SNP Links for Protein (Select 544710995) - SNP

Links from Protein

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Select item 14907435721.

rs1490743572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:115587107 (GRCh38)
8:116599334 (GRCh37)
Canonical SPDI:: NC_000008.11:115587106:A:G
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115587107A>G, NC_000008.10:g.116599334A>G, NG_012383.3:g.86895T>C, NM_014112.5:c.2594T>C, NM_014112.4:c.2594T>C, NM_014112.3:c.2594T>C, NM_014112.2:c.2594T>C, NM_001282903.3:c.2573T>C, NM_001282903.2:c.2573T>C, NM_001282903.1:c.2573T>C, NM_001282902.3:c.2567T>C, NM_001282902.2:c.2567T>C, NM_001282902.1:c.2567T>C, NM_001330599.2:c.2555T>C, NM_001330599.1:c.2555T>C, NP_054831.2:p.Phe865Ser, NP_001269832.1:p.Phe858Ser, NP_001269831.1:p.Phe856Ser, NP_001317528.1:p.Phe852Ser

Select item 14857726482.

rs1485772648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:115603920 (GRCh38)
8:116616147 (GRCh37)
Canonical SPDI:: NC_000008.11:115603919:T:C
Gene:: TRPS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115603920T>C, NC_000008.10:g.116616147T>C, NG_012383.3:g.70082A>G, NM_014112.5:c.2049A>G, NM_014112.4:c.2049A>G, NM_014112.3:c.2049A>G, NM_014112.2:c.2049A>G, NM_001282903.3:c.2028A>G, NM_001282903.2:c.2028A>G, NM_001282903.1:c.2028A>G, NM_001282902.3:c.2022A>G, NM_001282902.2:c.2022A>G, NM_001282902.1:c.2022A>G, NM_001330599.2:c.2010A>G, NM_001330599.1:c.2010A>G

Select item 14825057093.

rs1482505709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:115414068 (GRCh38)
8:116426296 (GRCh37)
Canonical SPDI:: NC_000008.11:115414067:A:G
Gene:: TRPS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.115414068A>G, NC_000008.10:g.116426296A>G, NG_012383.3:g.259934T>C, NM_014112.5:c.3840T>C, NM_014112.4:c.3840T>C, NM_014112.3:c.3840T>C, NM_014112.2:c.3840T>C, NM_001282903.3:c.3819T>C, NM_001282903.2:c.3819T>C, NM_001282903.1:c.3819T>C, NM_001282902.3:c.3813T>C, NM_001282902.2:c.3813T>C, NM_001282902.1:c.3813T>C, NM_001330599.2:c.3801T>C, NM_001330599.1:c.3801T>C

Select item 14823188024.

rs1482318802 [Homo sapiens]

Variant type:: DEL
Alleles:: ACT>- [Show Flanks]
Chromosome:: 8:115587323 (GRCh38)
8:116599550 (GRCh37)
Canonical SPDI:: NC_000008.11:115587322:ACT:
Gene:: TRPS1 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.115587323_115587325del, NC_000008.10:g.116599550_116599552del, NG_012383.3:g.86677_86679del, NM_014112.5:c.2376_2378del, NM_014112.4:c.2376_2378del, NM_014112.3:c.2376_2378del, NM_014112.2:c.2376_2378del, NM_001282903.3:c.2355_2357del, NM_001282903.2:c.2355_2357del, NM_001282903.1:c.2355_2357del, NM_001282902.3:c.2349_2351del, NM_001282902.2:c.2349_2351del, NM_001282902.1:c.2349_2351del, NM_001330599.2:c.2337_2339del, NM_001330599.1:c.2337_2339del, NP_054831.2:p.Lys792_Val793delinsAsn, NP_001269832.1:p.Lys785_Val786delinsAsn, NP_001269831.1:p.Lys783_Val784delinsAsn, NP_001317528.1:p.Lys779_Val780delinsAsn

Select item 14802101595.

rs1480210159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:115587358 (GRCh38)
8:116599585 (GRCh37)
Canonical SPDI:: NC_000008.11:115587357:C:G
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115587358C>G, NC_000008.10:g.116599585C>G, NG_012383.3:g.86644G>C, NM_014112.5:c.2343G>C, NM_014112.4:c.2343G>C, NM_014112.3:c.2343G>C, NM_014112.2:c.2343G>C, NM_001282903.3:c.2322G>C, NM_001282903.2:c.2322G>C, NM_001282903.1:c.2322G>C, NM_001282902.3:c.2316G>C, NM_001282902.2:c.2316G>C, NM_001282902.1:c.2316G>C, NM_001330599.2:c.2304G>C, NM_001330599.1:c.2304G>C, NP_054831.2:p.Glu781Asp, NP_001269832.1:p.Glu774Asp, NP_001269831.1:p.Glu772Asp, NP_001317528.1:p.Glu768Asp

Select item 14798641986.

rs1479864198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:115620035 (GRCh38)
8:116632262 (GRCh37)
Canonical SPDI:: NC_000008.11:115620034:A:T
Gene:: TRPS1 (Varview)
Functional Consequence:: synonymous_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)
HGVS:: NC_000008.11:g.115620035A>T, NC_000008.10:g.116632262A>T, NG_012383.3:g.53967T>A, NM_014112.5:c.63T>A, NM_014112.4:c.63T>A, NM_014112.3:c.63T>A, NM_014112.2:c.63T>A, NM_001282903.3:c.42T>A, NM_001282903.2:c.42T>A, NM_001282903.1:c.42T>A, NM_001282902.3:c.36T>A, NM_001282902.2:c.36T>A, NM_001282902.1:c.36T>A, NM_001330599.2:c.24T>A, NM_001330599.1:c.24T>A

Select item 14792137197.

rs1479213719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:115603933 (GRCh38)
8:116616160 (GRCh37)
Canonical SPDI:: NC_000008.11:115603932:T:A
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115603933T>A, NC_000008.10:g.116616160T>A, NG_012383.3:g.70069A>T, NM_014112.5:c.2036A>T, NM_014112.4:c.2036A>T, NM_014112.3:c.2036A>T, NM_014112.2:c.2036A>T, NM_001282903.3:c.2015A>T, NM_001282903.2:c.2015A>T, NM_001282903.1:c.2015A>T, NM_001282902.3:c.2009A>T, NM_001282902.2:c.2009A>T, NM_001282902.1:c.2009A>T, NM_001330599.2:c.1997A>T, NM_001330599.1:c.1997A>T, NP_054831.2:p.His679Leu, NP_001269832.1:p.His672Leu, NP_001269831.1:p.His670Leu, NP_001317528.1:p.His666Leu

Select item 14782329868.

rs1478232986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:115604291 (GRCh38)
8:116616518 (GRCh37)
Canonical SPDI:: NC_000008.11:115604290:G:A
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115604291G>A, NC_000008.10:g.116616518G>A, NG_012383.3:g.69711C>T, NM_014112.5:c.1678C>T, NM_014112.4:c.1678C>T, NM_014112.3:c.1678C>T, NM_014112.2:c.1678C>T, NM_001282903.3:c.1657C>T, NM_001282903.2:c.1657C>T, NM_001282903.1:c.1657C>T, NM_001282902.3:c.1651C>T, NM_001282902.2:c.1651C>T, NM_001282902.1:c.1651C>T, NM_001330599.2:c.1639C>T, NM_001330599.1:c.1639C>T, NP_054831.2:p.Leu560Phe, NP_001269832.1:p.Leu553Phe, NP_001269831.1:p.Leu551Phe, NP_001317528.1:p.Leu547Phe

Select item 14779063329.

rs1477906332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:115619978 (GRCh38)
8:116632205 (GRCh37)
Canonical SPDI:: NC_000008.11:115619977:T:C
Gene:: TRPS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115619978T>C, NC_000008.10:g.116632205T>C, NG_012383.3:g.54024A>G, NM_014112.5:c.120A>G, NM_014112.4:c.120A>G, NM_014112.3:c.120A>G, NM_014112.2:c.120A>G, NM_001282903.3:c.99A>G, NM_001282903.2:c.99A>G, NM_001282903.1:c.99A>G, NM_001282902.3:c.93A>G, NM_001282902.2:c.93A>G, NM_001282902.1:c.93A>G, NM_001330599.2:c.81A>G, NM_001330599.1:c.81A>G

Select item 147774799610.

rs1477747996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:115414058 (GRCh38)
8:116426286 (GRCh37)
Canonical SPDI:: NC_000008.11:115414057:C:T
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.115414058C>T, NC_000008.10:g.116426286C>T, NG_012383.3:g.259944G>A, NM_014112.5:c.3850G>A, NM_014112.4:c.3850G>A, NM_014112.3:c.3850G>A, NM_014112.2:c.3850G>A, NM_001282903.3:c.3829G>A, NM_001282903.2:c.3829G>A, NM_001282903.1:c.3829G>A, NM_001282902.3:c.3823G>A, NM_001282902.2:c.3823G>A, NM_001282902.1:c.3823G>A, NM_001330599.2:c.3811G>A, NM_001330599.1:c.3811G>A, NP_054831.2:p.Ala1284Thr, NP_001269832.1:p.Ala1277Thr, NP_001269831.1:p.Ala1275Thr, NP_001317528.1:p.Ala1271Thr

Select item 147719392111.

rs1477193921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:115619469 (GRCh38)
8:116631696 (GRCh37)
Canonical SPDI:: NC_000008.11:115619468:A:G
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115619469A>G, NC_000008.10:g.116631696A>G, NG_012383.3:g.54533T>C, NM_014112.5:c.629T>C, NM_014112.4:c.629T>C, NM_014112.3:c.629T>C, NM_014112.2:c.629T>C, NM_001282903.3:c.608T>C, NM_001282903.2:c.608T>C, NM_001282903.1:c.608T>C, NM_001282902.3:c.602T>C, NM_001282902.2:c.602T>C, NM_001282902.1:c.602T>C, NM_001330599.2:c.590T>C, NM_001330599.1:c.590T>C, NP_054831.2:p.Leu210Pro, NP_001269832.1:p.Leu203Pro, NP_001269831.1:p.Leu201Pro, NP_001317528.1:p.Leu197Pro

Select item 147716831712.

rs1477168317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:115604070 (GRCh38)
8:116616297 (GRCh37)
Canonical SPDI:: NC_000008.11:115604069:T:C
Gene:: TRPS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.115604070T>C, NC_000008.10:g.116616297T>C, NG_012383.3:g.69932A>G, NM_014112.5:c.1899A>G, NM_014112.4:c.1899A>G, NM_014112.3:c.1899A>G, NM_014112.2:c.1899A>G, NM_001282903.3:c.1878A>G, NM_001282903.2:c.1878A>G, NM_001282903.1:c.1878A>G, NM_001282902.3:c.1872A>G, NM_001282902.2:c.1872A>G, NM_001282902.1:c.1872A>G, NM_001330599.2:c.1860A>G, NM_001330599.1:c.1860A>G

Select item 147679499613.

rs1476794996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:115619154 (GRCh38)
8:116631381 (GRCh37)
Canonical SPDI:: NC_000008.11:115619153:A:G
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.115619154A>G, NC_000008.10:g.116631381A>G, NG_012383.3:g.54848T>C, NM_014112.5:c.944T>C, NM_014112.4:c.944T>C, NM_014112.3:c.944T>C, NM_014112.2:c.944T>C, NM_001282903.3:c.923T>C, NM_001282903.2:c.923T>C, NM_001282903.1:c.923T>C, NM_001282902.3:c.917T>C, NM_001282902.2:c.917T>C, NM_001282902.1:c.917T>C, NM_001330599.2:c.905T>C, NM_001330599.1:c.905T>C, NP_054831.2:p.Leu315Pro, NP_001269832.1:p.Leu308Pro, NP_001269831.1:p.Leu306Pro, NP_001317528.1:p.Leu302Pro

Select item 147515418114.

rs1475154181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:115619936 (GRCh38)
8:116632163 (GRCh37)
Canonical SPDI:: NC_000008.11:115619935:C:G,NC_000008.11:115619935:C:T
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.115619936C>G, NC_000008.11:g.115619936C>T, NC_000008.10:g.116632163C>G, NC_000008.10:g.116632163C>T, NG_012383.3:g.54066G>C, NG_012383.3:g.54066G>A, NM_014112.5:c.162G>C, NM_014112.5:c.162G>A, NM_014112.4:c.162G>C, NM_014112.4:c.162G>A, NM_014112.3:c.162G>C, NM_014112.3:c.162G>A, NM_014112.2:c.162G>C, NM_014112.2:c.162G>A, NM_001282903.3:c.141G>C, NM_001282903.3:c.141G>A, NM_001282903.2:c.141G>C, NM_001282903.2:c.141G>A, NM_001282903.1:c.141G>C, NM_001282903.1:c.141G>A, NM_001282902.3:c.135G>C, NM_001282902.3:c.135G>A, NM_001282902.2:c.135G>C, NM_001282902.2:c.135G>A, NM_001282902.1:c.135G>C, NM_001282902.1:c.135G>A, NM_001330599.2:c.123G>C, NM_001330599.2:c.123G>A, NM_001330599.1:c.123G>C, NM_001330599.1:c.123G>A, NP_054831.2:p.Gln54His, NP_001269832.1:p.Gln47His, NP_001269831.1:p.Gln45His, NP_001317528.1:p.Gln41His

Select item 147430077315.

rs1474300773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:115604182 (GRCh38)
8:116616409 (GRCh37)
Canonical SPDI:: NC_000008.11:115604181:T:G
Gene:: TRPS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115604182T>G, NC_000008.10:g.116616409T>G, NG_012383.3:g.69820A>C, NM_014112.5:c.1787A>C, NM_014112.4:c.1787A>C, NM_014112.3:c.1787A>C, NM_014112.2:c.1787A>C, NM_001282903.3:c.1766A>C, NM_001282903.2:c.1766A>C, NM_001282903.1:c.1766A>C, NM_001282902.3:c.1760A>C, NM_001282902.2:c.1760A>C, NM_001282902.1:c.1760A>C, NM_001330599.2:c.1748A>C, NM_001330599.1:c.1748A>C, NP_054831.2:p.Tyr596Ser, NP_001269832.1:p.Tyr589Ser, NP_001269831.1:p.Tyr587Ser, NP_001317528.1:p.Tyr583Ser

Select item 147196336116.

rs1471963361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:115619784 (GRCh38)
8:116632011 (GRCh37)
Canonical SPDI:: NC_000008.11:115619783:C:A
Gene:: TRPS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115619784C>A, NC_000008.10:g.116632011C>A, NG_012383.3:g.54218G>T, NM_014112.5:c.314G>T, NM_014112.4:c.314G>T, NM_014112.3:c.314G>T, NM_014112.2:c.314G>T, NM_001282903.3:c.293G>T, NM_001282903.2:c.293G>T, NM_001282903.1:c.293G>T, NM_001282902.3:c.287G>T, NM_001282902.2:c.287G>T, NM_001282902.1:c.287G>T, NM_001330599.2:c.275G>T, NM_001330599.1:c.275G>T, NP_054831.2:p.Ser105Ile, NP_001269832.1:p.Ser98Ile, NP_001269831.1:p.Ser96Ile, NP_001317528.1:p.Ser92Ile

Select item 147107770817.

rs1471077708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:115604434 (GRCh38)
8:116616661 (GRCh37)
Canonical SPDI:: NC_000008.11:115604433:T:C,NC_000008.11:115604433:T:G
Gene:: TRPS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.115604434T>C, NC_000008.11:g.115604434T>G, NC_000008.10:g.116616661T>C, NC_000008.10:g.116616661T>G, NG_012383.3:g.69568A>G, NG_012383.3:g.69568A>C, NM_014112.5:c.1535A>G, NM_014112.5:c.1535A>C, NM_014112.4:c.1535A>G, NM_014112.4:c.1535A>C, NM_014112.3:c.1535A>G, NM_014112.3:c.1535A>C, NM_014112.2:c.1535A>G, NM_014112.2:c.1535A>C, NM_001282903.3:c.1514A>G, NM_001282903.3:c.1514A>C, NM_001282903.2:c.1514A>G, NM_001282903.2:c.1514A>C, NM_001282903.1:c.1514A>G, NM_001282903.1:c.1514A>C, NM_001282902.3:c.1508A>G, NM_001282902.3:c.1508A>C, NM_001282902.2:c.1508A>G, NM_001282902.2:c.1508A>C, NM_001282902.1:c.1508A>G, NM_001282902.1:c.1508A>C, NM_001330599.2:c.1496A>G, NM_001330599.2:c.1496A>C, NM_001330599.1:c.1496A>G, NM_001330599.1:c.1496A>C, NP_054831.2:p.Asp512Gly, NP_054831.2:p.Asp512Ala, NP_001269832.1:p.Asp505Gly, NP_001269832.1:p.Asp505Ala, NP_001269831.1:p.Asp503Gly, NP_001269831.1:p.Asp503Ala, NP_001317528.1:p.Asp499Gly, NP_001317528.1:p.Asp499Ala

Select item 147066664618.

rs1470666646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:115603948 (GRCh38)
8:116616175 (GRCh37)
Canonical SPDI:: NC_000008.11:115603947:T:C
Gene:: TRPS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.115603948T>C, NC_000008.10:g.116616175T>C, NG_012383.3:g.70054A>G, NM_014112.5:c.2021A>G, NM_014112.4:c.2021A>G, NM_014112.3:c.2021A>G, NM_014112.2:c.2021A>G, NM_001282903.3:c.2000A>G, NM_001282903.2:c.2000A>G, NM_001282903.1:c.2000A>G, NM_001282902.3:c.1994A>G, NM_001282902.2:c.1994A>G, NM_001282902.1:c.1994A>G, NM_001330599.2:c.1982A>G, NM_001330599.1:c.1982A>G, NP_054831.2:p.Lys674Arg, NP_001269832.1:p.Lys667Arg, NP_001269831.1:p.Lys665Arg, NP_001317528.1:p.Lys661Arg

Select item 146774400319.

rs1467744003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:115604637 (GRCh38)
8:116616864 (GRCh37)
Canonical SPDI:: NC_000008.11:115604636:G:T
Gene:: TRPS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115604637G>T, NC_000008.10:g.116616864G>T, NG_012383.3:g.69365C>A, NM_014112.5:c.1332C>A, NM_014112.4:c.1332C>A, NM_014112.3:c.1332C>A, NM_014112.2:c.1332C>A, NM_001282903.3:c.1311C>A, NM_001282903.2:c.1311C>A, NM_001282903.1:c.1311C>A, NM_001282902.3:c.1305C>A, NM_001282902.2:c.1305C>A, NM_001282902.1:c.1305C>A, NM_001330599.2:c.1293C>A, NM_001330599.1:c.1293C>A

Select item 146722142720.

rs1467221427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:115414626 (GRCh38)
8:116426854 (GRCh37)
Canonical SPDI:: NC_000008.11:115414625:T:C
Gene:: TRPS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.115414626T>C, NC_000008.10:g.116426854T>C, NG_012383.3:g.259376A>G, NM_014112.5:c.3282A>G, NM_014112.4:c.3282A>G, NM_014112.3:c.3282A>G, NM_014112.2:c.3282A>G, NM_001282903.3:c.3261A>G, NM_001282903.2:c.3261A>G, NM_001282903.1:c.3261A>G, NM_001282902.3:c.3255A>G, NM_001282902.2:c.3255A>G, NM_001282902.1:c.3255A>G, NM_001330599.2:c.3243A>G, NM_001330599.1:c.3243A>G

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