SNP Links for Protein (Select 768006055) - SNP

Links from Protein

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Select item 14897770121.

rs1489777012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58498669 (GRCh38)
19:59010036 (GRCh37)
Canonical SPDI:: NC_000019.10:58498668:G:A
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58498669G>A, NC_000019.9:g.59010036G>A, NG_047124.1:g.18397C>T, NM_012254.3:c.1919C>T, NM_012254.2:c.1919C>T, NM_001321196.2:c.1667C>T, NM_001321196.1:c.1667C>T, XM_011526364.3:c.1788C>T, XM_011526364.2:c.1788C>T, XM_011526364.1:c.1788C>T, NP_036386.1:p.Thr640Met, NP_001308125.1:p.Thr556Met

Select item 14865219472.

rs1486521947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58498647 (GRCh38)
19:59010014 (GRCh37)
Canonical SPDI:: NC_000019.10:58498646:C:T
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58498647C>T, NC_000019.9:g.59010014C>T, NG_047124.1:g.18419G>A, NM_012254.3:c.1941G>A, NM_012254.2:c.1941G>A, NM_001321196.2:c.1689G>A, NM_001321196.1:c.1689G>A, XM_011526364.3:c.1810G>A, XM_011526364.2:c.1810G>A, XM_011526364.1:c.1810G>A, XP_011524666.1:p.Val604Ile

Select item 14863622743.

rs1486362274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:58510917 (GRCh38)
19:59022284 (GRCh37)
Canonical SPDI:: NC_000019.10:58510916:G:A,NC_000019.10:58510916:G:C
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58510917G>A, NC_000019.10:g.58510917G>C, NC_000019.9:g.59022284G>A, NC_000019.9:g.59022284G>C, NG_047124.1:g.6149C>T, NG_047124.1:g.6149C>G, NM_012254.3:c.702C>T, NM_012254.3:c.702C>G, NM_012254.2:c.702C>T, NM_012254.2:c.702C>G, NM_001321196.2:c.450C>T, NM_001321196.2:c.450C>G, NM_001321196.1:c.450C>T, NM_001321196.1:c.450C>G, XM_011526364.3:c.702C>T, XM_011526364.3:c.702C>G, XM_011526364.2:c.702C>T, XM_011526364.2:c.702C>G, XM_011526364.1:c.702C>T, XM_011526364.1:c.702C>G, XM_017026214.3:c.702C>T, XM_017026214.3:c.702C>G, XM_017026214.2:c.702C>T, XM_017026214.2:c.702C>G, XM_017026214.1:c.702C>T, XM_017026214.1:c.702C>G, XR_001754024.2:n.2352G>A, XR_001754024.2:n.2352G>C, XR_001754024.1:n.2340G>A, XR_001754024.1:n.2340G>C, NP_036386.1:p.Ser234Arg, NP_001308125.1:p.Ser150Arg, XP_011524666.1:p.Ser234Arg, XP_016881703.1:p.Ser234Arg

Select item 14853728194.

rs1485372819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58501358 (GRCh38)
19:59012725 (GRCh37)
Canonical SPDI:: NC_000019.10:58501357:G:A
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58501358G>A, NC_000019.9:g.59012725G>A, NG_047124.1:g.15708C>T, NM_012254.3:c.1110C>T, NM_012254.2:c.1110C>T, NM_001321196.2:c.858C>T, NM_001321196.1:c.858C>T, XM_011526364.3:c.1110C>T, XM_011526364.2:c.1110C>T, XM_011526364.1:c.1110C>T, XM_017026214.3:c.1110C>T, XM_017026214.2:c.1110C>T, XM_017026214.1:c.1110C>T

Select item 14844032135.

rs1484403213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:58511708 (GRCh38)
19:59023075 (GRCh37)
Canonical SPDI:: NC_000019.10:58511707:C:A,NC_000019.10:58511707:C:G
Gene:: SLC27A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58511708C>A, NC_000019.10:g.58511708C>G, NC_000019.9:g.59023075C>A, NC_000019.9:g.59023075C>G, NG_047124.1:g.5358G>T, NG_047124.1:g.5358G>C, NM_012254.3:c.248G>T, NM_012254.3:c.248G>C, NM_012254.2:c.248G>T, NM_012254.2:c.248G>C, NM_001321196.2:c.248G>T, NM_001321196.2:c.248G>C, NM_001321196.1:c.248G>T, NM_001321196.1:c.248G>C, XM_011526364.3:c.248G>T, XM_011526364.3:c.248G>C, XM_011526364.2:c.248G>T, XM_011526364.2:c.248G>C, XM_011526364.1:c.248G>T, XM_011526364.1:c.248G>C, XM_017026214.3:c.248G>T, XM_017026214.3:c.248G>C, XM_017026214.2:c.248G>T, XM_017026214.2:c.248G>C, XM_017026214.1:c.248G>T, XM_017026214.1:c.248G>C, NP_036386.1:p.Gly83Val, NP_036386.1:p.Gly83Ala, NP_001308125.1:p.Gly83Val, NP_001308125.1:p.Gly83Ala, XP_011524666.1:p.Gly83Val, XP_011524666.1:p.Gly83Ala, XP_016881703.1:p.Gly83Val, XP_016881703.1:p.Gly83Ala

Select item 14838190656.

rs1483819065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:58511878 (GRCh38)
19:59023245 (GRCh37)
Canonical SPDI:: NC_000019.10:58511877:T:C
Gene:: SLC27A5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000013/2 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.58511878T>C, NC_000019.9:g.59023245T>C, NG_047124.1:g.5188A>G, NM_012254.3:c.78A>G, NM_012254.2:c.78A>G, NM_001321196.2:c.78A>G, NM_001321196.1:c.78A>G, XM_011526364.3:c.78A>G, XM_011526364.2:c.78A>G, XM_011526364.1:c.78A>G, XM_017026214.3:c.78A>G, XM_017026214.2:c.78A>G, XM_017026214.1:c.78A>G

Select item 14763524227.

rs1476352422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58510801 (GRCh38)
19:59022168 (GRCh37)
Canonical SPDI:: NC_000019.10:58510800:G:A
Gene:: SLC27A5 (Varview), LOC105372485 (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_000019.10:g.58510801G>A, NC_000019.9:g.59022168G>A, NG_047124.1:g.6265C>T, NM_012254.3:c.818C>T, NM_012254.2:c.818C>T, NM_001321196.2:c.566C>T, NM_001321196.1:c.566C>T, XM_011526364.3:c.818C>T, XM_011526364.2:c.818C>T, XM_011526364.1:c.818C>T, XM_017026214.3:c.818C>T, XM_017026214.2:c.818C>T, XM_017026214.1:c.818C>T, XR_001754024.2:n.2236G>A, XR_001754024.1:n.2224G>A, NP_036386.1:p.Ser273Phe, NP_001308125.1:p.Ser189Phe, XP_011524666.1:p.Ser273Phe, XP_016881703.1:p.Ser273Phe

Select item 14754210128.

rs1475421012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:58511766 (GRCh38)
19:59023133 (GRCh37)
Canonical SPDI:: NC_000019.10:58511765:G:C
Gene:: SLC27A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58511766G>C, NC_000019.9:g.59023133G>C, NG_047124.1:g.5300C>G, NM_012254.3:c.190C>G, NM_012254.2:c.190C>G, NM_001321196.2:c.190C>G, NM_001321196.1:c.190C>G, XM_011526364.3:c.190C>G, XM_011526364.2:c.190C>G, XM_011526364.1:c.190C>G, XM_017026214.3:c.190C>G, XM_017026214.2:c.190C>G, XM_017026214.1:c.190C>G, NP_036386.1:p.Leu64Val, NP_001308125.1:p.Leu64Val, XP_011524666.1:p.Leu64Val, XP_016881703.1:p.Leu64Val

Select item 14730152209.

rs1473015220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58511888 (GRCh38)
19:59023255 (GRCh37)
Canonical SPDI:: NC_000019.10:58511887:G:A
Gene:: SLC27A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.58511888G>A, NC_000019.9:g.59023255G>A, NG_047124.1:g.5178C>T, NM_012254.3:c.68C>T, NM_012254.2:c.68C>T, NM_001321196.2:c.68C>T, NM_001321196.1:c.68C>T, XM_011526364.3:c.68C>T, XM_011526364.2:c.68C>T, XM_011526364.1:c.68C>T, XM_017026214.3:c.68C>T, XM_017026214.2:c.68C>T, XM_017026214.1:c.68C>T, NP_036386.1:p.Pro23Leu, NP_001308125.1:p.Pro23Leu, XP_011524666.1:p.Pro23Leu, XP_016881703.1:p.Pro23Leu

Select item 147284245010.

rs1472842450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:58499123 (GRCh38)
19:59010490 (GRCh37)
Canonical SPDI:: NC_000019.10:58499122:C:A
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58499123C>A, NC_000019.9:g.59010490C>A, NG_047124.1:g.17943G>T, NM_012254.3:c.1765G>T, NM_012254.2:c.1765G>T, NM_001321196.2:c.1513G>T, NM_001321196.1:c.1513G>T, XM_011526364.3:c.1765G>T, XM_011526364.2:c.1765G>T, XM_011526364.1:c.1765G>T, NP_036386.1:p.Gly589Cys, NP_001308125.1:p.Gly505Cys, XP_011524666.1:p.Gly589Ter

Select item 147235837111.

rs1472358371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58511384 (GRCh38)
19:59022751 (GRCh37)
Canonical SPDI:: NC_000019.10:58511383:C:T
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,coding_sequence_variant,stop_gained,500B_downstream_variant
HGVS:: NC_000019.10:g.58511384C>T, NC_000019.9:g.59022751C>T, NG_047124.1:g.5682G>A, NM_012254.3:c.572G>A, NM_012254.2:c.572G>A, XM_011526364.3:c.572G>A, XM_011526364.2:c.572G>A, XM_011526364.1:c.572G>A, XM_017026214.3:c.572G>A, XM_017026214.2:c.572G>A, XM_017026214.1:c.572G>A, NP_036386.1:p.Trp191Ter, XP_011524666.1:p.Trp191Ter, XP_016881703.1:p.Trp191Ter

Select item 147150540812.

rs1471505408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:58509927 (GRCh38)
19:59021294 (GRCh37)
Canonical SPDI:: NC_000019.10:58509926:G:C
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58509927G>C, NC_000019.9:g.59021294G>C, NG_047124.1:g.7139C>G, NM_012254.3:c.977C>G, NM_012254.2:c.977C>G, NM_001321196.2:c.725C>G, NM_001321196.1:c.725C>G, XM_011526364.3:c.977C>G, XM_011526364.2:c.977C>G, XM_011526364.1:c.977C>G, XM_017026214.3:c.977C>G, XM_017026214.2:c.977C>G, XM_017026214.1:c.977C>G, XR_001754024.2:n.1362G>C, XR_001754024.1:n.1350G>C, NP_036386.1:p.Ala326Gly, NP_001308125.1:p.Ala242Gly, XP_011524666.1:p.Ala326Gly, XP_016881703.1:p.Ala326Gly

Select item 146996251413.

rs1469962514 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 19:58510728 (GRCh38)
19:59022095 (GRCh37)
Canonical SPDI:: NC_000019.10:58510727:CCCC:CCC,NC_000019.10:58510727:CCCC:CCCCC
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.58510731del, NC_000019.10:g.58510731dup, NC_000019.9:g.59022098del, NC_000019.9:g.59022098dup, NG_047124.1:g.6338del, NG_047124.1:g.6338dup, NM_012254.3:c.891del, NM_012254.3:c.891dup, NM_012254.2:c.891del, NM_012254.2:c.891dup, NM_001321196.2:c.639del, NM_001321196.2:c.639dup, NM_001321196.1:c.639del, NM_001321196.1:c.639dup, XM_011526364.3:c.891del, XM_011526364.3:c.891dup, XM_011526364.2:c.891del, XM_011526364.2:c.891dup, XM_011526364.1:c.891del, XM_011526364.1:c.891dup, XM_017026214.3:c.891del, XM_017026214.3:c.891dup, XM_017026214.2:c.891del, XM_017026214.2:c.891dup, XM_017026214.1:c.891del, XM_017026214.1:c.891dup, XR_001754024.2:n.2166del, XR_001754024.2:n.2166dup, XR_001754024.1:n.2154del, XR_001754024.1:n.2154dup, NP_036386.1:p.Thr298fs, NP_036386.1:p.Thr298fs, NP_001308125.1:p.Thr214fs, NP_001308125.1:p.Thr214fs, XP_011524666.1:p.Thr298fs, XP_011524666.1:p.Thr298fs, XP_016881703.1:p.Thr298fs, XP_016881703.1:p.Thr298fs

Select item 146565310914.

rs1465653109 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:58511778 (GRCh38)
19:59023145 (GRCh37)
Canonical SPDI:: NC_000019.10:58511777:CCC:CC
Gene:: SLC27A5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58511780del, NC_000019.9:g.59023147del, NG_047124.1:g.5288del, NM_012254.3:c.178del, NM_012254.2:c.178del, NM_001321196.2:c.178del, NM_001321196.1:c.178del, XM_011526364.3:c.178del, XM_011526364.2:c.178del, XM_011526364.1:c.178del, XM_017026214.3:c.178del, XM_017026214.2:c.178del, XM_017026214.1:c.178del, NP_036386.1:p.Val60fs, NP_001308125.1:p.Val60fs, XP_011524666.1:p.Val60fs, XP_016881703.1:p.Val60fs

Select item 146489907715.

rs1464899077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58511785 (GRCh38)
19:59023152 (GRCh37)
Canonical SPDI:: NC_000019.10:58511784:G:A
Gene:: SLC27A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.58511785G>A, NC_000019.9:g.59023152G>A, NG_047124.1:g.5281C>T, NM_012254.3:c.171C>T, NM_012254.2:c.171C>T, NM_001321196.2:c.171C>T, NM_001321196.1:c.171C>T, XM_011526364.3:c.171C>T, XM_011526364.2:c.171C>T, XM_011526364.1:c.171C>T, XM_017026214.3:c.171C>T, XM_017026214.2:c.171C>T, XM_017026214.1:c.171C>T

Select item 146267244516.

rs1462672445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58510743 (GRCh38)
19:59022110 (GRCh37)
Canonical SPDI:: NC_000019.10:58510742:G:A
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58510743G>A, NC_000019.9:g.59022110G>A, NG_047124.1:g.6323C>T, NM_012254.3:c.876C>T, NM_012254.2:c.876C>T, NM_001321196.2:c.624C>T, NM_001321196.1:c.624C>T, XM_011526364.3:c.876C>T, XM_011526364.2:c.876C>T, XM_011526364.1:c.876C>T, XM_017026214.3:c.876C>T, XM_017026214.2:c.876C>T, XM_017026214.1:c.876C>T, XR_001754024.2:n.2178G>A, XR_001754024.1:n.2166G>A

Select item 146178568617.

rs1461785686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58511275 (GRCh38)
19:59022642 (GRCh37)
Canonical SPDI:: NC_000019.10:58511274:C:T
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,intron_variant,synonymous_variant,downstream_transcript_variant
HGVS:: NC_000019.10:g.58511275C>T, NC_000019.9:g.59022642C>T, NG_047124.1:g.5791G>A, NM_012254.3:c.681G>A, NM_012254.2:c.681G>A, XM_011526364.3:c.681G>A, XM_011526364.2:c.681G>A, XM_011526364.1:c.681G>A, XM_017026214.3:c.681G>A, XM_017026214.2:c.681G>A, XM_017026214.1:c.681G>A

Select item 146032628618.

rs1460326286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:58511451 (GRCh38)
19:59022818 (GRCh37)
Canonical SPDI:: NC_000019.10:58511450:G:T
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,intron_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58511451G>T, NC_000019.9:g.59022818G>T, NG_047124.1:g.5615C>A, NM_012254.3:c.505C>A, NM_012254.2:c.505C>A, XM_011526364.3:c.505C>A, XM_011526364.2:c.505C>A, XM_011526364.1:c.505C>A, XM_017026214.3:c.505C>A, XM_017026214.2:c.505C>A, XM_017026214.1:c.505C>A, NP_036386.1:p.Leu169Met, XP_011524666.1:p.Leu169Met, XP_016881703.1:p.Leu169Met

Select item 145878384619.

rs1458783846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58500379 (GRCh38)
19:59011746 (GRCh37)
Canonical SPDI:: NC_000019.10:58500378:A:G
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.58500379A>G, NC_000019.9:g.59011746A>G, NG_047124.1:g.16687T>C, NM_012254.3:c.1428T>C, NM_012254.2:c.1428T>C, NM_001321196.2:c.1176T>C, NM_001321196.1:c.1176T>C, XM_011526364.3:c.1428T>C, XM_011526364.2:c.1428T>C, XM_011526364.1:c.1428T>C, XR_001754024.2:n.869A>G, XR_001754024.1:n.857A>G

Select item 145837815420.

rs1458378154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:58509988 (GRCh38)
19:59021355 (GRCh37)
Canonical SPDI:: NC_000019.10:58509987:T:C
Gene:: SLC27A5 (Varview), LOC105372485 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_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_000019.10:g.58509988T>C, NC_000019.9:g.59021355T>C, NG_047124.1:g.7078A>G, NM_012254.3:c.916A>G, NM_012254.2:c.916A>G, NM_001321196.2:c.664A>G, NM_001321196.1:c.664A>G, XM_011526364.3:c.916A>G, XM_011526364.2:c.916A>G, XM_011526364.1:c.916A>G, XM_017026214.3:c.916A>G, XM_017026214.2:c.916A>G, XM_017026214.1:c.916A>G, XR_001754024.2:n.1423T>C, XR_001754024.1:n.1411T>C, NP_036386.1:p.Ile306Val, NP_001308125.1:p.Ile222Val, XP_011524666.1:p.Ile306Val, XP_016881703.1:p.Ile306Val

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