SNP Links for Protein (Select 578838323) - SNP

Select item 14901400331.

rs1490140033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:105888400 (GRCh38)
X:105132393 (GRCh37)
Canonical SPDI:: NC_000023.11:105888399:G:C
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.105888400G>C, NC_000023.10:g.105132393G>C, NG_021425.2:g.70858G>C, NM_198465.4:c.359G>C, NM_198465.3:c.359G>C, NM_198465.2:c.359G>C, XM_006724634.5:c.359G>C, XM_006724634.4:c.359G>C, XM_006724634.3:c.359G>C, XM_006724634.2:c.359G>C, XM_006724634.1:c.359G>C, XM_006724632.4:c.359G>C, XM_006724632.3:c.359G>C, XM_006724632.2:c.359G>C, XM_006724632.1:c.359G>C, XM_011530887.4:c.194G>C, XM_011530887.3:c.194G>C, XM_011530887.2:c.194G>C, XM_011530887.1:c.194G>C, XM_006724633.4:c.359G>C, XM_006724633.3:c.359G>C, XM_006724633.2:c.359G>C, XM_006724633.1:c.359G>C, NP_940867.2:p.Gly120Ala, XP_006724697.1:p.Gly120Ala, XP_006724695.1:p.Gly120Ala, XP_011529189.1:p.Gly65Ala, XP_006724696.1:p.Gly120Ala

Select item 14900075632.

rs1490007563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:105908289 (GRCh38)
X:105152281 (GRCh37)
Canonical SPDI:: NC_000023.11:105908288:C:A,NC_000023.11:105908288:C:T
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000685/2 (KOREAN)
HGVS:: NC_000023.11:g.105908289C>A, NC_000023.11:g.105908289C>T, NC_000023.10:g.105152281C>A, NC_000023.10:g.105152281C>T, NG_021425.2:g.90747C>A, NG_021425.2:g.90747C>T, NM_198465.4:c.1071C>A, NM_198465.4:c.1071C>T, NM_198465.3:c.1071C>A, NM_198465.3:c.1071C>T, NM_198465.2:c.1071C>A, NM_198465.2:c.1071C>T, XM_006724634.5:c.1071C>A, XM_006724634.5:c.1071C>T, XM_006724634.4:c.1071C>A, XM_006724634.4:c.1071C>T, XM_006724634.3:c.1071C>A, XM_006724634.3:c.1071C>T, XM_006724634.2:c.1071C>A, XM_006724634.2:c.1071C>T, XM_006724634.1:c.1071C>A, XM_006724634.1:c.1071C>T, XM_006724632.4:c.1071C>A, XM_006724632.4:c.1071C>T, XM_006724632.3:c.1071C>A, XM_006724632.3:c.1071C>T, XM_006724632.2:c.1071C>A, XM_006724632.2:c.1071C>T, XM_006724632.1:c.1071C>A, XM_006724632.1:c.1071C>T, XM_011530887.4:c.906C>A, XM_011530887.4:c.906C>T, XM_011530887.3:c.906C>A, XM_011530887.3:c.906C>T, XM_011530887.2:c.906C>A, XM_011530887.2:c.906C>T, XM_011530887.1:c.906C>A, XM_011530887.1:c.906C>T, XM_006724633.4:c.1071C>A, XM_006724633.4:c.1071C>T, XM_006724633.3:c.1071C>A, XM_006724633.3:c.1071C>T, XM_006724633.2:c.1071C>A, XM_006724633.2:c.1071C>T, XM_006724633.1:c.1071C>A, XM_006724633.1:c.1071C>T

Select item 14899767533.

rs1489976753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:105895442 (GRCh38)
X:105139435 (GRCh37)
Canonical SPDI:: NC_000023.11:105895441:C:T
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.105895442C>T, NC_000023.10:g.105139435C>T, NG_021425.2:g.77900C>T, NM_198465.4:c.499C>T, NM_198465.3:c.499C>T, NM_198465.2:c.499C>T, XM_006724634.5:c.499C>T, XM_006724634.4:c.499C>T, XM_006724634.3:c.499C>T, XM_006724634.2:c.499C>T, XM_006724634.1:c.499C>T, XM_006724632.4:c.499C>T, XM_006724632.3:c.499C>T, XM_006724632.2:c.499C>T, XM_006724632.1:c.499C>T, XM_011530887.4:c.334C>T, XM_011530887.3:c.334C>T, XM_011530887.2:c.334C>T, XM_011530887.1:c.334C>T, XM_006724633.4:c.499C>T, XM_006724633.3:c.499C>T, XM_006724633.2:c.499C>T, XM_006724633.1:c.499C>T, NP_940867.2:p.His167Tyr, XP_006724697.1:p.His167Tyr, XP_006724695.1:p.His167Tyr, XP_011529189.1:p.His112Tyr, XP_006724696.1:p.His167Tyr

Select item 14899103234.

rs1489910323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:105924864 (GRCh38)
X:105168856 (GRCh37)
Canonical SPDI:: NC_000023.11:105924863:A:C
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.105924864A>C, NC_000023.10:g.105168856A>C, NG_021425.2:g.107322A>C, NM_198465.4:c.3145A>C, NM_198465.3:c.3145A>C, NM_198465.2:c.3145A>C, XM_006724634.5:c.3145A>C, XM_006724634.4:c.3145A>C, XM_006724634.3:c.3145A>C, XM_006724634.2:c.3145A>C, XM_006724634.1:c.3145A>C, XM_006724632.4:c.3145A>C, XM_006724632.3:c.3145A>C, XM_006724632.2:c.3145A>C, XM_006724632.1:c.3145A>C, XM_011530887.4:c.2980A>C, XM_011530887.3:c.2980A>C, XM_011530887.2:c.2980A>C, XM_011530887.1:c.2980A>C, XM_006724633.4:c.3145A>C, XM_006724633.3:c.3145A>C, XM_006724633.2:c.3145A>C, XM_006724633.1:c.3145A>C, NP_940867.2:p.Asn1049His, XP_006724697.1:p.Asn1049His, XP_006724695.1:p.Asn1049His, XP_011529189.1:p.Asn994His, XP_006724696.1:p.Asn1049His

Select item 14897468175.

rs1489746817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:105895452 (GRCh38)
X:105139445 (GRCh37)
Canonical SPDI:: NC_000023.11:105895451:C:T
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.105895452C>T, NC_000023.10:g.105139445C>T, NG_021425.2:g.77910C>T, NM_198465.4:c.509C>T, NM_198465.3:c.509C>T, NM_198465.2:c.509C>T, XM_006724634.5:c.509C>T, XM_006724634.4:c.509C>T, XM_006724634.3:c.509C>T, XM_006724634.2:c.509C>T, XM_006724634.1:c.509C>T, XM_006724632.4:c.509C>T, XM_006724632.3:c.509C>T, XM_006724632.2:c.509C>T, XM_006724632.1:c.509C>T, XM_011530887.4:c.344C>T, XM_011530887.3:c.344C>T, XM_011530887.2:c.344C>T, XM_011530887.1:c.344C>T, XM_006724633.4:c.509C>T, XM_006724633.3:c.509C>T, XM_006724633.2:c.509C>T, XM_006724633.1:c.509C>T, NP_940867.2:p.Ala170Val, XP_006724697.1:p.Ala170Val, XP_006724695.1:p.Ala170Val, XP_011529189.1:p.Ala115Val, XP_006724696.1:p.Ala170Val

Select item 14896780946.

rs1489678094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:105888307 (GRCh38)
X:105132300 (GRCh37)
Canonical SPDI:: NC_000023.11:105888306:A:T
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.105888307A>T, NC_000023.10:g.105132300A>T, NG_021425.2:g.70765A>T, NM_198465.4:c.266A>T, NM_198465.3:c.266A>T, NM_198465.2:c.266A>T, XM_006724634.5:c.266A>T, XM_006724634.4:c.266A>T, XM_006724634.3:c.266A>T, XM_006724634.2:c.266A>T, XM_006724634.1:c.266A>T, XM_006724632.4:c.266A>T, XM_006724632.3:c.266A>T, XM_006724632.2:c.266A>T, XM_006724632.1:c.266A>T, XM_011530887.4:c.101A>T, XM_011530887.3:c.101A>T, XM_011530887.2:c.101A>T, XM_011530887.1:c.101A>T, XM_006724633.4:c.266A>T, XM_006724633.3:c.266A>T, XM_006724633.2:c.266A>T, XM_006724633.1:c.266A>T, NP_940867.2:p.Asp89Val, XP_006724697.1:p.Asp89Val, XP_006724695.1:p.Asp89Val, XP_011529189.1:p.Asp34Val, XP_006724696.1:p.Asp89Val

Select item 14895084697.

rs1489508469 [Homo sapiens]

Variant type:: DEL
Alleles:: GAA>- [Show Flanks]
Chromosome:: X:105912660 (GRCh38)
X:105156652 (GRCh37)
Canonical SPDI:: NC_000023.11:105912659:GAA:
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.105912660_105912662del, NC_000023.10:g.105156652_105156654del, NG_021425.2:g.95118_95120del, NM_198465.4:c.2254_2256del, NM_198465.3:c.2254_2256del, NM_198465.2:c.2254_2256del, XM_006724634.5:c.2254_2256del, XM_006724634.4:c.2254_2256del, XM_006724634.3:c.2254_2256del, XM_006724634.2:c.2254_2256del, XM_006724634.1:c.2254_2256del, XM_006724632.4:c.2254_2256del, XM_006724632.3:c.2254_2256del, XM_006724632.2:c.2254_2256del, XM_006724632.1:c.2254_2256del, XM_011530887.4:c.2089_2091del, XM_011530887.3:c.2089_2091del, XM_011530887.2:c.2089_2091del, XM_011530887.1:c.2089_2091del, XM_006724633.4:c.2254_2256del, XM_006724633.3:c.2254_2256del, XM_006724633.2:c.2254_2256del, XM_006724633.1:c.2254_2256del, NP_940867.2:p.Glu752del, XP_006724697.1:p.Glu752del, XP_006724695.1:p.Glu752del, XP_011529189.1:p.Glu697del, XP_006724696.1:p.Glu752del

Select item 14890813828.

rs1489081382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:105934288 (GRCh38)
X:105178280 (GRCh37)
Canonical SPDI:: NC_000023.11:105934287:G:A
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.105934288G>A, NC_000023.10:g.105178280G>A, NG_021425.2:g.116746G>A, NM_198465.4:c.3343G>A, NM_198465.3:c.3343G>A, NM_198465.2:c.3343G>A, XM_006724634.5:c.3343G>A, XM_006724634.4:c.3343G>A, XM_006724634.3:c.3343G>A, XM_006724634.2:c.3343G>A, XM_006724634.1:c.3343G>A, XM_006724632.4:c.3343G>A, XM_006724632.3:c.3343G>A, XM_006724632.2:c.3343G>A, XM_006724632.1:c.3343G>A, XM_011530887.4:c.3178G>A, XM_011530887.3:c.3178G>A, XM_011530887.2:c.3178G>A, XM_011530887.1:c.3178G>A, XM_006724633.4:c.3343G>A, XM_006724633.3:c.3343G>A, XM_006724633.2:c.3343G>A, XM_006724633.1:c.3343G>A, NP_940867.2:p.Ala1115Thr, XP_006724697.1:p.Ala1115Thr, XP_006724695.1:p.Ala1115Thr, XP_011529189.1:p.Ala1060Thr, XP_006724696.1:p.Ala1115Thr

Select item 14887822459.

rs1488782245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:105945992 (GRCh38)
X:105189984 (GRCh37)
Canonical SPDI:: NC_000023.11:105945991:C:T
Gene:: NRK (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000096/2 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.105945992C>T, NC_000023.10:g.105189984C>T, NG_021425.2:g.128450C>T, NM_198465.4:c.4180C>T, NM_198465.3:c.4180C>T, NM_198465.2:c.4180C>T, XM_006724632.4:c.4180C>T, XM_006724632.3:c.4180C>T, XM_006724632.2:c.4180C>T, XM_006724632.1:c.4180C>T, XM_011530887.4:c.4015C>T, XM_011530887.3:c.4015C>T, XM_011530887.2:c.4015C>T, XM_011530887.1:c.4015C>T, NP_940867.2:p.Leu1394Phe, XP_006724695.1:p.Leu1394Phe, XP_011529189.1:p.Leu1339Phe

Select item 148780936310.

rs1487809363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:105935181 (GRCh38)
X:105179173 (GRCh37)
Canonical SPDI:: NC_000023.11:105935180:T:C
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.105935181T>C, NC_000023.10:g.105179173T>C, NG_021425.2:g.117639T>C, NM_198465.4:c.3511T>C, NM_198465.3:c.3511T>C, NM_198465.2:c.3511T>C, XM_006724634.5:c.3511T>C, XM_006724634.4:c.3511T>C, XM_006724634.3:c.3511T>C, XM_006724634.2:c.3511T>C, XM_006724634.1:c.3511T>C, XM_006724632.4:c.3511T>C, XM_006724632.3:c.3511T>C, XM_006724632.2:c.3511T>C, XM_006724632.1:c.3511T>C, XM_011530887.4:c.3346T>C, XM_011530887.3:c.3346T>C, XM_011530887.2:c.3346T>C, XM_011530887.1:c.3346T>C, XM_006724633.4:c.3511T>C, XM_006724633.3:c.3511T>C, XM_006724633.2:c.3511T>C, XM_006724633.1:c.3511T>C, NP_940867.2:p.Phe1171Leu, XP_006724697.1:p.Phe1171Leu, XP_006724695.1:p.Phe1171Leu, XP_011529189.1:p.Phe1116Leu, XP_006724696.1:p.Phe1171Leu

Select item 148766647011.

rs1487666470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:105946002 (GRCh38)
X:105189994 (GRCh37)
Canonical SPDI:: NC_000023.11:105946001:T:C
Gene:: NRK (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.105946002T>C, NC_000023.10:g.105189994T>C, NG_021425.2:g.128460T>C, NM_198465.4:c.4190T>C, NM_198465.3:c.4190T>C, NM_198465.2:c.4190T>C, XM_006724632.4:c.4190T>C, XM_006724632.3:c.4190T>C, XM_006724632.2:c.4190T>C, XM_006724632.1:c.4190T>C, XM_011530887.4:c.4025T>C, XM_011530887.3:c.4025T>C, XM_011530887.2:c.4025T>C, XM_011530887.1:c.4025T>C, NP_940867.2:p.Leu1397Ser, XP_006724695.1:p.Leu1397Ser, XP_011529189.1:p.Leu1342Ser

Select item 148753394412.

rs1487533944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:105923150 (GRCh38)
X:105167142 (GRCh37)
Canonical SPDI:: NC_000023.11:105923149:A:G
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.105923150A>G, NC_000023.10:g.105167142A>G, NG_021425.2:g.105608A>G, NM_198465.4:c.2643A>G, NM_198465.3:c.2643A>G, NM_198465.2:c.2643A>G, XM_006724634.5:c.2643A>G, XM_006724634.4:c.2643A>G, XM_006724634.3:c.2643A>G, XM_006724634.2:c.2643A>G, XM_006724634.1:c.2643A>G, XM_006724632.4:c.2643A>G, XM_006724632.3:c.2643A>G, XM_006724632.2:c.2643A>G, XM_006724632.1:c.2643A>G, XM_011530887.4:c.2478A>G, XM_011530887.3:c.2478A>G, XM_011530887.2:c.2478A>G, XM_011530887.1:c.2478A>G, XM_006724633.4:c.2643A>G, XM_006724633.3:c.2643A>G, XM_006724633.2:c.2643A>G, XM_006724633.1:c.2643A>G

Select item 148734717313.

rs1487347173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:105949612 (GRCh38)
X:105193604 (GRCh37)
Canonical SPDI:: NC_000023.11:105949611:T:C
Gene:: NRK (Varview), LOC105373304 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.105949612T>C, NC_000023.10:g.105193604T>C, NG_021425.2:g.132070T>C, NM_198465.4:c.4391T>C, NM_198465.3:c.4391T>C, NM_198465.2:c.4391T>C, XM_006724634.5:c.4223T>C, XM_006724634.4:c.4223T>C, XM_006724634.3:c.4223T>C, XM_006724634.2:c.4223T>C, XM_006724634.1:c.4223T>C, XM_006724632.4:c.4367T>C, XM_006724632.3:c.4367T>C, XM_006724632.2:c.4367T>C, XM_006724632.1:c.4367T>C, XM_011530887.4:c.4226T>C, XM_011530887.3:c.4226T>C, XM_011530887.2:c.4226T>C, XM_011530887.1:c.4226T>C, XM_006724633.4:c.4247T>C, XM_006724633.3:c.4247T>C, XM_006724633.2:c.4247T>C, XM_006724633.1:c.4247T>C, XR_938495.3:n.421A>G, NP_940867.2:p.Leu1464Ser, XP_006724697.1:p.Leu1408Ser, XP_006724695.1:p.Leu1456Ser, XP_011529189.1:p.Leu1409Ser, XP_006724696.1:p.Leu1416Ser

Select item 148661429214.

rs1486614292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:105912707 (GRCh38)
X:105156699 (GRCh37)
Canonical SPDI:: NC_000023.11:105912706:C:T
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.105912707C>T, NC_000023.10:g.105156699C>T, NG_021425.2:g.95165C>T, NM_198465.4:c.2301C>T, NM_198465.3:c.2301C>T, NM_198465.2:c.2301C>T, XM_006724634.5:c.2301C>T, XM_006724634.4:c.2301C>T, XM_006724634.3:c.2301C>T, XM_006724634.2:c.2301C>T, XM_006724634.1:c.2301C>T, XM_006724632.4:c.2301C>T, XM_006724632.3:c.2301C>T, XM_006724632.2:c.2301C>T, XM_006724632.1:c.2301C>T, XM_011530887.4:c.2136C>T, XM_011530887.3:c.2136C>T, XM_011530887.2:c.2136C>T, XM_011530887.1:c.2136C>T, XM_006724633.4:c.2301C>T, XM_006724633.3:c.2301C>T, XM_006724633.2:c.2301C>T, XM_006724633.1:c.2301C>T

Select item 148505157715.

rs1485051577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:105909623 (GRCh38)
X:105153615 (GRCh37)
Canonical SPDI:: NC_000023.11:105909622:C:T
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.105909623C>T, NC_000023.10:g.105153615C>T, NG_021425.2:g.92081C>T, NM_198465.4:c.1982C>T, NM_198465.3:c.1982C>T, NM_198465.2:c.1982C>T, XM_006724634.5:c.1982C>T, XM_006724634.4:c.1982C>T, XM_006724634.3:c.1982C>T, XM_006724634.2:c.1982C>T, XM_006724634.1:c.1982C>T, XM_006724632.4:c.1982C>T, XM_006724632.3:c.1982C>T, XM_006724632.2:c.1982C>T, XM_006724632.1:c.1982C>T, XM_011530887.4:c.1817C>T, XM_011530887.3:c.1817C>T, XM_011530887.2:c.1817C>T, XM_011530887.1:c.1817C>T, XM_006724633.4:c.1982C>T, XM_006724633.3:c.1982C>T, XM_006724633.2:c.1982C>T, XM_006724633.1:c.1982C>T, NP_940867.2:p.Pro661Leu, XP_006724697.1:p.Pro661Leu, XP_006724695.1:p.Pro661Leu, XP_011529189.1:p.Pro606Leu, XP_006724696.1:p.Pro661Leu

Select item 148466752816.

rs1484667528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:105923406 (GRCh38)
X:105167398 (GRCh37)
Canonical SPDI:: NC_000023.11:105923405:A:G
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000018/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.105923406A>G, NC_000023.10:g.105167398A>G, NG_021425.2:g.105864A>G, NM_198465.4:c.2899A>G, NM_198465.3:c.2899A>G, NM_198465.2:c.2899A>G, XM_006724634.5:c.2899A>G, XM_006724634.4:c.2899A>G, XM_006724634.3:c.2899A>G, XM_006724634.2:c.2899A>G, XM_006724634.1:c.2899A>G, XM_006724632.4:c.2899A>G, XM_006724632.3:c.2899A>G, XM_006724632.2:c.2899A>G, XM_006724632.1:c.2899A>G, XM_011530887.4:c.2734A>G, XM_011530887.3:c.2734A>G, XM_011530887.2:c.2734A>G, XM_011530887.1:c.2734A>G, XM_006724633.4:c.2899A>G, XM_006724633.3:c.2899A>G, XM_006724633.2:c.2899A>G, XM_006724633.1:c.2899A>G, NP_940867.2:p.Lys967Glu, XP_006724697.1:p.Lys967Glu, XP_006724695.1:p.Lys967Glu, XP_011529189.1:p.Lys912Glu, XP_006724696.1:p.Lys967Glu

Select item 148425120317.

rs1484251203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:105935236 (GRCh38)
X:105179228 (GRCh37)
Canonical SPDI:: NC_000023.11:105935235:C:T
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.105935236C>T, NC_000023.10:g.105179228C>T, NG_021425.2:g.117694C>T, NM_198465.4:c.3566C>T, NM_198465.3:c.3566C>T, NM_198465.2:c.3566C>T, XM_006724634.5:c.3566C>T, XM_006724634.4:c.3566C>T, XM_006724634.3:c.3566C>T, XM_006724634.2:c.3566C>T, XM_006724634.1:c.3566C>T, XM_006724632.4:c.3566C>T, XM_006724632.3:c.3566C>T, XM_006724632.2:c.3566C>T, XM_006724632.1:c.3566C>T, XM_011530887.4:c.3401C>T, XM_011530887.3:c.3401C>T, XM_011530887.2:c.3401C>T, XM_011530887.1:c.3401C>T, XM_006724633.4:c.3566C>T, XM_006724633.3:c.3566C>T, XM_006724633.2:c.3566C>T, XM_006724633.1:c.3566C>T, NP_940867.2:p.Pro1189Leu, XP_006724697.1:p.Pro1189Leu, XP_006724695.1:p.Pro1189Leu, XP_011529189.1:p.Pro1134Leu, XP_006724696.1:p.Pro1189Leu

Select item 148323844318.

rs1483238443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:105900668 (GRCh38)
X:105144661 (GRCh37)
Canonical SPDI:: NC_000023.11:105900667:C:T
Gene:: NRK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.105900668C>T, NC_000023.10:g.105144661C>T, NG_021425.2:g.83126C>T, NM_198465.4:c.762C>T, NM_198465.3:c.762C>T, NM_198465.2:c.762C>T, XM_006724634.5:c.762C>T, XM_006724634.4:c.762C>T, XM_006724634.3:c.762C>T, XM_006724634.2:c.762C>T, XM_006724634.1:c.762C>T, XM_006724632.4:c.762C>T, XM_006724632.3:c.762C>T, XM_006724632.2:c.762C>T, XM_006724632.1:c.762C>T, XM_011530887.4:c.597C>T, XM_011530887.3:c.597C>T, XM_011530887.2:c.597C>T, XM_011530887.1:c.597C>T, XM_006724633.4:c.762C>T, XM_006724633.3:c.762C>T, XM_006724633.2:c.762C>T, XM_006724633.1:c.762C>T

Select item 148158536019.

rs1481585360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:105822883 (GRCh38)
X:105066876 (GRCh37)
Canonical SPDI:: NC_000023.11:105822882:C:G,NC_000023.11:105822882:C:T
Gene:: NRK (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.105822883C>G, NC_000023.11:g.105822883C>T, NC_000023.10:g.105066876C>G, NC_000023.10:g.105066876C>T, NG_021425.2:g.5341C>G, NG_021425.2:g.5341C>T, NM_198465.4:c.38C>G, NM_198465.4:c.38C>T, NM_198465.3:c.38C>G, NM_198465.3:c.38C>T, NM_198465.2:c.38C>G, NM_198465.2:c.38C>T, XM_006724634.5:c.38C>G, XM_006724634.5:c.38C>T, XM_006724634.4:c.38C>G, XM_006724634.4:c.38C>T, XM_006724634.3:c.38C>G, XM_006724634.3:c.38C>T, XM_006724634.2:c.38C>G, XM_006724634.2:c.38C>T, XM_006724634.1:c.38C>G, XM_006724634.1:c.38C>T, XM_006724632.4:c.38C>G, XM_006724632.4:c.38C>T, XM_006724632.3:c.38C>G, XM_006724632.3:c.38C>T, XM_006724632.2:c.38C>G, XM_006724632.2:c.38C>T, XM_006724632.1:c.38C>G, XM_006724632.1:c.38C>T, XM_006724633.4:c.38C>G, XM_006724633.4:c.38C>T, XM_006724633.3:c.38C>G, XM_006724633.3:c.38C>T, XM_006724633.2:c.38C>G, XM_006724633.2:c.38C>T, XM_006724633.1:c.38C>G, XM_006724633.1:c.38C>T, NP_940867.2:p.Thr13Arg, NP_940867.2:p.Thr13Met, XP_006724697.1:p.Thr13Arg, XP_006724697.1:p.Thr13Met, XP_006724695.1:p.Thr13Arg, XP_006724695.1:p.Thr13Met, XP_006724696.1:p.Thr13Arg, XP_006724696.1:p.Thr13Met

Select item 148115866120.

rs1481158661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:105953044 (GRCh38)
X:105197036 (GRCh37)
Canonical SPDI:: NC_000023.11:105953043:T:C
Gene:: NRK (Varview), LOC105373304 (Varview)
Functional Consequence:: 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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.105953044T>C, NC_000023.10:g.105197036T>C, NG_021425.2:g.135502T>C, NM_198465.4:c.4524T>C, NM_198465.3:c.4524T>C, NM_198465.2:c.4524T>C, XM_006724634.5:c.4356T>C, XM_006724634.4:c.4356T>C, XM_006724634.3:c.4356T>C, XM_006724634.2:c.4356T>C, XM_006724634.1:c.4356T>C, XM_006724632.4:c.4500T>C, XM_006724632.3:c.4500T>C, XM_006724632.2:c.4500T>C, XM_006724632.1:c.4500T>C, XM_011530887.4:c.4359T>C, XM_011530887.3:c.4359T>C, XM_011530887.2:c.4359T>C, XM_011530887.1:c.4359T>C, XM_006724633.4:c.4380T>C, XM_006724633.3:c.4380T>C, XM_006724633.2:c.4380T>C, XM_006724633.1:c.4380T>C

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 1114

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