SNP Links for Protein (Select 94536793) - SNP

Links from Protein

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Select item 14897178391.

rs1489717839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:83906386 (GRCh38)
1:84372069 (GRCh37)
Canonical SPDI:: NC_000001.11:83906385:G:A
Gene:: TTLL7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83906386G>A, NC_000001.10:g.84372069G>A, NM_024686.6:c.2070C>T, NM_024686.5:c.2070C>T, NM_024686.4:c.2070C>T, NM_001350214.2:c.2070C>T, NM_001350214.1:c.2070C>T, NM_001350215.2:c.1989C>T, NM_001350215.1:c.1989C>T, XM_047430691.1:c.1335C>T, XM_047430680.1:c.2070C>T

Select item 14895959592.

rs1489595959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:83947141 (GRCh38)
1:84412824 (GRCh37)
Canonical SPDI:: NC_000001.11:83947140:A:G
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83947141A>G, NC_000001.10:g.84412824A>G, NM_024686.6:c.489T>C, NM_024686.5:c.489T>C, NM_024686.4:c.489T>C, NM_001350214.2:c.489T>C, NM_001350214.1:c.489T>C, NM_001350215.2:c.408T>C, NM_001350215.1:c.408T>C, XM_047430691.1:c.-30T>C, XM_047430680.1:c.489T>C, XM_047430686.1:c.489T>C, XR_007063701.1:n.892T>C, XM_047430700.1:c.489T>C

Select item 14872621223.

rs1487262122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:83947276 (GRCh38)
1:84412959 (GRCh37)
Canonical SPDI:: NC_000001.11:83947275:G:A,NC_000001.11:83947275:G:C
Gene:: TTLL7 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.83947276G>A, NC_000001.11:g.83947276G>C, NC_000001.10:g.84412959G>A, NC_000001.10:g.84412959G>C, NM_024686.6:c.354C>T, NM_024686.6:c.354C>G, NM_024686.5:c.354C>T, NM_024686.5:c.354C>G, NM_024686.4:c.354C>T, NM_024686.4:c.354C>G, NM_001350214.2:c.354C>T, NM_001350214.2:c.354C>G, NM_001350214.1:c.354C>T, NM_001350214.1:c.354C>G, NM_001350215.2:c.273C>T, NM_001350215.2:c.273C>G, NM_001350215.1:c.273C>T, NM_001350215.1:c.273C>G, XM_047430680.1:c.354C>T, XM_047430680.1:c.354C>G, XM_047430686.1:c.354C>T, XM_047430686.1:c.354C>G, XR_007063701.1:n.757C>T, XR_007063701.1:n.757C>G, XM_047430700.1:c.354C>T, XM_047430700.1:c.354C>G, NP_078962.4:p.Ile118Met, NP_001337143.1:p.Ile118Met, NP_001337144.1:p.Ile91Met, XP_047286636.1:p.Ile118Met, XP_047286642.1:p.Ile118Met, XP_047286656.1:p.Ile118Met

Select item 14865170314.

rs1486517031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:83919701 (GRCh38)
1:84385384 (GRCh37)
Canonical SPDI:: NC_000001.11:83919700:T:G
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83919701T>G, NC_000001.10:g.84385384T>G, NM_024686.6:c.1498A>C, NM_024686.5:c.1498A>C, NM_024686.4:c.1498A>C, NM_001350214.2:c.1498A>C, NM_001350214.1:c.1498A>C, NM_001350215.2:c.1417A>C, NM_001350215.1:c.1417A>C, XM_047430691.1:c.763A>C, XM_047430680.1:c.1498A>C, XM_047430686.1:c.1498A>C, XR_007063701.1:n.1901A>C, XM_047430700.1:c.1498A>C, NP_078962.4:p.Lys500Gln, NP_001337143.1:p.Lys500Gln, NP_001337144.1:p.Lys473Gln, XP_047286647.1:p.Lys255Gln, XP_047286636.1:p.Lys500Gln, XP_047286642.1:p.Lys500Gln, XP_047286656.1:p.Lys500Gln

Select item 14861886635.

rs1486188663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:83921252 (GRCh38)
1:84386935 (GRCh37)
Canonical SPDI:: NC_000001.11:83921251:C:T
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.83921252C>T, NC_000001.10:g.84386935C>T, NM_024686.6:c.1285G>A, NM_024686.5:c.1285G>A, NM_024686.4:c.1285G>A, NM_001350214.2:c.1285G>A, NM_001350214.1:c.1285G>A, NM_001350215.2:c.1204G>A, NM_001350215.1:c.1204G>A, XM_047430691.1:c.550G>A, XM_047430680.1:c.1285G>A, XM_047430686.1:c.1285G>A, XR_007063701.1:n.1688G>A, XM_047430700.1:c.1285G>A, NP_078962.4:p.Glu429Lys, NP_001337143.1:p.Glu429Lys, NP_001337144.1:p.Glu402Lys, XP_047286647.1:p.Glu184Lys, XP_047286636.1:p.Glu429Lys, XP_047286642.1:p.Glu429Lys, XP_047286656.1:p.Glu429Lys

Select item 14858098386.

rs1485809838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:83911205 (GRCh38)
1:84376888 (GRCh37)
Canonical SPDI:: NC_000001.11:83911204:A:G
Gene:: TTLL7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.83911205A>G, NC_000001.10:g.84376888A>G, NM_024686.6:c.1746T>C, NM_024686.5:c.1746T>C, NM_024686.4:c.1746T>C, NM_001350214.2:c.1746T>C, NM_001350214.1:c.1746T>C, NM_001350215.2:c.1665T>C, NM_001350215.1:c.1665T>C, XM_047430691.1:c.1011T>C, XM_047430680.1:c.1746T>C, XM_047430686.1:c.1746T>C

Select item 14848271127.

rs1484827112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:83907456 (GRCh38)
1:84373139 (GRCh37)
Canonical SPDI:: NC_000001.11:83907455:C:T
Gene:: TTLL7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83907456C>T, NC_000001.10:g.84373139C>T, NM_024686.6:c.1992G>A, NM_024686.5:c.1992G>A, NM_024686.4:c.1992G>A, NM_001350214.2:c.1992G>A, NM_001350214.1:c.1992G>A, NM_001350215.2:c.1911G>A, NM_001350215.1:c.1911G>A, XM_047430691.1:c.1257G>A, XM_047430680.1:c.1992G>A, XM_047430686.1:c.1992G>A

Select item 14847602828.

rs1484760282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:83951872 (GRCh38)
1:84417555 (GRCh37)
Canonical SPDI:: NC_000001.11:83951871:T:C
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.83951872T>C, NC_000001.10:g.84417555T>C, NM_024686.6:c.130A>G, NM_024686.5:c.130A>G, NM_024686.4:c.130A>G, NM_001350214.2:c.130A>G, NM_001350214.1:c.130A>G, NM_001350215.2:c.49A>G, NM_001350215.1:c.49A>G, XM_047430680.1:c.130A>G, XM_047430686.1:c.130A>G, XR_007063701.1:n.533A>G, XM_047430700.1:c.130A>G, NP_078962.4:p.Asn44Asp, NP_001337143.1:p.Asn44Asp, NP_001337144.1:p.Asn17Asp, XP_047286636.1:p.Asn44Asp, XP_047286642.1:p.Asn44Asp, XP_047286656.1:p.Asn44Asp

Select item 14842029319.

rs1484202931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:83933623 (GRCh38)
1:84399306 (GRCh37)
Canonical SPDI:: NC_000001.11:83933622:C:G
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83933623C>G, NC_000001.10:g.84399306C>G, NM_024686.6:c.1032G>C, NM_024686.5:c.1032G>C, NM_024686.4:c.1032G>C, NM_001350214.2:c.1032G>C, NM_001350214.1:c.1032G>C, NM_001350215.2:c.951G>C, NM_001350215.1:c.951G>C, XM_047430691.1:c.297G>C, XM_047430680.1:c.1032G>C, XM_047430686.1:c.1032G>C, XR_007063701.1:n.1435G>C, XM_047430700.1:c.1032G>C, NP_078962.4:p.Lys344Asn, NP_001337143.1:p.Lys344Asn, NP_001337144.1:p.Lys317Asn, XP_047286647.1:p.Lys99Asn, XP_047286636.1:p.Lys344Asn, XP_047286642.1:p.Lys344Asn, XP_047286656.1:p.Lys344Asn

Select item 148417907910.

rs1484179079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:83890358 (GRCh38)
1:84356041 (GRCh37)
Canonical SPDI:: NC_000001.11:83890357:G:A
Gene:: TTLL7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83890358G>A, NC_000001.10:g.84356041G>A, NM_024686.6:c.2332C>T, NM_024686.5:c.2332C>T, NM_024686.4:c.2332C>T, NM_001350214.2:c.2332C>T, NM_001350214.1:c.2332C>T, NM_001350215.2:c.2251C>T, NM_001350215.1:c.2251C>T, XM_047430691.1:c.1597C>T, XM_047430680.1:c.2332C>T, NP_078962.4:p.Arg778Cys, NP_001337143.1:p.Arg778Cys, NP_001337144.1:p.Arg751Cys, XP_047286647.1:p.Arg533Cys, XP_047286636.1:p.Arg778Cys

Select item 148345271911.

rs1483452719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:83933679 (GRCh38)
1:84399362 (GRCh37)
Canonical SPDI:: NC_000001.11:83933678:C:G,NC_000001.11:83933678:C:T
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.83933679C>G, NC_000001.11:g.83933679C>T, NC_000001.10:g.84399362C>G, NC_000001.10:g.84399362C>T, NM_024686.6:c.976G>C, NM_024686.6:c.976G>A, NM_024686.5:c.976G>C, NM_024686.5:c.976G>A, NM_024686.4:c.976G>C, NM_024686.4:c.976G>A, NM_001350214.2:c.976G>C, NM_001350214.2:c.976G>A, NM_001350214.1:c.976G>C, NM_001350214.1:c.976G>A, NM_001350215.2:c.895G>C, NM_001350215.2:c.895G>A, NM_001350215.1:c.895G>C, NM_001350215.1:c.895G>A, XM_047430691.1:c.241G>C, XM_047430691.1:c.241G>A, XM_047430680.1:c.976G>C, XM_047430680.1:c.976G>A, XM_047430686.1:c.976G>C, XM_047430686.1:c.976G>A, XR_007063701.1:n.1379G>C, XR_007063701.1:n.1379G>A, XM_047430700.1:c.976G>C, XM_047430700.1:c.976G>A, NP_078962.4:p.Glu326Gln, NP_078962.4:p.Glu326Lys, NP_001337143.1:p.Glu326Gln, NP_001337143.1:p.Glu326Lys, NP_001337144.1:p.Glu299Gln, NP_001337144.1:p.Glu299Lys, XP_047286647.1:p.Glu81Gln, XP_047286647.1:p.Glu81Lys, XP_047286636.1:p.Glu326Gln, XP_047286636.1:p.Glu326Lys, XP_047286642.1:p.Glu326Gln, XP_047286642.1:p.Glu326Lys, XP_047286656.1:p.Glu326Gln, XP_047286656.1:p.Glu326Lys

Select item 148324928212.

rs1483249282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:83907537 (GRCh38)
1:84373220 (GRCh37)
Canonical SPDI:: NC_000001.11:83907536:C:A
Gene:: TTLL7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.83907537C>A, NC_000001.10:g.84373220C>A, NM_024686.6:c.1911G>T, NM_024686.5:c.1911G>T, NM_024686.4:c.1911G>T, NM_001350214.2:c.1911G>T, NM_001350214.1:c.1911G>T, NM_001350215.2:c.1830G>T, NM_001350215.1:c.1830G>T, XM_047430691.1:c.1176G>T, XM_047430680.1:c.1911G>T, XM_047430686.1:c.1911G>T

Select item 148188838613.

rs1481888386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:83883040 (GRCh38)
1:84348723 (GRCh37)
Canonical SPDI:: NC_000001.11:83883039:G:A
Gene:: TTLL7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83883040G>A, NC_000001.10:g.84348723G>A, NM_024686.6:c.2466C>T, NM_024686.5:c.2466C>T, NM_024686.4:c.2466C>T, NM_001350214.2:c.2466C>T, NM_001350214.1:c.2466C>T, NM_001350215.2:c.2385C>T, NM_001350215.1:c.2385C>T, XM_047430691.1:c.1731C>T

Select item 148175137714.

rs1481751377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:83949941 (GRCh38)
1:84415624 (GRCh37)
Canonical SPDI:: NC_000001.11:83949940:T:C
Gene:: TTLL7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.83949941T>C, NC_000001.10:g.84415624T>C, NM_024686.6:c.203A>G, NM_024686.5:c.203A>G, NM_024686.4:c.203A>G, NM_001350214.2:c.203A>G, NM_001350214.1:c.203A>G, NM_001350215.2:c.122A>G, NM_001350215.1:c.122A>G, XM_047430680.1:c.203A>G, XM_047430686.1:c.203A>G, XR_007063701.1:n.606A>G, XM_047430700.1:c.203A>G, NP_078962.4:p.Glu68Gly, NP_001337143.1:p.Glu68Gly, NP_001337144.1:p.Glu41Gly, XP_047286636.1:p.Glu68Gly, XP_047286642.1:p.Glu68Gly, XP_047286656.1:p.Glu68Gly

Select item 148027411215.

rs1480274112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:83907542 (GRCh38)
1:84373225 (GRCh37)
Canonical SPDI:: NC_000001.11:83907541:A:T
Gene:: TTLL7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83907542A>T, NC_000001.10:g.84373225A>T, NM_024686.6:c.1906T>A, NM_024686.5:c.1906T>A, NM_024686.4:c.1906T>A, NM_001350214.2:c.1906T>A, NM_001350214.1:c.1906T>A, NM_001350215.2:c.1825T>A, NM_001350215.1:c.1825T>A, XM_047430691.1:c.1171T>A, XM_047430680.1:c.1906T>A, XM_047430686.1:c.1906T>A, NP_078962.4:p.Ser636Thr, NP_001337143.1:p.Ser636Thr, NP_001337144.1:p.Ser609Thr, XP_047286647.1:p.Ser391Thr, XP_047286636.1:p.Ser636Thr, XP_047286642.1:p.Ser636Thr

Select item 147826334016.

rs1478263340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:83942631 (GRCh38)
1:84408314 (GRCh37)
Canonical SPDI:: NC_000001.11:83942630:C:A
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.83942631C>A, NC_000001.10:g.84408314C>A, NM_024686.6:c.555G>T, NM_024686.5:c.555G>T, NM_024686.4:c.555G>T, NM_001350214.2:c.555G>T, NM_001350214.1:c.555G>T, NM_001350215.2:c.474G>T, NM_001350215.1:c.474G>T, XM_047430680.1:c.555G>T, XM_047430686.1:c.555G>T, XR_007063701.1:n.958G>T, XM_047430700.1:c.555G>T, NP_078962.4:p.Leu185Phe, NP_001337143.1:p.Leu185Phe, NP_001337144.1:p.Leu158Phe, XP_047286636.1:p.Leu185Phe, XP_047286642.1:p.Leu185Phe, XP_047286656.1:p.Leu185Phe

Select item 147809162517.

rs1478091625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:83907585 (GRCh38)
1:84373268 (GRCh37)
Canonical SPDI:: NC_000001.11:83907584:A:C
Gene:: TTLL7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000001.11:g.83907585A>C, NC_000001.10:g.84373268A>C, NM_024686.6:c.1863T>G, NM_024686.5:c.1863T>G, NM_024686.4:c.1863T>G, NM_001350214.2:c.1863T>G, NM_001350214.1:c.1863T>G, NM_001350215.2:c.1782T>G, NM_001350215.1:c.1782T>G, XM_047430691.1:c.1128T>G, XM_047430680.1:c.1863T>G, XM_047430686.1:c.1863T>G, NP_078962.4:p.Phe621Leu, NP_001337143.1:p.Phe621Leu, NP_001337144.1:p.Phe594Leu, XP_047286647.1:p.Phe376Leu, XP_047286636.1:p.Phe621Leu, XP_047286642.1:p.Phe621Leu

Select item 147651824218.

rs1476518242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:83947185 (GRCh38)
1:84412868 (GRCh37)
Canonical SPDI:: NC_000001.11:83947184:T:G
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.83947185T>G, NC_000001.10:g.84412868T>G, NM_024686.6:c.445A>C, NM_024686.5:c.445A>C, NM_024686.4:c.445A>C, NM_001350214.2:c.445A>C, NM_001350214.1:c.445A>C, NM_001350215.2:c.364A>C, NM_001350215.1:c.364A>C, XM_047430691.1:c.-74A>C, XM_047430680.1:c.445A>C, XM_047430686.1:c.445A>C, XR_007063701.1:n.848A>C, XM_047430700.1:c.445A>C, NP_078962.4:p.Lys149Gln, NP_001337143.1:p.Lys149Gln, NP_001337144.1:p.Lys122Gln, XP_047286636.1:p.Lys149Gln, XP_047286642.1:p.Lys149Gln, XP_047286656.1:p.Lys149Gln

Select item 147609721719.

rs1476097217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:83942646 (GRCh38)
1:84408329 (GRCh37)
Canonical SPDI:: NC_000001.11:83942645:T:C
Gene:: TTLL7 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.83942646T>C, NC_000001.10:g.84408329T>C, NM_024686.6:c.540A>G, NM_024686.5:c.540A>G, NM_024686.4:c.540A>G, NM_001350214.2:c.540A>G, NM_001350214.1:c.540A>G, NM_001350215.2:c.459A>G, NM_001350215.1:c.459A>G, XM_047430680.1:c.540A>G, XM_047430686.1:c.540A>G, XR_007063701.1:n.943A>G, XM_047430700.1:c.540A>G

Select item 147524392620.

rs1475243926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:83917687 (GRCh38)
1:84383370 (GRCh37)
Canonical SPDI:: NC_000001.11:83917686:C:T
Gene:: TTLL7 (Varview)
Functional Consequence:: missense_variant,splice_acceptor_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.83917687C>T, NC_000001.10:g.84383370C>T, NM_024686.6:c.1504G>A, NM_024686.5:c.1504G>A, NM_024686.4:c.1504G>A, NM_001350214.2:c.1504G>A, NM_001350214.1:c.1504G>A, NM_001350215.2:c.1423G>A, NM_001350215.1:c.1423G>A, XM_047430691.1:c.769G>A, XM_047430680.1:c.1504G>A, XM_047430686.1:c.1504G>A, XR_007063701.1:n.1907G>A, NP_078962.4:p.Glu502Lys, NP_001337143.1:p.Glu502Lys, NP_001337144.1:p.Glu475Lys, XP_047286647.1:p.Glu257Lys, XP_047286636.1:p.Glu502Lys, XP_047286642.1:p.Glu502Lys

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