SNP Links for Protein (Select 768006376) - SNP

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Links from Protein

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Select item 14837887541.

rs1483788754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46838471 (GRCh38)
19:47341728 (GRCh37)
Canonical SPDI:: NC_000019.10:46838470:C:T
Gene:: AP2S1 (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_000019.10:g.46838471C>T, NC_000019.9:g.47341728C>T, NG_033136.1:g.17476G>A, NM_004069.6:c.405G>A, NM_004069.5:c.405G>A, NM_004069.4:c.405G>A, NM_004069.3:c.405G>A, NM_021575.5:c.291G>A, NM_021575.4:c.291G>A, NM_021575.3:c.291G>A, NM_021575.2:c.291G>A, NM_001301081.3:c.411G>A, NM_001301081.2:c.411G>A, NM_001301081.1:c.411G>A, NM_001301076.3:c.453G>A, NM_001301076.2:c.453G>A, NM_001301076.1:c.453G>A, NM_001301078.3:c.447G>A, NM_001301078.2:c.447G>A, NM_001301078.1:c.447G>A, XM_011526424.4:c.453G>A, XM_011526424.3:c.453G>A, XM_011526424.2:c.453G>A, XM_011526424.1:c.453G>A, XM_011526423.3:c.495G>A, XM_011526423.2:c.495G>A, XM_011526423.1:c.495G>A

Select item 14761202872.

rs1476120287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46846055 (GRCh38)
19:47349312 (GRCh37)
Canonical SPDI:: NC_000019.10:46846054:G:A
Gene:: AP2S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46846055G>A, NC_000019.9:g.47349312G>A, NG_033136.1:g.9892C>T, NM_004069.6:c.91C>T, NM_004069.5:c.91C>T, NM_004069.4:c.91C>T, NM_004069.3:c.91C>T, NM_021575.5:c.91C>T, NM_021575.4:c.91C>T, NM_021575.3:c.91C>T, NM_021575.2:c.91C>T, NM_001301081.3:c.97C>T, NM_001301081.2:c.97C>T, NM_001301081.1:c.97C>T, NM_001301076.3:c.139C>T, NM_001301076.2:c.139C>T, NM_001301076.1:c.139C>T, NM_001301078.3:c.91C>T, NM_001301078.2:c.91C>T, NM_001301078.1:c.91C>T, XM_011526424.4:c.97C>T, XM_011526424.3:c.97C>T, XM_011526424.2:c.97C>T, XM_011526424.1:c.97C>T, XM_011526423.3:c.139C>T, XM_011526423.2:c.139C>T, XM_011526423.1:c.139C>T

Select item 14719368753.

rs1471936875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46839614 (GRCh38)
19:47342871 (GRCh37)
Canonical SPDI:: NC_000019.10:46839613:C:T
Gene:: AP2S1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46839614C>T, NC_000019.9:g.47342871C>T, NG_033136.1:g.16333G>A, NM_001301078.3:c.160G>A, NM_001301078.2:c.160G>A, NM_001301078.1:c.160G>A, XM_011526424.4:c.166G>A, XM_011526424.3:c.166G>A, XM_011526424.2:c.166G>A, XM_011526424.1:c.166G>A, XM_011526423.3:c.208G>A, XM_011526423.2:c.208G>A, XM_011526423.1:c.208G>A, NP_001288007.1:p.Ala54Thr, XP_011524726.1:p.Ala56Thr, XP_011524725.1:p.Ala70Thr

Select item 14562286464.

rs1456228646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46839466 (GRCh38)
19:47342723 (GRCh37)
Canonical SPDI:: NC_000019.10:46839465:T:C
Gene:: AP2S1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.46839466T>C, NC_000019.9:g.47342723T>C, NG_033136.1:g.16481A>G, NM_004069.6:c.266A>G, NM_004069.5:c.266A>G, NM_004069.4:c.266A>G, NM_004069.3:c.266A>G, NM_001301081.3:c.272A>G, NM_001301081.2:c.272A>G, NM_001301081.1:c.272A>G, NM_001301076.3:c.314A>G, NM_001301076.2:c.314A>G, NM_001301076.1:c.314A>G, NM_001301078.3:c.308A>G, NM_001301078.2:c.308A>G, NM_001301078.1:c.308A>G, XM_011526424.4:c.314A>G, XM_011526424.3:c.314A>G, XM_011526424.2:c.314A>G, XM_011526424.1:c.314A>G, XM_011526423.3:c.356A>G, XM_011526423.2:c.356A>G, XM_011526423.1:c.356A>G, NP_004060.2:p.Glu89Gly, NP_001288010.1:p.Glu91Gly, NP_001288005.1:p.Glu105Gly, NP_001288007.1:p.Glu103Gly, XP_011524726.1:p.Glu105Gly, XP_011524725.1:p.Glu119Gly

Select item 14526809705.

rs1452680970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46839483 (GRCh38)
19:47342740 (GRCh37)
Canonical SPDI:: NC_000019.10:46839482:G:A
Gene:: AP2S1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.46839483G>A, NC_000019.9:g.47342740G>A, NG_033136.1:g.16464C>T, NM_004069.6:c.249C>T, NM_004069.5:c.249C>T, NM_004069.4:c.249C>T, NM_004069.3:c.249C>T, NM_001301081.3:c.255C>T, NM_001301081.2:c.255C>T, NM_001301081.1:c.255C>T, NM_001301076.3:c.297C>T, NM_001301076.2:c.297C>T, NM_001301076.1:c.297C>T, NM_001301078.3:c.291C>T, NM_001301078.2:c.291C>T, NM_001301078.1:c.291C>T, XM_011526424.4:c.297C>T, XM_011526424.3:c.297C>T, XM_011526424.2:c.297C>T, XM_011526424.1:c.297C>T, XM_011526423.3:c.339C>T, XM_011526423.2:c.339C>T, XM_011526423.1:c.339C>T

Select item 14431636756.

rs1443163675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46838448 (GRCh38)
19:47341705 (GRCh37)
Canonical SPDI:: NC_000019.10:46838447:C:T
Gene:: AP2S1 (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.46838448C>T, NC_000019.9:g.47341705C>T, NG_033136.1:g.17499G>A, NM_004069.6:c.428G>A, NM_004069.5:c.428G>A, NM_004069.4:c.428G>A, NM_004069.3:c.428G>A, NM_021575.5:c.314G>A, NM_021575.4:c.314G>A, NM_021575.3:c.314G>A, NM_021575.2:c.314G>A, NM_001301081.3:c.434G>A, NM_001301081.2:c.434G>A, NM_001301081.1:c.434G>A, NM_001301076.3:c.476G>A, NM_001301076.2:c.476G>A, NM_001301076.1:c.476G>A, NM_001301078.3:c.470G>A, NM_001301078.2:c.470G>A, NM_001301078.1:c.470G>A, XM_011526424.4:c.476G>A, XM_011526424.3:c.476G>A, XM_011526424.2:c.476G>A, XM_011526424.1:c.476G>A, XM_011526423.3:c.518G>A, XM_011526423.2:c.518G>A, XM_011526423.1:c.518G>A

Select item 14275588257.

rs1427558825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:46846073 (GRCh38)
19:47349330 (GRCh37)
Canonical SPDI:: NC_000019.10:46846072:C:A
Gene:: AP2S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46846073C>A, NC_000019.9:g.47349330C>A, NG_033136.1:g.9874G>T, NM_004069.6:c.73G>T, NM_004069.5:c.73G>T, NM_004069.4:c.73G>T, NM_004069.3:c.73G>T, NM_021575.5:c.73G>T, NM_021575.4:c.73G>T, NM_021575.3:c.73G>T, NM_021575.2:c.73G>T, NM_001301081.3:c.79G>T, NM_001301081.2:c.79G>T, NM_001301081.1:c.79G>T, NM_001301076.3:c.121G>T, NM_001301076.2:c.121G>T, NM_001301076.1:c.121G>T, NM_001301078.3:c.73G>T, NM_001301078.2:c.73G>T, NM_001301078.1:c.73G>T, XM_011526424.4:c.79G>T, XM_011526424.3:c.79G>T, XM_011526424.2:c.79G>T, XM_011526424.1:c.79G>T, XM_011526423.3:c.121G>T, XM_011526423.2:c.121G>T, XM_011526423.1:c.121G>T, NP_004060.2:p.Asp25Tyr, NP_067586.1:p.Asp25Tyr, NP_001288010.1:p.Asp27Tyr, NP_001288005.1:p.Asp41Tyr, NP_001288007.1:p.Asp25Tyr, XP_011524726.1:p.Asp27Tyr, XP_011524725.1:p.Asp41Tyr

Select item 14098995658.

rs1409899565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46850177 (GRCh38)
19:47353434 (GRCh37)
Canonical SPDI:: NC_000019.10:46850176:A:G
Gene:: AP2S1 (Varview)
Functional Consequence:: intron_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.46850177A>G, NC_000019.9:g.47353434A>G, NG_033136.1:g.5770T>C, NM_001301076.3:c.8T>C, NM_001301076.2:c.8T>C, NM_001301076.1:c.8T>C, XM_011526423.3:c.8T>C, XM_011526423.2:c.8T>C, XM_011526423.1:c.8T>C, NP_001288005.1:p.Leu3Pro, XP_011524725.1:p.Leu3Pro

Select item 14028183159.

rs1402818315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:46846077 (GRCh38)
19:47349334 (GRCh37)
Canonical SPDI:: NC_000019.10:46846076:A:C
Gene:: AP2S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46846077A>C, NC_000019.9:g.47349334A>C, NG_033136.1:g.9870T>G, NM_004069.6:c.69T>G, NM_004069.5:c.69T>G, NM_004069.4:c.69T>G, NM_004069.3:c.69T>G, NM_021575.5:c.69T>G, NM_021575.4:c.69T>G, NM_021575.3:c.69T>G, NM_021575.2:c.69T>G, NM_001301081.3:c.75T>G, NM_001301081.2:c.75T>G, NM_001301081.1:c.75T>G, NM_001301076.3:c.117T>G, NM_001301076.2:c.117T>G, NM_001301076.1:c.117T>G, NM_001301078.3:c.69T>G, NM_001301078.2:c.69T>G, NM_001301078.1:c.69T>G, XM_011526424.4:c.75T>G, XM_011526424.3:c.75T>G, XM_011526424.2:c.75T>G, XM_011526424.1:c.75T>G, XM_011526423.3:c.117T>G, XM_011526423.2:c.117T>G, XM_011526423.1:c.117T>G, NP_004060.2:p.Phe23Leu, NP_067586.1:p.Phe23Leu, NP_001288010.1:p.Phe25Leu, NP_001288005.1:p.Phe39Leu, NP_001288007.1:p.Phe23Leu, XP_011524726.1:p.Phe25Leu, XP_011524725.1:p.Phe39Leu

Select item 140199573910.

rs1401995739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46839549 (GRCh38)
19:47342806 (GRCh37)
Canonical SPDI:: NC_000019.10:46839548:G:A
Gene:: AP2S1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.46839549G>A, NC_000019.9:g.47342806G>A, NG_033136.1:g.16398C>T, NM_004069.6:c.183C>T, NM_004069.5:c.183C>T, NM_004069.4:c.183C>T, NM_004069.3:c.183C>T, NM_001301081.3:c.189C>T, NM_001301081.2:c.189C>T, NM_001301081.1:c.189C>T, NM_001301076.3:c.231C>T, NM_001301076.2:c.231C>T, NM_001301076.1:c.231C>T, NM_001301078.3:c.225C>T, NM_001301078.2:c.225C>T, NM_001301078.1:c.225C>T, XM_011526424.4:c.231C>T, XM_011526424.3:c.231C>T, XM_011526424.2:c.231C>T, XM_011526424.1:c.231C>T, XM_011526423.3:c.273C>T, XM_011526423.2:c.273C>T, XM_011526423.1:c.273C>T

Select item 140157635411.

rs1401576354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46838453 (GRCh38)
19:47341710 (GRCh37)
Canonical SPDI:: NC_000019.10:46838452:C:T
Gene:: AP2S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46838453C>T, NC_000019.9:g.47341710C>T, NG_033136.1:g.17494G>A, NM_004069.6:c.423G>A, NM_004069.5:c.423G>A, NM_004069.4:c.423G>A, NM_004069.3:c.423G>A, NM_021575.5:c.309G>A, NM_021575.4:c.309G>A, NM_021575.3:c.309G>A, NM_021575.2:c.309G>A, NM_001301081.3:c.429G>A, NM_001301081.2:c.429G>A, NM_001301081.1:c.429G>A, NM_001301076.3:c.471G>A, NM_001301076.2:c.471G>A, NM_001301076.1:c.471G>A, NM_001301078.3:c.465G>A, NM_001301078.2:c.465G>A, NM_001301078.1:c.465G>A, XM_011526424.4:c.471G>A, XM_011526424.3:c.471G>A, XM_011526424.2:c.471G>A, XM_011526424.1:c.471G>A, XM_011526423.3:c.513G>A, XM_011526423.2:c.513G>A, XM_011526423.1:c.513G>A

Select item 137949964712.

rs1379499647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46850174 (GRCh38)
19:47353431 (GRCh37)
Canonical SPDI:: NC_000019.10:46850173:T:C
Gene:: AP2S1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.46850174T>C, NC_000019.9:g.47353431T>C, NG_033136.1:g.5773A>G, NM_001301076.3:c.11A>G, NM_001301076.2:c.11A>G, NM_001301076.1:c.11A>G, XM_011526423.3:c.11A>G, XM_011526423.2:c.11A>G, XM_011526423.1:c.11A>G, NP_001288005.1:p.Lys4Arg, XP_011524725.1:p.Lys4Arg

Select item 137759846413.

rs1377598464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46838746 (GRCh38)
19:47342003 (GRCh37)
Canonical SPDI:: NC_000019.10:46838745:G:A
Gene:: AP2S1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46838746G>A, NC_000019.9:g.47342003G>A, NG_033136.1:g.17201C>T, NM_004069.6:c.321C>T, NM_004069.5:c.321C>T, NM_004069.4:c.321C>T, NM_004069.3:c.321C>T, NM_021575.5:c.207C>T, NM_021575.4:c.207C>T, NM_021575.3:c.207C>T, NM_021575.2:c.207C>T, NM_001301081.3:c.327C>T, NM_001301081.2:c.327C>T, NM_001301081.1:c.327C>T, NM_001301076.3:c.369C>T, NM_001301076.2:c.369C>T, NM_001301076.1:c.369C>T, NM_001301078.3:c.363C>T, NM_001301078.2:c.363C>T, NM_001301078.1:c.363C>T, XM_011526424.4:c.369C>T, XM_011526424.3:c.369C>T, XM_011526424.2:c.369C>T, XM_011526424.1:c.369C>T, XM_011526423.3:c.411C>T, XM_011526423.2:c.411C>T, XM_011526423.1:c.411C>T

Select item 137052677514.

rs1370526775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46838473 (GRCh38)
19:47341730 (GRCh37)
Canonical SPDI:: NC_000019.10:46838472:G:A
Gene:: AP2S1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46838473G>A, NC_000019.9:g.47341730G>A, NG_033136.1:g.17474C>T, NM_004069.6:c.403C>T, NM_004069.5:c.403C>T, NM_004069.4:c.403C>T, NM_004069.3:c.403C>T, NM_021575.5:c.289C>T, NM_021575.4:c.289C>T, NM_021575.3:c.289C>T, NM_021575.2:c.289C>T, NM_001301081.3:c.409C>T, NM_001301081.2:c.409C>T, NM_001301081.1:c.409C>T, NM_001301076.3:c.451C>T, NM_001301076.2:c.451C>T, NM_001301076.1:c.451C>T, NM_001301078.3:c.445C>T, NM_001301078.2:c.445C>T, NM_001301078.1:c.445C>T, XM_011526424.4:c.451C>T, XM_011526424.3:c.451C>T, XM_011526424.2:c.451C>T, XM_011526424.1:c.451C>T, XM_011526423.3:c.493C>T, XM_011526423.2:c.493C>T, XM_011526423.1:c.493C>T

Select item 136919995315.

rs1369199953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46846097 (GRCh38)
19:47349354 (GRCh37)
Canonical SPDI:: NC_000019.10:46846096:C:T
Gene:: AP2S1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46846097C>T, NC_000019.9:g.47349354C>T, NG_033136.1:g.9850G>A, NM_004069.6:c.49G>A, NM_004069.5:c.49G>A, NM_004069.4:c.49G>A, NM_004069.3:c.49G>A, NM_021575.5:c.49G>A, NM_021575.4:c.49G>A, NM_021575.3:c.49G>A, NM_021575.2:c.49G>A, NM_001301081.3:c.55G>A, NM_001301081.2:c.55G>A, NM_001301081.1:c.55G>A, NM_001301076.3:c.97G>A, NM_001301076.2:c.97G>A, NM_001301076.1:c.97G>A, NM_001301078.3:c.49G>A, NM_001301078.2:c.49G>A, NM_001301078.1:c.49G>A, XM_011526424.4:c.55G>A, XM_011526424.3:c.55G>A, XM_011526424.2:c.55G>A, XM_011526424.1:c.55G>A, XM_011526423.3:c.97G>A, XM_011526423.2:c.97G>A, XM_011526423.1:c.97G>A, NP_004060.2:p.Ala17Thr, NP_067586.1:p.Ala17Thr, NP_001288010.1:p.Ala19Thr, NP_001288005.1:p.Ala33Thr, NP_001288007.1:p.Ala17Thr, XP_011524726.1:p.Ala19Thr, XP_011524725.1:p.Ala33Thr

Select item 136517212116.

rs1365172121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:46839512 (GRCh38)
19:47342769 (GRCh37)
Canonical SPDI:: NC_000019.10:46839511:T:G
Gene:: AP2S1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46839512T>G, NC_000019.9:g.47342769T>G, NG_033136.1:g.16435A>C, NM_004069.6:c.220A>C, NM_004069.5:c.220A>C, NM_004069.4:c.220A>C, NM_004069.3:c.220A>C, NM_001301081.3:c.226A>C, NM_001301081.2:c.226A>C, NM_001301081.1:c.226A>C, NM_001301076.3:c.268A>C, NM_001301076.2:c.268A>C, NM_001301076.1:c.268A>C, NM_001301078.3:c.262A>C, NM_001301078.2:c.262A>C, NM_001301078.1:c.262A>C, XM_011526424.4:c.268A>C, XM_011526424.3:c.268A>C, XM_011526424.2:c.268A>C, XM_011526424.1:c.268A>C, XM_011526423.3:c.310A>C, XM_011526423.2:c.310A>C, XM_011526423.1:c.310A>C, NP_004060.2:p.Asn74His, NP_001288010.1:p.Asn76His, NP_001288005.1:p.Asn90His, NP_001288007.1:p.Asn88His, XP_011524726.1:p.Asn90His, XP_011524725.1:p.Asn104His

Select item 135805863417.

rs1358058634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46850165 (GRCh38)
19:47353422 (GRCh37)
Canonical SPDI:: NC_000019.10:46850164:C:T
Gene:: AP2S1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46850165C>T, NC_000019.9:g.47353422C>T, NG_033136.1:g.5782G>A, NM_001301076.3:c.20G>A, NM_001301076.2:c.20G>A, NM_001301076.1:c.20G>A, XM_011526423.3:c.20G>A, XM_011526423.2:c.20G>A, XM_011526423.1:c.20G>A, NP_001288005.1:p.Gly7Glu, XP_011524725.1:p.Gly7Glu

Select item 134664345318.

rs1346643453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46850151 (GRCh38)
19:47353408 (GRCh37)
Canonical SPDI:: NC_000019.10:46850150:T:C
Gene:: AP2S1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.00003/8 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.46850151T>C, NC_000019.9:g.47353408T>C, NG_033136.1:g.5796A>G, NM_001301076.3:c.34A>G, NM_001301076.2:c.34A>G, NM_001301076.1:c.34A>G, XM_011526423.3:c.34A>G, XM_011526423.2:c.34A>G, XM_011526423.1:c.34A>G, NP_001288005.1:p.Arg12Gly, XP_011524725.1:p.Arg12Gly

Select item 134308892319.

rs1343088923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:46839545 (GRCh38)
19:47342802 (GRCh37)
Canonical SPDI:: NC_000019.10:46839544:C:A
Gene:: AP2S1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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.46839545C>A, NC_000019.9:g.47342802C>A, NG_033136.1:g.16402G>T, NM_004069.6:c.187G>T, NM_004069.5:c.187G>T, NM_004069.4:c.187G>T, NM_004069.3:c.187G>T, NM_001301081.3:c.193G>T, NM_001301081.2:c.193G>T, NM_001301081.1:c.193G>T, NM_001301076.3:c.235G>T, NM_001301076.2:c.235G>T, NM_001301076.1:c.235G>T, NM_001301078.3:c.229G>T, NM_001301078.2:c.229G>T, NM_001301078.1:c.229G>T, XM_011526424.4:c.235G>T, XM_011526424.3:c.235G>T, XM_011526424.2:c.235G>T, XM_011526424.1:c.235G>T, XM_011526423.3:c.277G>T, XM_011526423.2:c.277G>T, XM_011526423.1:c.277G>T, NP_004060.2:p.Ala63Ser, NP_001288010.1:p.Ala65Ser, NP_001288005.1:p.Ala79Ser, NP_001288007.1:p.Ala77Ser, XP_011524726.1:p.Ala79Ser, XP_011524725.1:p.Ala93Ser

Select item 134024619620.

rs1340246196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:46839584 (GRCh38)
19:47342841 (GRCh37)
Canonical SPDI:: NC_000019.10:46839583:G:C
Gene:: AP2S1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46839584G>C, NC_000019.9:g.47342841G>C, NG_033136.1:g.16363C>G, NM_001301078.3:c.190C>G, NM_001301078.2:c.190C>G, NM_001301078.1:c.190C>G, XM_011526424.4:c.196C>G, XM_011526424.3:c.196C>G, XM_011526424.2:c.196C>G, XM_011526424.1:c.196C>G, XM_011526423.3:c.238C>G, XM_011526423.2:c.238C>G, XM_011526423.1:c.238C>G, NP_001288007.1:p.Leu64Val, XP_011524726.1:p.Leu66Val, XP_011524725.1:p.Leu80Val

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