SNP Links for Protein (Select 46249416) - SNP

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Links from Protein

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Select item 14894442141.

rs1489444214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:41504098 (GRCh38)
15:41796296 (GRCh37)
Canonical SPDI:: NC_000015.10:41504097:C:G
Gene:: LTK (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41504098C>G, NC_000015.9:g.41796296C>G, NM_002344.6:c.2493G>C, NM_002344.5:c.2493G>C, NM_206961.4:c.2310G>C, NM_206961.3:c.2310G>C, XM_011521557.3:c.2373G>C, XM_011521557.2:c.2373G>C, XM_011521557.1:c.2373G>C, NM_001135685.2:c.2103G>C, NM_001135685.1:c.2103G>C, XM_024449919.2:c.1326G>C, XM_024449919.1:c.2376G>C, XM_047432499.1:c.2358G>C, XM_047432500.1:c.2325G>C, XM_047432501.1:c.2229G>C, XM_047432502.1:c.2118G>C, XM_047432505.1:c.1278G>C, XM_047432503.1:c.1326G>C, XM_047432506.1:c.1116G>C, NP_002335.2:p.Trp831Cys, NP_996844.1:p.Trp770Cys, XP_011519859.1:p.Trp791Cys, NP_001129157.1:p.Trp701Cys, XP_024305687.2:p.Trp442Cys, XP_047288455.1:p.Trp786Cys, XP_047288456.1:p.Trp775Cys, XP_047288457.1:p.Trp743Cys, XP_047288458.1:p.Trp706Cys, XP_047288461.1:p.Trp426Cys, XP_047288459.1:p.Trp442Cys, XP_047288462.1:p.Trp372Cys

Select item 14893136922.

rs1489313692 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGC>- [Show Flanks]
Chromosome:: 15:41513671 (GRCh38)
15:41805869 (GRCh37)
Canonical SPDI:: NC_000015.10:41513668:GCGGC:GC
Gene:: LTK (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: GC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.41513671_41513673del, NC_000015.9:g.41805869_41805871del, NM_002344.6:c.39_41del, NM_002344.5:c.39_41del, NM_206961.4:c.39_41del, NM_206961.3:c.39_41del, XM_011521557.3:c.39_41del, XM_011521557.2:c.39_41del, XM_011521557.1:c.39_41del, NM_001135685.2:c.39_41del, NM_001135685.1:c.39_41del, XM_047432499.1:c.39_41del, XM_047432500.1:c.39_41del, XM_047432501.1:c.39_41del, XM_047432502.1:c.39_41del, XR_007064446.1:n.157_159del, XR_007064447.1:n.157_159del, NP_002335.2:p.Ala14del, NP_996844.1:p.Ala14del, XP_011519859.1:p.Ala14del, NP_001129157.1:p.Ala14del, XP_047288455.1:p.Ala14del, XP_047288456.1:p.Ala14del, XP_047288457.1:p.Ala14del, XP_047288458.1:p.Ala14del

Select item 14891987693.

rs1489198769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:41513668 (GRCh38)
15:41805866 (GRCh37)
Canonical SPDI:: NC_000015.10:41513667:C:A
Gene:: LTK (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_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=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41513668C>A, NC_000015.9:g.41805866C>A, NM_002344.6:c.42G>T, NM_002344.5:c.42G>T, NM_206961.4:c.42G>T, NM_206961.3:c.42G>T, XM_011521557.3:c.42G>T, XM_011521557.2:c.42G>T, XM_011521557.1:c.42G>T, NM_001135685.2:c.42G>T, NM_001135685.1:c.42G>T, XM_047432499.1:c.42G>T, XM_047432500.1:c.42G>T, XM_047432501.1:c.42G>T, XM_047432502.1:c.42G>T, XR_007064446.1:n.160G>T, XR_007064447.1:n.160G>T

Select item 14884701754.

rs1488470175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:41511851 (GRCh38)
15:41804049 (GRCh37)
Canonical SPDI:: NC_000015.10:41511850:C:A
Gene:: LTK (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000015.10:g.41511851C>A, NC_000015.9:g.41804049C>A, NM_002344.6:c.623G>T, NM_002344.5:c.623G>T, NM_206961.4:c.623G>T, NM_206961.3:c.623G>T, XM_011521557.3:c.623G>T, XM_011521557.2:c.623G>T, XM_011521557.1:c.623G>T, NM_001135685.2:c.623G>T, NM_001135685.1:c.623G>T, XM_047432499.1:c.623G>T, XM_047432500.1:c.623G>T, XM_047432501.1:c.623G>T, XM_047432502.1:c.623G>T, XR_007064446.1:n.741G>T, XR_007064447.1:n.741G>T, NP_002335.2:p.Gly208Val, NP_996844.1:p.Gly208Val, XP_011519859.1:p.Gly208Val, NP_001129157.1:p.Gly208Val, XP_047288455.1:p.Gly208Val, XP_047288456.1:p.Gly208Val, XP_047288457.1:p.Gly208Val, XP_047288458.1:p.Gly208Val

Select item 14872412415.

rs1487241241 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 15:41505528 (GRCh38)
15:41797726 (GRCh37)
Canonical SPDI:: NC_000015.10:41505527:TT:T
Gene:: LTK (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000015.10:g.41505529del, NC_000015.9:g.41797727del, NM_002344.6:c.1700del, NM_002344.5:c.1700del, NM_206961.4:c.1517del, NM_206961.3:c.1517del, XM_011521557.3:c.1580del, XM_011521557.2:c.1580del, XM_011521557.1:c.1580del, NM_001135685.2:c.1310del, NM_001135685.1:c.1310del, XM_024449919.2:c.533del, XM_024449919.1:c.1583del, XM_047432499.1:c.1565del, XM_047432500.1:c.1532del, XM_047432501.1:c.1436del, XM_047432502.1:c.1325del, XM_047432505.1:c.485del, XM_047432503.1:c.533del, XR_007064446.1:n.1607del, XM_047432506.1:c.323del, NP_002335.2:p.Lys567fs, NP_996844.1:p.Lys506fs, XP_011519859.1:p.Lys527fs, NP_001129157.1:p.Lys437fs, XP_024305687.2:p.Lys178fs, XP_047288455.1:p.Lys522fs, XP_047288456.1:p.Lys511fs, XP_047288457.1:p.Lys479fs, XP_047288458.1:p.Lys442fs, XP_047288461.1:p.Lys162fs, XP_047288459.1:p.Lys178fs, XP_047288462.1:p.Lys108fs

Select item 14871786816.

rs1487178681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:41505287 (GRCh38)
15:41797485 (GRCh37)
Canonical SPDI:: NC_000015.10:41505286:C:G
Gene:: LTK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.41505287C>G, NC_000015.9:g.41797485C>G, NM_002344.6:c.1846G>C, NM_002344.5:c.1846G>C, NM_206961.4:c.1663G>C, NM_206961.3:c.1663G>C, XM_011521557.3:c.1726G>C, XM_011521557.2:c.1726G>C, XM_011521557.1:c.1726G>C, NM_001135685.2:c.1456G>C, NM_001135685.1:c.1456G>C, XM_024449919.2:c.679G>C, XM_024449919.1:c.1729G>C, XM_047432499.1:c.1711G>C, XM_047432500.1:c.1678G>C, XM_047432501.1:c.1582G>C, XM_047432502.1:c.1471G>C, XM_047432505.1:c.631G>C, XM_047432503.1:c.679G>C, XR_007064446.1:n.1753G>C, XM_047432506.1:c.469G>C, NP_002335.2:p.Val616Leu, NP_996844.1:p.Val555Leu, XP_011519859.1:p.Val576Leu, NP_001129157.1:p.Val486Leu, XP_024305687.2:p.Val227Leu, XP_047288455.1:p.Val571Leu, XP_047288456.1:p.Val560Leu, XP_047288457.1:p.Val528Leu, XP_047288458.1:p.Val491Leu, XP_047288461.1:p.Val211Leu, XP_047288459.1:p.Val227Leu, XP_047288462.1:p.Val157Leu

Select item 14865660877.

rs1486566087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:41508219 (GRCh38)
15:41800417 (GRCh37)
Canonical SPDI:: NC_000015.10:41508218:T:A
Gene:: LTK (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.41508219T>A, NC_000015.9:g.41800417T>A, NM_002344.6:c.1099A>T, NM_002344.5:c.1099A>T, NM_206961.4:c.916A>T, NM_206961.3:c.916A>T, XM_011521557.3:c.931A>T, XM_011521557.2:c.931A>T, XM_011521557.1:c.931A>T, NM_001135685.2:c.916A>T, NM_001135685.1:c.916A>T, XM_024449919.2:c.-117A>T, XM_024449919.1:c.934A>T, XM_047432499.1:c.916A>T, XM_047432500.1:c.931A>T, XM_047432501.1:c.931A>T, XM_047432502.1:c.931A>T, XM_047432505.1:c.-117A>T, XM_047432503.1:c.-117A>T, XR_007064446.1:n.1049A>T, XR_007064447.1:n.1049A>T, NP_002335.2:p.Thr367Ser, NP_996844.1:p.Thr306Ser, XP_011519859.1:p.Thr311Ser, NP_001129157.1:p.Thr306Ser, XP_047288455.1:p.Thr306Ser, XP_047288456.1:p.Thr311Ser, XP_047288457.1:p.Thr311Ser, XP_047288458.1:p.Thr311Ser

Select item 14850207488.

rs1485020748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:41512735 (GRCh38)
15:41804933 (GRCh37)
Canonical SPDI:: NC_000015.10:41512734:A:C
Gene:: LTK (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41512735A>C, NC_000015.9:g.41804933A>C, NM_002344.6:c.331T>G, NM_002344.5:c.331T>G, NM_206961.4:c.331T>G, NM_206961.3:c.331T>G, XM_011521557.3:c.331T>G, XM_011521557.2:c.331T>G, XM_011521557.1:c.331T>G, NM_001135685.2:c.331T>G, NM_001135685.1:c.331T>G, XM_047432499.1:c.331T>G, XM_047432500.1:c.331T>G, XM_047432501.1:c.331T>G, XM_047432502.1:c.331T>G, XR_007064446.1:n.449T>G, XR_007064447.1:n.449T>G, NP_002335.2:p.Trp111Gly, NP_996844.1:p.Trp111Gly, XP_011519859.1:p.Trp111Gly, NP_001129157.1:p.Trp111Gly, XP_047288455.1:p.Trp111Gly, XP_047288456.1:p.Trp111Gly, XP_047288457.1:p.Trp111Gly, XP_047288458.1:p.Trp111Gly

Select item 14841838439.

rs1484183843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41505955 (GRCh38)
15:41798153 (GRCh37)
Canonical SPDI:: NC_000015.10:41505954:C:T
Gene:: LTK (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000015.10:g.41505955C>T, NC_000015.9:g.41798153C>T, NM_002344.6:c.1592G>A, NM_002344.5:c.1592G>A, NM_206961.4:c.1409G>A, NM_206961.3:c.1409G>A, XM_011521557.3:c.1472G>A, XM_011521557.2:c.1472G>A, XM_011521557.1:c.1472G>A, XM_024449919.2:c.425G>A, XM_024449919.1:c.1475G>A, XM_047432499.1:c.1457G>A, XM_047432500.1:c.1424G>A, XM_047432501.1:c.1328G>A, XM_047432505.1:c.377G>A, XM_047432503.1:c.425G>A, XM_047432506.1:c.215G>A, XR_007064447.1:n.1426G>A, NP_002335.2:p.Gly531Asp, NP_996844.1:p.Gly470Asp, XP_011519859.1:p.Gly491Asp, XP_024305687.2:p.Gly142Asp, XP_047288455.1:p.Gly486Asp, XP_047288456.1:p.Gly475Asp, XP_047288457.1:p.Gly443Asp, XP_047288461.1:p.Gly126Asp, XP_047288459.1:p.Gly142Asp, XP_047288462.1:p.Gly72Asp

Select item 148316392210.

rs1483163922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41511491 (GRCh38)
15:41803689 (GRCh37)
Canonical SPDI:: NC_000015.10:41511490:G:A
Gene:: LTK (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.41511491G>A, NC_000015.9:g.41803689G>A, NM_002344.6:c.745C>T, NM_002344.5:c.745C>T, NM_206961.4:c.745C>T, NM_206961.3:c.745C>T, XM_011521557.3:c.745C>T, XM_011521557.2:c.745C>T, XM_011521557.1:c.745C>T, NM_001135685.2:c.745C>T, NM_001135685.1:c.745C>T, XM_047432499.1:c.745C>T, XM_047432500.1:c.745C>T, XM_047432501.1:c.745C>T, XM_047432502.1:c.745C>T, XR_007064446.1:n.863C>T, XR_007064447.1:n.863C>T, NP_002335.2:p.Gln249Ter, NP_996844.1:p.Gln249Ter, XP_011519859.1:p.Gln249Ter, NP_001129157.1:p.Gln249Ter, XP_047288455.1:p.Gln249Ter, XP_047288456.1:p.Gln249Ter, XP_047288457.1:p.Gln249Ter, XP_047288458.1:p.Gln249Ter

Select item 148222454911.

rs1482224549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41505408 (GRCh38)
15:41797606 (GRCh37)
Canonical SPDI:: NC_000015.10:41505407:G:A
Gene:: LTK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.41505408G>A, NC_000015.9:g.41797606G>A, NM_002344.6:c.1820C>T, NM_002344.5:c.1820C>T, NM_206961.4:c.1637C>T, NM_206961.3:c.1637C>T, XM_011521557.3:c.1700C>T, XM_011521557.2:c.1700C>T, XM_011521557.1:c.1700C>T, NM_001135685.2:c.1430C>T, NM_001135685.1:c.1430C>T, XM_024449919.2:c.653C>T, XM_024449919.1:c.1703C>T, XM_047432499.1:c.1685C>T, XM_047432500.1:c.1652C>T, XM_047432501.1:c.1556C>T, XM_047432502.1:c.1445C>T, XM_047432505.1:c.605C>T, XM_047432503.1:c.653C>T, XR_007064446.1:n.1727C>T, XM_047432506.1:c.443C>T, NP_002335.2:p.Pro607Leu, NP_996844.1:p.Pro546Leu, XP_011519859.1:p.Pro567Leu, NP_001129157.1:p.Pro477Leu, XP_024305687.2:p.Pro218Leu, XP_047288455.1:p.Pro562Leu, XP_047288456.1:p.Pro551Leu, XP_047288457.1:p.Pro519Leu, XP_047288458.1:p.Pro482Leu, XP_047288461.1:p.Pro202Leu, XP_047288459.1:p.Pro218Leu, XP_047288462.1:p.Pro148Leu

Select item 147970752112.

rs1479707521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41508076 (GRCh38)
15:41800274 (GRCh37)
Canonical SPDI:: NC_000015.10:41508075:G:A
Gene:: LTK (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41508076G>A, NC_000015.9:g.41800274G>A, NM_002344.6:c.1242C>T, NM_002344.5:c.1242C>T, NM_206961.4:c.1059C>T, NM_206961.3:c.1059C>T, XM_011521557.3:c.1074C>T, XM_011521557.2:c.1074C>T, XM_011521557.1:c.1074C>T, NM_001135685.2:c.1059C>T, NM_001135685.1:c.1059C>T, XM_024449919.2:c.27C>T, XM_024449919.1:c.1077C>T, XM_047432499.1:c.1059C>T, XM_047432500.1:c.1074C>T, XM_047432501.1:c.1074C>T, XM_047432502.1:c.1074C>T, XM_047432505.1:c.27C>T, XM_047432503.1:c.27C>T, XR_007064446.1:n.1192C>T, XR_007064447.1:n.1192C>T

Select item 147782515613.

rs1477825156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:41512760 (GRCh38)
15:41804958 (GRCh37)
Canonical SPDI:: NC_000015.10:41512759:G:T
Gene:: LTK (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41512760G>T, NC_000015.9:g.41804958G>T, NM_002344.6:c.306C>A, NM_002344.5:c.306C>A, NM_206961.4:c.306C>A, NM_206961.3:c.306C>A, XM_011521557.3:c.306C>A, XM_011521557.2:c.306C>A, XM_011521557.1:c.306C>A, NM_001135685.2:c.306C>A, NM_001135685.1:c.306C>A, XM_047432499.1:c.306C>A, XM_047432500.1:c.306C>A, XM_047432501.1:c.306C>A, XM_047432502.1:c.306C>A, XR_007064446.1:n.424C>A, XR_007064447.1:n.424C>A

Select item 147589691314.

rs1475896913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:41504396 (GRCh38)
15:41796594 (GRCh37)
Canonical SPDI:: NC_000015.10:41504395:A:G
Gene:: LTK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41504396A>G, NC_000015.9:g.41796594A>G, NM_002344.6:c.2292T>C, NM_002344.5:c.2292T>C, NM_206961.4:c.2109T>C, NM_206961.3:c.2109T>C, XM_011521557.3:c.2172T>C, XM_011521557.2:c.2172T>C, XM_011521557.1:c.2172T>C, NM_001135685.2:c.1902T>C, NM_001135685.1:c.1902T>C, XM_024449919.2:c.1125T>C, XM_024449919.1:c.2175T>C, XM_047432499.1:c.2157T>C, XM_047432500.1:c.2124T>C, XM_047432501.1:c.2028T>C, XM_047432502.1:c.1917T>C, XM_047432505.1:c.1077T>C, XM_047432503.1:c.1125T>C, XM_047432506.1:c.915T>C

Select item 147447527815.

rs1474475278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:41512833 (GRCh38)
15:41805031 (GRCh37)
Canonical SPDI:: NC_000015.10:41512832:C:G,NC_000015.10:41512832:C:T
Gene:: LTK (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.41512833C>G, NC_000015.10:g.41512833C>T, NC_000015.9:g.41805031C>G, NC_000015.9:g.41805031C>T, NM_002344.6:c.233G>C, NM_002344.6:c.233G>A, NM_002344.5:c.233G>C, NM_002344.5:c.233G>A, NM_206961.4:c.233G>C, NM_206961.4:c.233G>A, NM_206961.3:c.233G>C, NM_206961.3:c.233G>A, XM_011521557.3:c.233G>C, XM_011521557.3:c.233G>A, XM_011521557.2:c.233G>C, XM_011521557.2:c.233G>A, XM_011521557.1:c.233G>C, XM_011521557.1:c.233G>A, NM_001135685.2:c.233G>C, NM_001135685.2:c.233G>A, NM_001135685.1:c.233G>C, NM_001135685.1:c.233G>A, XM_047432499.1:c.233G>C, XM_047432499.1:c.233G>A, XM_047432500.1:c.233G>C, XM_047432500.1:c.233G>A, XM_047432501.1:c.233G>C, XM_047432501.1:c.233G>A, XM_047432502.1:c.233G>C, XM_047432502.1:c.233G>A, XR_007064446.1:n.351G>C, XR_007064446.1:n.351G>A, XR_007064447.1:n.351G>C, XR_007064447.1:n.351G>A, NP_002335.2:p.Arg78Pro, NP_002335.2:p.Arg78Gln, NP_996844.1:p.Arg78Pro, NP_996844.1:p.Arg78Gln, XP_011519859.1:p.Arg78Pro, XP_011519859.1:p.Arg78Gln, NP_001129157.1:p.Arg78Pro, NP_001129157.1:p.Arg78Gln, XP_047288455.1:p.Arg78Pro, XP_047288455.1:p.Arg78Gln, XP_047288456.1:p.Arg78Pro, XP_047288456.1:p.Arg78Gln, XP_047288457.1:p.Arg78Pro, XP_047288457.1:p.Arg78Gln, XP_047288458.1:p.Arg78Pro, XP_047288458.1:p.Arg78Gln

Select item 147400240016.

rs1474002400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:41504031 (GRCh38)
15:41796229 (GRCh37)
Canonical SPDI:: NC_000015.10:41504030:G:A,NC_000015.10:41504030:G:T
Gene:: ITPKA (Varview), LTK (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.41504031G>A, NC_000015.10:g.41504031G>T, NC_000015.9:g.41796229G>A, NC_000015.9:g.41796229G>T, NM_002344.6:c.2560C>T, NM_002344.6:c.2560C>A, NM_002344.5:c.2560C>T, NM_002344.5:c.2560C>A, NM_206961.4:c.2377C>T, NM_206961.4:c.2377C>A, NM_206961.3:c.2377C>T, NM_206961.3:c.2377C>A, XM_011521557.3:c.2440C>T, XM_011521557.3:c.2440C>A, XM_011521557.2:c.2440C>T, XM_011521557.2:c.2440C>A, XM_011521557.1:c.2440C>T, XM_011521557.1:c.2440C>A, NM_001135685.2:c.2170C>T, NM_001135685.2:c.2170C>A, NM_001135685.1:c.2170C>T, NM_001135685.1:c.2170C>A, XM_024449919.2:c.1393C>T, XM_024449919.2:c.1393C>A, XM_024449919.1:c.2443C>T, XM_024449919.1:c.2443C>A, XM_047432499.1:c.2425C>T, XM_047432499.1:c.2425C>A, XM_047432500.1:c.2392C>T, XM_047432500.1:c.2392C>A, XM_047432501.1:c.2296C>T, XM_047432501.1:c.2296C>A, XM_047432502.1:c.2185C>T, XM_047432502.1:c.2185C>A, XM_047432505.1:c.1345C>T, XM_047432505.1:c.1345C>A, XM_047432503.1:c.1393C>T, XM_047432503.1:c.1393C>A, XM_047432506.1:c.1183C>T, XM_047432506.1:c.1183C>A, NP_002335.2:p.Pro854Ser, NP_002335.2:p.Pro854Thr, NP_996844.1:p.Pro793Ser, NP_996844.1:p.Pro793Thr, XP_011519859.1:p.Pro814Ser, XP_011519859.1:p.Pro814Thr, NP_001129157.1:p.Pro724Ser, NP_001129157.1:p.Pro724Thr, XP_024305687.2:p.Pro465Ser, XP_024305687.2:p.Pro465Thr, XP_047288455.1:p.Pro809Ser, XP_047288455.1:p.Pro809Thr, XP_047288456.1:p.Pro798Ser, XP_047288456.1:p.Pro798Thr, XP_047288457.1:p.Pro766Ser, XP_047288457.1:p.Pro766Thr, XP_047288458.1:p.Pro729Ser, XP_047288458.1:p.Pro729Thr, XP_047288461.1:p.Pro449Ser, XP_047288461.1:p.Pro449Thr, XP_047288459.1:p.Pro465Ser, XP_047288459.1:p.Pro465Thr, XP_047288462.1:p.Pro395Ser, XP_047288462.1:p.Pro395Thr

Select item 147361791217.

rs1473617912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41507655 (GRCh38)
15:41799853 (GRCh37)
Canonical SPDI:: NC_000015.10:41507654:G:A
Gene:: LTK (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_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)
HGVS:: NC_000015.10:g.41507655G>A, NC_000015.9:g.41799853G>A, NM_002344.6:c.1252C>T, NM_002344.5:c.1252C>T, NM_206961.4:c.1069C>T, NM_206961.3:c.1069C>T, XM_011521557.3:c.1084C>T, XM_011521557.2:c.1084C>T, XM_011521557.1:c.1084C>T, NM_001135685.2:c.1069C>T, NM_001135685.1:c.1069C>T, XM_024449919.2:c.37C>T, XM_024449919.1:c.1087C>T, XM_047432499.1:c.1069C>T, XM_047432500.1:c.1084C>T, XM_047432502.1:c.1084C>T, XM_047432505.1:c.37C>T, XM_047432503.1:c.37C>T, XR_007064446.1:n.1202C>T, XR_007064447.1:n.1202C>T

Select item 147317635318.

rs1473176353 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCTCCCG>-,CCGCTCCCGCCGCTCCCG [Show Flanks]
Chromosome:: 15:41511442 (GRCh38)
15:41803640 (GRCh37)
Canonical SPDI:: NC_000015.10:41511435:CTCCCGCCGCTCCCG:CTCCCG,NC_000015.10:41511435:CTCCCGCCGCTCCCG:CTCCCGCCGCTCCCGCCGCTCCCG
Gene:: LTK (Varview)
Functional Consequence:: inframe_insertion,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCCGCCGCTCCCGCCGCTCCCG=0./0 (ALFA)
CTCCCGCCG=0.000008/2 (TOPMED)
CTCCCGCCG=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.41511442_41511450del, NC_000015.10:g.41511442_41511450dup, NC_000015.9:g.41803640_41803648del, NC_000015.9:g.41803640_41803648dup, NM_002344.6:c.792_800del, NM_002344.6:c.792_800dup, NM_002344.5:c.792_800del, NM_002344.5:c.792_800dup, NM_206961.4:c.792_800del, NM_206961.4:c.792_800dup, NM_206961.3:c.792_800del, NM_206961.3:c.792_800dup, XM_011521557.3:c.792_800del, XM_011521557.3:c.792_800dup, XM_011521557.2:c.792_800del, XM_011521557.2:c.792_800dup, XM_011521557.1:c.792_800del, XM_011521557.1:c.792_800dup, NM_001135685.2:c.792_800del, NM_001135685.2:c.792_800dup, NM_001135685.1:c.792_800del, NM_001135685.1:c.792_800dup, XM_047432499.1:c.792_800del, XM_047432499.1:c.792_800dup, XM_047432500.1:c.792_800del, XM_047432500.1:c.792_800dup, XM_047432501.1:c.792_800del, XM_047432501.1:c.792_800dup, XM_047432502.1:c.792_800del, XM_047432502.1:c.792_800dup, XR_007064446.1:n.910_918del, XR_007064446.1:n.910_918dup, XR_007064447.1:n.910_918del, XR_007064447.1:n.910_918dup, NP_002335.2:p.Ser264_Gly266del, NP_002335.2:p.Ser264_Gly266dup, NP_996844.1:p.Ser264_Gly266del, NP_996844.1:p.Ser264_Gly266dup, XP_011519859.1:p.Ser264_Gly266del, XP_011519859.1:p.Ser264_Gly266dup, NP_001129157.1:p.Ser264_Gly266del, NP_001129157.1:p.Ser264_Gly266dup, XP_047288455.1:p.Ser264_Gly266del, XP_047288455.1:p.Ser264_Gly266dup, XP_047288456.1:p.Ser264_Gly266del, XP_047288456.1:p.Ser264_Gly266dup, XP_047288457.1:p.Ser264_Gly266del, XP_047288457.1:p.Ser264_Gly266dup, XP_047288458.1:p.Ser264_Gly266del, XP_047288458.1:p.Ser264_Gly266dup

Select item 147305020619.

rs1473050206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41513096 (GRCh38)
15:41805294 (GRCh37)
Canonical SPDI:: NC_000015.10:41513095:C:T
Gene:: LTK (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.41513096C>T, NC_000015.9:g.41805294C>T, NM_002344.6:c.68G>A, NM_002344.5:c.68G>A, NM_206961.4:c.68G>A, NM_206961.3:c.68G>A, XM_011521557.3:c.68G>A, XM_011521557.2:c.68G>A, XM_011521557.1:c.68G>A, NM_001135685.2:c.68G>A, NM_001135685.1:c.68G>A, XM_047432499.1:c.68G>A, XM_047432500.1:c.68G>A, XM_047432501.1:c.68G>A, XM_047432502.1:c.68G>A, XR_007064446.1:n.186G>A, XR_007064447.1:n.186G>A, NP_002335.2:p.Gly23Glu, NP_996844.1:p.Gly23Glu, XP_011519859.1:p.Gly23Glu, NP_001129157.1:p.Gly23Glu, XP_047288455.1:p.Gly23Glu, XP_047288456.1:p.Gly23Glu, XP_047288457.1:p.Gly23Glu, XP_047288458.1:p.Gly23Glu

Select item 147183467720.

rs1471834677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41511912 (GRCh38)
15:41804110 (GRCh37)
Canonical SPDI:: NC_000015.10:41511911:C:T
Gene:: LTK (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41511912C>T, NC_000015.9:g.41804110C>T, NM_002344.6:c.562G>A, NM_002344.5:c.562G>A, NM_206961.4:c.562G>A, NM_206961.3:c.562G>A, XM_011521557.3:c.562G>A, XM_011521557.2:c.562G>A, XM_011521557.1:c.562G>A, NM_001135685.2:c.562G>A, NM_001135685.1:c.562G>A, XM_047432499.1:c.562G>A, XM_047432500.1:c.562G>A, XM_047432501.1:c.562G>A, XM_047432502.1:c.562G>A, XR_007064446.1:n.680G>A, XR_007064447.1:n.680G>A, NP_002335.2:p.Glu188Lys, NP_996844.1:p.Glu188Lys, XP_011519859.1:p.Glu188Lys, NP_001129157.1:p.Glu188Lys, XP_047288455.1:p.Glu188Lys, XP_047288456.1:p.Glu188Lys, XP_047288457.1:p.Glu188Lys, XP_047288458.1:p.Glu188Lys

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