SNP Links for Protein (Select 537544626) - SNP

Links from Protein

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Select item 14902130361.

rs1490213036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:115640475 (GRCh38)
X:114874787 (GRCh37)
Canonical SPDI:: NC_000023.11:115640474:G:A,NC_000023.11:115640474:G:T
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.115640475G>A, NC_000023.11:g.115640475G>T, NW_004070891.1:g.1309277G>A, NW_004070891.1:g.1309277G>T, NG_012518.2:g.84597G>A, NG_012518.2:g.84597G>T, NM_005032.7:c.959G>A, NM_005032.7:c.959G>T, NM_005032.6:c.959G>A, NM_005032.6:c.959G>T, NM_005032.5:c.959G>A, NM_005032.5:c.959G>T, NM_001136025.5:c.959G>A, NM_001136025.5:c.959G>T, NM_001136025.4:c.959G>A, NM_001136025.4:c.959G>T, NM_001136025.3:c.959G>A, NM_001136025.3:c.959G>T, NM_001172335.3:c.878G>A, NM_001172335.3:c.878G>T, NM_001172335.2:c.878G>A, NM_001172335.2:c.878G>T, NM_001172335.1:c.878G>A, NM_001172335.1:c.878G>T, NM_001282338.2:c.824G>A, NM_001282338.2:c.824G>T, NM_001282338.1:c.824G>A, NM_001282338.1:c.824G>T, NM_001282337.2:c.920G>A, NM_001282337.2:c.920G>T, NM_001282337.1:c.920G>A, NM_001282337.1:c.920G>T, NC_000023.10:g.114874787G>A, NC_000023.10:g.114874787G>T, XM_047442172.1:c.959G>A, XM_047442172.1:c.959G>T, XM_047442171.1:c.959G>A, XM_047442171.1:c.959G>T, XM_047442169.1:c.959G>A, XM_047442169.1:c.959G>T, XM_047442168.1:c.959G>A, XM_047442168.1:c.959G>T, XM_047442170.1:c.959G>A, XM_047442170.1:c.959G>T, XM_047442167.1:c.959G>A, XM_047442167.1:c.959G>T, NP_005023.2:p.Arg320Gln, NP_005023.2:p.Arg320Leu, NP_001129497.1:p.Arg320Gln, NP_001129497.1:p.Arg320Leu, NP_001165806.1:p.Arg293Gln, NP_001165806.1:p.Arg293Leu, NP_001269267.1:p.Arg275Gln, NP_001269267.1:p.Arg275Leu, NP_001269266.1:p.Arg307Gln, NP_001269266.1:p.Arg307Leu, XP_047298128.1:p.Arg320Gln, XP_047298128.1:p.Arg320Leu, XP_047298127.1:p.Arg320Gln, XP_047298127.1:p.Arg320Leu, XP_047298125.1:p.Arg320Gln, XP_047298125.1:p.Arg320Leu, XP_047298124.1:p.Arg320Gln, XP_047298124.1:p.Arg320Leu, XP_047298126.1:p.Arg320Gln, XP_047298126.1:p.Arg320Leu, XP_047298123.1:p.Arg320Gln, XP_047298123.1:p.Arg320Leu

Select item 14846212022.

rs1484621202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115635016 (GRCh38)
X:114869328 (GRCh37)
Canonical SPDI:: NC_000023.11:115635015:T:C
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.115635016T>C, NW_004070891.1:g.1303818T>C, NG_012518.2:g.79138T>C, NM_005032.7:c.718T>C, NM_005032.6:c.718T>C, NM_005032.5:c.718T>C, NM_001136025.5:c.718T>C, NM_001136025.4:c.718T>C, NM_001136025.3:c.718T>C, NM_001172335.3:c.637T>C, NM_001172335.2:c.637T>C, NM_001172335.1:c.637T>C, NM_001282338.2:c.583T>C, NM_001282338.1:c.583T>C, NM_001282337.2:c.652T>C, NM_001282337.1:c.652T>C, NC_000023.10:g.114869328T>C, XM_047442172.1:c.718T>C, XM_047442171.1:c.718T>C, XM_047442169.1:c.718T>C, XM_047442168.1:c.718T>C, XM_047442170.1:c.718T>C, XM_047442167.1:c.718T>C, NP_005023.2:p.Phe240Leu, NP_001129497.1:p.Phe240Leu, NP_001165806.1:p.Phe213Leu, NP_001269267.1:p.Phe195Leu, NP_001269266.1:p.Phe218Leu, XP_047298128.1:p.Phe240Leu, XP_047298127.1:p.Phe240Leu, XP_047298125.1:p.Phe240Leu, XP_047298124.1:p.Phe240Leu, XP_047298126.1:p.Phe240Leu, XP_047298123.1:p.Phe240Leu

Select item 14845496803.

rs1484549680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115634009 (GRCh38)
X:114868321 (GRCh37)
Canonical SPDI:: NC_000023.11:115634008:T:C
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.115634009T>C, NW_004070891.1:g.1302811T>C, NG_012518.2:g.78131T>C, NM_005032.7:c.510T>C, NM_005032.6:c.510T>C, NM_005032.5:c.510T>C, NM_001136025.5:c.510T>C, NM_001136025.4:c.510T>C, NM_001136025.3:c.510T>C, NM_001172335.3:c.429T>C, NM_001172335.2:c.429T>C, NM_001172335.1:c.429T>C, NM_001282338.2:c.375T>C, NM_001282338.1:c.375T>C, NM_001282337.2:c.444T>C, NM_001282337.1:c.444T>C, NC_000023.10:g.114868321T>C, XM_047442172.1:c.510T>C, XM_047442171.1:c.510T>C, XM_047442169.1:c.510T>C, XM_047442168.1:c.510T>C, XM_047442170.1:c.510T>C, XM_047442167.1:c.510T>C

Select item 14831213634.

rs1483121363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:115646113 (GRCh38)
X:114880433 (GRCh37)
Canonical SPDI:: NC_000023.11:115646112:G:A
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.115646113G>A, NW_004070891.1:g.1314915G>A, NG_012518.2:g.90235G>A, NM_005032.7:c.1304G>A, NM_005032.6:c.1304G>A, NM_005032.5:c.1304G>A, NM_001136025.5:c.1304G>A, NM_001136025.4:c.1304G>A, NM_001136025.3:c.1304G>A, NM_001172335.3:c.1223G>A, NM_001172335.2:c.1223G>A, NM_001172335.1:c.1223G>A, NM_001282338.2:c.1169G>A, NM_001282338.1:c.1169G>A, NM_001282337.2:c.1265G>A, NM_001282337.1:c.1265G>A, NC_000023.10:g.114880433G>A, XM_047442172.1:c.1304G>A, XM_047442171.1:c.1304G>A, XM_047442169.1:c.1304G>A, XM_047442168.1:c.1304G>A, XM_047442170.1:c.1304G>A, XM_047442167.1:c.1304G>A, NP_005023.2:p.Arg435Gln, NP_001129497.1:p.Arg435Gln, NP_001165806.1:p.Arg408Gln, NP_001269267.1:p.Arg390Gln, NP_001269266.1:p.Arg422Gln, XP_047298128.1:p.Arg435Gln, XP_047298127.1:p.Arg435Gln, XP_047298125.1:p.Arg435Gln, XP_047298124.1:p.Arg435Gln, XP_047298126.1:p.Arg435Gln, XP_047298123.1:p.Arg435Gln

Select item 14823890595.

rs1482389059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:115643504 (GRCh38)
X:114877816 (GRCh37)
Canonical SPDI:: NC_000023.11:115643503:A:G,NC_000023.11:115643503:A:T
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.115643504A>G, NC_000023.11:g.115643504A>T, NW_004070891.1:g.1312306A>G, NW_004070891.1:g.1312306A>T, NG_012518.2:g.87626A>G, NG_012518.2:g.87626A>T, NM_005032.7:c.1179A>G, NM_005032.7:c.1179A>T, NM_005032.6:c.1179A>G, NM_005032.6:c.1179A>T, NM_005032.5:c.1179A>G, NM_005032.5:c.1179A>T, NM_001136025.5:c.1179A>G, NM_001136025.5:c.1179A>T, NM_001136025.4:c.1179A>G, NM_001136025.4:c.1179A>T, NM_001136025.3:c.1179A>G, NM_001136025.3:c.1179A>T, NM_001172335.3:c.1098A>G, NM_001172335.3:c.1098A>T, NM_001172335.2:c.1098A>G, NM_001172335.2:c.1098A>T, NM_001172335.1:c.1098A>G, NM_001172335.1:c.1098A>T, NM_001282338.2:c.1044A>G, NM_001282338.2:c.1044A>T, NM_001282338.1:c.1044A>G, NM_001282338.1:c.1044A>T, NM_001282337.2:c.1140A>G, NM_001282337.2:c.1140A>T, NM_001282337.1:c.1140A>G, NM_001282337.1:c.1140A>T, NC_000023.10:g.114877816A>G, NC_000023.10:g.114877816A>T, XM_047442172.1:c.1179A>G, XM_047442172.1:c.1179A>T, XM_047442171.1:c.1179A>G, XM_047442171.1:c.1179A>T, XM_047442169.1:c.1179A>G, XM_047442169.1:c.1179A>T, XM_047442168.1:c.1179A>G, XM_047442168.1:c.1179A>T, XM_047442170.1:c.1179A>G, XM_047442170.1:c.1179A>T, XM_047442167.1:c.1179A>G, XM_047442167.1:c.1179A>T, NP_005023.2:p.Leu393Phe, NP_001129497.1:p.Leu393Phe, NP_001165806.1:p.Leu366Phe, NP_001269267.1:p.Leu348Phe, NP_001269266.1:p.Leu380Phe, XP_047298128.1:p.Leu393Phe, XP_047298127.1:p.Leu393Phe, XP_047298125.1:p.Leu393Phe, XP_047298124.1:p.Leu393Phe, XP_047298126.1:p.Leu393Phe, XP_047298123.1:p.Leu393Phe

Select item 14757863226.

rs1475786322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:115646074 (GRCh38)
X:114880394 (GRCh37)
Canonical SPDI:: NC_000023.11:115646073:A:G
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.115646074A>G, NW_004070891.1:g.1314876A>G, NG_012518.2:g.90196A>G, NM_005032.7:c.1265A>G, NM_005032.6:c.1265A>G, NM_005032.5:c.1265A>G, NM_001136025.5:c.1265A>G, NM_001136025.4:c.1265A>G, NM_001136025.3:c.1265A>G, NM_001172335.3:c.1184A>G, NM_001172335.2:c.1184A>G, NM_001172335.1:c.1184A>G, NM_001282338.2:c.1130A>G, NM_001282338.1:c.1130A>G, NM_001282337.2:c.1226A>G, NM_001282337.1:c.1226A>G, NC_000023.10:g.114880394A>G, XM_047442172.1:c.1265A>G, XM_047442171.1:c.1265A>G, XM_047442169.1:c.1265A>G, XM_047442168.1:c.1265A>G, XM_047442170.1:c.1265A>G, XM_047442167.1:c.1265A>G, NP_005023.2:p.Asp422Gly, NP_001129497.1:p.Asp422Gly, NP_001165806.1:p.Asp395Gly, NP_001269267.1:p.Asp377Gly, NP_001269266.1:p.Asp409Gly, XP_047298128.1:p.Asp422Gly, XP_047298127.1:p.Asp422Gly, XP_047298125.1:p.Asp422Gly, XP_047298124.1:p.Asp422Gly, XP_047298126.1:p.Asp422Gly, XP_047298123.1:p.Asp422Gly

Select item 14692592237.

rs1469259223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:115649501 (GRCh38)
X:114883821 (GRCh37)
Canonical SPDI:: NC_000023.11:115649500:G:A
Gene:: PLS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.115649501G>A, NW_004070891.1:g.1318303G>A, NG_012518.2:g.93623G>A, NM_005032.7:c.1833G>A, NM_005032.6:c.1833G>A, NM_005032.5:c.1833G>A, NM_001136025.5:c.1833G>A, NM_001136025.4:c.1833G>A, NM_001136025.3:c.1833G>A, NM_001172335.3:c.1752G>A, NM_001172335.2:c.1752G>A, NM_001172335.1:c.1752G>A, NM_001282338.2:c.1698G>A, NM_001282338.1:c.1698G>A, NM_001282337.2:c.1794G>A, NM_001282337.1:c.1794G>A, NC_000023.10:g.114883821G>A, XM_047442172.1:c.1833G>A, XM_047442171.1:c.1833G>A, XM_047442169.1:c.1833G>A, XM_047442168.1:c.1833G>A, XM_047442170.1:c.1833G>A, XM_047442167.1:c.1833G>A

Select item 14577981928.

rs1457798192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:115629945 (GRCh38)
X:114864257 (GRCh37)
Canonical SPDI:: NC_000023.11:115629944:G:A
Gene:: PLS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00013/3 (ALFA)
A=0.000013/2 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.115629945G>A, NW_004070891.1:g.1298747G>A, NG_012518.2:g.74067G>A, NM_005032.7:c.478G>A, NM_005032.6:c.478G>A, NM_005032.5:c.478G>A, NM_001136025.5:c.478G>A, NM_001136025.4:c.478G>A, NM_001136025.3:c.478G>A, NM_001172335.3:c.397G>A, NM_001172335.2:c.397G>A, NM_001172335.1:c.397G>A, NM_001282338.2:c.343G>A, NM_001282338.1:c.343G>A, NM_001282337.2:c.412G>A, NM_001282337.1:c.412G>A, NC_000023.10:g.114864257G>A, XM_047442172.1:c.478G>A, XM_047442171.1:c.478G>A, XM_047442169.1:c.478G>A, XM_047442168.1:c.478G>A, XM_047442170.1:c.478G>A, XM_047442167.1:c.478G>A, NP_005023.2:p.Val160Ile, NP_001129497.1:p.Val160Ile, NP_001165806.1:p.Val133Ile, NP_001269267.1:p.Val115Ile, NP_001269266.1:p.Val138Ile, XP_047298128.1:p.Val160Ile, XP_047298127.1:p.Val160Ile, XP_047298125.1:p.Val160Ile, XP_047298124.1:p.Val160Ile, XP_047298126.1:p.Val160Ile, XP_047298123.1:p.Val160Ile

Select item 14503670919.

rs1450367091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:115645080 (GRCh38)
X:114879400 (GRCh37)
Canonical SPDI:: NC_000023.11:115645079:C:A
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.115645080C>A, NW_004070891.1:g.1313882C>A, NG_012518.2:g.89202C>A, NM_005032.7:c.1243C>A, NM_005032.6:c.1243C>A, NM_005032.5:c.1243C>A, NM_001136025.5:c.1243C>A, NM_001136025.4:c.1243C>A, NM_001136025.3:c.1243C>A, NM_001172335.3:c.1162C>A, NM_001172335.2:c.1162C>A, NM_001172335.1:c.1162C>A, NM_001282338.2:c.1108C>A, NM_001282338.1:c.1108C>A, NM_001282337.2:c.1204C>A, NM_001282337.1:c.1204C>A, NC_000023.10:g.114879400C>A, XM_047442172.1:c.1243C>A, XM_047442171.1:c.1243C>A, XM_047442169.1:c.1243C>A, XM_047442168.1:c.1243C>A, XM_047442170.1:c.1243C>A, XM_047442167.1:c.1243C>A, NP_005023.2:p.His415Asn, NP_001129497.1:p.His415Asn, NP_001165806.1:p.His388Asn, NP_001269267.1:p.His370Asn, NP_001269266.1:p.His402Asn, XP_047298128.1:p.His415Asn, XP_047298127.1:p.His415Asn, XP_047298125.1:p.His415Asn, XP_047298124.1:p.His415Asn, XP_047298126.1:p.His415Asn, XP_047298123.1:p.His415Asn

Select item 143463069710.

rs1434630697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115636881 (GRCh38)
X:114871193 (GRCh37)
Canonical SPDI:: NC_000023.11:115636880:T:C
Gene:: PLS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000029/3 (GnomAD)
C=0.000042/11 (TOPMED)
C=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.115636881T>C, NW_004070891.1:g.1305683T>C, NG_012518.2:g.81003T>C, NM_005032.7:c.794T>C, NM_005032.6:c.794T>C, NM_005032.5:c.794T>C, NM_001136025.5:c.794T>C, NM_001136025.4:c.794T>C, NM_001136025.3:c.794T>C, NM_001172335.3:c.713T>C, NM_001172335.2:c.713T>C, NM_001172335.1:c.713T>C, NM_001282338.2:c.659T>C, NM_001282338.1:c.659T>C, NM_001282337.2:c.728T>C, NM_001282337.1:c.728T>C, NC_000023.10:g.114871193T>C, XM_047442172.1:c.794T>C, XM_047442171.1:c.794T>C, XM_047442169.1:c.794T>C, XM_047442168.1:c.794T>C, XM_047442170.1:c.794T>C, XM_047442167.1:c.794T>C, NP_005023.2:p.Met265Thr, NP_001129497.1:p.Met265Thr, NP_001165806.1:p.Met238Thr, NP_001269267.1:p.Met220Thr, NP_001269266.1:p.Met243Thr, XP_047298128.1:p.Met265Thr, XP_047298127.1:p.Met265Thr, XP_047298125.1:p.Met265Thr, XP_047298124.1:p.Met265Thr, XP_047298126.1:p.Met265Thr, XP_047298123.1:p.Met265Thr

Select item 143177050611.

rs1431770506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:115640473 (GRCh38)
X:114874785 (GRCh37)
Canonical SPDI:: NC_000023.11:115640472:A:G
Gene:: PLS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.115640473A>G, NW_004070891.1:g.1309275A>G, NG_012518.2:g.84595A>G, NM_005032.7:c.957A>G, NM_005032.6:c.957A>G, NM_005032.5:c.957A>G, NM_001136025.5:c.957A>G, NM_001136025.4:c.957A>G, NM_001136025.3:c.957A>G, NM_001172335.3:c.876A>G, NM_001172335.2:c.876A>G, NM_001172335.1:c.876A>G, NM_001282338.2:c.822A>G, NM_001282338.1:c.822A>G, NM_001282337.2:c.918A>G, NM_001282337.1:c.918A>G, NC_000023.10:g.114874785A>G, XM_047442172.1:c.957A>G, XM_047442171.1:c.957A>G, XM_047442169.1:c.957A>G, XM_047442168.1:c.957A>G, XM_047442170.1:c.957A>G, XM_047442167.1:c.957A>G

Select item 143160976612.

rs1431609766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:115643374 (GRCh38)
X:114877686 (GRCh37)
Canonical SPDI:: NC_000023.11:115643373:G:A,NC_000023.11:115643373:G:T
Gene:: PLS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.115643374G>A, NC_000023.11:g.115643374G>T, NW_004070891.1:g.1312176G>A, NW_004070891.1:g.1312176G>T, NG_012518.2:g.87496G>A, NG_012518.2:g.87496G>T, NM_005032.7:c.1049G>A, NM_005032.7:c.1049G>T, NM_005032.6:c.1049G>A, NM_005032.6:c.1049G>T, NM_005032.5:c.1049G>A, NM_005032.5:c.1049G>T, NM_001136025.5:c.1049G>A, NM_001136025.5:c.1049G>T, NM_001136025.4:c.1049G>A, NM_001136025.4:c.1049G>T, NM_001136025.3:c.1049G>A, NM_001136025.3:c.1049G>T, NM_001172335.3:c.968G>A, NM_001172335.3:c.968G>T, NM_001172335.2:c.968G>A, NM_001172335.2:c.968G>T, NM_001172335.1:c.968G>A, NM_001172335.1:c.968G>T, NM_001282338.2:c.914G>A, NM_001282338.2:c.914G>T, NM_001282338.1:c.914G>A, NM_001282338.1:c.914G>T, NM_001282337.2:c.1010G>A, NM_001282337.2:c.1010G>T, NM_001282337.1:c.1010G>A, NM_001282337.1:c.1010G>T, NC_000023.10:g.114877686G>A, NC_000023.10:g.114877686G>T, XM_047442172.1:c.1049G>A, XM_047442172.1:c.1049G>T, XM_047442171.1:c.1049G>A, XM_047442171.1:c.1049G>T, XM_047442169.1:c.1049G>A, XM_047442169.1:c.1049G>T, XM_047442168.1:c.1049G>A, XM_047442168.1:c.1049G>T, XM_047442170.1:c.1049G>A, XM_047442170.1:c.1049G>T, XM_047442167.1:c.1049G>A, XM_047442167.1:c.1049G>T, NP_005023.2:p.Arg350Lys, NP_005023.2:p.Arg350Ile, NP_001129497.1:p.Arg350Lys, NP_001129497.1:p.Arg350Ile, NP_001165806.1:p.Arg323Lys, NP_001165806.1:p.Arg323Ile, NP_001269267.1:p.Arg305Lys, NP_001269267.1:p.Arg305Ile, NP_001269266.1:p.Arg337Lys, NP_001269266.1:p.Arg337Ile, XP_047298128.1:p.Arg350Lys, XP_047298128.1:p.Arg350Ile, XP_047298127.1:p.Arg350Lys, XP_047298127.1:p.Arg350Ile, XP_047298125.1:p.Arg350Lys, XP_047298125.1:p.Arg350Ile, XP_047298124.1:p.Arg350Lys, XP_047298124.1:p.Arg350Ile, XP_047298126.1:p.Arg350Lys, XP_047298126.1:p.Arg350Ile, XP_047298123.1:p.Arg350Lys, XP_047298123.1:p.Arg350Ile

Select item 142548995613.

rs1425489956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:115629906 (GRCh38)
X:114864218 (GRCh37)
Canonical SPDI:: NC_000023.11:115629905:A:G
Gene:: PLS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.115629906A>G, NW_004070891.1:g.1298708A>G, NG_012518.2:g.74028A>G, NM_005032.7:c.439A>G, NM_005032.6:c.439A>G, NM_005032.5:c.439A>G, NM_001136025.5:c.439A>G, NM_001136025.4:c.439A>G, NM_001136025.3:c.439A>G, NM_001172335.3:c.358A>G, NM_001172335.2:c.358A>G, NM_001172335.1:c.358A>G, NM_001282338.2:c.304A>G, NM_001282338.1:c.304A>G, NM_001282337.2:c.373A>G, NM_001282337.1:c.373A>G, NC_000023.10:g.114864218A>G, XM_047442172.1:c.439A>G, XM_047442171.1:c.439A>G, XM_047442169.1:c.439A>G, XM_047442168.1:c.439A>G, XM_047442170.1:c.439A>G, XM_047442167.1:c.439A>G, NP_005023.2:p.Ile147Val, NP_001129497.1:p.Ile147Val, NP_001165806.1:p.Ile120Val, NP_001269267.1:p.Ile102Val, NP_001269266.1:p.Ile125Val, XP_047298128.1:p.Ile147Val, XP_047298127.1:p.Ile147Val, XP_047298125.1:p.Ile147Val, XP_047298124.1:p.Ile147Val, XP_047298126.1:p.Ile147Val, XP_047298123.1:p.Ile147Val

Select item 142399048614.

rs1423990486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:115649507 (GRCh38)
X:114883827 (GRCh37)
Canonical SPDI:: NC_000023.11:115649506:G:C
Gene:: PLS3 (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_000023.11:g.115649507G>C, NW_004070891.1:g.1318309G>C, NG_012518.2:g.93629G>C, NM_005032.7:c.1839G>C, NM_005032.6:c.1839G>C, NM_005032.5:c.1839G>C, NM_001136025.5:c.1839G>C, NM_001136025.4:c.1839G>C, NM_001136025.3:c.1839G>C, NM_001172335.3:c.1758G>C, NM_001172335.2:c.1758G>C, NM_001172335.1:c.1758G>C, NM_001282338.2:c.1704G>C, NM_001282338.1:c.1704G>C, NM_001282337.2:c.1800G>C, NM_001282337.1:c.1800G>C, NC_000023.10:g.114883827G>C, XM_047442172.1:c.1839G>C, XM_047442171.1:c.1839G>C, XM_047442169.1:c.1839G>C, XM_047442168.1:c.1839G>C, XM_047442170.1:c.1839G>C, XM_047442167.1:c.1839G>C, NP_005023.2:p.Lys613Asn, NP_001129497.1:p.Lys613Asn, NP_001165806.1:p.Lys586Asn, NP_001269267.1:p.Lys568Asn, NP_001269266.1:p.Lys600Asn, XP_047298128.1:p.Lys613Asn, XP_047298127.1:p.Lys613Asn, XP_047298125.1:p.Lys613Asn, XP_047298124.1:p.Lys613Asn, XP_047298126.1:p.Lys613Asn, XP_047298123.1:p.Lys613Asn

Select item 141760227415.

rs1417602274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:115634962 (GRCh38)
X:114869274 (GRCh37)
Canonical SPDI:: NC_000023.11:115634961:G:A
Gene:: PLS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.115634962G>A, NW_004070891.1:g.1303764G>A, NG_012518.2:g.79084G>A, NM_005032.7:c.664G>A, NM_005032.6:c.664G>A, NM_005032.5:c.664G>A, NM_001136025.5:c.664G>A, NM_001136025.4:c.664G>A, NM_001136025.3:c.664G>A, NM_001172335.3:c.583G>A, NM_001172335.2:c.583G>A, NM_001172335.1:c.583G>A, NM_001282338.2:c.529G>A, NM_001282338.1:c.529G>A, NM_001282337.2:c.598G>A, NM_001282337.1:c.598G>A, NC_000023.10:g.114869274G>A, XM_047442172.1:c.664G>A, XM_047442171.1:c.664G>A, XM_047442169.1:c.664G>A, XM_047442168.1:c.664G>A, XM_047442170.1:c.664G>A, XM_047442167.1:c.664G>A, NP_005023.2:p.Gly222Arg, NP_001129497.1:p.Gly222Arg, NP_001165806.1:p.Gly195Arg, NP_001269267.1:p.Gly177Arg, NP_001269266.1:p.Gly200Arg, XP_047298128.1:p.Gly222Arg, XP_047298127.1:p.Gly222Arg, XP_047298125.1:p.Gly222Arg, XP_047298124.1:p.Gly222Arg, XP_047298126.1:p.Gly222Arg, XP_047298123.1:p.Gly222Arg

Select item 140922176116.

rs1409221761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:115647570 (GRCh38)
X:114881890 (GRCh37)
Canonical SPDI:: NC_000023.11:115647569:A:T
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.115647570A>T, NW_004070891.1:g.1316372A>T, NG_012518.2:g.91692A>T, NM_005032.7:c.1532A>T, NM_005032.6:c.1532A>T, NM_005032.5:c.1532A>T, NM_001136025.5:c.1532A>T, NM_001136025.4:c.1532A>T, NM_001136025.3:c.1532A>T, NM_001172335.3:c.1451A>T, NM_001172335.2:c.1451A>T, NM_001172335.1:c.1451A>T, NM_001282338.2:c.1397A>T, NM_001282338.1:c.1397A>T, NM_001282337.2:c.1493A>T, NM_001282337.1:c.1493A>T, NC_000023.10:g.114881890A>T, XM_047442172.1:c.1532A>T, XM_047442171.1:c.1532A>T, XM_047442169.1:c.1532A>T, XM_047442168.1:c.1532A>T, XM_047442170.1:c.1532A>T, XM_047442167.1:c.1532A>T, NP_005023.2:p.Glu511Val, NP_001129497.1:p.Glu511Val, NP_001165806.1:p.Glu484Val, NP_001269267.1:p.Glu466Val, NP_001269266.1:p.Glu498Val, XP_047298128.1:p.Glu511Val, XP_047298127.1:p.Glu511Val, XP_047298125.1:p.Glu511Val, XP_047298124.1:p.Glu511Val, XP_047298126.1:p.Glu511Val, XP_047298123.1:p.Glu511Val

Select item 140554763317.

rs1405547633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:115643416 (GRCh38)
X:114877728 (GRCh37)
Canonical SPDI:: NC_000023.11:115643415:A:G
Gene:: PLS3 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.115643416A>G, NW_004070891.1:g.1312218A>G, NG_012518.2:g.87538A>G, NM_005032.7:c.1091A>G, NM_005032.6:c.1091A>G, NM_005032.5:c.1091A>G, NM_001136025.5:c.1091A>G, NM_001136025.4:c.1091A>G, NM_001136025.3:c.1091A>G, NM_001172335.3:c.1010A>G, NM_001172335.2:c.1010A>G, NM_001172335.1:c.1010A>G, NM_001282338.2:c.956A>G, NM_001282338.1:c.956A>G, NM_001282337.2:c.1052A>G, NM_001282337.1:c.1052A>G, NC_000023.10:g.114877728A>G, XM_047442172.1:c.1091A>G, XM_047442171.1:c.1091A>G, XM_047442169.1:c.1091A>G, XM_047442168.1:c.1091A>G, XM_047442170.1:c.1091A>G, XM_047442167.1:c.1091A>G, NP_005023.2:p.Lys364Arg, NP_001129497.1:p.Lys364Arg, NP_001165806.1:p.Lys337Arg, NP_001269267.1:p.Lys319Arg, NP_001269266.1:p.Lys351Arg, XP_047298128.1:p.Lys364Arg, XP_047298127.1:p.Lys364Arg, XP_047298125.1:p.Lys364Arg, XP_047298124.1:p.Lys364Arg, XP_047298126.1:p.Lys364Arg, XP_047298123.1:p.Lys364Arg

Select item 139854265018.

rs1398542650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115647979 (GRCh38)
X:114882299 (GRCh37)
Canonical SPDI:: NC_000023.11:115647978:T:C
Gene:: PLS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.115647979T>C, NW_004070891.1:g.1316781T>C, NG_012518.2:g.92101T>C, NM_005032.7:c.1722T>C, NM_005032.6:c.1722T>C, NM_005032.5:c.1722T>C, NM_001136025.5:c.1722T>C, NM_001136025.4:c.1722T>C, NM_001136025.3:c.1722T>C, NM_001172335.3:c.1641T>C, NM_001172335.2:c.1641T>C, NM_001172335.1:c.1641T>C, NM_001282338.2:c.1587T>C, NM_001282338.1:c.1587T>C, NM_001282337.2:c.1683T>C, NM_001282337.1:c.1683T>C, NC_000023.10:g.114882299T>C, XM_047442172.1:c.1722T>C, XM_047442171.1:c.1722T>C, XM_047442169.1:c.1722T>C, XM_047442168.1:c.1722T>C, XM_047442170.1:c.1722T>C, XM_047442167.1:c.1722T>C

Select item 139372091119.

rs1393720911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:115645071 (GRCh38)
X:114879391 (GRCh37)
Canonical SPDI:: NC_000023.11:115645070:G:A
Gene:: PLS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.115645071G>A, NW_004070891.1:g.1313873G>A, NG_012518.2:g.89193G>A, NM_005032.7:c.1234G>A, NM_005032.6:c.1234G>A, NM_005032.5:c.1234G>A, NM_001136025.5:c.1234G>A, NM_001136025.4:c.1234G>A, NM_001136025.3:c.1234G>A, NM_001172335.3:c.1153G>A, NM_001172335.2:c.1153G>A, NM_001172335.1:c.1153G>A, NM_001282338.2:c.1099G>A, NM_001282338.1:c.1099G>A, NM_001282337.2:c.1195G>A, NM_001282337.1:c.1195G>A, NC_000023.10:g.114879391G>A, XM_047442172.1:c.1234G>A, XM_047442171.1:c.1234G>A, XM_047442169.1:c.1234G>A, XM_047442168.1:c.1234G>A, XM_047442170.1:c.1234G>A, XM_047442167.1:c.1234G>A, NP_005023.2:p.Val412Ile, NP_001129497.1:p.Val412Ile, NP_001165806.1:p.Val385Ile, NP_001269267.1:p.Val367Ile, NP_001269266.1:p.Val399Ile, XP_047298128.1:p.Val412Ile, XP_047298127.1:p.Val412Ile, XP_047298125.1:p.Val412Ile, XP_047298124.1:p.Val412Ile, XP_047298126.1:p.Val412Ile, XP_047298123.1:p.Val412Ile

Select item 137494500420.

rs1374945004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115634913 (GRCh38)
X:114869225 (GRCh37)
Canonical SPDI:: NC_000023.11:115634912:T:C
Gene:: PLS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.115634913T>C, NW_004070891.1:g.1303715T>C, NG_012518.2:g.79035T>C, NM_005032.7:c.615T>C, NM_005032.6:c.615T>C, NM_005032.5:c.615T>C, NM_001136025.5:c.615T>C, NM_001136025.4:c.615T>C, NM_001136025.3:c.615T>C, NM_001172335.3:c.534T>C, NM_001172335.2:c.534T>C, NM_001172335.1:c.534T>C, NM_001282338.2:c.480T>C, NM_001282338.1:c.480T>C, NM_001282337.2:c.549T>C, NM_001282337.1:c.549T>C, NC_000023.10:g.114869225T>C, XM_047442172.1:c.615T>C, XM_047442171.1:c.615T>C, XM_047442169.1:c.615T>C, XM_047442168.1:c.615T>C, XM_047442170.1:c.615T>C, XM_047442167.1:c.615T>C

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