, NM_001322101.2:c.283G>A, NM_001322101.1:c.283G>A, NR_136183.2:n.333G>A, NR_136183.1:n.643G>A, NR_136182.2:n.333G>A, NR_136182.1:n.643G>A, NR_136184.2:n.314G>A, NR_136184.1:n.624G>A, NP_077298.1:p.Glu95Lys, NP_001186732.1:p.Glu89Lys, NP_001309030.1:p.Glu95Lys

Select item 14854276852.

rs1485427685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24814376 (GRCh38)
2:25037245 (GRCh37)
Canonical SPDI:: NC_000002.12:24814375:G:A
Gene:: CENPO (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24814376G>A, NC_000002.11:g.25037245G>A, NM_024322.4:c.217G>A, NM_024322.3:c.217G>A, NM_024322.2:c.217G>A, NM_001199803.3:c.199G>A, NM_001199803.2:c.199G>A, NM_001199803.1:c.199G>A, NM_001322101.2:c.217G>A, NM_001322101.1:c.217G>A, NR_136183.2:n.267G>A, NR_136183.1:n.577G>A, NR_136182.2:n.267G>A, NR_136182.1:n.577G>A, NR_136184.2:n.248G>A, NR_136184.1:n.558G>A, NP_077298.1:p.Val73Met, NP_001186732.1:p.Val67Met, NP_001309030.1:p.Val73Met

Select item 14828983983.

rs1482898398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24817774 (GRCh38)
2:25040643 (GRCh37)
Canonical SPDI:: NC_000002.12:24817773:G:A
Gene:: CENPO (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=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24817774G>A, NC_000002.11:g.25040643G>A, NM_024322.4:c.871G>A, NM_024322.3:c.871G>A, NM_024322.2:c.871G>A, NM_001199803.3:c.853G>A, NM_001199803.2:c.853G>A, NM_001199803.1:c.853G>A, NM_001322101.2:c.871G>A, NM_001322101.1:c.871G>A, NR_136183.2:n.921G>A, NR_136183.1:n.1231G>A, NR_136182.2:n.820G>A, NR_136182.1:n.1130G>A, NR_136184.2:n.801G>A, NR_136184.1:n.1111G>A, NP_077298.1:p.Gly291Arg, NP_001186732.1:p.Gly285Arg, NP_001309030.1:p.Gly291Arg

Select item 14750576104.

rs1475057610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:24814391 (GRCh38)
2:25037260 (GRCh37)
Canonical SPDI:: NC_000002.12:24814390:G:C
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24814391G>C, NC_000002.11:g.25037260G>C, NM_024322.4:c.232G>C, NM_024322.3:c.232G>C, NM_024322.2:c.232G>C, NM_001199803.3:c.214G>C, NM_001199803.2:c.214G>C, NM_001199803.1:c.214G>C, NM_001322101.2:c.232G>C, NM_001322101.1:c.232G>C, NR_136183.2:n.282G>C, NR_136183.1:n.592G>C, NR_136182.2:n.282G>C, NR_136182.1:n.592G>C, NR_136184.2:n.263G>C, NR_136184.1:n.573G>C, NP_077298.1:p.Ala78Pro, NP_001186732.1:p.Ala72Pro, NP_001309030.1:p.Ala78Pro

Select item 14747795235.

rs1474779523 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:24817723 (GRCh38)
2:25040592 (GRCh37)
Canonical SPDI:: NC_000002.12:24817720:CTCT:CT
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.24817721CT[1], NC_000002.11:g.25040590CT[1], NM_024322.4:c.820_821del, NM_024322.3:c.820_821del, NM_024322.2:c.820_821del, NM_001199803.3:c.802_803del, NM_001199803.2:c.802_803del, NM_001199803.1:c.802_803del, NM_001322101.2:c.820_821del, NM_001322101.1:c.820_821del, NR_136183.2:n.868CT[1], NR_136183.1:n.1178CT[1], NR_136182.2:n.767CT[1], NR_136182.1:n.1077CT[1], NR_136184.2:n.748CT[1], NR_136184.1:n.1058CT[1], NP_077298.1:p.Leu274fs, NP_001186732.1:p.Leu268fs, NP_001309030.1:p.Leu274fs

Select item 14731483126.

rs1473148312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:24815514 (GRCh38)
2:25038383 (GRCh37)
Canonical SPDI:: NC_000002.12:24815513:A:C
Gene:: CENPO (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.0087/16 (Korea1K)
HGVS:: NC_000002.12:g.24815514A>C, NC_000002.11:g.25038383A>C, NM_024322.4:c.352A>C, NM_024322.3:c.352A>C, NM_024322.2:c.352A>C, NM_001199803.3:c.334A>C, NM_001199803.2:c.334A>C, NM_001199803.1:c.334A>C, NM_001322101.2:c.352A>C, NM_001322101.1:c.352A>C, NR_136183.2:n.402A>C, NR_136183.1:n.712A>C, NP_077298.1:p.Thr118Pro, NP_001186732.1:p.Thr112Pro, NP_001309030.1:p.Thr118Pro

Select item 14724864117.

rs1472486411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24817714 (GRCh38)
2:25040583 (GRCh37)
Canonical SPDI:: NC_000002.12:24817713:C:T
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24817714C>T, NC_000002.11:g.25040583C>T, NM_024322.4:c.811C>T, NM_024322.3:c.811C>T, NM_024322.2:c.811C>T, NM_001199803.3:c.793C>T, NM_001199803.2:c.793C>T, NM_001199803.1:c.793C>T, NM_001322101.2:c.811C>T, NM_001322101.1:c.811C>T, NR_136183.2:n.861C>T, NR_136183.1:n.1171C>T, NR_136182.2:n.760C>T, NR_136182.1:n.1070C>T, NR_136184.2:n.741C>T, NR_136184.1:n.1051C>T, NP_077298.1:p.His271Tyr, NP_001186732.1:p.His265Tyr, NP_001309030.1:p.His271Tyr

Select item 14650682498.

rs1465068249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24799742 (GRCh38)
2:25022611 (GRCh37)
Canonical SPDI:: NC_000002.12:24799741:G:A
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24799742G>A, NC_000002.11:g.25022611G>A, NM_024322.4:c.114G>A, NM_024322.3:c.114G>A, NM_024322.2:c.114G>A, NM_001199803.3:c.96G>A, NM_001199803.2:c.96G>A, NM_001199803.1:c.96G>A, NM_001322101.2:c.114G>A, NM_001322101.1:c.114G>A, NR_136183.2:n.164G>A, NR_136183.1:n.474G>A, NR_136182.2:n.164G>A, NR_136182.1:n.474G>A, NR_136184.2:n.145G>A, NR_136184.1:n.455G>A

Select item 14649857759.

rs1464985775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:24815732 (GRCh38)
2:25038601 (GRCh37)
Canonical SPDI:: NC_000002.12:24815731:G:T
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24815732G>T, NC_000002.11:g.25038601G>T, NM_024322.4:c.570G>T, NM_024322.3:c.570G>T, NM_024322.2:c.570G>T, NM_001199803.3:c.552G>T, NM_001199803.2:c.552G>T, NM_001199803.1:c.552G>T, NM_001322101.2:c.570G>T, NM_001322101.1:c.570G>T, NR_136183.2:n.620G>T, NR_136183.1:n.930G>T, NR_136182.2:n.519G>T, NR_136182.1:n.829G>T, NR_136184.2:n.500G>T, NR_136184.1:n.810G>T, NP_077298.1:p.Arg190Ser, NP_001186732.1:p.Arg184Ser, NP_001309030.1:p.Arg190Ser

Select item 146415720510.

rs1464157205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:24815726 (GRCh38)
2:25038595 (GRCh37)
Canonical SPDI:: NC_000002.12:24815725:T:C
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24815726T>C, NC_000002.11:g.25038595T>C, NM_024322.4:c.564T>C, NM_024322.3:c.564T>C, NM_024322.2:c.564T>C, NM_001199803.3:c.546T>C, NM_001199803.2:c.546T>C, NM_001199803.1:c.546T>C, NM_001322101.2:c.564T>C, NM_001322101.1:c.564T>C, NR_136183.2:n.614T>C, NR_136183.1:n.924T>C, NR_136182.2:n.513T>C, NR_136182.1:n.823T>C, NR_136184.2:n.494T>C, NR_136184.1:n.804T>C

Select item 145850841411.

rs1458508414 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:24815660 (GRCh38)
2:25038529 (GRCh37)
Canonical SPDI:: NC_000002.12:24815659:AAAA:AAA
Gene:: CENPO (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.24815663del, NC_000002.11:g.25038532del, NM_024322.4:c.501del, NM_024322.3:c.501del, NM_024322.2:c.501del, NM_001199803.3:c.483del, NM_001199803.2:c.483del, NM_001199803.1:c.483del, NM_001322101.2:c.501del, NM_001322101.1:c.501del, NR_136183.2:n.551del, NR_136183.1:n.861del, NR_136182.2:n.450del, NR_136182.1:n.760del, NR_136184.2:n.431del, NR_136184.1:n.741del, NP_077298.1:p.Lys167fs, NP_001186732.1:p.Lys161fs, NP_001309030.1:p.Lys167fs

Select item 145596545012.

rs1455965450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24817797 (GRCh38)
2:25040666 (GRCh37)
Canonical SPDI:: NC_000002.12:24817796:G:A
Gene:: CENPO (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24817797G>A, NC_000002.11:g.25040666G>A, NM_024322.4:c.894G>A, NM_024322.3:c.894G>A, NM_024322.2:c.894G>A, NM_001199803.3:c.876G>A, NM_001199803.2:c.876G>A, NM_001199803.1:c.876G>A, NM_001322101.2:c.894G>A, NM_001322101.1:c.894G>A, NR_136183.2:n.944G>A, NR_136183.1:n.1254G>A, NR_136182.2:n.843G>A, NR_136182.1:n.1153G>A, NR_136184.2:n.824G>A, NR_136184.1:n.1134G>A

Select item 145588677413.

rs1455886774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:24815520 (GRCh38)
2:25038389 (GRCh37)
Canonical SPDI:: NC_000002.12:24815519:C:A,NC_000002.12:24815519:C:T
Gene:: CENPO (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24815520C>A, NC_000002.12:g.24815520C>T, NC_000002.11:g.25038389C>A, NC_000002.11:g.25038389C>T, NM_024322.4:c.358C>A, NM_024322.4:c.358C>T, NM_024322.3:c.358C>A, NM_024322.3:c.358C>T, NM_024322.2:c.358C>A, NM_024322.2:c.358C>T, NM_001199803.3:c.340C>A, NM_001199803.3:c.340C>T, NM_001199803.2:c.340C>A, NM_001199803.2:c.340C>T, NM_001199803.1:c.340C>A, NM_001199803.1:c.340C>T, NM_001322101.2:c.358C>A, NM_001322101.2:c.358C>T, NM_001322101.1:c.358C>A, NM_001322101.1:c.358C>T, NR_136183.2:n.408C>A, NR_136183.2:n.408C>T, NR_136183.1:n.718C>A, NR_136183.1:n.718C>T, NP_077298.1:p.Arg120Ter, NP_001186732.1:p.Arg114Ter, NP_001309030.1:p.Arg120Ter

Select item 145583168214.

rs1455831682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24815749 (GRCh38)
2:25038618 (GRCh37)
Canonical SPDI:: NC_000002.12:24815748:G:A
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24815749G>A, NC_000002.11:g.25038618G>A, NM_024322.4:c.587G>A, NM_024322.3:c.587G>A, NM_024322.2:c.587G>A, NM_001199803.3:c.569G>A, NM_001199803.2:c.569G>A, NM_001199803.1:c.569G>A, NM_001322101.2:c.587G>A, NM_001322101.1:c.587G>A, NR_136183.2:n.637G>A, NR_136183.1:n.947G>A, NR_136182.2:n.536G>A, NR_136182.1:n.846G>A, NR_136184.2:n.517G>A, NR_136184.1:n.827G>A, NP_077298.1:p.Arg196Gln, NP_001186732.1:p.Arg190Gln, NP_001309030.1:p.Arg196Gln

Select item 145279584215.

rs1452795842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24799823 (GRCh38)
2:25022692 (GRCh37)
Canonical SPDI:: NC_000002.12:24799822:G:A
Gene:: CENPO (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24799823G>A, NC_000002.11:g.25022692G>A, NM_024322.4:c.195G>A, NM_024322.3:c.195G>A, NM_024322.2:c.195G>A, NM_001199803.3:c.177G>A, NM_001199803.2:c.177G>A, NM_001199803.1:c.177G>A, NM_001322101.2:c.195G>A, NM_001322101.1:c.195G>A, NR_136183.2:n.245G>A, NR_136183.1:n.555G>A, NR_136182.2:n.245G>A, NR_136182.1:n.555G>A, NR_136184.2:n.226G>A, NR_136184.1:n.536G>A

Select item 144998791316.

rs1449987913 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:24815681 (GRCh38)
2:25038550 (GRCh37)
Canonical SPDI:: NC_000002.12:24815680:CC:C
Gene:: CENPO (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24815682del, NC_000002.11:g.25038551del, NM_024322.4:c.520del, NM_024322.3:c.520del, NM_024322.2:c.520del, NM_001199803.3:c.502del, NM_001199803.2:c.502del, NM_001199803.1:c.502del, NM_001322101.2:c.520del, NM_001322101.1:c.520del, NR_136183.2:n.570del, NR_136183.1:n.880del, NR_136182.2:n.469del, NR_136182.1:n.779del, NR_136184.2:n.450del, NR_136184.1:n.760del, NP_077298.1:p.Gln174fs, NP_001186732.1:p.Gln168fs, NP_001309030.1:p.Gln174fs

Select item 144018999017.

rs1440189990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24799705 (GRCh38)
2:25022574 (GRCh37)
Canonical SPDI:: NC_000002.12:24799704:C:T
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24799705C>T, NC_000002.11:g.25022574C>T, NM_024322.4:c.77C>T, NM_024322.3:c.77C>T, NM_024322.2:c.77C>T, NM_001199803.3:c.59C>T, NM_001199803.2:c.59C>T, NM_001199803.1:c.59C>T, NM_001322101.2:c.77C>T, NM_001322101.1:c.77C>T, NR_136183.2:n.127C>T, NR_136183.1:n.437C>T, NR_136182.2:n.127C>T, NR_136182.1:n.437C>T, NR_136184.2:n.108C>T, NR_136184.1:n.418C>T, NP_077298.1:p.Thr26Ile, NP_001186732.1:p.Thr20Ile, NP_001309030.1:p.Thr26Ile

Select item 143666693618.

rs1436666936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:24817685 (GRCh38)
2:25040554 (GRCh37)
Canonical SPDI:: NC_000002.12:24817684:C:A
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24817685C>A, NC_000002.11:g.25040554C>A, NM_024322.4:c.782C>A, NM_024322.3:c.782C>A, NM_024322.2:c.782C>A, NM_001199803.3:c.764C>A, NM_001199803.2:c.764C>A, NM_001199803.1:c.764C>A, NM_001322101.2:c.782C>A, NM_001322101.1:c.782C>A, NR_136183.2:n.832C>A, NR_136183.1:n.1142C>A, NR_136182.2:n.731C>A, NR_136182.1:n.1041C>A, NR_136184.2:n.712C>A, NR_136184.1:n.1022C>A, NP_077298.1:p.Ser261Tyr, NP_001186732.1:p.Ser255Tyr, NP_001309030.1:p.Ser261Tyr

Select item 143463208119.

rs1434632081 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:24815741 (GRCh38)
2:25038610 (GRCh37)
Canonical SPDI:: NC_000002.12:24815740:GG:G
Gene:: CENPO (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24815742del, NC_000002.11:g.25038611del, NM_024322.4:c.580del, NM_024322.3:c.580del, NM_024322.2:c.580del, NM_001199803.3:c.562del, NM_001199803.2:c.562del, NM_001199803.1:c.562del, NM_001322101.2:c.580del, NM_001322101.1:c.580del, NR_136183.2:n.630del, NR_136183.1:n.940del, NR_136182.2:n.529del, NR_136182.1:n.839del, NR_136184.2:n.510del, NR_136184.1:n.820del, NP_077298.1:p.Ala194fs, NP_001186732.1:p.Ala188fs, NP_001309030.1:p.Ala194fs

Select item 143369013620.

rs1433690136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:24793936 (GRCh38)
2:25016805 (GRCh37)
Canonical SPDI:: NC_000002.12:24793935:C:G
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.24793936C>G, NC_000002.11:g.25016805C>G, NG_054752.1:g.4447G>C, NM_024322.4:c.17C>G, NM_024322.3:c.17C>G, NM_024322.2:c.17C>G, NM_001322101.2:c.17C>G, NM_001322101.1:c.17C>G, NP_077298.1:p.Pro6Arg, NP_001309030.1:p.Pro6Arg

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