SNP Links for Protein (Select 1060099333) - SNP

Links from Protein

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Select item 14864958551.

rs1486495855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27134392 (GRCh38)
2:27357260 (GRCh37)
Canonical SPDI:: NC_000002.12:27134391:G:A
Gene:: PREB (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.27134392G>A, NC_000002.11:g.27357260G>A, NM_013388.6:c.30C>T, NM_013388.5:c.30C>T, NM_013388.4:c.30C>T, XR_939649.4:n.245C>T, XR_939649.3:n.251C>T, XR_939649.2:n.264C>T, XR_939649.1:n.264C>T, NR_138479.2:n.245C>T, NR_138479.1:n.284C>T, NM_001330484.2:c.-120C>T, NM_001330484.1:c.-120C>T, NM_001330486.2:c.30C>T, NM_001330486.1:c.30C>T, NM_001330485.2:c.30C>T, NM_001330485.1:c.30C>T, NM_001330487.2:c.30C>T, NM_001330487.1:c.30C>T

Select item 14799736632.

rs1479973663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27132343 (GRCh38)
2:27355211 (GRCh37)
Canonical SPDI:: NC_000002.12:27132342:G:C
Gene:: PREB (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27132343G>C, NC_000002.11:g.27355211G>C, NM_013388.6:c.813C>G, NM_013388.5:c.813C>G, NM_013388.4:c.813C>G, XR_939649.4:n.1028C>G, XR_939649.3:n.1034C>G, XR_939649.2:n.1047C>G, XR_939649.1:n.1047C>G, NR_138479.2:n.1028C>G, NR_138479.1:n.1067C>G, NM_001330484.2:c.597C>G, NM_001330484.1:c.597C>G, NM_001330486.2:c.813C>G, NM_001330486.1:c.813C>G, NP_037520.1:p.His271Gln, NP_001317413.1:p.His199Gln, NP_001317415.1:p.His271Gln

Select item 14795945443.

rs1479594544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27131472 (GRCh38)
2:27354340 (GRCh37)
Canonical SPDI:: NC_000002.12:27131471:A:G
Gene:: PREB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27131472A>G, NC_000002.11:g.27354340A>G, NM_013388.6:c.1196T>C, NM_013388.5:c.1196T>C, NM_013388.4:c.1196T>C, XR_939649.4:n.1277T>C, XR_939649.3:n.1283T>C, XR_939649.2:n.1296T>C, XR_939649.1:n.1296T>C, NR_138479.2:n.1437T>C, NR_138479.1:n.1476T>C, NM_001330484.2:c.980T>C, NM_001330484.1:c.980T>C, NM_001330486.2:c.1036T>C, NM_001330486.1:c.1036T>C, NM_001330485.2:c.1022T>C, NM_001330485.1:c.1022T>C, NM_001330487.2:c.862T>C, NM_001330487.1:c.862T>C, NP_037520.1:p.Val399Ala, NP_001317413.1:p.Val327Ala, NP_001317415.1:p.Ser346Pro, NP_001317414.1:p.Val341Ala, NP_001317416.1:p.Ser288Pro

Select item 14781033304.

rs1478103330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:27132233 (GRCh38)
2:27355101 (GRCh37)
Canonical SPDI:: NC_000002.12:27132232:A:T
Gene:: PREB (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27132233A>T, NC_000002.11:g.27355101A>T, NM_013388.6:c.923T>A, NM_013388.5:c.923T>A, NM_013388.4:c.923T>A, XR_939649.4:n.1138T>A, XR_939649.3:n.1144T>A, XR_939649.2:n.1157T>A, XR_939649.1:n.1157T>A, NR_138479.2:n.1138T>A, NR_138479.1:n.1177T>A, NM_001330484.2:c.707T>A, NM_001330484.1:c.707T>A, NM_001330486.2:c.923T>A, NM_001330486.1:c.923T>A, NP_037520.1:p.Val308Asp, NP_001317413.1:p.Val236Asp, NP_001317415.1:p.Val308Asp

Select item 14770828545.

rs1477082854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27133331 (GRCh38)
2:27356199 (GRCh37)
Canonical SPDI:: NC_000002.12:27133330:T:C
Gene:: PREB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27133331T>C, NC_000002.11:g.27356199T>C, NM_013388.6:c.332A>G, NM_013388.5:c.332A>G, NM_013388.4:c.332A>G, XR_939649.4:n.547A>G, XR_939649.3:n.553A>G, XR_939649.2:n.566A>G, XR_939649.1:n.566A>G, NR_138479.2:n.547A>G, NR_138479.1:n.586A>G, NM_001330484.2:c.116A>G, NM_001330484.1:c.116A>G, NM_001330486.2:c.332A>G, NM_001330486.1:c.332A>G, NM_001330485.2:c.332A>G, NM_001330485.1:c.332A>G, NM_001330487.2:c.332A>G, NM_001330487.1:c.332A>G, NP_037520.1:p.Lys111Arg, NP_001317413.1:p.Lys39Arg, NP_001317415.1:p.Lys111Arg, NP_001317414.1:p.Lys111Arg, NP_001317416.1:p.Lys111Arg

Select item 14767407196.

rs1476740719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27133159 (GRCh38)
2:27356027 (GRCh37)
Canonical SPDI:: NC_000002.12:27133158:C:G
Gene:: PREB (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27133159C>G, NC_000002.11:g.27356027C>G, NM_013388.6:c.504G>C, NM_013388.5:c.504G>C, NM_013388.4:c.504G>C, XR_939649.4:n.719G>C, XR_939649.3:n.725G>C, XR_939649.2:n.738G>C, XR_939649.1:n.738G>C, NR_138479.2:n.719G>C, NR_138479.1:n.758G>C, NM_001330484.2:c.288G>C, NM_001330484.1:c.288G>C, NM_001330486.2:c.504G>C, NM_001330486.1:c.504G>C, NM_001330485.2:c.504G>C, NM_001330485.1:c.504G>C, NM_001330487.2:c.504G>C, NM_001330487.1:c.504G>C

Select item 14726069807.

rs1472606980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27134330 (GRCh38)
2:27357198 (GRCh37)
Canonical SPDI:: NC_000002.12:27134329:G:T
Gene:: PREB (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27134330G>T, NC_000002.11:g.27357198G>T, NM_013388.6:c.92C>A, NM_013388.5:c.92C>A, NM_013388.4:c.92C>A, XR_939649.4:n.307C>A, XR_939649.3:n.313C>A, XR_939649.2:n.326C>A, XR_939649.1:n.326C>A, NR_138479.2:n.307C>A, NR_138479.1:n.346C>A, NM_001330484.2:c.-58C>A, NM_001330484.1:c.-58C>A, NM_001330486.2:c.92C>A, NM_001330486.1:c.92C>A, NM_001330485.2:c.92C>A, NM_001330485.1:c.92C>A, NM_001330487.2:c.92C>A, NM_001330487.1:c.92C>A, NP_037520.1:p.Ala31Glu, NP_001317415.1:p.Ala31Glu, NP_001317414.1:p.Ala31Glu, NP_001317416.1:p.Ala31Glu

Select item 14701782708.

rs1470178270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27131483 (GRCh38)
2:27354351 (GRCh37)
Canonical SPDI:: NC_000002.12:27131482:G:A
Gene:: PREB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27131483G>A, NC_000002.11:g.27354351G>A, NM_013388.6:c.1185C>T, NM_013388.5:c.1185C>T, NM_013388.4:c.1185C>T, XR_939649.4:n.1266C>T, XR_939649.3:n.1272C>T, XR_939649.2:n.1285C>T, XR_939649.1:n.1285C>T, NR_138479.2:n.1426C>T, NR_138479.1:n.1465C>T, NM_001330484.2:c.969C>T, NM_001330484.1:c.969C>T, NM_001330486.2:c.1025C>T, NM_001330486.1:c.1025C>T, NM_001330485.2:c.1011C>T, NM_001330485.1:c.1011C>T, NM_001330487.2:c.851C>T, NM_001330487.1:c.851C>T, NP_001317415.1:p.Ser342Phe, NP_001317416.1:p.Ser284Phe

Select item 14691579599.

rs1469157959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27132285 (GRCh38)
2:27355153 (GRCh37)
Canonical SPDI:: NC_000002.12:27132284:A:G
Gene:: PREB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27132285A>G, NC_000002.11:g.27355153A>G, NM_013388.6:c.871T>C, NM_013388.5:c.871T>C, NM_013388.4:c.871T>C, XR_939649.4:n.1086T>C, XR_939649.3:n.1092T>C, XR_939649.2:n.1105T>C, XR_939649.1:n.1105T>C, NR_138479.2:n.1086T>C, NR_138479.1:n.1125T>C, NM_001330484.2:c.655T>C, NM_001330484.1:c.655T>C, NM_001330486.2:c.871T>C, NM_001330486.1:c.871T>C

Select item 146770665310.

rs1467706653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27133642 (GRCh38)
2:27356510 (GRCh37)
Canonical SPDI:: NC_000002.12:27133641:G:A,NC_000002.12:27133641:G:C
Gene:: PREB (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27133642G>A, NC_000002.12:g.27133642G>C, NC_000002.11:g.27356510G>A, NC_000002.11:g.27356510G>C, NM_013388.6:c.215C>T, NM_013388.6:c.215C>G, NM_013388.5:c.215C>T, NM_013388.5:c.215C>G, NM_013388.4:c.215C>T, NM_013388.4:c.215C>G, XR_939649.4:n.430C>T, XR_939649.4:n.430C>G, XR_939649.3:n.436C>T, XR_939649.3:n.436C>G, XR_939649.2:n.449C>T, XR_939649.2:n.449C>G, XR_939649.1:n.449C>T, XR_939649.1:n.449C>G, NR_138479.2:n.430C>T, NR_138479.2:n.430C>G, NR_138479.1:n.469C>T, NR_138479.1:n.469C>G, NM_001330484.2:c.-2C>T, NM_001330484.2:c.-2C>G, NM_001330484.1:c.-2C>T, NM_001330484.1:c.-2C>G, NM_001330486.2:c.215C>T, NM_001330486.2:c.215C>G, NM_001330486.1:c.215C>T, NM_001330486.1:c.215C>G, NM_001330485.2:c.215C>T, NM_001330485.2:c.215C>G, NM_001330485.1:c.215C>T, NM_001330485.1:c.215C>G, NM_001330487.2:c.215C>T, NM_001330487.2:c.215C>G, NM_001330487.1:c.215C>T, NM_001330487.1:c.215C>G, NP_037520.1:p.Thr72Ile, NP_037520.1:p.Thr72Ser, NP_001317415.1:p.Thr72Ile, NP_001317415.1:p.Thr72Ser, NP_001317414.1:p.Thr72Ile, NP_001317414.1:p.Thr72Ser, NP_001317416.1:p.Thr72Ile, NP_001317416.1:p.Thr72Ser

Select item 146759711211.

rs1467597112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27132709 (GRCh38)
2:27355577 (GRCh37)
Canonical SPDI:: NC_000002.12:27132708:C:T
Gene:: PREB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27132709C>T, NC_000002.11:g.27355577C>T, NM_013388.6:c.646G>A, NM_013388.5:c.646G>A, NM_013388.4:c.646G>A, XR_939649.4:n.861G>A, XR_939649.3:n.867G>A, XR_939649.2:n.880G>A, XR_939649.1:n.880G>A, NR_138479.2:n.861G>A, NR_138479.1:n.900G>A, NM_001330484.2:c.430G>A, NM_001330484.1:c.430G>A, NM_001330486.2:c.646G>A, NM_001330486.1:c.646G>A, NM_001330485.2:c.646G>A, NM_001330485.1:c.646G>A, NM_001330487.2:c.646G>A, NM_001330487.1:c.646G>A, NP_037520.1:p.Asp216Asn, NP_001317413.1:p.Asp144Asn, NP_001317415.1:p.Asp216Asn, NP_001317414.1:p.Asp216Asn, NP_001317416.1:p.Asp216Asn

Select item 146724294112.

rs1467242941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27131499 (GRCh38)
2:27354367 (GRCh37)
Canonical SPDI:: NC_000002.12:27131498:G:A
Gene:: PREB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27131499G>A, NC_000002.11:g.27354367G>A, NM_013388.6:c.1169C>T, NM_013388.5:c.1169C>T, NM_013388.4:c.1169C>T, XR_939649.4:n.1250C>T, XR_939649.3:n.1256C>T, XR_939649.2:n.1269C>T, XR_939649.1:n.1269C>T, NR_138479.2:n.1410C>T, NR_138479.1:n.1449C>T, NM_001330484.2:c.953C>T, NM_001330484.1:c.953C>T, NM_001330486.2:c.1009C>T, NM_001330486.1:c.1009C>T, NM_001330485.2:c.995C>T, NM_001330485.1:c.995C>T, NM_001330487.2:c.835C>T, NM_001330487.1:c.835C>T, NP_037520.1:p.Pro390Leu, NP_001317413.1:p.Pro318Leu, NP_001317414.1:p.Pro332Leu

Select item 146354595313.

rs1463545953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27134353 (GRCh38)
2:27357221 (GRCh37)
Canonical SPDI:: NC_000002.12:27134352:G:A
Gene:: PREB (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_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_000002.12:g.27134353G>A, NC_000002.11:g.27357221G>A, NM_013388.6:c.69C>T, NM_013388.5:c.69C>T, NM_013388.4:c.69C>T, XR_939649.4:n.284C>T, XR_939649.3:n.290C>T, XR_939649.2:n.303C>T, XR_939649.1:n.303C>T, NR_138479.2:n.284C>T, NR_138479.1:n.323C>T, NM_001330484.2:c.-81C>T, NM_001330484.1:c.-81C>T, NM_001330486.2:c.69C>T, NM_001330486.1:c.69C>T, NM_001330485.2:c.69C>T, NM_001330485.1:c.69C>T, NM_001330487.2:c.69C>T, NM_001330487.1:c.69C>T

Select item 145942843914.

rs1459428439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27131467 (GRCh38)
2:27354335 (GRCh37)
Canonical SPDI:: NC_000002.12:27131466:G:A
Gene:: PREB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000002.12:g.27131467G>A, NC_000002.11:g.27354335G>A, NM_013388.6:c.1201C>T, NM_013388.5:c.1201C>T, NM_013388.4:c.1201C>T, XR_939649.4:n.1282C>T, XR_939649.3:n.1288C>T, XR_939649.2:n.1301C>T, XR_939649.1:n.1301C>T, NR_138479.2:n.1442C>T, NR_138479.1:n.1481C>T, NM_001330484.2:c.985C>T, NM_001330484.1:c.985C>T, NM_001330486.2:c.1041C>T, NM_001330486.1:c.1041C>T, NM_001330485.2:c.1027C>T, NM_001330485.1:c.1027C>T, NM_001330487.2:c.867C>T, NM_001330487.1:c.867C>T, NP_037520.1:p.Leu401Phe, NP_001317413.1:p.Leu329Phe, NP_001317414.1:p.Leu343Phe

Select item 144881180315.

rs1448811803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:27131468 (GRCh38)
2:27354336 (GRCh37)
Canonical SPDI:: NC_000002.12:27131467:C:A,NC_000002.12:27131467:C:G
Gene:: PREB (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27131468C>A, NC_000002.12:g.27131468C>G, NC_000002.11:g.27354336C>A, NC_000002.11:g.27354336C>G, NM_013388.6:c.1200G>T, NM_013388.6:c.1200G>C, NM_013388.5:c.1200G>T, NM_013388.5:c.1200G>C, NM_013388.4:c.1200G>T, NM_013388.4:c.1200G>C, XR_939649.4:n.1281G>T, XR_939649.4:n.1281G>C, XR_939649.3:n.1287G>T, XR_939649.3:n.1287G>C, XR_939649.2:n.1300G>T, XR_939649.2:n.1300G>C, XR_939649.1:n.1300G>T, XR_939649.1:n.1300G>C, NR_138479.2:n.1441G>T, NR_138479.2:n.1441G>C, NR_138479.1:n.1480G>T, NR_138479.1:n.1480G>C, NM_001330484.2:c.984G>T, NM_001330484.2:c.984G>C, NM_001330484.1:c.984G>T, NM_001330484.1:c.984G>C, NM_001330486.2:c.1040G>T, NM_001330486.2:c.1040G>C, NM_001330486.1:c.1040G>T, NM_001330486.1:c.1040G>C, NM_001330485.2:c.1026G>T, NM_001330485.2:c.1026G>C, NM_001330485.1:c.1026G>T, NM_001330485.1:c.1026G>C, NM_001330487.2:c.866G>T, NM_001330487.2:c.866G>C, NM_001330487.1:c.866G>T, NM_001330487.1:c.866G>C, NP_001317415.1:p.Gly347Val, NP_001317415.1:p.Gly347Ala, NP_001317416.1:p.Gly289Val, NP_001317416.1:p.Gly289Ala

Select item 144680139216.

rs1446801392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27134359 (GRCh38)
2:27357227 (GRCh37)
Canonical SPDI:: NC_000002.12:27134358:G:A,NC_000002.12:27134358:G:C
Gene:: PREB (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27134359G>A, NC_000002.12:g.27134359G>C, NC_000002.11:g.27357227G>A, NC_000002.11:g.27357227G>C, NM_013388.6:c.63C>T, NM_013388.6:c.63C>G, NM_013388.5:c.63C>T, NM_013388.5:c.63C>G, NM_013388.4:c.63C>T, NM_013388.4:c.63C>G, XR_939649.4:n.278C>T, XR_939649.4:n.278C>G, XR_939649.3:n.284C>T, XR_939649.3:n.284C>G, XR_939649.2:n.297C>T, XR_939649.2:n.297C>G, XR_939649.1:n.297C>T, XR_939649.1:n.297C>G, NR_138479.2:n.278C>T, NR_138479.2:n.278C>G, NR_138479.1:n.317C>T, NR_138479.1:n.317C>G, NM_001330484.2:c.-87C>T, NM_001330484.2:c.-87C>G, NM_001330484.1:c.-87C>T, NM_001330484.1:c.-87C>G, NM_001330486.2:c.63C>T, NM_001330486.2:c.63C>G, NM_001330486.1:c.63C>T, NM_001330486.1:c.63C>G, NM_001330485.2:c.63C>T, NM_001330485.2:c.63C>G, NM_001330485.1:c.63C>T, NM_001330485.1:c.63C>G, NM_001330487.2:c.63C>T, NM_001330487.2:c.63C>G, NM_001330487.1:c.63C>T, NM_001330487.1:c.63C>G

Select item 144495070717.

rs1444950707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:27133597 (GRCh38)
2:27356465 (GRCh37)
Canonical SPDI:: NC_000002.12:27133596:T:G
Gene:: PREB (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27133597T>G, NC_000002.11:g.27356465T>G, NM_013388.6:c.260A>C, NM_013388.5:c.260A>C, NM_013388.4:c.260A>C, XR_939649.4:n.475A>C, XR_939649.3:n.481A>C, XR_939649.2:n.494A>C, XR_939649.1:n.494A>C, NR_138479.2:n.475A>C, NR_138479.1:n.514A>C, NM_001330484.2:c.44A>C, NM_001330484.1:c.44A>C, NM_001330486.2:c.260A>C, NM_001330486.1:c.260A>C, NM_001330485.2:c.260A>C, NM_001330485.1:c.260A>C, NM_001330487.2:c.260A>C, NM_001330487.1:c.260A>C, NP_037520.1:p.Asp87Ala, NP_001317413.1:p.Asp15Ala, NP_001317415.1:p.Asp87Ala, NP_001317414.1:p.Asp87Ala, NP_001317416.1:p.Asp87Ala

Select item 144147681418.

rs1441476814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27133322 (GRCh38)
2:27356190 (GRCh37)
Canonical SPDI:: NC_000002.12:27133321:C:T
Gene:: PREB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000002.12:g.27133322C>T, NC_000002.11:g.27356190C>T, NM_013388.6:c.341G>A, NM_013388.5:c.341G>A, NM_013388.4:c.341G>A, XR_939649.4:n.556G>A, XR_939649.3:n.562G>A, XR_939649.2:n.575G>A, XR_939649.1:n.575G>A, NR_138479.2:n.556G>A, NR_138479.1:n.595G>A, NM_001330484.2:c.125G>A, NM_001330484.1:c.125G>A, NM_001330486.2:c.341G>A, NM_001330486.1:c.341G>A, NM_001330485.2:c.341G>A, NM_001330485.1:c.341G>A, NM_001330487.2:c.341G>A, NM_001330487.1:c.341G>A, NP_037520.1:p.Gly114Glu, NP_001317413.1:p.Gly42Glu, NP_001317415.1:p.Gly114Glu, NP_001317414.1:p.Gly114Glu, NP_001317416.1:p.Gly114Glu

Select item 143156606819.

rs1431566068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27132677 (GRCh38)
2:27355545 (GRCh37)
Canonical SPDI:: NC_000002.12:27132676:C:T
Gene:: PREB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000002.12:g.27132677C>T, NC_000002.11:g.27355545C>T, NM_013388.6:c.678G>A, NM_013388.5:c.678G>A, NM_013388.4:c.678G>A, XR_939649.4:n.893G>A, XR_939649.3:n.899G>A, XR_939649.2:n.912G>A, XR_939649.1:n.912G>A, NR_138479.2:n.893G>A, NR_138479.1:n.932G>A, NM_001330484.2:c.462G>A, NM_001330484.1:c.462G>A, NM_001330486.2:c.678G>A, NM_001330486.1:c.678G>A, NM_001330485.2:c.678G>A, NM_001330485.1:c.678G>A, NM_001330487.2:c.678G>A, NM_001330487.1:c.678G>A

Select item 142662724520.

rs1426627245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27133244 (GRCh38)
2:27356112 (GRCh37)
Canonical SPDI:: NC_000002.12:27133243:C:A,NC_000002.12:27133243:C:T
Gene:: PREB (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000002.12:g.27133244C>A, NC_000002.12:g.27133244C>T, NC_000002.11:g.27356112C>A, NC_000002.11:g.27356112C>T, NM_013388.6:c.419G>T, NM_013388.6:c.419G>A, NM_013388.5:c.419G>T, NM_013388.5:c.419G>A, NM_013388.4:c.419G>T, NM_013388.4:c.419G>A, XR_939649.4:n.634G>T, XR_939649.4:n.634G>A, XR_939649.3:n.640G>T, XR_939649.3:n.640G>A, XR_939649.2:n.653G>T, XR_939649.2:n.653G>A, XR_939649.1:n.653G>T, XR_939649.1:n.653G>A, NR_138479.2:n.634G>T, NR_138479.2:n.634G>A, NR_138479.1:n.673G>T, NR_138479.1:n.673G>A, NM_001330484.2:c.203G>T, NM_001330484.2:c.203G>A, NM_001330484.1:c.203G>T, NM_001330484.1:c.203G>A, NM_001330486.2:c.419G>T, NM_001330486.2:c.419G>A, NM_001330486.1:c.419G>T, NM_001330486.1:c.419G>A, NM_001330485.2:c.419G>T, NM_001330485.2:c.419G>A, NM_001330485.1:c.419G>T, NM_001330485.1:c.419G>A, NM_001330487.2:c.419G>T, NM_001330487.2:c.419G>A, NM_001330487.1:c.419G>T, NM_001330487.1:c.419G>A, NP_037520.1:p.Arg140Met, NP_037520.1:p.Arg140Lys, NP_001317413.1:p.Arg68Met, NP_001317413.1:p.Arg68Lys, NP_001317415.1:p.Arg140Met, NP_001317415.1:p.Arg140Lys, NP_001317414.1:p.Arg140Met, NP_001317414.1:p.Arg140Lys, NP_001317416.1:p.Arg140Met, NP_001317416.1:p.Arg140Lys

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