SNP Links for Protein (Select 110227626) - SNP

Select item 14606226922.

rs1460622692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135985535 (GRCh38)
X:135067694 (GRCh37)
Canonical SPDI:: NC_000023.11:135985534:C:T
Gene:: SLC9A6 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.135985535C>T, NC_000023.10:g.135067694C>T, NG_017160.1:g.5109C>T, NM_006359.3:c.33C>T, NM_006359.2:c.33C>T, NM_001042537.2:c.33C>T, NM_001042537.1:c.33C>T, NW_004070887.1:g.916678C>T, XM_047441765.1:c.33C>T

Select item 14528690813.

rs1452869081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136022626 (GRCh38)
X:135104785 (GRCh37)
Canonical SPDI:: NC_000023.11:136022625:T:C
Gene:: SLC9A6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.136022626T>C, NC_000023.10:g.135104785T>C, NG_017160.1:g.42200T>C, NM_006359.3:c.1295T>C, NM_006359.2:c.1295T>C, NM_001042537.2:c.1391T>C, NM_001042537.1:c.1391T>C, NM_001177651.2:c.1235T>C, NM_001177651.1:c.1235T>C, NM_001330652.2:c.1139T>C, NM_001330652.1:c.1139T>C, NM_001379110.1:c.1235T>C, NW_004070887.1:g.953769T>C, NM_001400909.1:c.1235T>C, XM_047441765.1:c.1391T>C, NM_001400910.1:c.1235T>C, NM_001400911.1:c.1235T>C, NM_001400912.1:c.1235T>C, NM_001400913.1:c.1139T>C, NP_006350.1:p.Leu432Ser, NP_001036002.1:p.Leu464Ser, NP_001171122.1:p.Leu412Ser, NP_001317581.1:p.Leu380Ser, NP_001366039.1:p.Leu412Ser, NP_001387838.1:p.Leu412Ser, XP_047297721.1:p.Leu464Ser, NP_001387839.1:p.Leu412Ser, NP_001387840.1:p.Leu412Ser, NP_001387841.1:p.Leu412Ser, NP_001387842.1:p.Leu380Ser

Select item 14516375334.

rs1451637533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135994855 (GRCh38)
X:135077014 (GRCh37)
Canonical SPDI:: NC_000023.11:135994854:G:A
Gene:: SLC9A6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135994855G>A, NC_000023.10:g.135077014G>A, NG_017160.1:g.14429G>A, NM_006359.3:c.395G>A, NM_006359.2:c.395G>A, NM_001042537.2:c.395G>A, NM_001042537.1:c.395G>A, NM_001177651.2:c.239G>A, NM_001177651.1:c.239G>A, NM_001330652.2:c.239G>A, NM_001330652.1:c.239G>A, NM_001379110.1:c.239G>A, NW_004070887.1:g.925998G>A, NM_001400909.1:c.239G>A, XM_047441765.1:c.395G>A, NM_001400910.1:c.239G>A, NM_001400911.1:c.239G>A, NM_001400912.1:c.239G>A, NM_001400913.1:c.239G>A, NP_006350.1:p.Ser132Asn, NP_001036002.1:p.Ser132Asn, NP_001171122.1:p.Ser80Asn, NP_001317581.1:p.Ser80Asn, NP_001366039.1:p.Ser80Asn, NP_001387838.1:p.Ser80Asn, XP_047297721.1:p.Ser132Asn, NP_001387839.1:p.Ser80Asn, NP_001387840.1:p.Ser80Asn, NP_001387841.1:p.Ser80Asn, NP_001387842.1:p.Ser80Asn

Select item 14504645405.

rs1450464540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135985622 (GRCh38)
X:135067781 (GRCh37)
Canonical SPDI:: NC_000023.11:135985621:A:G
Gene:: SLC9A6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,splice_acceptor_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135985622A>G, NC_000023.10:g.135067781A>G, NG_017160.1:g.5196A>G, NM_006359.3:c.120A>G, NM_006359.2:c.120A>G, NM_001042537.2:c.120A>G, NM_001042537.1:c.120A>G, NM_001177651.2:c.-37A>G, NM_001177651.1:c.-37A>G, NM_001330652.2:c.-37A>G, NM_001330652.1:c.-37A>G, NM_001379110.1:c.-37A>G, NW_004070887.1:g.916765A>G, XM_047441765.1:c.120A>G, NM_001400910.1:c.-37A>G, NM_001400911.1:c.-37A>G, NM_001400912.1:c.-37A>G, NM_001400913.1:c.-37A>G

Select item 14488875746.

rs1448887574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:136002135 (GRCh38)
X:135084294 (GRCh37)
Canonical SPDI:: NC_000023.11:136002134:T:G
Gene:: SLC9A6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.136002135T>G, NC_000023.10:g.135084294T>G, NG_017160.1:g.21709T>G, NM_006359.3:c.725T>G, NM_006359.2:c.725T>G, NM_001042537.2:c.821T>G, NM_001042537.1:c.821T>G, NM_001177651.2:c.665T>G, NM_001177651.1:c.665T>G, NM_001330652.2:c.569T>G, NM_001330652.1:c.569T>G, NM_001379110.1:c.665T>G, NW_004070887.1:g.933278T>G, NM_001400909.1:c.665T>G, XM_047441765.1:c.821T>G, NM_001400910.1:c.665T>G, NM_001400911.1:c.665T>G, NM_001400912.1:c.665T>G, NM_001400913.1:c.569T>G, NP_006350.1:p.Leu242Arg, NP_001036002.1:p.Leu274Arg, NP_001171122.1:p.Leu222Arg, NP_001317581.1:p.Leu190Arg, NP_001366039.1:p.Leu222Arg, NP_001387838.1:p.Leu222Arg, XP_047297721.1:p.Leu274Arg, NP_001387839.1:p.Leu222Arg, NP_001387840.1:p.Leu222Arg, NP_001387841.1:p.Leu222Arg, NP_001387842.1:p.Leu190Arg

Select item 14434195867.

rs1443419586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:135985652 (GRCh38)
X:135067811 (GRCh37)
Canonical SPDI:: NC_000023.11:135985651:T:G
Gene:: SLC9A6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.135985652T>G, NC_000023.10:g.135067811T>G, NG_017160.1:g.5226T>G, NM_006359.3:c.150T>G, NM_006359.2:c.150T>G, NM_001042537.2:c.150T>G, NM_001042537.1:c.150T>G, NM_001177651.2:c.-7T>G, NM_001177651.1:c.-7T>G, NM_001330652.2:c.-7T>G, NM_001330652.1:c.-7T>G, NM_001379110.1:c.-7T>G, NW_004070887.1:g.916795T>G, NM_001400909.1:c.-7T>G, XM_047441765.1:c.150T>G, NM_001400910.1:c.-7T>G, NM_001400911.1:c.-7T>G, NM_001400912.1:c.-7T>G, NM_001400913.1:c.-7T>G

Select item 14357402308.

rs1435740230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136024477 (GRCh38)
X:135106636 (GRCh37)
Canonical SPDI:: NC_000023.11:136024476:A:G
Gene:: SLC9A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.136024477A>G, NC_000023.10:g.135106636A>G, NG_017160.1:g.44051A>G, NM_006359.3:c.1514A>G, NM_006359.2:c.1514A>G, NM_001042537.2:c.1610A>G, NM_001042537.1:c.1610A>G, NM_001177651.2:c.1454A>G, NM_001177651.1:c.1454A>G, NM_001330652.2:c.1358A>G, NM_001330652.1:c.1358A>G, NM_001379110.1:c.1454A>G, NW_004070887.1:g.955620A>G, NM_001400909.1:c.1454A>G, XM_047441765.1:c.1610A>G, NM_001400910.1:c.1454A>G, NM_001400911.1:c.1454A>G, NM_001400912.1:c.1454A>G, NM_001400913.1:c.1358A>G, NP_006350.1:p.His505Arg, NP_001036002.1:p.His537Arg, NP_001171122.1:p.His485Arg, NP_001317581.1:p.His453Arg, NP_001366039.1:p.His485Arg, NP_001387838.1:p.His485Arg, XP_047297721.1:p.His537Arg, NP_001387839.1:p.His485Arg, NP_001387840.1:p.His485Arg, NP_001387841.1:p.His485Arg, NP_001387842.1:p.His453Arg

Select item 14350722849.

rs1435072284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:136044624 (GRCh38)
X:135126783 (GRCh37)
Canonical SPDI:: NC_000023.11:136044623:A:C,NC_000023.11:136044623:A:G
Gene:: SLC9A6 (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)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136044624A>C, NC_000023.11:g.136044624A>G, NC_000023.10:g.135126783A>C, NC_000023.10:g.135126783A>G, NG_017160.1:g.64198A>C, NG_017160.1:g.64198A>G, NM_006359.3:c.1910A>C, NM_006359.3:c.1910A>G, NM_006359.2:c.1910A>C, NM_006359.2:c.1910A>G, NM_001042537.2:c.2006A>C, NM_001042537.2:c.2006A>G, NM_001042537.1:c.2006A>C, NM_001042537.1:c.2006A>G, NM_001177651.2:c.1850A>C, NM_001177651.2:c.1850A>G, NM_001177651.1:c.1850A>C, NM_001177651.1:c.1850A>G, NM_001330652.2:c.1754A>C, NM_001330652.2:c.1754A>G, NM_001330652.1:c.1754A>C, NM_001330652.1:c.1754A>G, NM_001379110.1:c.1940A>C, NM_001379110.1:c.1940A>G, NW_004070887.1:g.975767A>C, NW_004070887.1:g.975767A>G, NM_001400909.1:c.1850A>C, NM_001400909.1:c.1850A>G, XM_047441765.1:c.2096A>C, XM_047441765.1:c.2096A>G, NM_001400910.1:c.1850A>C, NM_001400910.1:c.1850A>G, NM_001400911.1:c.1850A>C, NM_001400911.1:c.1850A>G, NM_001400912.1:c.1850A>C, NM_001400912.1:c.1850A>G, NM_001400913.1:c.1754A>C, NM_001400913.1:c.1754A>G, NP_006350.1:p.Asp637Ala, NP_006350.1:p.Asp637Gly, NP_001036002.1:p.Asp669Ala, NP_001036002.1:p.Asp669Gly, NP_001171122.1:p.Asp617Ala, NP_001171122.1:p.Asp617Gly, NP_001317581.1:p.Asp585Ala, NP_001317581.1:p.Asp585Gly, NP_001366039.1:p.Asp647Ala, NP_001366039.1:p.Asp647Gly, NP_001387838.1:p.Asp617Ala, NP_001387838.1:p.Asp617Gly, XP_047297721.1:p.Asp699Ala, XP_047297721.1:p.Asp699Gly, NP_001387839.1:p.Asp617Ala, NP_001387839.1:p.Asp617Gly, NP_001387840.1:p.Asp617Ala, NP_001387840.1:p.Asp617Gly, NP_001387841.1:p.Asp617Ala, NP_001387841.1:p.Asp617Gly, NP_001387842.1:p.Asp585Ala, NP_001387842.1:p.Asp585Gly

Select item 143001315310.

rs1430013153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135998547 (GRCh38)
X:135080706 (GRCh37)
Canonical SPDI:: NC_000023.11:135998546:T:C
Gene:: SLC9A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135998547T>C, NC_000023.10:g.135080706T>C, NG_017160.1:g.18121T>C, NM_006359.3:c.573T>C, NM_006359.2:c.573T>C, NM_001042537.2:c.669T>C, NM_001042537.1:c.669T>C, NM_001177651.2:c.513T>C, NM_001177651.1:c.513T>C, NM_001330652.2:c.417T>C, NM_001330652.1:c.417T>C, NM_001379110.1:c.513T>C, NW_004070887.1:g.929690T>C, NM_001400909.1:c.513T>C, XM_047441765.1:c.669T>C, NM_001400910.1:c.513T>C, NM_001400911.1:c.513T>C, NM_001400912.1:c.513T>C, NM_001400913.1:c.417T>C

Select item 142827375511.

rs1428273755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136016660 (GRCh38)
X:135098819 (GRCh37)
Canonical SPDI:: NC_000023.11:136016659:A:G
Gene:: SLC9A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.136016660A>G, NC_000023.10:g.135098819A>G, NG_017160.1:g.36234A>G, NM_006359.3:c.1156A>G, NM_006359.2:c.1156A>G, NM_001042537.2:c.1252A>G, NM_001042537.1:c.1252A>G, NM_001177651.2:c.1096A>G, NM_001177651.1:c.1096A>G, NM_001330652.2:c.1000A>G, NM_001330652.1:c.1000A>G, NM_001379110.1:c.1096A>G, NW_004070887.1:g.947803A>G, NM_001400909.1:c.1096A>G, XM_047441765.1:c.1252A>G, NM_001400910.1:c.1096A>G, NM_001400911.1:c.1096A>G, NM_001400912.1:c.1096A>G, NM_001400913.1:c.1000A>G, NP_006350.1:p.Asn386Asp, NP_001036002.1:p.Asn418Asp, NP_001171122.1:p.Asn366Asp, NP_001317581.1:p.Asn334Asp, NP_001366039.1:p.Asn366Asp, NP_001387838.1:p.Asn366Asp, XP_047297721.1:p.Asn418Asp, NP_001387839.1:p.Asn366Asp, NP_001387840.1:p.Asn366Asp, NP_001387841.1:p.Asn366Asp, NP_001387842.1:p.Asn334Asp

Select item 142392590612.

rs1423925906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135985790 (GRCh38)
X:135067949 (GRCh37)
Canonical SPDI:: NC_000023.11:135985789:C:T
Gene:: SLC9A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135985790C>T, NC_000023.10:g.135067949C>T, NG_017160.1:g.5364C>T, NM_006359.3:c.288C>T, NM_006359.2:c.288C>T, NM_001042537.2:c.288C>T, NM_001042537.1:c.288C>T, NM_001177651.2:c.132C>T, NM_001177651.1:c.132C>T, NM_001330652.2:c.132C>T, NM_001330652.1:c.132C>T, NM_001379110.1:c.132C>T, NW_004070887.1:g.916933C>T, NM_001400909.1:c.132C>T, XM_047441765.1:c.288C>T, NM_001400910.1:c.132C>T, NM_001400911.1:c.132C>T, NM_001400912.1:c.132C>T, NM_001400913.1:c.132C>T

Select item 142301457013.

rs1423014570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135998550 (GRCh38)
X:135080709 (GRCh37)
Canonical SPDI:: NC_000023.11:135998549:C:T
Gene:: SLC9A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135998550C>T, NC_000023.10:g.135080709C>T, NG_017160.1:g.18124C>T, NM_006359.3:c.576C>T, NM_006359.2:c.576C>T, NM_001042537.2:c.672C>T, NM_001042537.1:c.672C>T, NM_001177651.2:c.516C>T, NM_001177651.1:c.516C>T, NM_001330652.2:c.420C>T, NM_001330652.1:c.420C>T, NM_001379110.1:c.516C>T, NW_004070887.1:g.929693C>T, NM_001400909.1:c.516C>T, XM_047441765.1:c.672C>T, NM_001400910.1:c.516C>T, NM_001400911.1:c.516C>T, NM_001400912.1:c.516C>T, NM_001400913.1:c.420C>T

Select item 141588948414.

rs1415889484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:135985514 (GRCh38)
X:135067673 (GRCh37)
Canonical SPDI:: NC_000023.11:135985513:C:G,NC_000023.11:135985513:C:T
Gene:: SLC9A6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
T=0.000016/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.135985514C>G, NC_000023.11:g.135985514C>T, NC_000023.10:g.135067673C>G, NC_000023.10:g.135067673C>T, NG_017160.1:g.5088C>G, NG_017160.1:g.5088C>T, NM_006359.3:c.12C>G, NM_006359.3:c.12C>T, NM_006359.2:c.12C>G, NM_006359.2:c.12C>T, NM_001042537.2:c.12C>G, NM_001042537.2:c.12C>T, NM_001042537.1:c.12C>G, NM_001042537.1:c.12C>T, NW_004070887.1:g.916657C>G, NW_004070887.1:g.916657C>T, XM_047441765.1:c.12C>G, XM_047441765.1:c.12C>T

Select item 141491724115.

rs1414917241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136013413 (GRCh38)
X:135095572 (GRCh37)
Canonical SPDI:: NC_000023.11:136013412:G:A
Gene:: SLC9A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136013413G>A, NC_000023.10:g.135095572G>A, NG_017160.1:g.32987G>A, NM_006359.3:c.1116G>A, NM_006359.2:c.1116G>A, NM_001042537.2:c.1212G>A, NM_001042537.1:c.1212G>A, NM_001177651.2:c.1056G>A, NM_001177651.1:c.1056G>A, NM_001330652.2:c.960G>A, NM_001330652.1:c.960G>A, NM_001379110.1:c.1056G>A, NW_004070887.1:g.944556G>A, NM_001400909.1:c.1056G>A, XM_047441765.1:c.1212G>A, NM_001400910.1:c.1056G>A, NM_001400911.1:c.1056G>A, NM_001400912.1:c.1056G>A, NM_001400913.1:c.960G>A

Select item 141116660516.

rs1411166605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135994927 (GRCh38)
X:135077086 (GRCh37)
Canonical SPDI:: NC_000023.11:135994926:A:G
Gene:: SLC9A6 (Varview)
Functional Consequence:: intron_variant,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.135994927A>G, NC_000023.10:g.135077086A>G, NG_017160.1:g.14501A>G, NM_001042537.2:c.467A>G, NM_001042537.1:c.467A>G, NM_001177651.2:c.311A>G, NM_001177651.1:c.311A>G, NM_001379110.1:c.311A>G, NW_004070887.1:g.926070A>G, NM_001400909.1:c.311A>G, XM_047441765.1:c.467A>G, NM_001400910.1:c.311A>G, NM_001400911.1:c.311A>G, NM_001400912.1:c.311A>G, NP_001036002.1:p.Lys156Arg, NP_001171122.1:p.Lys104Arg, NP_001366039.1:p.Lys104Arg, NP_001387838.1:p.Lys104Arg, XP_047297721.1:p.Lys156Arg, NP_001387839.1:p.Lys104Arg, NP_001387840.1:p.Lys104Arg, NP_001387841.1:p.Lys104Arg

Select item 140678165417.

rs1406781654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135994867 (GRCh38)
X:135077026 (GRCh37)
Canonical SPDI:: NC_000023.11:135994866:A:G
Gene:: SLC9A6 (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=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.135994867A>G, NC_000023.10:g.135077026A>G, NG_017160.1:g.14441A>G, NM_006359.3:c.407A>G, NM_006359.2:c.407A>G, NM_001042537.2:c.407A>G, NM_001042537.1:c.407A>G, NM_001177651.2:c.251A>G, NM_001177651.1:c.251A>G, NM_001330652.2:c.251A>G, NM_001330652.1:c.251A>G, NM_001379110.1:c.251A>G, NW_004070887.1:g.926010A>G, NM_001400909.1:c.251A>G, XM_047441765.1:c.407A>G, NM_001400910.1:c.251A>G, NM_001400911.1:c.251A>G, NM_001400912.1:c.251A>G, NM_001400913.1:c.251A>G, NP_006350.1:p.Gln136Arg, NP_001036002.1:p.Gln136Arg, NP_001171122.1:p.Gln84Arg, NP_001317581.1:p.Gln84Arg, NP_001366039.1:p.Gln84Arg, NP_001387838.1:p.Gln84Arg, XP_047297721.1:p.Gln136Arg, NP_001387839.1:p.Gln84Arg, NP_001387840.1:p.Gln84Arg, NP_001387841.1:p.Gln84Arg, NP_001387842.1:p.Gln84Arg

Select item 140555783718.

rs1405557837 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCGGC>- [Show Flanks]
Chromosome:: X:135985508 (GRCh38)
X:135067667 (GRCh37)
Canonical SPDI:: NC_000023.11:135985504:GGCTCGGC:GGC
Gene:: SLC9A6 (Varview)
Functional Consequence:: intron_variant,initiator_codon_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135985508_135985512del, NC_000023.10:g.135067667_135067671del, NG_017160.1:g.5082_5086del, NM_006359.3:c.6_10del, NM_006359.2:c.6_10del, NM_001042537.2:c.6_10del, NM_001042537.1:c.6_10del, NW_004070887.1:g.916651_916655del, XM_047441765.1:c.6_10del, NP_006350.1:p.Arg4fs, NP_001036002.1:p.Arg4fs, XP_047297721.1:p.Arg4fs

Select item 140202474419.

rs1402024744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135994891 (GRCh38)
X:135077050 (GRCh37)
Canonical SPDI:: NC_000023.11:135994890:T:C
Gene:: SLC9A6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,splice_donor_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135994891T>C, NC_000023.10:g.135077050T>C, NG_017160.1:g.14465T>C, NM_001042537.2:c.431T>C, NM_001042537.1:c.431T>C, NM_001177651.2:c.275T>C, NM_001177651.1:c.275T>C, NM_001379110.1:c.275T>C, NW_004070887.1:g.926034T>C, NM_001400909.1:c.275T>C, XM_047441765.1:c.431T>C, NM_001400910.1:c.275T>C, NM_001400911.1:c.275T>C, NM_001400912.1:c.275T>C, NP_001036002.1:p.Val144Ala, NP_001171122.1:p.Val92Ala, NP_001366039.1:p.Val92Ala, NP_001387838.1:p.Val92Ala, XP_047297721.1:p.Val144Ala, NP_001387839.1:p.Val92Ala, NP_001387840.1:p.Val92Ala, NP_001387841.1:p.Val92Ala

Select item 140162326920.

rs1401623269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:136044510 (GRCh38)
X:135126669 (GRCh37)
Canonical SPDI:: NC_000023.11:136044509:G:A,NC_000023.11:136044509:G:C
Gene:: SLC9A6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.136044510G>A, NC_000023.11:g.136044510G>C, NC_000023.10:g.135126669G>A, NC_000023.10:g.135126669G>C, NG_017160.1:g.64084G>A, NG_017160.1:g.64084G>C, NM_006359.3:c.1796G>A, NM_006359.3:c.1796G>C, NM_006359.2:c.1796G>A, NM_006359.2:c.1796G>C, NM_001042537.2:c.1892G>A, NM_001042537.2:c.1892G>C, NM_001042537.1:c.1892G>A, NM_001042537.1:c.1892G>C, NM_001177651.2:c.1736G>A, NM_001177651.2:c.1736G>C, NM_001177651.1:c.1736G>A, NM_001177651.1:c.1736G>C, NM_001330652.2:c.1640G>A, NM_001330652.2:c.1640G>C, NM_001330652.1:c.1640G>A, NM_001330652.1:c.1640G>C, NM_001379110.1:c.1826G>A, NM_001379110.1:c.1826G>C, NW_004070887.1:g.975653G>A, NW_004070887.1:g.975653G>C, NM_001400909.1:c.1736G>A, NM_001400909.1:c.1736G>C, XM_047441765.1:c.1982G>A, XM_047441765.1:c.1982G>C, NM_001400910.1:c.1736G>A, NM_001400910.1:c.1736G>C, NM_001400911.1:c.1736G>A, NM_001400911.1:c.1736G>C, NM_001400912.1:c.1736G>A, NM_001400912.1:c.1736G>C, NM_001400913.1:c.1640G>A, NM_001400913.1:c.1640G>C, NP_006350.1:p.Ser599Asn, NP_006350.1:p.Ser599Thr, NP_001036002.1:p.Ser631Asn, NP_001036002.1:p.Ser631Thr, NP_001171122.1:p.Ser579Asn, NP_001171122.1:p.Ser579Thr, NP_001317581.1:p.Ser547Asn, NP_001317581.1:p.Ser547Thr, NP_001366039.1:p.Ser609Asn, NP_001366039.1:p.Ser609Thr, NP_001387838.1:p.Ser579Asn, NP_001387838.1:p.Ser579Thr, XP_047297721.1:p.Ser661Asn, XP_047297721.1:p.Ser661Thr, NP_001387839.1:p.Ser579Asn, NP_001387839.1:p.Ser579Thr, NP_001387840.1:p.Ser579Asn, NP_001387840.1:p.Ser579Thr, NP_001387841.1:p.Ser579Asn, NP_001387841.1:p.Ser579Thr, NP_001387842.1:p.Ser547Asn, NP_001387842.1:p.Ser547Thr

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Result Filters

Clinical Significance

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Annotation

Global MAF

Custom range

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Items: 1 to 20 of 305

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