SNP Links for Protein (Select 14249464) - SNP

Select item 14902396461.

rs1490239646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58514183 (GRCh38)
19:59025550 (GRCh37)
Canonical SPDI:: NC_000019.10:58514182:C:T
Gene:: ZBTB45 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58514183C>T, NC_000019.9:g.59025550C>T, NG_047124.1:g.2883G>A, NM_032792.4:c.1407G>A, NM_032792.3:c.1407G>A, NM_032792.2:c.1407G>A, XM_006723445.4:c.1407G>A, XM_006723445.3:c.1407G>A, XM_006723445.2:c.1407G>A, XM_006723445.1:c.1407G>A, NM_001316978.2:c.1407G>A, NM_001316978.1:c.1407G>A, NM_001316982.2:c.1407G>A, NM_001316982.1:c.1407G>A, NM_001316981.2:c.1407G>A, NM_001316981.1:c.1407G>A, NM_001316980.2:c.1407G>A, NM_001316980.1:c.1407G>A, NM_001316979.2:c.1407G>A, NM_001316979.1:c.1407G>A

Select item 14853180272.

rs1485318027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58516953 (GRCh38)
19:59028320 (GRCh37)
Canonical SPDI:: NC_000019.10:58516952:C:T
Gene:: ZBTB45 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58516953C>T, NC_000019.9:g.59028320C>T, NG_047124.1:g.113G>A, NM_032792.4:c.721G>A, NM_032792.3:c.721G>A, NM_032792.2:c.721G>A, XM_006723445.4:c.721G>A, XM_006723445.3:c.721G>A, XM_006723445.2:c.721G>A, XM_006723445.1:c.721G>A, NM_001316978.2:c.721G>A, NM_001316978.1:c.721G>A, NM_001316982.2:c.721G>A, NM_001316982.1:c.721G>A, NM_001316981.2:c.721G>A, NM_001316981.1:c.721G>A, NM_001316980.2:c.721G>A, NM_001316980.1:c.721G>A, NM_001316979.2:c.721G>A, NM_001316979.1:c.721G>A, NP_116181.1:p.Ala241Thr, XP_006723508.1:p.Ala241Thr, NP_001303907.1:p.Ala241Thr, NP_001303911.1:p.Ala241Thr, NP_001303910.1:p.Ala241Thr, NP_001303909.1:p.Ala241Thr, NP_001303908.1:p.Ala241Thr

Select item 14798212603.

rs1479821260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58514234 (GRCh38)
19:59025601 (GRCh37)
Canonical SPDI:: NC_000019.10:58514233:C:T
Gene:: ZBTB45 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58514234C>T, NC_000019.9:g.59025601C>T, NG_047124.1:g.2832G>A, NM_032792.4:c.1356G>A, NM_032792.3:c.1356G>A, NM_032792.2:c.1356G>A, XM_006723445.4:c.1356G>A, XM_006723445.3:c.1356G>A, XM_006723445.2:c.1356G>A, XM_006723445.1:c.1356G>A, NM_001316978.2:c.1356G>A, NM_001316978.1:c.1356G>A, NM_001316982.2:c.1356G>A, NM_001316982.1:c.1356G>A, NM_001316981.2:c.1356G>A, NM_001316981.1:c.1356G>A, NM_001316980.2:c.1356G>A, NM_001316980.1:c.1356G>A, NM_001316979.2:c.1356G>A, NM_001316979.1:c.1356G>A

Select item 14796722984.

rs1479672298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:58517650 (GRCh38)
19:59029017 (GRCh37)
Canonical SPDI:: NC_000019.10:58517649:A:G,NC_000019.10:58517649:A:T
Gene:: ZBTB45 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000019.10:g.58517650A>G, NC_000019.10:g.58517650A>T, NC_000019.9:g.59029017A>G, NC_000019.9:g.59029017A>T, NM_032792.4:c.24T>C, NM_032792.4:c.24T>A, NM_032792.3:c.24T>C, NM_032792.3:c.24T>A, NM_032792.2:c.24T>C, NM_032792.2:c.24T>A, XM_006723445.4:c.24T>C, XM_006723445.4:c.24T>A, XM_006723445.3:c.24T>C, XM_006723445.3:c.24T>A, XM_006723445.2:c.24T>C, XM_006723445.2:c.24T>A, XM_006723445.1:c.24T>C, XM_006723445.1:c.24T>A, NM_001316978.2:c.24T>C, NM_001316978.2:c.24T>A, NM_001316978.1:c.24T>C, NM_001316978.1:c.24T>A, NM_001316982.2:c.24T>C, NM_001316982.2:c.24T>A, NM_001316982.1:c.24T>C, NM_001316982.1:c.24T>A, NM_001316981.2:c.24T>C, NM_001316981.2:c.24T>A, NM_001316981.1:c.24T>C, NM_001316981.1:c.24T>A, NM_001316980.2:c.24T>C, NM_001316980.2:c.24T>A, NM_001316980.1:c.24T>C, NM_001316980.1:c.24T>A, NM_001316979.2:c.24T>C, NM_001316979.2:c.24T>A, NM_001316979.1:c.24T>C, NM_001316979.1:c.24T>A, NP_116181.1:p.His8Gln, XP_006723508.1:p.His8Gln, NP_001303907.1:p.His8Gln, NP_001303911.1:p.His8Gln, NP_001303910.1:p.His8Gln, NP_001303909.1:p.His8Gln, NP_001303908.1:p.His8Gln

Select item 14784607235.

rs1478460723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58514057 (GRCh38)
19:59025424 (GRCh37)
Canonical SPDI:: NC_000019.10:58514056:G:A
Gene:: ZBTB45 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000052/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58514057G>A, NC_000019.9:g.59025424G>A, NG_047124.1:g.3009C>T, NM_032792.4:c.1533C>T, NM_032792.3:c.1533C>T, NM_032792.2:c.1533C>T, XM_006723445.4:c.1533C>T, XM_006723445.3:c.1533C>T, XM_006723445.2:c.1533C>T, XM_006723445.1:c.1533C>T, NM_001316978.2:c.1533C>T, NM_001316978.1:c.1533C>T, NM_001316982.2:c.1533C>T, NM_001316982.1:c.1533C>T, NM_001316981.2:c.1533C>T, NM_001316981.1:c.1533C>T, NM_001316980.2:c.1533C>T, NM_001316980.1:c.1533C>T, NM_001316979.2:c.1533C>T, NM_001316979.1:c.1533C>T

Select item 14774272106.

rs1477427210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:58517328 (GRCh38)
19:59028695 (GRCh37)
Canonical SPDI:: NC_000019.10:58517327:C:G,NC_000019.10:58517327:C:T
Gene:: ZBTB45 (Varview)
Functional Consequence:: missense_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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58517328C>G, NC_000019.10:g.58517328C>T, NC_000019.9:g.59028695C>G, NC_000019.9:g.59028695C>T, NM_032792.4:c.346G>C, NM_032792.4:c.346G>A, NM_032792.3:c.346G>C, NM_032792.3:c.346G>A, NM_032792.2:c.346G>C, NM_032792.2:c.346G>A, XM_006723445.4:c.346G>C, XM_006723445.4:c.346G>A, XM_006723445.3:c.346G>C, XM_006723445.3:c.346G>A, XM_006723445.2:c.346G>C, XM_006723445.2:c.346G>A, XM_006723445.1:c.346G>C, XM_006723445.1:c.346G>A, NM_001316978.2:c.346G>C, NM_001316978.2:c.346G>A, NM_001316978.1:c.346G>C, NM_001316978.1:c.346G>A, NM_001316982.2:c.346G>C, NM_001316982.2:c.346G>A, NM_001316982.1:c.346G>C, NM_001316982.1:c.346G>A, NM_001316981.2:c.346G>C, NM_001316981.2:c.346G>A, NM_001316981.1:c.346G>C, NM_001316981.1:c.346G>A, NM_001316980.2:c.346G>C, NM_001316980.2:c.346G>A, NM_001316980.1:c.346G>C, NM_001316980.1:c.346G>A, NM_001316979.2:c.346G>C, NM_001316979.2:c.346G>A, NM_001316979.1:c.346G>C, NM_001316979.1:c.346G>A, NP_116181.1:p.Asp116His, NP_116181.1:p.Asp116Asn, XP_006723508.1:p.Asp116His, XP_006723508.1:p.Asp116Asn, NP_001303907.1:p.Asp116His, NP_001303907.1:p.Asp116Asn, NP_001303911.1:p.Asp116His, NP_001303911.1:p.Asp116Asn, NP_001303910.1:p.Asp116His, NP_001303910.1:p.Asp116Asn, NP_001303909.1:p.Asp116His, NP_001303909.1:p.Asp116Asn, NP_001303908.1:p.Asp116His, NP_001303908.1:p.Asp116Asn

Select item 14765426607.

rs1476542660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58517126 (GRCh38)
19:59028493 (GRCh37)
Canonical SPDI:: NC_000019.10:58517125:G:A
Gene:: ZBTB45 (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=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.58517126G>A, NC_000019.9:g.59028493G>A, NM_032792.4:c.548C>T, NM_032792.3:c.548C>T, NM_032792.2:c.548C>T, XM_006723445.4:c.548C>T, XM_006723445.3:c.548C>T, XM_006723445.2:c.548C>T, XM_006723445.1:c.548C>T, NM_001316978.2:c.548C>T, NM_001316978.1:c.548C>T, NM_001316982.2:c.548C>T, NM_001316982.1:c.548C>T, NM_001316981.2:c.548C>T, NM_001316981.1:c.548C>T, NM_001316980.2:c.548C>T, NM_001316980.1:c.548C>T, NM_001316979.2:c.548C>T, NM_001316979.1:c.548C>T, NP_116181.1:p.Ala183Val, XP_006723508.1:p.Ala183Val, NP_001303907.1:p.Ala183Val, NP_001303911.1:p.Ala183Val, NP_001303910.1:p.Ala183Val, NP_001303909.1:p.Ala183Val, NP_001303908.1:p.Ala183Val

Select item 14764932928.

rs1476493292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58516620 (GRCh38)
19:59027987 (GRCh37)
Canonical SPDI:: NC_000019.10:58516619:G:A
Gene:: ZBTB45 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58516620G>A, NC_000019.9:g.59027987G>A, NG_047124.1:g.446C>T, NM_032792.4:c.1054C>T, NM_032792.3:c.1054C>T, NM_032792.2:c.1054C>T, XM_006723445.4:c.1054C>T, XM_006723445.3:c.1054C>T, XM_006723445.2:c.1054C>T, XM_006723445.1:c.1054C>T, NM_001316978.2:c.1054C>T, NM_001316978.1:c.1054C>T, NM_001316982.2:c.1054C>T, NM_001316982.1:c.1054C>T, NM_001316981.2:c.1054C>T, NM_001316981.1:c.1054C>T, NM_001316980.2:c.1054C>T, NM_001316980.1:c.1054C>T, NM_001316979.2:c.1054C>T, NM_001316979.1:c.1054C>T, NP_116181.1:p.Pro352Ser, XP_006723508.1:p.Pro352Ser, NP_001303907.1:p.Pro352Ser, NP_001303911.1:p.Pro352Ser, NP_001303910.1:p.Pro352Ser, NP_001303909.1:p.Pro352Ser, NP_001303908.1:p.Pro352Ser

Select item 14734565499.

rs1473456549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58516469 (GRCh38)
19:59027836 (GRCh37)
Canonical SPDI:: NC_000019.10:58516468:G:A
Gene:: ZBTB45 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58516469G>A, NC_000019.9:g.59027836G>A, NG_047124.1:g.597C>T, NM_032792.4:c.1205C>T, NM_032792.3:c.1205C>T, NM_032792.2:c.1205C>T, XM_006723445.4:c.1205C>T, XM_006723445.3:c.1205C>T, XM_006723445.2:c.1205C>T, XM_006723445.1:c.1205C>T, NM_001316978.2:c.1205C>T, NM_001316978.1:c.1205C>T, NM_001316982.2:c.1205C>T, NM_001316982.1:c.1205C>T, NM_001316981.2:c.1205C>T, NM_001316981.1:c.1205C>T, NM_001316980.2:c.1205C>T, NM_001316980.1:c.1205C>T, NM_001316979.2:c.1205C>T, NM_001316979.1:c.1205C>T, NP_116181.1:p.Thr402Met, XP_006723508.1:p.Thr402Met, NP_001303907.1:p.Thr402Met, NP_001303911.1:p.Thr402Met, NP_001303910.1:p.Thr402Met, NP_001303909.1:p.Thr402Met, NP_001303908.1:p.Thr402Met

Select item 147293888710.

rs1472938887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:58517534 (GRCh38)
19:59028901 (GRCh37)
Canonical SPDI:: NC_000019.10:58517533:T:C,NC_000019.10:58517533:T:G
Gene:: ZBTB45 (Varview)
Functional Consequence:: 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)
G=0.002729/5 (Korea1K)
HGVS:: NC_000019.10:g.58517534T>C, NC_000019.10:g.58517534T>G, NC_000019.9:g.59028901T>C, NC_000019.9:g.59028901T>G, NM_032792.4:c.140A>G, NM_032792.4:c.140A>C, NM_032792.3:c.140A>G, NM_032792.3:c.140A>C, NM_032792.2:c.140A>G, NM_032792.2:c.140A>C, XM_006723445.4:c.140A>G, XM_006723445.4:c.140A>C, XM_006723445.3:c.140A>G, XM_006723445.3:c.140A>C, XM_006723445.2:c.140A>G, XM_006723445.2:c.140A>C, XM_006723445.1:c.140A>G, XM_006723445.1:c.140A>C, NM_001316978.2:c.140A>G, NM_001316978.2:c.140A>C, NM_001316978.1:c.140A>G, NM_001316978.1:c.140A>C, NM_001316982.2:c.140A>G, NM_001316982.2:c.140A>C, NM_001316982.1:c.140A>G, NM_001316982.1:c.140A>C, NM_001316981.2:c.140A>G, NM_001316981.2:c.140A>C, NM_001316981.1:c.140A>G, NM_001316981.1:c.140A>C, NM_001316980.2:c.140A>G, NM_001316980.2:c.140A>C, NM_001316980.1:c.140A>G, NM_001316980.1:c.140A>C, NM_001316979.2:c.140A>G, NM_001316979.2:c.140A>C, NM_001316979.1:c.140A>G, NM_001316979.1:c.140A>C, NP_116181.1:p.His47Arg, NP_116181.1:p.His47Pro, XP_006723508.1:p.His47Arg, XP_006723508.1:p.His47Pro, NP_001303907.1:p.His47Arg, NP_001303907.1:p.His47Pro, NP_001303911.1:p.His47Arg, NP_001303911.1:p.His47Pro, NP_001303910.1:p.His47Arg, NP_001303910.1:p.His47Pro, NP_001303909.1:p.His47Arg, NP_001303909.1:p.His47Pro, NP_001303908.1:p.His47Arg, NP_001303908.1:p.His47Pro

Select item 147195576111.

rs1471955761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:58517616 (GRCh38)
19:59028983 (GRCh37)
Canonical SPDI:: NC_000019.10:58517615:G:C
Gene:: ZBTB45 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58517616G>C, NC_000019.9:g.59028983G>C, NM_032792.4:c.58C>G, NM_032792.3:c.58C>G, NM_032792.2:c.58C>G, XM_006723445.4:c.58C>G, XM_006723445.3:c.58C>G, XM_006723445.2:c.58C>G, XM_006723445.1:c.58C>G, NM_001316978.2:c.58C>G, NM_001316978.1:c.58C>G, NM_001316982.2:c.58C>G, NM_001316982.1:c.58C>G, NM_001316981.2:c.58C>G, NM_001316981.1:c.58C>G, NM_001316980.2:c.58C>G, NM_001316980.1:c.58C>G, NM_001316979.2:c.58C>G, NM_001316979.1:c.58C>G, NP_116181.1:p.Leu20Val, XP_006723508.1:p.Leu20Val, NP_001303907.1:p.Leu20Val, NP_001303911.1:p.Leu20Val, NP_001303910.1:p.Leu20Val, NP_001303909.1:p.Leu20Val, NP_001303908.1:p.Leu20Val

Select item 147182292412.

rs1471822924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:58514189 (GRCh38)
19:59025556 (GRCh37)
Canonical SPDI:: NC_000019.10:58514188:G:T
Gene:: ZBTB45 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58514189G>T, NC_000019.9:g.59025556G>T, NG_047124.1:g.2877C>A, NM_032792.4:c.1401C>A, NM_032792.3:c.1401C>A, NM_032792.2:c.1401C>A, XM_006723445.4:c.1401C>A, XM_006723445.3:c.1401C>A, XM_006723445.2:c.1401C>A, XM_006723445.1:c.1401C>A, NM_001316978.2:c.1401C>A, NM_001316978.1:c.1401C>A, NM_001316982.2:c.1401C>A, NM_001316982.1:c.1401C>A, NM_001316981.2:c.1401C>A, NM_001316981.1:c.1401C>A, NM_001316980.2:c.1401C>A, NM_001316980.1:c.1401C>A, NM_001316979.2:c.1401C>A, NM_001316979.1:c.1401C>A

Select item 147098924513.

rs1470989245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:58517335 (GRCh38)
19:59028702 (GRCh37)
Canonical SPDI:: NC_000019.10:58517334:T:G
Gene:: ZBTB45 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58517335T>G, NC_000019.9:g.59028702T>G, NM_032792.4:c.339A>C, NM_032792.3:c.339A>C, NM_032792.2:c.339A>C, XM_006723445.4:c.339A>C, XM_006723445.3:c.339A>C, XM_006723445.2:c.339A>C, XM_006723445.1:c.339A>C, NM_001316978.2:c.339A>C, NM_001316978.1:c.339A>C, NM_001316982.2:c.339A>C, NM_001316982.1:c.339A>C, NM_001316981.2:c.339A>C, NM_001316981.1:c.339A>C, NM_001316980.2:c.339A>C, NM_001316980.1:c.339A>C, NM_001316979.2:c.339A>C, NM_001316979.1:c.339A>C

Select item 146962089314.

rs1469620893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58514066 (GRCh38)
19:59025433 (GRCh37)
Canonical SPDI:: NC_000019.10:58514065:G:A
Gene:: ZBTB45 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58514066G>A, NC_000019.9:g.59025433G>A, NG_047124.1:g.3000C>T, NM_032792.4:c.1524C>T, NM_032792.3:c.1524C>T, NM_032792.2:c.1524C>T, XM_006723445.4:c.1524C>T, XM_006723445.3:c.1524C>T, XM_006723445.2:c.1524C>T, XM_006723445.1:c.1524C>T, NM_001316978.2:c.1524C>T, NM_001316978.1:c.1524C>T, NM_001316982.2:c.1524C>T, NM_001316982.1:c.1524C>T, NM_001316981.2:c.1524C>T, NM_001316981.1:c.1524C>T, NM_001316980.2:c.1524C>T, NM_001316980.1:c.1524C>T, NM_001316979.2:c.1524C>T, NM_001316979.1:c.1524C>T

Select item 146909894215.

rs1469098942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58516723 (GRCh38)
19:59028090 (GRCh37)
Canonical SPDI:: NC_000019.10:58516722:G:A
Gene:: ZBTB45 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58516723G>A, NC_000019.9:g.59028090G>A, NG_047124.1:g.343C>T, NM_032792.4:c.951C>T, NM_032792.3:c.951C>T, NM_032792.2:c.951C>T, XM_006723445.4:c.951C>T, XM_006723445.3:c.951C>T, XM_006723445.2:c.951C>T, XM_006723445.1:c.951C>T, NM_001316978.2:c.951C>T, NM_001316978.1:c.951C>T, NM_001316982.2:c.951C>T, NM_001316982.1:c.951C>T, NM_001316981.2:c.951C>T, NM_001316981.1:c.951C>T, NM_001316980.2:c.951C>T, NM_001316980.1:c.951C>T, NM_001316979.2:c.951C>T, NM_001316979.1:c.951C>T

Select item 146812444716.

rs1468124447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58516920 (GRCh38)
19:59028287 (GRCh37)
Canonical SPDI:: NC_000019.10:58516919:C:T
Gene:: ZBTB45 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58516920C>T, NC_000019.9:g.59028287C>T, NG_047124.1:g.146G>A, NM_032792.4:c.754G>A, NM_032792.3:c.754G>A, NM_032792.2:c.754G>A, XM_006723445.4:c.754G>A, XM_006723445.3:c.754G>A, XM_006723445.2:c.754G>A, XM_006723445.1:c.754G>A, NM_001316978.2:c.754G>A, NM_001316978.1:c.754G>A, NM_001316982.2:c.754G>A, NM_001316982.1:c.754G>A, NM_001316981.2:c.754G>A, NM_001316981.1:c.754G>A, NM_001316980.2:c.754G>A, NM_001316980.1:c.754G>A, NM_001316979.2:c.754G>A, NM_001316979.1:c.754G>A, NP_116181.1:p.Ala252Thr, XP_006723508.1:p.Ala252Thr, NP_001303907.1:p.Ala252Thr, NP_001303911.1:p.Ala252Thr, NP_001303910.1:p.Ala252Thr, NP_001303909.1:p.Ala252Thr, NP_001303908.1:p.Ala252Thr

Select item 146779473917.

rs1467794739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58517577 (GRCh38)
19:59028944 (GRCh37)
Canonical SPDI:: NC_000019.10:58517576:A:G
Gene:: ZBTB45 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58517577A>G, NC_000019.9:g.59028944A>G, NM_032792.4:c.97T>C, NM_032792.3:c.97T>C, NM_032792.2:c.97T>C, XM_006723445.4:c.97T>C, XM_006723445.3:c.97T>C, XM_006723445.2:c.97T>C, XM_006723445.1:c.97T>C, NM_001316978.2:c.97T>C, NM_001316978.1:c.97T>C, NM_001316982.2:c.97T>C, NM_001316982.1:c.97T>C, NM_001316981.2:c.97T>C, NM_001316981.1:c.97T>C, NM_001316980.2:c.97T>C, NM_001316980.1:c.97T>C, NM_001316979.2:c.97T>C, NM_001316979.1:c.97T>C, NP_116181.1:p.Cys33Arg, XP_006723508.1:p.Cys33Arg, NP_001303907.1:p.Cys33Arg, NP_001303911.1:p.Cys33Arg, NP_001303910.1:p.Cys33Arg, NP_001303909.1:p.Cys33Arg, NP_001303908.1:p.Cys33Arg

Select item 146309234318.

rs1463092343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58516852 (GRCh38)
19:59028219 (GRCh37)
Canonical SPDI:: NC_000019.10:58516851:C:T
Gene:: ZBTB45 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58516852C>T, NC_000019.9:g.59028219C>T, NG_047124.1:g.214G>A, NM_032792.4:c.822G>A, NM_032792.3:c.822G>A, NM_032792.2:c.822G>A, XM_006723445.4:c.822G>A, XM_006723445.3:c.822G>A, XM_006723445.2:c.822G>A, XM_006723445.1:c.822G>A, NM_001316978.2:c.822G>A, NM_001316978.1:c.822G>A, NM_001316982.2:c.822G>A, NM_001316982.1:c.822G>A, NM_001316981.2:c.822G>A, NM_001316981.1:c.822G>A, NM_001316980.2:c.822G>A, NM_001316980.1:c.822G>A, NM_001316979.2:c.822G>A, NM_001316979.1:c.822G>A

Select item 146175724019.

rs1461757240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58517069 (GRCh38)
19:59028436 (GRCh37)
Canonical SPDI:: NC_000019.10:58517068:G:A
Gene:: ZBTB45 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58517069G>A, NC_000019.9:g.59028436G>A, NM_032792.4:c.605C>T, NM_032792.3:c.605C>T, NM_032792.2:c.605C>T, XM_006723445.4:c.605C>T, XM_006723445.3:c.605C>T, XM_006723445.2:c.605C>T, XM_006723445.1:c.605C>T, NM_001316978.2:c.605C>T, NM_001316978.1:c.605C>T, NM_001316982.2:c.605C>T, NM_001316982.1:c.605C>T, NM_001316981.2:c.605C>T, NM_001316981.1:c.605C>T, NM_001316980.2:c.605C>T, NM_001316980.1:c.605C>T, NM_001316979.2:c.605C>T, NM_001316979.1:c.605C>T, NP_116181.1:p.Ala202Val, XP_006723508.1:p.Ala202Val, NP_001303907.1:p.Ala202Val, NP_001303911.1:p.Ala202Val, NP_001303910.1:p.Ala202Val, NP_001303909.1:p.Ala202Val, NP_001303908.1:p.Ala202Val

Select item 145995172520.

rs1459951725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:58514195 (GRCh38)
19:59025562 (GRCh37)
Canonical SPDI:: NC_000019.10:58514194:G:A,NC_000019.10:58514194:G:C
Gene:: ZBTB45 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000012/3 (GnomAD_exomes)
C=0.000559/1 (Korea1K)
HGVS:: NC_000019.10:g.58514195G>A, NC_000019.10:g.58514195G>C, NC_000019.9:g.59025562G>A, NC_000019.9:g.59025562G>C, NG_047124.1:g.2871C>T, NG_047124.1:g.2871C>G, NM_032792.4:c.1395C>T, NM_032792.4:c.1395C>G, NM_032792.3:c.1395C>T, NM_032792.3:c.1395C>G, NM_032792.2:c.1395C>T, NM_032792.2:c.1395C>G, XM_006723445.4:c.1395C>T, XM_006723445.4:c.1395C>G, XM_006723445.3:c.1395C>T, XM_006723445.3:c.1395C>G, XM_006723445.2:c.1395C>T, XM_006723445.2:c.1395C>G, XM_006723445.1:c.1395C>T, XM_006723445.1:c.1395C>G, NM_001316978.2:c.1395C>T, NM_001316978.2:c.1395C>G, NM_001316978.1:c.1395C>T, NM_001316978.1:c.1395C>G, NM_001316982.2:c.1395C>T, NM_001316982.2:c.1395C>G, NM_001316982.1:c.1395C>T, NM_001316982.1:c.1395C>G, NM_001316981.2:c.1395C>T, NM_001316981.2:c.1395C>G, NM_001316981.1:c.1395C>T, NM_001316981.1:c.1395C>G, NM_001316980.2:c.1395C>T, NM_001316980.2:c.1395C>G, NM_001316980.1:c.1395C>T, NM_001316980.1:c.1395C>G, NM_001316979.2:c.1395C>T, NM_001316979.2:c.1395C>G, NM_001316979.1:c.1395C>T, NM_001316979.1:c.1395C>G

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Result Filters

Clinical Significance

Validation Status

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 633

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