SNP Links for Protein (Select 1130413428) - SNP

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Links from Protein

Items: 1 to 20 of 33

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Select item 14567678751.

rs1456767875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56729393 (GRCh38)
X:56755826 (GRCh37)
Canonical SPDI:: NC_000023.11:56729392:C:T
Gene:: NBDY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.56729393C>T, NC_000023.10:g.56755826C>T, NM_001348129.2:c.40C>T, NM_001348129.1:c.40C>T, NR_015367.2:n.109C>T, NP_001335058.1:p.Pro14Ser

Select item 14496238172.

rs1449623817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:56729483 (GRCh38)
X:56755916 (GRCh37)
Canonical SPDI:: NC_000023.11:56729482:G:T
Gene:: NBDY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56729483G>T, NC_000023.10:g.56755916G>T, NM_001348129.2:c.130G>T, NM_001348129.1:c.130G>T, NR_015367.2:n.199G>T, NP_001335058.1:p.Gly44Cys

Select item 14344789363.

rs1434478936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:56729558 (GRCh38)
X:56755991 (GRCh37)
Canonical SPDI:: NC_000023.11:56729557:T:A
Gene:: NBDY (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.56729558T>A, NC_000023.10:g.56755991T>A, NM_001348129.2:c.205T>A, NM_001348129.1:c.205T>A, NR_015367.2:n.274T>A, NP_001335058.1:p.Ter69Lys

Select item 13863303644.

rs1386330364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:56729385 (GRCh38)
X:56755818 (GRCh37)
Canonical SPDI:: NC_000023.11:56729384:C:A,NC_000023.11:56729384:C:T
Gene:: NBDY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000023.11:g.56729385C>A, NC_000023.11:g.56729385C>T, NC_000023.10:g.56755818C>A, NC_000023.10:g.56755818C>T, NM_001348129.2:c.32C>A, NM_001348129.2:c.32C>T, NM_001348129.1:c.32C>A, NM_001348129.1:c.32C>T, NR_015367.2:n.101C>A, NR_015367.2:n.101C>T, NP_001335058.1:p.Ser11Tyr, NP_001335058.1:p.Ser11Phe

Select item 13848742365.

rs1384874236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:56729359 (GRCh38)
X:56755792 (GRCh37)
Canonical SPDI:: NC_000023.11:56729358:A:T
Gene:: NBDY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.56729359A>T, NC_000023.10:g.56755792A>T, NM_001348129.2:c.6A>T, NM_001348129.1:c.6A>T, NR_015367.2:n.75A>T

Select item 13665589336.

rs1366558933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:56729360 (GRCh38)
X:56755793 (GRCh37)
Canonical SPDI:: NC_000023.11:56729359:G:C
Gene:: NBDY (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.56729360G>C, NC_000023.10:g.56755793G>C, NM_001348129.2:c.7G>C, NM_001348129.1:c.7G>C, NR_015367.2:n.76G>C, NP_001335058.1:p.Asp3His

Select item 13630234007.

rs1363023400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56729542 (GRCh38)
X:56755975 (GRCh37)
Canonical SPDI:: NC_000023.11:56729541:T:C
Gene:: NBDY (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.56729542T>C, NC_000023.10:g.56755975T>C, NM_001348129.2:c.189T>C, NM_001348129.1:c.189T>C, NR_015367.2:n.258T>C

Select item 13197899578.

rs1319789957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56729551 (GRCh38)
X:56755984 (GRCh37)
Canonical SPDI:: NC_000023.11:56729550:G:A
Gene:: NBDY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.56729551G>A, NC_000023.10:g.56755984G>A, NM_001348129.2:c.198G>A, NM_001348129.1:c.198G>A, NR_015367.2:n.267G>A

Select item 13114123619.

rs1311412361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:56729505 (GRCh38)
X:56755938 (GRCh37)
Canonical SPDI:: NC_000023.11:56729504:C:A
Gene:: NBDY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000416/2 (1000Genomes)
HGVS:: NC_000023.11:g.56729505C>A, NC_000023.10:g.56755938C>A, NM_001348129.2:c.152C>A, NM_001348129.1:c.152C>A, NR_015367.2:n.221C>A, NP_001335058.1:p.Ala51Glu

Select item 131010624910.

rs1310106249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56729495 (GRCh38)
X:56755928 (GRCh37)
Canonical SPDI:: NC_000023.11:56729494:C:T
Gene:: NBDY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56729495C>T, NC_000023.10:g.56755928C>T, NM_001348129.2:c.142C>T, NM_001348129.1:c.142C>T, NR_015367.2:n.211C>T

Select item 129407376311.

rs1294073763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:56729369 (GRCh38)
X:56755802 (GRCh37)
Canonical SPDI:: NC_000023.11:56729368:T:G
Gene:: NBDY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56729369T>G, NC_000023.10:g.56755802T>G, NM_001348129.2:c.16T>G, NM_001348129.1:c.16T>G, NR_015367.2:n.85T>G, NP_001335058.1:p.Cys6Gly

Select item 128106515412.

rs1281065154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56729528 (GRCh38)
X:56755961 (GRCh37)
Canonical SPDI:: NC_000023.11:56729527:C:T
Gene:: NBDY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56729528C>T, NC_000023.10:g.56755961C>T, NM_001348129.2:c.175C>T, NM_001348129.1:c.175C>T, NR_015367.2:n.244C>T

Select item 126705518813.

rs1267055188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:56729421 (GRCh38)
X:56755854 (GRCh37)
Canonical SPDI:: NC_000023.11:56729420:C:G
Gene:: NBDY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.000686/2 (KOREAN)
HGVS:: NC_000023.11:g.56729421C>G, NC_000023.10:g.56755854C>G, NM_001348129.2:c.68C>G, NM_001348129.1:c.68C>G, NR_015367.2:n.137C>G, NP_001335058.1:p.Pro23Arg

Select item 126212608014.

rs1262126080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:56729485 (GRCh38)
X:56755918 (GRCh37)
Canonical SPDI:: NC_000023.11:56729484:T:A
Gene:: NBDY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.56729485T>A, NC_000023.10:g.56755918T>A, NM_001348129.2:c.132T>A, NM_001348129.1:c.132T>A, NR_015367.2:n.201T>A

Select item 124672437815.

rs1246724378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56729464 (GRCh38)
X:56755897 (GRCh37)
Canonical SPDI:: NC_000023.11:56729463:G:A
Gene:: NBDY (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56729464G>A, NC_000023.10:g.56755897G>A, NM_001348129.2:c.111G>A, NM_001348129.1:c.111G>A, NR_015367.2:n.180G>A

Select item 123825333916.

rs1238253339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:56729517 (GRCh38)
X:56755950 (GRCh37)
Canonical SPDI:: NC_000023.11:56729516:C:A
Gene:: NBDY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.56729517C>A, NC_000023.10:g.56755950C>A, NM_001348129.2:c.164C>A, NM_001348129.1:c.164C>A, NR_015367.2:n.233C>A, NP_001335058.1:p.Ala55Glu

Select item 123056035917.

rs1230560359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56729498 (GRCh38)
X:56755931 (GRCh37)
Canonical SPDI:: NC_000023.11:56729497:C:T
Gene:: NBDY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56729498C>T, NC_000023.10:g.56755931C>T, NM_001348129.2:c.145C>T, NM_001348129.1:c.145C>T, NR_015367.2:n.214C>T, NP_001335058.1:p.Pro49Ser

Select item 103423399718.

rs1034233997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:56729384 (GRCh38)
X:56755817 (GRCh37)
Canonical SPDI:: NC_000023.11:56729383:T:A
Gene:: NBDY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.56729384T>A, NC_000023.10:g.56755817T>A, NM_001348129.2:c.31T>A, NM_001348129.1:c.31T>A, NR_015367.2:n.100T>A, NP_001335058.1:p.Ser11Thr

Select item 102793427619.

rs1027934276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56729459 (GRCh38)
X:56755892 (GRCh37)
Canonical SPDI:: NC_000023.11:56729458:T:C
Gene:: NBDY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000057/15 (TOPMED)
C=0.000067/7 (GnomAD)
C=0.000343/1 (KOREAN)
C=0.00036/5 (TOMMO)
HGVS:: NC_000023.11:g.56729459T>C, NC_000023.10:g.56755892T>C, NM_001348129.2:c.106T>C, NM_001348129.1:c.106T>C, NR_015367.2:n.175T>C, NP_001335058.1:p.Tyr36His

Select item 102465944520.

rs1024659445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:56729388 (GRCh38)
X:56755821 (GRCh37)
Canonical SPDI:: NC_000023.11:56729387:C:G
Gene:: NBDY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.56729388C>G, NC_000023.10:g.56755821C>G, NM_001348129.2:c.35C>G, NM_001348129.1:c.35C>G, NR_015367.2:n.104C>G, NP_001335058.1:p.Thr12Ser