SNP Links for Protein (Select 768004071) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 621

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Select item 14893497891.

rs1489349789 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGGACGGCAAGTGAGTCCGAGGCC [Show Flanks]
Chromosome:: 19:17577450 (GRCh38)
19:17688260 (GRCh37)
Canonical SPDI:: NC_000019.10:17577450:GAGGCCGTGGACGGCAAGTGAGTCCGAGGCC:GAGGCCGTGGACGGCAAGTGAGTCCGAGGCCGTGGACGGCAAGTGAGTCCGAGGCC
Gene:: COLGALT1 (Varview)
Functional Consequence:: splice_donor_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGCCGTGGACGGCAAGTGAGTCCGAGGCCGTGGACGGCAAGTGAGTCCGAGGCC=0.000071/1 (ALFA)
GAGGCCGTGGACGGCAAGTGAGTCC=0.000009/1 (GnomAD_exomes)
GAGGCCGTGGACGGCAAGTGAGTCC=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.17577457_17577481dup, NC_000019.9:g.17688266_17688290dup

Select item 14893173572.

rs1489317357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:17568683 (GRCh38)
19:17679492 (GRCh37)
Canonical SPDI:: NC_000019.10:17568682:A:G
Gene:: COLGALT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17568683A>G, NC_000019.9:g.17679492A>G, XM_005260080.5:c.550A>G, XM_005260080.4:c.550A>G, XM_005260080.3:c.550A>G, XM_005260080.2:c.550A>G, XM_005260080.1:c.550A>G, NM_024656.4:c.799A>G, NM_024656.3:c.799A>G, NM_024656.2:c.799A>G, XM_011528297.3:c.520A>G, XM_011528297.2:c.520A>G, XM_011528297.1:c.520A>G, XP_005260137.1:p.Ile184Val, NP_078932.2:p.Ile267Val, XP_011526599.1:p.Ile174Val

Select item 14882454073.

rs1488245407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:17559334 (GRCh38)
19:17670143 (GRCh37)
Canonical SPDI:: NC_000019.10:17559333:A:G,NC_000019.10:17559333:A:T
Gene:: COLGALT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.0003/1 (KOREAN)
HGVS:: NC_000019.10:g.17559334A>G, NC_000019.10:g.17559334A>T, NC_000019.9:g.17670143A>G, NC_000019.9:g.17670143A>T, XM_005260080.5:c.35A>G, XM_005260080.5:c.35A>T, XM_005260080.4:c.35A>G, XM_005260080.4:c.35A>T, XM_005260080.3:c.35A>G, XM_005260080.3:c.35A>T, XM_005260080.2:c.35A>G, XM_005260080.2:c.35A>T, XM_005260080.1:c.35A>G, XM_005260080.1:c.35A>T, NM_024656.4:c.284A>G, NM_024656.4:c.284A>T, NM_024656.3:c.284A>G, NM_024656.3:c.284A>T, NM_024656.2:c.284A>G, NM_024656.2:c.284A>T, XM_011528297.3:c.5A>G, XM_011528297.3:c.5A>T, XM_011528297.2:c.5A>G, XM_011528297.2:c.5A>T, XM_011528297.1:c.5A>G, XM_011528297.1:c.5A>T, XP_005260137.1:p.Asp12Gly, XP_005260137.1:p.Asp12Val, NP_078932.2:p.Asp95Gly, NP_078932.2:p.Asp95Val, XP_011526599.1:p.Asp2Gly, XP_011526599.1:p.Asp2Val

Select item 14847490484.

rs1484749048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:17560394 (GRCh38)
19:17671203 (GRCh37)
Canonical SPDI:: NC_000019.10:17560393:T:C
Gene:: COLGALT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17560394T>C, NC_000019.9:g.17671203T>C, XM_005260080.5:c.169T>C, XM_005260080.4:c.169T>C, XM_005260080.3:c.169T>C, XM_005260080.2:c.169T>C, XM_005260080.1:c.169T>C, NM_024656.4:c.418T>C, NM_024656.3:c.418T>C, NM_024656.2:c.418T>C, XM_011528297.3:c.139T>C, XM_011528297.2:c.139T>C, XM_011528297.1:c.139T>C, XP_005260137.1:p.Tyr57His, NP_078932.2:p.Tyr140His, XP_011526599.1:p.Tyr47His

Select item 14836455875.

rs1483645587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:17568534 (GRCh38)
19:17679343 (GRCh37)
Canonical SPDI:: NC_000019.10:17568533:A:G
Gene:: COLGALT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17568534A>G, NC_000019.9:g.17679343A>G, XM_005260080.5:c.401A>G, XM_005260080.4:c.401A>G, XM_005260080.3:c.401A>G, XM_005260080.2:c.401A>G, XM_005260080.1:c.401A>G, NM_024656.4:c.650A>G, NM_024656.3:c.650A>G, NM_024656.2:c.650A>G, XM_011528297.3:c.371A>G, XM_011528297.2:c.371A>G, XM_011528297.1:c.371A>G, XP_005260137.1:p.Tyr134Cys, NP_078932.2:p.Tyr217Cys, XP_011526599.1:p.Tyr124Cys

Select item 14832451566.

rs1483245156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:17577384 (GRCh38)
19:17688193 (GRCh37)
Canonical SPDI:: NC_000019.10:17577383:G:T
Gene:: COLGALT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.17577384G>T, NC_000019.9:g.17688193G>T, XM_005260080.5:c.801G>T, XM_005260080.4:c.801G>T, XM_005260080.3:c.801G>T, XM_005260080.2:c.801G>T, XM_005260080.1:c.801G>T, NM_024656.4:c.1050G>T, NM_024656.3:c.1050G>T, NM_024656.2:c.1050G>T, XM_011528299.4:c.213G>T, XM_011528299.3:c.213G>T, XM_011528299.2:c.213G>T, XM_011528299.1:c.213G>T, XM_011528297.3:c.771G>T, XM_011528297.2:c.771G>T, XM_011528297.1:c.771G>T

Select item 14831710687.

rs1483171068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:17580799 (GRCh38)
19:17691608 (GRCh37)
Canonical SPDI:: NC_000019.10:17580798:T:C
Gene:: COLGALT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17580799T>C, NC_000019.9:g.17691608T>C, XM_005260080.5:c.1246T>C, XM_005260080.4:c.1246T>C, XM_005260080.3:c.1246T>C, XM_005260080.2:c.1246T>C, XM_005260080.1:c.1246T>C, NM_024656.4:c.1495T>C, NM_024656.3:c.1495T>C, NM_024656.2:c.1495T>C, XM_011528299.4:c.658T>C, XM_011528299.3:c.658T>C, XM_011528299.2:c.658T>C, XM_011528299.1:c.658T>C, XM_011528297.3:c.1216T>C, XM_011528297.2:c.1216T>C, XM_011528297.1:c.1216T>C, XP_005260137.1:p.Tyr416His, NP_078932.2:p.Tyr499His, XP_011526601.1:p.Tyr220His, XP_011526599.1:p.Tyr406His

Select item 14814046008.

rs1481404600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:17560349 (GRCh38)
19:17671158 (GRCh37)
Canonical SPDI:: NC_000019.10:17560348:T:C
Gene:: COLGALT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17560349T>C, NC_000019.9:g.17671158T>C, XM_005260080.5:c.124T>C, XM_005260080.4:c.124T>C, XM_005260080.3:c.124T>C, XM_005260080.2:c.124T>C, XM_005260080.1:c.124T>C, NM_024656.4:c.373T>C, NM_024656.3:c.373T>C, NM_024656.2:c.373T>C, XM_011528297.3:c.94T>C, XM_011528297.2:c.94T>C, XM_011528297.1:c.94T>C, XP_005260137.1:p.Ser42Pro, NP_078932.2:p.Ser125Pro, XP_011526599.1:p.Ser32Pro

Select item 14808989449.

rs1480898944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17577269 (GRCh38)
19:17688078 (GRCh37)
Canonical SPDI:: NC_000019.10:17577268:G:A
Gene:: COLGALT1 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000019.10:g.17577269G>A, NC_000019.9:g.17688078G>A, XM_005260080.5:c.775G>A, XM_005260080.4:c.775G>A, XM_005260080.3:c.775G>A, XM_005260080.2:c.775G>A, XM_005260080.1:c.775G>A, NM_024656.4:c.1024G>A, NM_024656.3:c.1024G>A, NM_024656.2:c.1024G>A, XM_011528299.4:c.187G>A, XM_011528299.3:c.187G>A, XM_011528299.2:c.187G>A, XM_011528299.1:c.187G>A, XM_011528297.3:c.745G>A, XM_011528297.2:c.745G>A, XM_011528297.1:c.745G>A, XP_005260137.1:p.Glu259Lys, NP_078932.2:p.Glu342Lys, XP_011526601.1:p.Glu63Lys, XP_011526599.1:p.Glu249Lys

Select item 147852319110.

rs1478523191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:17560428 (GRCh38)
19:17671237 (GRCh37)
Canonical SPDI:: NC_000019.10:17560427:T:G
Gene:: COLGALT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.17560428T>G, NC_000019.9:g.17671237T>G, XM_005260080.5:c.203T>G, XM_005260080.4:c.203T>G, XM_005260080.3:c.203T>G, XM_005260080.2:c.203T>G, XM_005260080.1:c.203T>G, NM_024656.4:c.452T>G, NM_024656.3:c.452T>G, NM_024656.2:c.452T>G, XM_011528297.3:c.173T>G, XM_011528297.2:c.173T>G, XM_011528297.1:c.173T>G, XP_005260137.1:p.Leu68Arg, NP_078932.2:p.Leu151Arg, XP_011526599.1:p.Leu58Arg

Select item 147745287311.

rs1477452873 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:17578082 (GRCh38)
19:17688891 (GRCh37)
Canonical SPDI:: NC_000019.10:17578081:GG:G
Gene:: COLGALT1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17578083del, NC_000019.9:g.17688892del, XM_005260080.5:c.1011del, XM_005260080.4:c.1011del, XM_005260080.3:c.1011del, XM_005260080.2:c.1011del, XM_005260080.1:c.1011del, NM_024656.4:c.1260del, NM_024656.3:c.1260del, NM_024656.2:c.1260del, XM_011528299.4:c.423del, XM_011528299.3:c.423del, XM_011528299.2:c.423del, XM_011528299.1:c.423del, XM_011528297.3:c.981del, XM_011528297.2:c.981del, XM_011528297.1:c.981del, XP_005260137.1:p.Ile336_Trp337insTer, NP_078932.2:p.Ile419_Trp420insTer, XP_011526601.1:p.Ile140_Trp141insTer, XP_011526599.1:p.Ile326_Trp327insTer

Select item 147375976212.

rs1473759762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17572540 (GRCh38)
19:17683349 (GRCh37)
Canonical SPDI:: NC_000019.10:17572539:G:A
Gene:: COLGALT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.17572540G>A, NC_000019.9:g.17683349G>A, XM_005260080.5:c.638G>A, XM_005260080.4:c.638G>A, XM_005260080.3:c.638G>A, XM_005260080.2:c.638G>A, XM_005260080.1:c.638G>A, NM_024656.4:c.887G>A, NM_024656.3:c.887G>A, NM_024656.2:c.887G>A, XM_011528299.4:c.50G>A, XM_011528299.3:c.50G>A, XM_011528299.2:c.50G>A, XM_011528299.1:c.50G>A, XM_011528297.3:c.608G>A, XM_011528297.2:c.608G>A, XM_011528297.1:c.608G>A, XP_005260137.1:p.Arg213His, NP_078932.2:p.Arg296His, XP_011526601.1:p.Arg17His, XP_011526599.1:p.Arg203His

Select item 147317637813.

rs1473176378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17572518 (GRCh38)
19:17683327 (GRCh37)
Canonical SPDI:: NC_000019.10:17572517:G:A
Gene:: COLGALT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17572518G>A, NC_000019.9:g.17683327G>A, XM_005260080.5:c.616G>A, XM_005260080.4:c.616G>A, XM_005260080.3:c.616G>A, XM_005260080.2:c.616G>A, XM_005260080.1:c.616G>A, NM_024656.4:c.865G>A, NM_024656.3:c.865G>A, NM_024656.2:c.865G>A, XM_011528299.4:c.28G>A, XM_011528299.3:c.28G>A, XM_011528299.2:c.28G>A, XM_011528299.1:c.28G>A, XM_011528297.3:c.586G>A, XM_011528297.2:c.586G>A, XM_011528297.1:c.586G>A, XP_005260137.1:p.Gly206Arg, NP_078932.2:p.Gly289Arg, XP_011526601.1:p.Gly10Arg, XP_011526599.1:p.Gly196Arg

Select item 147167616614.

rs1471676166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:17579489 (GRCh38)
19:17690298 (GRCh37)
Canonical SPDI:: NC_000019.10:17579488:A:G
Gene:: COLGALT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.17579489A>G, NC_000019.9:g.17690298A>G, XM_005260080.5:c.1025A>G, XM_005260080.4:c.1025A>G, XM_005260080.3:c.1025A>G, XM_005260080.2:c.1025A>G, XM_005260080.1:c.1025A>G, NM_024656.4:c.1274A>G, NM_024656.3:c.1274A>G, NM_024656.2:c.1274A>G, XM_011528299.4:c.437A>G, XM_011528299.3:c.437A>G, XM_011528299.2:c.437A>G, XM_011528299.1:c.437A>G, XM_011528297.3:c.995A>G, XM_011528297.2:c.995A>G, XM_011528297.1:c.995A>G, XP_005260137.1:p.Asp342Gly, NP_078932.2:p.Asp425Gly, XP_011526601.1:p.Asp146Gly, XP_011526599.1:p.Asp332Gly

Select item 147111574015.

rs1471115740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:17568588 (GRCh38)
19:17679397 (GRCh37)
Canonical SPDI:: NC_000019.10:17568587:A:G
Gene:: COLGALT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17568588A>G, NC_000019.9:g.17679397A>G, XM_005260080.5:c.455A>G, XM_005260080.4:c.455A>G, XM_005260080.3:c.455A>G, XM_005260080.2:c.455A>G, XM_005260080.1:c.455A>G, NM_024656.4:c.704A>G, NM_024656.3:c.704A>G, NM_024656.2:c.704A>G, XM_011528297.3:c.425A>G, XM_011528297.2:c.425A>G, XM_011528297.1:c.425A>G, XP_005260137.1:p.His152Arg, NP_078932.2:p.His235Arg, XP_011526599.1:p.His142Arg

Select item 146990450416.

rs1469904504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17581415 (GRCh38)
19:17692224 (GRCh37)
Canonical SPDI:: NC_000019.10:17581414:C:T
Gene:: COLGALT1 (Varview)
Functional Consequence:: 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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17581415C>T, NC_000019.9:g.17692224C>T, XM_005260080.5:c.1591C>T, XM_005260080.4:c.1591C>T, XM_005260080.3:c.1591C>T, XM_005260080.2:c.1591C>T, XM_005260080.1:c.1591C>T, NM_024656.4:c.1840C>T, NM_024656.3:c.1840C>T, NM_024656.2:c.1840C>T, XM_011528299.4:c.1003C>T, XM_011528299.3:c.1003C>T, XM_011528299.2:c.1003C>T, XM_011528299.1:c.1003C>T, XM_011528297.3:c.1561C>T, XM_011528297.2:c.1561C>T, XM_011528297.1:c.1561C>T

Select item 146890393717.

rs1468903937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17572549 (GRCh38)
19:17683358 (GRCh37)
Canonical SPDI:: NC_000019.10:17572548:G:A
Gene:: COLGALT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.17572549G>A, NC_000019.9:g.17683358G>A, XM_005260080.5:c.647G>A, XM_005260080.4:c.647G>A, XM_005260080.3:c.647G>A, XM_005260080.2:c.647G>A, XM_005260080.1:c.647G>A, NM_024656.4:c.896G>A, NM_024656.3:c.896G>A, NM_024656.2:c.896G>A, XM_011528299.4:c.59G>A, XM_011528299.3:c.59G>A, XM_011528299.2:c.59G>A, XM_011528299.1:c.59G>A, XM_011528297.3:c.617G>A, XM_011528297.2:c.617G>A, XM_011528297.1:c.617G>A, XP_005260137.1:p.Ser216Asn, NP_078932.2:p.Ser299Asn, XP_011526601.1:p.Ser20Asn, XP_011526599.1:p.Ser206Asn

Select item 146787686418.

rs1467876864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17579584 (GRCh38)
19:17690393 (GRCh37)
Canonical SPDI:: NC_000019.10:17579583:C:T
Gene:: COLGALT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000009/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.17579584C>T, NC_000019.9:g.17690393C>T, XM_005260080.5:c.1120C>T, XM_005260080.4:c.1120C>T, XM_005260080.3:c.1120C>T, XM_005260080.2:c.1120C>T, XM_005260080.1:c.1120C>T, NM_024656.4:c.1369C>T, NM_024656.3:c.1369C>T, NM_024656.2:c.1369C>T, XM_011528299.4:c.532C>T, XM_011528299.3:c.532C>T, XM_011528299.2:c.532C>T, XM_011528299.1:c.532C>T, XM_011528297.3:c.1090C>T, XM_011528297.2:c.1090C>T, XM_011528297.1:c.1090C>T, XP_005260137.1:p.Arg374Trp, NP_078932.2:p.Arg457Trp, XP_011526601.1:p.Arg178Trp, XP_011526599.1:p.Arg364Trp

Select item 146329964919.

rs1463299649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:17560378 (GRCh38)
19:17671187 (GRCh37)
Canonical SPDI:: NC_000019.10:17560377:C:G
Gene:: COLGALT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17560378C>G, NC_000019.9:g.17671187C>G, XM_005260080.5:c.153C>G, XM_005260080.4:c.153C>G, XM_005260080.3:c.153C>G, XM_005260080.2:c.153C>G, XM_005260080.1:c.153C>G, NM_024656.4:c.402C>G, NM_024656.3:c.402C>G, NM_024656.2:c.402C>G, XM_011528297.3:c.123C>G, XM_011528297.2:c.123C>G, XM_011528297.1:c.123C>G, XP_005260137.1:p.His51Gln, NP_078932.2:p.His134Gln, XP_011526599.1:p.His41Gln

Select item 146324572420.

rs1463245724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17577398 (GRCh38)
19:17688207 (GRCh37)
Canonical SPDI:: NC_000019.10:17577397:G:A
Gene:: COLGALT1 (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_000019.10:g.17577398G>A, NC_000019.9:g.17688207G>A, XM_005260080.5:c.815G>A, XM_005260080.4:c.815G>A, XM_005260080.3:c.815G>A, XM_005260080.2:c.815G>A, XM_005260080.1:c.815G>A, NM_024656.4:c.1064G>A, NM_024656.3:c.1064G>A, NM_024656.2:c.1064G>A, XM_011528299.4:c.227G>A, XM_011528299.3:c.227G>A, XM_011528299.2:c.227G>A, XM_011528299.1:c.227G>A, XM_011528297.3:c.785G>A, XM_011528297.2:c.785G>A, XM_011528297.1:c.785G>A, XP_005260137.1:p.Arg272Gln, NP_078932.2:p.Arg355Gln, XP_011526601.1:p.Arg76Gln, XP_011526599.1:p.Arg262Gln

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