SNP Links for Protein (Select 1034673478) - SNP

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Links from Protein

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Select item 14900997151.

rs1490099715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:108559091 (GRCh38)
X:107802321 (GRCh37)
Canonical SPDI:: NC_000023.11:108559090:G:A
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.108559091G>A, NC_000023.10:g.107802321G>A, NG_011977.2:g.124168G>A, NM_000495.5:c.169G>A, NM_000495.4:c.169G>A, NM_033380.3:c.169G>A, NM_033380.2:c.169G>A, XM_011530849.3:c.184G>A, XM_011530849.2:c.184G>A, XM_011530849.1:c.-156G>A, XM_017029259.3:c.184G>A, XM_017029259.2:c.184G>A, XM_017029259.1:c.184G>A, XM_017029262.3:c.184G>A, XM_017029262.2:c.184G>A, XM_017029262.1:c.184G>A, XM_017029260.2:c.184G>A, XM_017029260.1:c.184G>A, XM_017029261.2:c.184G>A, XM_017029261.1:c.184G>A, XM_047441810.1:c.-156G>A, NM_033381.1:c.169G>A, XM_047441811.1:c.169G>A, NP_000486.1:p.Gly57Arg, NP_203699.1:p.Gly57Arg, XP_011529151.2:p.Gly62Arg, XP_016884748.1:p.Gly62Arg, XP_016884751.1:p.Gly62Arg, XP_016884749.1:p.Gly62Arg, XP_016884750.1:p.Gly62Arg, XP_047297767.1:p.Gly57Arg

Select item 14887317682.

rs1488731768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:108575917 (GRCh38)
X:107819147 (GRCh37)
Canonical SPDI:: NC_000023.11:108575916:C:G
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.108575917C>G, NC_000023.10:g.107819147C>G, NG_011977.2:g.140994C>G, NM_000495.5:c.554C>G, NM_000495.4:c.554C>G, NM_033380.3:c.554C>G, NM_033380.2:c.554C>G, XM_011530849.3:c.569C>G, XM_011530849.2:c.569C>G, XM_011530849.1:c.230C>G, XM_017029259.3:c.569C>G, XM_017029259.2:c.569C>G, XM_017029259.1:c.569C>G, XM_017029262.3:c.569C>G, XM_017029262.2:c.569C>G, XM_017029262.1:c.569C>G, XM_017029260.2:c.569C>G, XM_017029260.1:c.569C>G, XM_017029261.2:c.569C>G, XM_017029261.1:c.569C>G, XM_047441810.1:c.230C>G, NM_033381.1:c.554C>G, XM_047441811.1:c.554C>G, NP_000486.1:p.Pro185Arg, NP_203699.1:p.Pro185Arg, XP_011529151.2:p.Pro190Arg, XP_016884748.1:p.Pro190Arg, XP_016884751.1:p.Pro190Arg, XP_016884749.1:p.Pro190Arg, XP_016884750.1:p.Pro190Arg, XP_047297766.1:p.Pro77Arg, XP_047297767.1:p.Pro185Arg

Select item 14887102603.

rs1488710260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:108568768 (GRCh38)
X:107811998 (GRCh37)
Canonical SPDI:: NC_000023.11:108568767:G:A
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.108568768G>A, NC_000023.10:g.107811998G>A, NG_011977.2:g.133845G>A, NM_000495.5:c.331G>A, NM_000495.4:c.331G>A, NM_033380.3:c.331G>A, NM_033380.2:c.331G>A, XM_011530849.3:c.346G>A, XM_011530849.2:c.346G>A, XM_011530849.1:c.7G>A, XM_017029259.3:c.346G>A, XM_017029259.2:c.346G>A, XM_017029259.1:c.346G>A, XM_017029262.3:c.346G>A, XM_017029262.2:c.346G>A, XM_017029262.1:c.346G>A, XM_017029260.2:c.346G>A, XM_017029260.1:c.346G>A, XM_017029261.2:c.346G>A, XM_017029261.1:c.346G>A, XM_047441810.1:c.7G>A, NM_033381.1:c.331G>A, XM_047441811.1:c.331G>A, NP_000486.1:p.Gly111Ser, NP_203699.1:p.Gly111Ser, XP_011529151.2:p.Gly116Ser, XP_016884748.1:p.Gly116Ser, XP_016884751.1:p.Gly116Ser, XP_016884749.1:p.Gly116Ser, XP_016884750.1:p.Gly116Ser, XP_047297766.1:p.Gly3Ser, XP_047297767.1:p.Gly111Ser

Select item 14883387084.

rs1488338708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:108680698 (GRCh38)
X:107923928 (GRCh37)
Canonical SPDI:: NC_000023.11:108680697:G:T
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108680698G>T, NC_000023.10:g.107923928G>T, NG_011977.2:g.245775G>T, NM_000495.5:c.3944G>T, NM_000495.4:c.3944G>T, NM_033380.3:c.3962G>T, NM_033380.2:c.3962G>T, XM_011530849.3:c.3977G>T, XM_011530849.2:c.3977G>T, XM_011530849.1:c.3638G>T, XM_017029259.3:c.3968G>T, XM_017029259.2:c.3968G>T, XM_017029259.1:c.3968G>T, XM_017029260.2:c.3959G>T, XM_017029260.1:c.3959G>T, XM_047441810.1:c.3638G>T, NM_033381.1:c.3953G>T, NP_000486.1:p.Gly1315Val, NP_203699.1:p.Gly1321Val, XP_011529151.2:p.Gly1326Val, XP_016884748.1:p.Gly1323Val, XP_016884749.1:p.Gly1320Val, XP_047297766.1:p.Gly1213Val

Select item 14869344405.

rs1486934440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:108539805 (GRCh38)
X:107783035 (GRCh37)
Canonical SPDI:: NC_000023.11:108539804:G:A,NC_000023.11:108539804:G:T
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108539805G>A, NC_000023.11:g.108539805G>T, NC_000023.10:g.107783035G>A, NC_000023.10:g.107783035G>T, NG_011977.2:g.104882G>A, NG_011977.2:g.104882G>T, NM_000495.5:c.141G>A, NM_000495.5:c.141G>T, NM_000495.4:c.141G>A, NM_000495.4:c.141G>T, NM_033380.3:c.141G>A, NM_033380.3:c.141G>T, NM_033380.2:c.141G>A, NM_033380.2:c.141G>T, XM_011530849.3:c.156G>A, XM_011530849.3:c.156G>T, XM_011530849.2:c.156G>A, XM_011530849.2:c.156G>T, XM_011530849.1:c.-184G>A, XM_011530849.1:c.-184G>T, XM_017029259.3:c.156G>A, XM_017029259.3:c.156G>T, XM_017029259.2:c.156G>A, XM_017029259.2:c.156G>T, XM_017029259.1:c.156G>A, XM_017029259.1:c.156G>T, XM_017029262.3:c.156G>A, XM_017029262.3:c.156G>T, XM_017029262.2:c.156G>A, XM_017029262.2:c.156G>T, XM_017029262.1:c.156G>A, XM_017029262.1:c.156G>T, XM_017029260.2:c.156G>A, XM_017029260.2:c.156G>T, XM_017029260.1:c.156G>A, XM_017029260.1:c.156G>T, XM_017029261.2:c.156G>A, XM_017029261.2:c.156G>T, XM_017029261.1:c.156G>A, XM_017029261.1:c.156G>T, XM_047441810.1:c.-184G>A, XM_047441810.1:c.-184G>T, NM_033381.1:c.141G>A, NM_033381.1:c.141G>T, XM_047441811.1:c.141G>A, XM_047441811.1:c.141G>T, NP_000486.1:p.Lys47Asn, NP_203699.1:p.Lys47Asn, XP_011529151.2:p.Lys52Asn, XP_016884748.1:p.Lys52Asn, XP_016884751.1:p.Lys52Asn, XP_016884749.1:p.Lys52Asn, XP_016884750.1:p.Lys52Asn, XP_047297767.1:p.Lys47Asn

Select item 14867300026.

rs1486730002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:108695373 (GRCh38)
X:107938603 (GRCh37)
Canonical SPDI:: NC_000023.11:108695372:C:A,NC_000023.11:108695372:C:T
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.108695373C>A, NC_000023.11:g.108695373C>T, NC_000023.10:g.107938603C>A, NC_000023.10:g.107938603C>T, NG_011977.2:g.260450C>A, NG_011977.2:g.260450C>T, NM_000495.5:c.4910C>A, NM_000495.5:c.4910C>T, NM_000495.4:c.4910C>A, NM_000495.4:c.4910C>T, NM_033380.3:c.4928C>A, NM_033380.3:c.4928C>T, NM_033380.2:c.4928C>A, NM_033380.2:c.4928C>T, XM_011530849.3:c.4943C>A, XM_011530849.3:c.4943C>T, XM_011530849.2:c.4943C>A, XM_011530849.2:c.4943C>T, XM_011530849.1:c.4604C>A, XM_011530849.1:c.4604C>T, XM_017029259.3:c.4934C>A, XM_017029259.3:c.4934C>T, XM_017029259.2:c.4934C>A, XM_017029259.2:c.4934C>T, XM_017029259.1:c.4934C>A, XM_017029259.1:c.4934C>T, XM_017029260.2:c.4925C>A, XM_017029260.2:c.4925C>T, XM_017029260.1:c.4925C>A, XM_017029260.1:c.4925C>T, XM_047441810.1:c.4604C>A, XM_047441810.1:c.4604C>T, NM_033381.1:c.4919C>A, NM_033381.1:c.4919C>T, NP_000486.1:p.Thr1637Asn, NP_000486.1:p.Thr1637Ile, NP_203699.1:p.Thr1643Asn, NP_203699.1:p.Thr1643Ile, XP_011529151.2:p.Thr1648Asn, XP_011529151.2:p.Thr1648Ile, XP_016884748.1:p.Thr1645Asn, XP_016884748.1:p.Thr1645Ile, XP_016884749.1:p.Thr1642Asn, XP_016884749.1:p.Thr1642Ile, XP_047297766.1:p.Thr1535Asn, XP_047297766.1:p.Thr1535Ile

Select item 14851129237.

rs1485112923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:108606880 (GRCh38)
X:107850110 (GRCh37)
Canonical SPDI:: NC_000023.11:108606879:C:A
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.108606880C>A, NC_000023.10:g.107850110C>A, NG_011977.2:g.171957C>A, NM_000495.5:c.2383C>A, NM_000495.4:c.2383C>A, NM_033380.3:c.2383C>A, NM_033380.2:c.2383C>A, XM_011530849.3:c.2398C>A, XM_011530849.2:c.2398C>A, XM_011530849.1:c.2059C>A, XM_017029259.3:c.2398C>A, XM_017029259.2:c.2398C>A, XM_017029259.1:c.2398C>A, XM_017029262.3:c.2398C>A, XM_017029262.2:c.2398C>A, XM_017029262.1:c.2398C>A, XM_017029260.2:c.2398C>A, XM_017029260.1:c.2398C>A, XM_017029261.2:c.2398C>A, XM_017029261.1:c.2398C>A, XM_047441810.1:c.2059C>A, NM_033381.1:c.2383C>A, XM_047441811.1:c.2383C>A, NP_000486.1:p.Pro795Thr, NP_203699.1:p.Pro795Thr, XP_011529151.2:p.Pro800Thr, XP_016884748.1:p.Pro800Thr, XP_016884751.1:p.Pro800Thr, XP_016884749.1:p.Pro800Thr, XP_016884750.1:p.Pro800Thr, XP_047297766.1:p.Pro687Thr, XP_047297767.1:p.Pro795Thr

Select item 14849010238.

rs1484901023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:108586674 (GRCh38)
X:107829904 (GRCh37)
Canonical SPDI:: NC_000023.11:108586673:T:C
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.108586674T>C, NC_000023.10:g.107829904T>C, NG_011977.2:g.151751T>C, NM_000495.5:c.1092T>C, NM_000495.4:c.1092T>C, NM_033380.3:c.1092T>C, NM_033380.2:c.1092T>C, XM_011530849.3:c.1107T>C, XM_011530849.2:c.1107T>C, XM_011530849.1:c.768T>C, XM_017029259.3:c.1107T>C, XM_017029259.2:c.1107T>C, XM_017029259.1:c.1107T>C, XM_017029262.3:c.1107T>C, XM_017029262.2:c.1107T>C, XM_017029262.1:c.1107T>C, XM_017029260.2:c.1107T>C, XM_017029260.1:c.1107T>C, XM_017029261.2:c.1107T>C, XM_017029261.1:c.1107T>C, XM_047441810.1:c.768T>C, NM_033381.1:c.1092T>C, XM_047441811.1:c.1092T>C

Select item 14839521289.

rs1483952128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:108578099 (GRCh38)
X:107821329 (GRCh37)
Canonical SPDI:: NC_000023.11:108578098:C:G
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108578099C>G, NC_000023.10:g.107821329C>G, NG_011977.2:g.143176C>G, NM_000495.5:c.667C>G, NM_000495.4:c.667C>G, NM_033380.3:c.667C>G, NM_033380.2:c.667C>G, XM_011530849.3:c.682C>G, XM_011530849.2:c.682C>G, XM_011530849.1:c.343C>G, XM_017029259.3:c.682C>G, XM_017029259.2:c.682C>G, XM_017029259.1:c.682C>G, XM_017029262.3:c.682C>G, XM_017029262.2:c.682C>G, XM_017029262.1:c.682C>G, XM_017029260.2:c.682C>G, XM_017029260.1:c.682C>G, XM_017029261.2:c.682C>G, XM_017029261.1:c.682C>G, XM_047441810.1:c.343C>G, NM_033381.1:c.667C>G, XM_047441811.1:c.667C>G, NP_000486.1:p.Gln223Glu, NP_203699.1:p.Gln223Glu, XP_011529151.2:p.Gln228Glu, XP_016884748.1:p.Gln228Glu, XP_016884751.1:p.Gln228Glu, XP_016884749.1:p.Gln228Glu, XP_016884750.1:p.Gln228Glu, XP_047297766.1:p.Gln115Glu, XP_047297767.1:p.Gln223Glu

Select item 148382055810.

rs1483820558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:108586728 (GRCh38)
X:107829958 (GRCh37)
Canonical SPDI:: NC_000023.11:108586727:T:C
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108586728T>C, NC_000023.10:g.107829958T>C, NG_011977.2:g.151805T>C, NM_000495.5:c.1146T>C, NM_000495.4:c.1146T>C, NM_033380.3:c.1146T>C, NM_033380.2:c.1146T>C, XM_011530849.3:c.1161T>C, XM_011530849.2:c.1161T>C, XM_011530849.1:c.822T>C, XM_017029259.3:c.1161T>C, XM_017029259.2:c.1161T>C, XM_017029259.1:c.1161T>C, XM_017029262.3:c.1161T>C, XM_017029262.2:c.1161T>C, XM_017029262.1:c.1161T>C, XM_017029260.2:c.1161T>C, XM_017029260.1:c.1161T>C, XM_017029261.2:c.1161T>C, XM_017029261.1:c.1161T>C, XM_047441810.1:c.822T>C, NM_033381.1:c.1146T>C, XM_047441811.1:c.1146T>C

Select item 148365822411.

rs1483658224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:108591586 (GRCh38)
X:107834816 (GRCh37)
Canonical SPDI:: NC_000023.11:108591585:T:A,NC_000023.11:108591585:T:C
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.108591586T>A, NC_000023.11:g.108591586T>C, NC_000023.10:g.107834816T>A, NC_000023.10:g.107834816T>C, NG_011977.2:g.156663T>A, NG_011977.2:g.156663T>C, NM_000495.5:c.1365T>A, NM_000495.5:c.1365T>C, NM_000495.4:c.1365T>A, NM_000495.4:c.1365T>C, NM_033380.3:c.1365T>A, NM_033380.3:c.1365T>C, NM_033380.2:c.1365T>A, NM_033380.2:c.1365T>C, XM_011530849.3:c.1380T>A, XM_011530849.3:c.1380T>C, XM_011530849.2:c.1380T>A, XM_011530849.2:c.1380T>C, XM_011530849.1:c.1041T>A, XM_011530849.1:c.1041T>C, XM_017029259.3:c.1380T>A, XM_017029259.3:c.1380T>C, XM_017029259.2:c.1380T>A, XM_017029259.2:c.1380T>C, XM_017029259.1:c.1380T>A, XM_017029259.1:c.1380T>C, XM_017029262.3:c.1380T>A, XM_017029262.3:c.1380T>C, XM_017029262.2:c.1380T>A, XM_017029262.2:c.1380T>C, XM_017029262.1:c.1380T>A, XM_017029262.1:c.1380T>C, XM_017029260.2:c.1380T>A, XM_017029260.2:c.1380T>C, XM_017029260.1:c.1380T>A, XM_017029260.1:c.1380T>C, XM_017029261.2:c.1380T>A, XM_017029261.2:c.1380T>C, XM_017029261.1:c.1380T>A, XM_017029261.1:c.1380T>C, XM_047441810.1:c.1041T>A, XM_047441810.1:c.1041T>C, NM_033381.1:c.1365T>A, NM_033381.1:c.1365T>C, XM_047441811.1:c.1365T>A, XM_047441811.1:c.1365T>C

Select item 148301181512.

rs1483011815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:108595560 (GRCh38)
X:107838790 (GRCh37)
Canonical SPDI:: NC_000023.11:108595559:C:T
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.108595560C>T, NC_000023.10:g.107838790C>T, NG_011977.2:g.160637C>T, NM_000495.5:c.1475C>T, NM_000495.4:c.1475C>T, NM_033380.3:c.1475C>T, NM_033380.2:c.1475C>T, XM_011530849.3:c.1490C>T, XM_011530849.2:c.1490C>T, XM_011530849.1:c.1151C>T, XM_017029259.3:c.1490C>T, XM_017029259.2:c.1490C>T, XM_017029259.1:c.1490C>T, XM_017029262.3:c.1490C>T, XM_017029262.2:c.1490C>T, XM_017029262.1:c.1490C>T, XM_017029260.2:c.1490C>T, XM_017029260.1:c.1490C>T, XM_017029261.2:c.1490C>T, XM_017029261.1:c.1490C>T, XM_047441810.1:c.1151C>T, NM_033381.1:c.1475C>T, XM_047441811.1:c.1475C>T, NP_000486.1:p.Pro492Leu, NP_203699.1:p.Pro492Leu, XP_011529151.2:p.Pro497Leu, XP_016884748.1:p.Pro497Leu, XP_016884751.1:p.Pro497Leu, XP_016884749.1:p.Pro497Leu, XP_016884750.1:p.Pro497Leu, XP_047297766.1:p.Pro384Leu, XP_047297767.1:p.Pro492Leu

Select item 148283799913.

rs1482837999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:108597434 (GRCh38)
X:107840664 (GRCh37)
Canonical SPDI:: NC_000023.11:108597433:G:A
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108597434G>A, NC_000023.10:g.107840664G>A, NG_011977.2:g.162511G>A, NM_000495.5:c.1645G>A, NM_000495.4:c.1645G>A, NM_033380.3:c.1645G>A, NM_033380.2:c.1645G>A, XM_011530849.3:c.1660G>A, XM_011530849.2:c.1660G>A, XM_011530849.1:c.1321G>A, XM_017029259.3:c.1660G>A, XM_017029259.2:c.1660G>A, XM_017029259.1:c.1660G>A, XM_017029262.3:c.1660G>A, XM_017029262.2:c.1660G>A, XM_017029262.1:c.1660G>A, XM_017029260.2:c.1660G>A, XM_017029260.1:c.1660G>A, XM_017029261.2:c.1660G>A, XM_017029261.1:c.1660G>A, XM_047441810.1:c.1321G>A, NM_033381.1:c.1645G>A, XM_047441811.1:c.1645G>A, NP_000486.1:p.Asp549Asn, NP_203699.1:p.Asp549Asn, XP_011529151.2:p.Asp554Asn, XP_016884748.1:p.Asp554Asn, XP_016884751.1:p.Asp554Asn, XP_016884749.1:p.Asp554Asn, XP_016884750.1:p.Asp554Asn, XP_047297766.1:p.Asp441Asn, XP_047297767.1:p.Asp549Asn

Select item 148225879114.

rs1482258791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:108536015 (GRCh38)
X:107779245 (GRCh37)
Canonical SPDI:: NC_000023.11:108536014:A:G
Gene:: COL4A5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.108536015A>G, NC_000023.10:g.107779245A>G, NG_011977.2:g.101092A>G, XM_011530849.3:c.58A>G, XM_011530849.2:c.58A>G, XM_017029259.3:c.58A>G, XM_017029259.2:c.58A>G, XM_017029259.1:c.58A>G, XM_017029262.3:c.58A>G, XM_017029262.2:c.58A>G, XM_017029262.1:c.58A>G, XM_017029260.2:c.58A>G, XM_017029260.1:c.58A>G, XM_017029261.2:c.58A>G, XM_017029261.1:c.58A>G, XM_047441810.1:c.-282A>G, XP_011529151.2:p.Thr20Ala, XP_016884748.1:p.Thr20Ala, XP_016884751.1:p.Thr20Ala, XP_016884749.1:p.Thr20Ala, XP_016884750.1:p.Thr20Ala

Select item 148173716315.

rs1481737163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:108687523 (GRCh38)
X:107930753 (GRCh37)
Canonical SPDI:: NC_000023.11:108687522:C:A
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.108687523C>A, NC_000023.10:g.107930753C>A, NG_011977.2:g.252600C>A, NM_000495.5:c.4339C>A, NM_000495.4:c.4339C>A, NM_033380.3:c.4357C>A, NM_033380.2:c.4357C>A, XM_011530849.3:c.4372C>A, XM_011530849.2:c.4372C>A, XM_011530849.1:c.4033C>A, XM_017029259.3:c.4363C>A, XM_017029259.2:c.4363C>A, XM_017029259.1:c.4363C>A, XM_017029260.2:c.4354C>A, XM_017029260.1:c.4354C>A, XM_047441810.1:c.4033C>A, NM_033381.1:c.4348C>A, NP_000486.1:p.Gln1447Lys, NP_203699.1:p.Gln1453Lys, XP_011529151.2:p.Gln1458Lys, XP_016884748.1:p.Gln1455Lys, XP_016884749.1:p.Gln1452Lys, XP_047297766.1:p.Gln1345Lys

Select item 148143454016.

rs1481434540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:108595528 (GRCh38)
X:107838758 (GRCh37)
Canonical SPDI:: NC_000023.11:108595527:C:G,NC_000023.11:108595527:C:T
Gene:: COL4A5 (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)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.108595528C>G, NC_000023.11:g.108595528C>T, NC_000023.10:g.107838758C>G, NC_000023.10:g.107838758C>T, NG_011977.2:g.160605C>G, NG_011977.2:g.160605C>T, NM_000495.5:c.1443C>G, NM_000495.5:c.1443C>T, NM_000495.4:c.1443C>G, NM_000495.4:c.1443C>T, NM_033380.3:c.1443C>G, NM_033380.3:c.1443C>T, NM_033380.2:c.1443C>G, NM_033380.2:c.1443C>T, XM_011530849.3:c.1458C>G, XM_011530849.3:c.1458C>T, XM_011530849.2:c.1458C>G, XM_011530849.2:c.1458C>T, XM_011530849.1:c.1119C>G, XM_011530849.1:c.1119C>T, XM_017029259.3:c.1458C>G, XM_017029259.3:c.1458C>T, XM_017029259.2:c.1458C>G, XM_017029259.2:c.1458C>T, XM_017029259.1:c.1458C>G, XM_017029259.1:c.1458C>T, XM_017029262.3:c.1458C>G, XM_017029262.3:c.1458C>T, XM_017029262.2:c.1458C>G, XM_017029262.2:c.1458C>T, XM_017029262.1:c.1458C>G, XM_017029262.1:c.1458C>T, XM_017029260.2:c.1458C>G, XM_017029260.2:c.1458C>T, XM_017029260.1:c.1458C>G, XM_017029260.1:c.1458C>T, XM_017029261.2:c.1458C>G, XM_017029261.2:c.1458C>T, XM_017029261.1:c.1458C>G, XM_017029261.1:c.1458C>T, XM_047441810.1:c.1119C>G, XM_047441810.1:c.1119C>T, NM_033381.1:c.1443C>G, NM_033381.1:c.1443C>T, XM_047441811.1:c.1443C>G, XM_047441811.1:c.1443C>T, NP_000486.1:p.Cys481Trp, NP_203699.1:p.Cys481Trp, XP_011529151.2:p.Cys486Trp, XP_016884748.1:p.Cys486Trp, XP_016884751.1:p.Cys486Trp, XP_016884749.1:p.Cys486Trp, XP_016884750.1:p.Cys486Trp, XP_047297766.1:p.Cys373Trp, XP_047297767.1:p.Cys481Trp

Select item 148048550317.

rs1480485503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:108694865 (GRCh38)
X:107938095 (GRCh37)
Canonical SPDI:: NC_000023.11:108694864:A:C
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.108694865A>C, NC_000023.10:g.107938095A>C, NG_011977.2:g.259942A>C, NM_000495.5:c.4747A>C, NM_000495.4:c.4747A>C, NM_033380.3:c.4765A>C, NM_033380.2:c.4765A>C, XM_011530849.3:c.4780A>C, XM_011530849.2:c.4780A>C, XM_011530849.1:c.4441A>C, XM_017029259.3:c.4771A>C, XM_017029259.2:c.4771A>C, XM_017029259.1:c.4771A>C, XM_017029260.2:c.4762A>C, XM_017029260.1:c.4762A>C, XM_047441810.1:c.4441A>C, NM_033381.1:c.4756A>C, NP_000486.1:p.Ile1583Leu, NP_203699.1:p.Ile1589Leu, XP_011529151.2:p.Ile1594Leu, XP_016884748.1:p.Ile1591Leu, XP_016884749.1:p.Ile1588Leu, XP_047297766.1:p.Ile1481Leu

Select item 147898299718.

rs1478982997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:108595563 (GRCh38)
X:107838793 (GRCh37)
Canonical SPDI:: NC_000023.11:108595562:C:T
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108595563C>T, NC_000023.10:g.107838793C>T, NG_011977.2:g.160640C>T, NM_000495.5:c.1478C>T, NM_000495.4:c.1478C>T, NM_033380.3:c.1478C>T, NM_033380.2:c.1478C>T, XM_011530849.3:c.1493C>T, XM_011530849.2:c.1493C>T, XM_011530849.1:c.1154C>T, XM_017029259.3:c.1493C>T, XM_017029259.2:c.1493C>T, XM_017029259.1:c.1493C>T, XM_017029262.3:c.1493C>T, XM_017029262.2:c.1493C>T, XM_017029262.1:c.1493C>T, XM_017029260.2:c.1493C>T, XM_017029260.1:c.1493C>T, XM_017029261.2:c.1493C>T, XM_017029261.1:c.1493C>T, XM_047441810.1:c.1154C>T, NM_033381.1:c.1478C>T, XM_047441811.1:c.1478C>T, NP_000486.1:p.Pro493Leu, NP_203699.1:p.Pro493Leu, XP_011529151.2:p.Pro498Leu, XP_016884748.1:p.Pro498Leu, XP_016884751.1:p.Pro498Leu, XP_016884749.1:p.Pro498Leu, XP_016884750.1:p.Pro498Leu, XP_047297766.1:p.Pro385Leu, XP_047297767.1:p.Pro493Leu

Select item 147763766119.

rs1477637661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:108601914 (GRCh38)
X:107845144 (GRCh37)
Canonical SPDI:: NC_000023.11:108601913:T:C
Gene:: COL4A5 (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)
HGVS:: NC_000023.11:g.108601914T>C, NC_000023.10:g.107845144T>C, NG_011977.2:g.166991T>C, NM_000495.5:c.2071T>C, NM_000495.4:c.2071T>C, NM_033380.3:c.2071T>C, NM_033380.2:c.2071T>C, XM_011530849.3:c.2086T>C, XM_011530849.2:c.2086T>C, XM_011530849.1:c.1747T>C, XM_017029259.3:c.2086T>C, XM_017029259.2:c.2086T>C, XM_017029259.1:c.2086T>C, XM_017029262.3:c.2086T>C, XM_017029262.2:c.2086T>C, XM_017029262.1:c.2086T>C, XM_017029260.2:c.2086T>C, XM_017029260.1:c.2086T>C, XM_017029261.2:c.2086T>C, XM_017029261.1:c.2086T>C, XM_047441810.1:c.1747T>C, NM_033381.1:c.2071T>C, XM_047441811.1:c.2071T>C

Select item 147754646520.

rs1477546465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:108668446 (GRCh38)
X:107911676 (GRCh37)
Canonical SPDI:: NC_000023.11:108668445:T:C
Gene:: COL4A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.108668446T>C, NC_000023.10:g.107911676T>C, NG_011977.2:g.233523T>C, NM_000495.5:c.3732T>C, NM_000495.4:c.3732T>C, NM_033380.3:c.3732T>C, NM_033380.2:c.3732T>C, XM_011530849.3:c.3747T>C, XM_011530849.2:c.3747T>C, XM_011530849.1:c.3408T>C, XM_017029259.3:c.3747T>C, XM_017029259.2:c.3747T>C, XM_017029259.1:c.3747T>C, XM_017029262.3:c.3747T>C, XM_017029262.2:c.3747T>C, XM_017029262.1:c.3747T>C, XM_017029260.2:c.3747T>C, XM_017029260.1:c.3747T>C, XM_017029261.2:c.3747T>C, XM_017029261.1:c.3747T>C, XM_047441810.1:c.3408T>C, NM_033381.1:c.3732T>C, XM_047441811.1:c.3732T>C

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