SNP Links for Protein (Select 768006209) - SNP - NCBI

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Links from Protein

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Select item 14906634251.

rs1490663425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45052797 (GRCh38)
19:45556055 (GRCh37)
Canonical SPDI:: NC_000019.10:45052796:C:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45052797C>T, NC_000019.9:g.45556055C>T, NM_007056.3:c.204C>T, NM_007056.2:c.204C>T, XM_011526396.2:c.204C>T, XM_011526396.1:c.204C>T, NR_103529.2:n.297C>T, NR_103529.1:n.302C>T, XM_047438116.1:c.204C>T

Select item 14891136672.

rs1489113667 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:45070844 (GRCh38)
19:45574103 (GRCh37)
Canonical SPDI:: NC_000019.10:45070844:GG:GGG
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,terminator_codon_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45070846dup, NC_000019.9:g.45574104dup, XM_011526397.4:c.*1dup, XM_011526397.3:c.*1dup, XM_011526397.2:c.*1dup, XM_011526397.1:c.*1dup, NM_007056.3:c.*1dup, NM_007056.2:c.*1dup, XM_011526396.2:c.*1dup, XM_011526396.1:c.*1dup, NR_103529.2:n.2123dup, NR_103529.1:n.2128dup, NM_001278439.2:c.*1dup, NM_001278439.1:c.*1dup

Select item 14879186203.

rs1487918620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:45064606 (GRCh38)
19:45567864 (GRCh37)
Canonical SPDI:: NC_000019.10:45064605:G:A,NC_000019.10:45064605:G:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000013/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.45064606G>A, NC_000019.10:g.45064606G>T, NC_000019.9:g.45567864G>A, NC_000019.9:g.45567864G>T, XM_011526397.4:c.698G>A, XM_011526397.4:c.698G>T, XM_011526397.3:c.698G>A, XM_011526397.3:c.698G>T, XM_011526397.2:c.698G>A, XM_011526397.2:c.698G>T, XM_011526397.1:c.698G>A, XM_011526397.1:c.698G>T, NM_007056.3:c.1385G>A, NM_007056.3:c.1385G>T, NM_007056.2:c.1385G>A, NM_007056.2:c.1385G>T, XM_011526396.2:c.1385G>A, XM_011526396.2:c.1385G>T, XM_011526396.1:c.1385G>A, XM_011526396.1:c.1385G>T, NR_103529.2:n.1478G>A, NR_103529.2:n.1478G>T, NR_103529.1:n.1483G>A, NR_103529.1:n.1483G>T, NM_001278439.2:c.1199G>A, NM_001278439.2:c.1199G>T, NM_001278439.1:c.1199G>A, NM_001278439.1:c.1199G>T, XM_047438116.1:c.1385G>A, XM_047438116.1:c.1385G>T, XP_011524699.1:p.Gly233Asp, XP_011524699.1:p.Gly233Val, NP_008987.2:p.Gly462Asp, NP_008987.2:p.Gly462Val, XP_011524698.1:p.Gly462Asp, XP_011524698.1:p.Gly462Val, NP_001265368.1:p.Gly400Asp, NP_001265368.1:p.Gly400Val, XP_047294072.1:p.Gly462Asp, XP_047294072.1:p.Gly462Val

Select item 14876588794.

rs1487658879 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGACTCGCAGCCGCAGCC>- [Show Flanks]
Chromosome:: 19:45067450 (GRCh38)
19:45570708 (GRCh37)
Canonical SPDI:: NC_000019.10:45067442:CGCAGCCTGACTCGCAGCCGCAGCC:CGCAGCC
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCAGCC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.45067450_45067467del, NC_000019.9:g.45570708_45570725del, XM_011526397.4:c.836_853del, XM_011526397.3:c.836_853del, XM_011526397.2:c.836_853del, XM_011526397.1:c.836_853del, NM_007056.3:c.1523_1540del, NM_007056.2:c.1523_1540del, XM_011526396.2:c.1523_1540del, XM_011526396.1:c.1523_1540del, NR_103529.2:n.1616_1633del, NR_103529.1:n.1621_1638del, NM_001278439.2:c.1337_1354del, NM_001278439.1:c.1337_1354del, XM_047438116.1:c.1523_1540del, XP_011524699.1:p.Leu279_Ser284del, NP_008987.2:p.Leu508_Ser513del, XP_011524698.1:p.Leu508_Ser513del, NP_001265368.1:p.Leu446_Ser451del, XP_047294072.1:p.Leu508_Ser513del

Select item 14856052325.

rs1485605232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45052886 (GRCh38)
19:45556144 (GRCh37)
Canonical SPDI:: NC_000019.10:45052885:C:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45052886C>T, NC_000019.9:g.45556144C>T, NM_007056.3:c.293C>T, NM_007056.2:c.293C>T, XM_011526396.2:c.293C>T, XM_011526396.1:c.293C>T, NR_103529.2:n.386C>T, NR_103529.1:n.391C>T, XM_047438116.1:c.293C>T, NP_008987.2:p.Thr98Ile, XP_011524698.1:p.Thr98Ile, XP_047294072.1:p.Thr98Ile

Select item 14855321536.

rs1485532153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45067548 (GRCh38)
19:45570806 (GRCh37)
Canonical SPDI:: NC_000019.10:45067547:C:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45067548C>T, NC_000019.9:g.45570806C>T, XM_011526397.4:c.934C>T, XM_011526397.3:c.934C>T, XM_011526397.2:c.934C>T, XM_011526397.1:c.934C>T, NM_007056.3:c.1621C>T, NM_007056.2:c.1621C>T, XM_011526396.2:c.1621C>T, XM_011526396.1:c.1621C>T, NR_103529.2:n.1714C>T, NR_103529.1:n.1719C>T, NM_001278439.2:c.1435C>T, NM_001278439.1:c.1435C>T, XM_047438116.1:c.1621C>T

Select item 14851014797.

rs1485101479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45052892 (GRCh38)
19:45556150 (GRCh37)
Canonical SPDI:: NC_000019.10:45052891:T:C
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00044/9 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.45052892T>C, NC_000019.9:g.45556150T>C, NM_007056.3:c.299T>C, NM_007056.2:c.299T>C, XM_011526396.2:c.299T>C, XM_011526396.1:c.299T>C, NR_103529.2:n.392T>C, NR_103529.1:n.397T>C, XM_047438116.1:c.299T>C, NP_008987.2:p.Ile100Thr, XP_011524698.1:p.Ile100Thr, XP_047294072.1:p.Ile100Thr

Select item 14847001088.

rs1484700108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45067473 (GRCh38)
19:45570731 (GRCh37)
Canonical SPDI:: NC_000019.10:45067472:C:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45067473C>T, NC_000019.9:g.45570731C>T, XM_011526397.4:c.859C>T, XM_011526397.3:c.859C>T, XM_011526397.2:c.859C>T, XM_011526397.1:c.859C>T, NM_007056.3:c.1546C>T, NM_007056.2:c.1546C>T, XM_011526396.2:c.1546C>T, XM_011526396.1:c.1546C>T, NR_103529.2:n.1639C>T, NR_103529.1:n.1644C>T, NM_001278439.2:c.1360C>T, NM_001278439.1:c.1360C>T, XM_047438116.1:c.1546C>T, XP_011524699.1:p.Pro287Ser, NP_008987.2:p.Pro516Ser, XP_011524698.1:p.Pro516Ser, NP_001265368.1:p.Pro454Ser, XP_047294072.1:p.Pro516Ser

Select item 14841714159.

rs1484171415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45064347 (GRCh38)
19:45567605 (GRCh37)
Canonical SPDI:: NC_000019.10:45064346:C:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45064347C>T, NC_000019.9:g.45567605C>T, XM_011526397.4:c.439C>T, XM_011526397.3:c.439C>T, XM_011526397.2:c.439C>T, XM_011526397.1:c.439C>T, NM_007056.3:c.1126C>T, NM_007056.2:c.1126C>T, XM_011526396.2:c.1126C>T, XM_011526396.1:c.1126C>T, NR_103529.2:n.1219C>T, NR_103529.1:n.1224C>T, NM_001278439.2:c.940C>T, NM_001278439.1:c.940C>T, XM_047438116.1:c.1126C>T, XP_011524699.1:p.Arg147Cys, NP_008987.2:p.Arg376Cys, XP_011524698.1:p.Arg376Cys, NP_001265368.1:p.Arg314Cys, XP_047294072.1:p.Arg376Cys

Select item 148411000710.

rs1484110007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45062184 (GRCh38)
19:45565442 (GRCh37)
Canonical SPDI:: NC_000019.10:45062183:C:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45062184C>T, NC_000019.9:g.45565442C>T, XM_011526397.4:c.207C>T, XM_011526397.3:c.207C>T, XM_011526397.2:c.207C>T, XM_011526397.1:c.207C>T, NM_007056.3:c.894C>T, NM_007056.2:c.894C>T, XM_011526396.2:c.894C>T, XM_011526396.1:c.894C>T, NR_103529.2:n.987C>T, NR_103529.1:n.992C>T, NM_001278439.2:c.708C>T, NM_001278439.1:c.708C>T, XM_047438116.1:c.894C>T

Select item 148405854111.

rs1484058541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:45064399 (GRCh38)
19:45567657 (GRCh37)
Canonical SPDI:: NC_000019.10:45064398:G:A,NC_000019.10:45064398:G:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000015/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.45064399G>A, NC_000019.10:g.45064399G>T, NC_000019.9:g.45567657G>A, NC_000019.9:g.45567657G>T, XM_011526397.4:c.491G>A, XM_011526397.4:c.491G>T, XM_011526397.3:c.491G>A, XM_011526397.3:c.491G>T, XM_011526397.2:c.491G>A, XM_011526397.2:c.491G>T, XM_011526397.1:c.491G>A, XM_011526397.1:c.491G>T, NM_007056.3:c.1178G>A, NM_007056.3:c.1178G>T, NM_007056.2:c.1178G>A, NM_007056.2:c.1178G>T, XM_011526396.2:c.1178G>A, XM_011526396.2:c.1178G>T, XM_011526396.1:c.1178G>A, XM_011526396.1:c.1178G>T, NR_103529.2:n.1271G>A, NR_103529.2:n.1271G>T, NR_103529.1:n.1276G>A, NR_103529.1:n.1276G>T, NM_001278439.2:c.992G>A, NM_001278439.2:c.992G>T, NM_001278439.1:c.992G>A, NM_001278439.1:c.992G>T, XM_047438116.1:c.1178G>A, XM_047438116.1:c.1178G>T, XP_011524699.1:p.Arg164His, XP_011524699.1:p.Arg164Leu, NP_008987.2:p.Arg393His, NP_008987.2:p.Arg393Leu, XP_011524698.1:p.Arg393His, XP_011524698.1:p.Arg393Leu, NP_001265368.1:p.Arg331His, NP_001265368.1:p.Arg331Leu, XP_047294072.1:p.Arg393His, XP_047294072.1:p.Arg393Leu

Select item 148400406312.

rs1484004063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45069963 (GRCh38)
19:45573221 (GRCh37)
Canonical SPDI:: NC_000019.10:45069962:C:T
Gene:: CLASRP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45069963C>T, NC_000019.9:g.45573221C>T, XM_011526397.4:c.1207C>T, XM_011526397.3:c.1207C>T, XM_011526397.2:c.1207C>T, XM_011526397.1:c.1207C>T, XM_011526396.2:c.1894C>T, XM_011526396.1:c.1894C>T, XP_011524699.1:p.Leu403Phe, XP_011524698.1:p.Leu632Phe

Select item 148382038213.

rs1483820382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:45052102 (GRCh38)
19:45555360 (GRCh37)
Canonical SPDI:: NC_000019.10:45052101:A:G
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000019.10:g.45052102A>G, NC_000019.9:g.45555360A>G, NM_007056.3:c.131A>G, NM_007056.2:c.131A>G, XM_011526396.2:c.131A>G, XM_011526396.1:c.131A>G, NR_103529.2:n.224A>G, NR_103529.1:n.229A>G, XM_047438116.1:c.131A>G, NP_008987.2:p.His44Arg, XP_011524698.1:p.His44Arg, XP_047294072.1:p.His44Arg

Select item 148312826714.

rs1483128267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:45064135 (GRCh38)
19:45567393 (GRCh37)
Canonical SPDI:: NC_000019.10:45064134:T:C,NC_000019.10:45064134:T:G
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45064135T>C, NC_000019.10:g.45064135T>G, NC_000019.9:g.45567393T>C, NC_000019.9:g.45567393T>G, XM_011526397.4:c.342T>C, XM_011526397.4:c.342T>G, XM_011526397.3:c.342T>C, XM_011526397.3:c.342T>G, XM_011526397.2:c.342T>C, XM_011526397.2:c.342T>G, XM_011526397.1:c.342T>C, XM_011526397.1:c.342T>G, NM_007056.3:c.1029T>C, NM_007056.3:c.1029T>G, NM_007056.2:c.1029T>C, NM_007056.2:c.1029T>G, XM_011526396.2:c.1029T>C, XM_011526396.2:c.1029T>G, XM_011526396.1:c.1029T>C, XM_011526396.1:c.1029T>G, NR_103529.2:n.1122T>C, NR_103529.2:n.1122T>G, NR_103529.1:n.1127T>C, NR_103529.1:n.1127T>G, NM_001278439.2:c.843T>C, NM_001278439.2:c.843T>G, NM_001278439.1:c.843T>C, NM_001278439.1:c.843T>G, XM_047438116.1:c.1029T>C, XM_047438116.1:c.1029T>G

Select item 148224957115.

rs1482249571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:45064507 (GRCh38)
19:45567765 (GRCh37)
Canonical SPDI:: NC_000019.10:45064506:C:G
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45064507C>G, NC_000019.9:g.45567765C>G, XM_011526397.4:c.599C>G, XM_011526397.3:c.599C>G, XM_011526397.2:c.599C>G, XM_011526397.1:c.599C>G, NM_007056.3:c.1286C>G, NM_007056.2:c.1286C>G, XM_011526396.2:c.1286C>G, XM_011526396.1:c.1286C>G, NR_103529.2:n.1379C>G, NR_103529.1:n.1384C>G, NM_001278439.2:c.1100C>G, NM_001278439.1:c.1100C>G, XM_047438116.1:c.1286C>G, XP_011524699.1:p.Ser200Cys, NP_008987.2:p.Ser429Cys, XP_011524698.1:p.Ser429Cys, NP_001265368.1:p.Ser367Cys, XP_047294072.1:p.Ser429Cys

Select item 148199868816.

rs1481998688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGCCGCAGCC [Show Flanks]
Chromosome:: 19:45067480 (GRCh38)
19:45570739 (GRCh37)
Canonical SPDI:: NC_000019.10:45067480:CAGCCAGAGCCGCAGCC:CAGCCAGAGCCGCAGCCAGAGCCGCAGCC
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CAGCCAGAGCCGCAGCCAGAGCCGCAGCC=0./0 (ALFA)
HGVS:: NC_000019.10:g.45067486_45067497dup, NC_000019.9:g.45570744_45570755dup, XM_011526397.4:c.872_883dup, XM_011526397.3:c.872_883dup, XM_011526397.2:c.872_883dup, XM_011526397.1:c.872_883dup, NM_007056.3:c.1559_1570dup, NM_007056.2:c.1559_1570dup, XM_011526396.2:c.1559_1570dup, XM_011526396.1:c.1559_1570dup, NR_103529.2:n.1652_1663dup, NR_103529.1:n.1657_1668dup, NM_001278439.2:c.1373_1384dup, NM_001278439.1:c.1373_1384dup, XM_047438116.1:c.1559_1570dup, XP_011524699.1:p.Gln291_Ser294dup, NP_008987.2:p.Gln520_Ser523dup, XP_011524698.1:p.Gln520_Ser523dup, NP_001265368.1:p.Gln458_Ser461dup, XP_047294072.1:p.Gln520_Ser523dup

Select item 148082729717.

rs1480827297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45053130 (GRCh38)
19:45556388 (GRCh37)
Canonical SPDI:: NC_000019.10:45053129:G:C
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45053130G>C, NC_000019.9:g.45556388G>C, NM_007056.3:c.332G>C, NM_007056.2:c.332G>C, XM_011526396.2:c.332G>C, XM_011526396.1:c.332G>C, NR_103529.2:n.425G>C, NR_103529.1:n.430G>C, NM_001278439.2:c.146G>C, NM_001278439.1:c.146G>C, XM_047438116.1:c.332G>C, NP_008987.2:p.Cys111Ser, XP_011524698.1:p.Cys111Ser, NP_001265368.1:p.Cys49Ser, XP_047294072.1:p.Cys111Ser

Select item 148079830318.

rs1480798303 has merged into rs1410009723 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>-,GAGGAG [Show Flanks]
Chromosome:: 19:45057841 (GRCh38)
19:45561099 (GRCh37)
Canonical SPDI:: NC_000019.10:45057831:GAGGAGGAGGAG:GAGGAGGAG,NC_000019.10:45057831:GAGGAGGAGGAG:GAGGAGGAGGAGGAG
Gene:: CLASRP (Varview)
Functional Consequence:: inframe_insertion,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAGGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.45057832GAG[3], NC_000019.10:g.45057832GAG[5], NC_000019.9:g.45561090GAG[3], NC_000019.9:g.45561090GAG[5], XM_011526397.4:c.-125GAG[3], XM_011526397.4:c.-125GAG[5], XM_011526397.3:c.-125GAG[3], XM_011526397.3:c.-125GAG[5], XM_011526397.2:c.-125GAG[3], XM_011526397.2:c.-125GAG[5], XM_011526397.1:c.-125GAG[3], XM_011526397.1:c.-125GAG[5], NM_007056.3:c.547GAG[3], NM_007056.3:c.547GAG[5], NM_007056.2:c.547GAG[3], NM_007056.2:c.547GAG[5], XM_011526396.2:c.547GAG[3], XM_011526396.2:c.547GAG[5], XM_011526396.1:c.547GAG[3], XM_011526396.1:c.547GAG[5], NR_103529.2:n.640GAG[3], NR_103529.2:n.640GAG[5], NR_103529.1:n.645GAG[3], NR_103529.1:n.645GAG[5], NM_001278439.2:c.361GAG[3], NM_001278439.2:c.361GAG[5], NM_001278439.1:c.361GAG[3], NM_001278439.1:c.361GAG[5], XM_047438116.1:c.547GAG[3], XM_047438116.1:c.547GAG[5], NP_008987.2:p.Glu186del, NP_008987.2:p.Glu186dup, XP_011524698.1:p.Glu186del, XP_011524698.1:p.Glu186dup, NP_001265368.1:p.Glu124del, NP_001265368.1:p.Glu124dup, XP_047294072.1:p.Glu186del, XP_047294072.1:p.Glu186dup

Select item 147823018519.

rs1478230185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45064360 (GRCh38)
19:45567618 (GRCh37)
Canonical SPDI:: NC_000019.10:45064359:C:A,NC_000019.10:45064359:C:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45064360C>A, NC_000019.10:g.45064360C>T, NC_000019.9:g.45567618C>A, NC_000019.9:g.45567618C>T, XM_011526397.4:c.452C>A, XM_011526397.4:c.452C>T, XM_011526397.3:c.452C>A, XM_011526397.3:c.452C>T, XM_011526397.2:c.452C>A, XM_011526397.2:c.452C>T, XM_011526397.1:c.452C>A, XM_011526397.1:c.452C>T, NM_007056.3:c.1139C>A, NM_007056.3:c.1139C>T, NM_007056.2:c.1139C>A, NM_007056.2:c.1139C>T, XM_011526396.2:c.1139C>A, XM_011526396.2:c.1139C>T, XM_011526396.1:c.1139C>A, XM_011526396.1:c.1139C>T, NR_103529.2:n.1232C>A, NR_103529.2:n.1232C>T, NR_103529.1:n.1237C>A, NR_103529.1:n.1237C>T, NM_001278439.2:c.953C>A, NM_001278439.2:c.953C>T, NM_001278439.1:c.953C>A, NM_001278439.1:c.953C>T, XM_047438116.1:c.1139C>A, XM_047438116.1:c.1139C>T, XP_011524699.1:p.Ser151Tyr, XP_011524699.1:p.Ser151Phe, NP_008987.2:p.Ser380Tyr, NP_008987.2:p.Ser380Phe, XP_011524698.1:p.Ser380Tyr, XP_011524698.1:p.Ser380Phe, NP_001265368.1:p.Ser318Tyr, NP_001265368.1:p.Ser318Phe, XP_047294072.1:p.Ser380Tyr, XP_047294072.1:p.Ser380Phe

Select item 147763226020.

rs1477632260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:45060597 (GRCh38)
19:45563855 (GRCh37)
Canonical SPDI:: NC_000019.10:45060596:G:T
Gene:: CLASRP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45060597G>T, NC_000019.9:g.45563855G>T, XM_011526397.4:c.146G>T, XM_011526397.3:c.146G>T, XM_011526397.2:c.146G>T, XM_011526397.1:c.146G>T, NM_007056.3:c.833G>T, NM_007056.2:c.833G>T, XM_011526396.2:c.833G>T, XM_011526396.1:c.833G>T, NR_103529.2:n.926G>T, NR_103529.1:n.931G>T, NM_001278439.2:c.647G>T, NM_001278439.1:c.647G>T, XM_047438116.1:c.833G>T, XP_011524699.1:p.Arg49Leu, NP_008987.2:p.Arg278Leu, XP_011524698.1:p.Arg278Leu, NP_001265368.1:p.Arg216Leu, XP_047294072.1:p.Arg278Leu

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