SNP Links for Protein (Select 1191017694) - SNP

Links from Protein

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Select item 14908933261.

rs1490893326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:164939533 (GRCh38)
2:165796043 (GRCh37)
Canonical SPDI:: NC_000002.12:164939532:C:T
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164939533C>T, NC_000002.11:g.165796043C>T, NM_173512.3:c.220G>A, NM_173512.2:c.220G>A, NM_001351538.2:c.286G>A, NM_001351538.1:c.286G>A, NM_001351537.2:c.454G>A, NM_001351537.1:c.454G>A, NM_001199148.2:c.286G>A, NM_001199148.1:c.286G>A, NM_001351540.2:c.-314G>A, NM_001351540.1:c.-314G>A, NM_001351539.2:c.88G>A, NM_001351539.1:c.88G>A, NM_001394061.1:c.88G>A, NP_775783.1:p.Gly74Ser, NP_001338467.1:p.Gly96Ser, NP_001338466.1:p.Gly152Ser, NP_001186077.1:p.Gly96Ser, NP_001338468.1:p.Gly30Ser

Select item 14892462142.

rs1489246214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164908710 (GRCh38)
2:165765220 (GRCh37)
Canonical SPDI:: NC_000002.12:164908709:A:G
Gene:: SLC38A11 (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)
G=0.000566/9 (TOMMO)
HGVS:: NC_000002.12:g.164908710A>G, NC_000002.11:g.165765220A>G, NM_173512.3:c.791T>C, NM_173512.2:c.791T>C, NM_001351538.2:c.857T>C, NM_001351538.1:c.857T>C, NM_001351537.2:c.1025T>C, NM_001351537.1:c.1025T>C, NM_001199148.2:c.857T>C, NM_001199148.1:c.857T>C, NM_001351540.2:c.440T>C, NM_001351540.1:c.440T>C, NM_001351539.2:c.659T>C, NM_001351539.1:c.659T>C, NM_001394061.1:c.659T>C, NP_775783.1:p.Val264Ala, NP_001338467.1:p.Val286Ala, NP_001338466.1:p.Val342Ala, NP_001186077.1:p.Val286Ala, NP_001338469.1:p.Val147Ala, NP_001338468.1:p.Val220Ala

Select item 14887296093.

rs1488729609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164915135 (GRCh38)
2:165771645 (GRCh37)
Canonical SPDI:: NC_000002.12:164915134:A:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.164915135A>G, NC_000002.11:g.165771645A>G, NM_173512.3:c.593T>C, NM_173512.2:c.593T>C, NM_001351538.2:c.659T>C, NM_001351538.1:c.659T>C, NM_001351537.2:c.827T>C, NM_001351537.1:c.827T>C, NM_001199148.2:c.659T>C, NM_001199148.1:c.659T>C, NM_001351540.2:c.242T>C, NM_001351540.1:c.242T>C, NM_001351539.2:c.461T>C, NM_001351539.1:c.461T>C, NM_001394061.1:c.461T>C, NP_775783.1:p.Leu198Ser, NP_001338467.1:p.Leu220Ser, NP_001338466.1:p.Leu276Ser, NP_001186077.1:p.Leu220Ser, NP_001338469.1:p.Leu81Ser, NP_001338468.1:p.Leu154Ser

Select item 14851972154.

rs1485197215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164939521 (GRCh38)
2:165796031 (GRCh37)
Canonical SPDI:: NC_000002.12:164939520:T:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.164939521T>C, NC_000002.11:g.165796031T>C, NM_173512.3:c.232A>G, NM_173512.2:c.232A>G, NM_001351538.2:c.298A>G, NM_001351538.1:c.298A>G, NM_001351537.2:c.466A>G, NM_001351537.1:c.466A>G, NM_001199148.2:c.298A>G, NM_001199148.1:c.298A>G, NM_001351540.2:c.-302A>G, NM_001351540.1:c.-302A>G, NM_001351539.2:c.100A>G, NM_001351539.1:c.100A>G, NM_001394061.1:c.100A>G, NP_775783.1:p.Ile78Val, NP_001338467.1:p.Ile100Val, NP_001338466.1:p.Ile156Val, NP_001186077.1:p.Ile100Val, NP_001338468.1:p.Ile34Val

Select item 14793504935.

rs1479350493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164915929 (GRCh38)
2:165772439 (GRCh37)
Canonical SPDI:: NC_000002.12:164915928:A:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164915929A>G, NC_000002.11:g.165772439A>G, NM_173512.3:c.428T>C, NM_173512.2:c.428T>C, NM_001351538.2:c.494T>C, NM_001351538.1:c.494T>C, NM_001351537.2:c.662T>C, NM_001351537.1:c.662T>C, NM_001199148.2:c.494T>C, NM_001199148.1:c.494T>C, NM_001351540.2:c.77T>C, NM_001351540.1:c.77T>C, NM_001351539.2:c.296T>C, NM_001351539.1:c.296T>C, NM_001394061.1:c.296T>C, NP_775783.1:p.Ile143Thr, NP_001338467.1:p.Ile165Thr, NP_001338466.1:p.Ile221Thr, NP_001186077.1:p.Ile165Thr, NP_001338469.1:p.Ile26Thr, NP_001338468.1:p.Ile99Thr

Select item 14759144376.

rs1475914437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:164939547 (GRCh38)
2:165796057 (GRCh37)
Canonical SPDI:: NC_000002.12:164939546:T:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164939547T>G, NC_000002.11:g.165796057T>G, NM_173512.3:c.206A>C, NM_173512.2:c.206A>C, NM_001351538.2:c.272A>C, NM_001351538.1:c.272A>C, NM_001351537.2:c.440A>C, NM_001351537.1:c.440A>C, NM_001199148.2:c.272A>C, NM_001199148.1:c.272A>C, NM_001351540.2:c.-328A>C, NM_001351540.1:c.-328A>C, NM_001351539.2:c.74A>C, NM_001351539.1:c.74A>C, NM_001394061.1:c.74A>C, NP_775783.1:p.Glu69Ala, NP_001338467.1:p.Glu91Ala, NP_001338466.1:p.Glu147Ala, NP_001186077.1:p.Glu91Ala, NP_001338468.1:p.Glu25Ala

Select item 14716744057.

rs1471674405 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:164915965 (GRCh38)
2:165772476 (GRCh37)
Canonical SPDI:: NC_000002.12:164915965:TTTTT:TTTTTT
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.164915970dup, NC_000002.11:g.165772480dup, NM_173512.3:c.391dup, NM_173512.2:c.391dup, NM_001351538.2:c.457dup, NM_001351538.1:c.457dup, NM_001351537.2:c.625dup, NM_001351537.1:c.625dup, NM_001199148.2:c.457dup, NM_001199148.1:c.457dup, NM_001351540.2:c.40dup, NM_001351540.1:c.40dup, NM_001351539.2:c.259dup, NM_001351539.1:c.259dup, NM_001394061.1:c.259dup, NP_775783.1:p.Thr131fs, NP_001338467.1:p.Thr153fs, NP_001338466.1:p.Thr209fs, NP_001186077.1:p.Thr153fs, NP_001338469.1:p.Thr14fs, NP_001338468.1:p.Thr87fs

Select item 14695303888.

rs1469530388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:164944570 (GRCh38)
2:165801080 (GRCh37)
Canonical SPDI:: NC_000002.12:164944569:T:A
Gene:: SLC38A11 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.164944570T>A, NC_000002.11:g.165801080T>A, NM_001351538.2:c.261A>T, NM_001351538.1:c.261A>T, NM_001351537.2:c.429A>T, NM_001351537.1:c.429A>T, NM_001199148.2:c.261A>T, NM_001199148.1:c.261A>T, NM_001351539.2:c.63A>T, NM_001351539.1:c.63A>T, NM_001394061.1:c.63A>T

Select item 14669384029.

rs1466938402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164939460 (GRCh38)
2:165795970 (GRCh37)
Canonical SPDI:: NC_000002.12:164939459:T:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.164939460T>C, NC_000002.11:g.165795970T>C, NM_173512.3:c.293A>G, NM_173512.2:c.293A>G, NM_001351538.2:c.359A>G, NM_001351538.1:c.359A>G, NM_001351537.2:c.527A>G, NM_001351537.1:c.527A>G, NM_001199148.2:c.359A>G, NM_001199148.1:c.359A>G, NM_001351540.2:c.-241A>G, NM_001351540.1:c.-241A>G, NM_001351539.2:c.161A>G, NM_001351539.1:c.161A>G, NM_001394061.1:c.161A>G, NP_775783.1:p.Lys98Arg, NP_001338467.1:p.Lys120Arg, NP_001338466.1:p.Lys176Arg, NP_001186077.1:p.Lys120Arg, NP_001338468.1:p.Lys54Arg

Select item 146672879610.

rs1466728796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164915261 (GRCh38)
2:165771771 (GRCh37)
Canonical SPDI:: NC_000002.12:164915260:T:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.164915261T>C, NC_000002.11:g.165771771T>C, NM_173512.3:c.467A>G, NM_173512.2:c.467A>G, NM_001351538.2:c.533A>G, NM_001351538.1:c.533A>G, NM_001351537.2:c.701A>G, NM_001351537.1:c.701A>G, NM_001199148.2:c.533A>G, NM_001199148.1:c.533A>G, NM_001351540.2:c.116A>G, NM_001351540.1:c.116A>G, NM_001351539.2:c.335A>G, NM_001351539.1:c.335A>G, NM_001394061.1:c.335A>G, NP_775783.1:p.His156Arg, NP_001338467.1:p.His178Arg, NP_001338466.1:p.His234Arg, NP_001186077.1:p.His178Arg, NP_001338469.1:p.His39Arg, NP_001338468.1:p.His112Arg

Select item 146343200111.

rs1463432001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:164915934 (GRCh38)
2:165772444 (GRCh37)
Canonical SPDI:: NC_000002.12:164915933:A:T
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164915934A>T, NC_000002.11:g.165772444A>T, NM_173512.3:c.423T>A, NM_173512.2:c.423T>A, NM_001351538.2:c.489T>A, NM_001351538.1:c.489T>A, NM_001351537.2:c.657T>A, NM_001351537.1:c.657T>A, NM_001199148.2:c.489T>A, NM_001199148.1:c.489T>A, NM_001351540.2:c.72T>A, NM_001351540.1:c.72T>A, NM_001351539.2:c.291T>A, NM_001351539.1:c.291T>A, NM_001394061.1:c.291T>A, NP_775783.1:p.Asn141Lys, NP_001338467.1:p.Asn163Lys, NP_001338466.1:p.Asn219Lys, NP_001186077.1:p.Asn163Lys, NP_001338469.1:p.Asn24Lys, NP_001338468.1:p.Asn97Lys

Select item 145957954212.

rs1459579542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164898699 (GRCh38)
2:165755209 (GRCh37)
Canonical SPDI:: NC_000002.12:164898698:A:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.164898699A>G, NC_000002.11:g.165755209A>G, NM_173512.3:c.893T>C, NM_173512.2:c.893T>C, NM_001351538.2:c.959T>C, NM_001351538.1:c.959T>C, NM_001351537.2:c.1127T>C, NM_001351537.1:c.1127T>C, NM_001199148.2:c.959T>C, NM_001199148.1:c.959T>C, NM_001351540.2:c.542T>C, NM_001351540.1:c.542T>C, NM_001351539.2:c.761T>C, NM_001351539.1:c.761T>C, NP_775783.1:p.Ile298Thr, NP_001338467.1:p.Ile320Thr, NP_001338466.1:p.Ile376Thr, NP_001186077.1:p.Ile320Thr, NP_001338469.1:p.Ile181Thr, NP_001338468.1:p.Ile254Thr

Select item 145268092513.

rs1452680925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:164898696 (GRCh38)
2:165755206 (GRCh37)
Canonical SPDI:: NC_000002.12:164898695:A:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164898696A>C, NC_000002.11:g.165755206A>C, NM_173512.3:c.896T>G, NM_173512.2:c.896T>G, NM_001351538.2:c.962T>G, NM_001351538.1:c.962T>G, NM_001351537.2:c.1130T>G, NM_001351537.1:c.1130T>G, NM_001199148.2:c.962T>G, NM_001199148.1:c.962T>G, NM_001351540.2:c.545T>G, NM_001351540.1:c.545T>G, NM_001351539.2:c.764T>G, NM_001351539.1:c.764T>G, NP_775783.1:p.Ile299Ser, NP_001338467.1:p.Ile321Ser, NP_001338466.1:p.Ile377Ser, NP_001186077.1:p.Ile321Ser, NP_001338469.1:p.Ile182Ser, NP_001338468.1:p.Ile255Ser

Select item 145210617014.

rs1452106170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:164937421 (GRCh38)
2:165793931 (GRCh37)
Canonical SPDI:: NC_000002.12:164937420:G:A
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.164937421G>A, NC_000002.11:g.165793931G>A, NM_173512.3:c.312C>T, NM_173512.2:c.312C>T, NM_001351538.2:c.378C>T, NM_001351538.1:c.378C>T, NM_001351537.2:c.546C>T, NM_001351537.1:c.546C>T, NM_001199148.2:c.378C>T, NM_001199148.1:c.378C>T, NM_001351540.2:c.-40C>T, NM_001351540.1:c.-40C>T, NM_001351539.2:c.180C>T, NM_001351539.1:c.180C>T, NM_001394061.1:c.180C>T

Select item 145011883215.

rs1450118832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:164898647 (GRCh38)
2:165755157 (GRCh37)
Canonical SPDI:: NC_000002.12:164898646:G:A
Gene:: SLC38A11 (Varview)
Functional Consequence:: synonymous_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=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.164898647G>A, NC_000002.11:g.165755157G>A, NM_173512.3:c.945C>T, NM_173512.2:c.945C>T, NM_001351538.2:c.1011C>T, NM_001351538.1:c.1011C>T, NM_001351537.2:c.1179C>T, NM_001351537.1:c.1179C>T, NM_001199148.2:c.1011C>T, NM_001199148.1:c.1011C>T, NM_001351540.2:c.594C>T, NM_001351540.1:c.594C>T, NM_001351539.2:c.813C>T, NM_001351539.1:c.813C>T

Select item 144796608316.

rs1447966083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:164944601 (GRCh38)
2:165801111 (GRCh37)
Canonical SPDI:: NC_000002.12:164944600:G:A
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164944601G>A, NC_000002.11:g.165801111G>A, NM_001351538.2:c.230C>T, NM_001351538.1:c.230C>T, NM_001351537.2:c.398C>T, NM_001351537.1:c.398C>T, NM_001199148.2:c.230C>T, NM_001199148.1:c.230C>T, NM_001351539.2:c.32C>T, NM_001351539.1:c.32C>T, NM_001394061.1:c.32C>T, NP_001338467.1:p.Thr77Ile, NP_001338466.1:p.Thr133Ile, NP_001186077.1:p.Thr77Ile, NP_001338468.1:p.Thr11Ile

Select item 144678943217.

rs1446789432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164915218 (GRCh38)
2:165771728 (GRCh37)
Canonical SPDI:: NC_000002.12:164915217:T:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164915218T>C, NC_000002.11:g.165771728T>C, NM_173512.3:c.510A>G, NM_173512.2:c.510A>G, NM_001351538.2:c.576A>G, NM_001351538.1:c.576A>G, NM_001351537.2:c.744A>G, NM_001351537.1:c.744A>G, NM_001199148.2:c.576A>G, NM_001199148.1:c.576A>G, NM_001351540.2:c.159A>G, NM_001351540.1:c.159A>G, NM_001351539.2:c.378A>G, NM_001351539.1:c.378A>G, NM_001394061.1:c.378A>G

Select item 144658561418.

rs1446585614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:164898598 (GRCh38)
2:165755108 (GRCh37)
Canonical SPDI:: NC_000002.12:164898597:C:T
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.164898598C>T, NC_000002.11:g.165755108C>T, NM_173512.3:c.994G>A, NM_173512.2:c.994G>A, NM_001351538.2:c.1060G>A, NM_001351538.1:c.1060G>A, NM_001351537.2:c.1228G>A, NM_001351537.1:c.1228G>A, NM_001199148.2:c.1060G>A, NM_001199148.1:c.1060G>A, NM_001351540.2:c.643G>A, NM_001351540.1:c.643G>A, NM_001351539.2:c.862G>A, NM_001351539.1:c.862G>A, NP_775783.1:p.Val332Ile, NP_001338467.1:p.Val354Ile, NP_001338466.1:p.Val410Ile, NP_001186077.1:p.Val354Ile, NP_001338469.1:p.Val215Ile, NP_001338468.1:p.Val288Ile

Select item 144513693319.

rs1445136933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:164937411 (GRCh38)
2:165793921 (GRCh37)
Canonical SPDI:: NC_000002.12:164937410:C:T
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164937411C>T, NC_000002.11:g.165793921C>T, NM_173512.3:c.322G>A, NM_173512.2:c.322G>A, NM_001351538.2:c.388G>A, NM_001351538.1:c.388G>A, NM_001351537.2:c.556G>A, NM_001351537.1:c.556G>A, NM_001199148.2:c.388G>A, NM_001199148.1:c.388G>A, NM_001351540.2:c.-30G>A, NM_001351540.1:c.-30G>A, NM_001351539.2:c.190G>A, NM_001351539.1:c.190G>A, NM_001394061.1:c.190G>A, NP_775783.1:p.Gly108Ser, NP_001338467.1:p.Gly130Ser, NP_001338466.1:p.Gly186Ser, NP_001186077.1:p.Gly130Ser, NP_001338468.1:p.Gly64Ser

Select item 144330187920.

rs1443301879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164915225 (GRCh38)
2:165771735 (GRCh37)
Canonical SPDI:: NC_000002.12:164915224:T:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164915225T>C, NC_000002.11:g.165771735T>C, NM_173512.3:c.503A>G, NM_173512.2:c.503A>G, NM_001351538.2:c.569A>G, NM_001351538.1:c.569A>G, NM_001351537.2:c.737A>G, NM_001351537.1:c.737A>G, NM_001199148.2:c.569A>G, NM_001199148.1:c.569A>G, NM_001351540.2:c.152A>G, NM_001351540.1:c.152A>G, NM_001351539.2:c.371A>G, NM_001351539.1:c.371A>G, NM_001394061.1:c.371A>G, NP_775783.1:p.Glu168Gly, NP_001338467.1:p.Glu190Gly, NP_001338466.1:p.Glu246Gly, NP_001186077.1:p.Glu190Gly, NP_001338469.1:p.Glu51Gly, NP_001338468.1:p.Glu124Gly

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