SNP Links for Protein (Select 166362737) - SNP

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Links from Protein

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Select item 14893899431.

rs1489389943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43206620 (GRCh38)
15:43498818 (GRCh37)
Canonical SPDI:: NC_000015.10:43206619:T:C
Gene:: EPB42 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43206620T>C, NC_000015.9:g.43498818T>C, NG_011505.2:g.24237A>G, NM_000119.3:c.1418A>G, NM_000119.2:c.1418A>G, NM_001114134.2:c.1328A>G, NM_001114134.1:c.1328A>G, XM_011521350.3:c.1418A>G, XM_011521350.2:c.1418A>G, XM_011521350.1:c.1418A>G, XM_011521351.3:c.1418A>G, XM_011521351.2:c.1418A>G, XM_011521351.1:c.1418A>G, XM_011521352.3:c.1382A>G, XM_011521352.2:c.1382A>G, XM_011521352.1:c.1382A>G, XM_011521353.3:c.1313A>G, XM_011521353.2:c.1313A>G, XM_011521353.1:c.1313A>G, XM_005254225.2:c.1223A>G, XM_005254225.1:c.1223A>G, XM_011521354.2:c.863A>G, XM_011521354.1:c.863A>G, NP_000110.2:p.Gln473Arg, NP_001107606.1:p.Gln443Arg, XP_011519652.1:p.Gln473Arg, XP_011519653.1:p.Gln473Arg, XP_011519654.1:p.Gln461Arg, XP_011519655.1:p.Gln438Arg, XP_005254282.1:p.Gln408Arg, XP_011519656.1:p.Gln288Arg

Select item 14892436862.

rs1489243686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:43216408 (GRCh38)
15:43508606 (GRCh37)
Canonical SPDI:: NC_000015.10:43216407:T:A
Gene:: EPB42 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43216408T>A, NC_000015.9:g.43508606T>A, NG_011505.2:g.14449A>T, NM_000119.3:c.146A>T, NM_000119.2:c.146A>T, NM_001114134.2:c.56A>T, NM_001114134.1:c.56A>T, XM_011521350.3:c.146A>T, XM_011521350.2:c.146A>T, XM_011521350.1:c.146A>T, XM_011521351.3:c.146A>T, XM_011521351.2:c.146A>T, XM_011521351.1:c.146A>T, XM_011521352.3:c.146A>T, XM_011521352.2:c.146A>T, XM_011521352.1:c.146A>T, XM_011521353.3:c.146A>T, XM_011521353.2:c.146A>T, XM_011521353.1:c.146A>T, XM_005254225.2:c.56A>T, XM_005254225.1:c.56A>T, NP_000110.2:p.Glu49Val, NP_001107606.1:p.Glu19Val, XP_011519652.1:p.Glu49Val, XP_011519653.1:p.Glu49Val, XP_011519654.1:p.Glu49Val, XP_011519655.1:p.Glu49Val, XP_005254282.1:p.Glu19Val

Select item 14824036703.

rs1482403670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:43211474 (GRCh38)
15:43503672 (GRCh37)
Canonical SPDI:: NC_000015.10:43211473:C:A
Gene:: EPB42 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43211474C>A, NC_000015.9:g.43503672C>A, NG_011505.2:g.19383G>T, NM_000119.3:c.581G>T, NM_000119.2:c.581G>T, NM_001114134.2:c.491G>T, NM_001114134.1:c.491G>T, XM_011521350.3:c.581G>T, XM_011521350.2:c.581G>T, XM_011521350.1:c.581G>T, XM_011521351.3:c.581G>T, XM_011521351.2:c.581G>T, XM_011521351.1:c.581G>T, XM_011521352.3:c.545G>T, XM_011521352.2:c.545G>T, XM_011521352.1:c.545G>T, XM_011521353.3:c.581G>T, XM_011521353.2:c.581G>T, XM_011521353.1:c.581G>T, XM_005254225.2:c.491G>T, XM_005254225.1:c.491G>T, XM_011521354.2:c.26G>T, XM_011521354.1:c.26G>T, NP_000110.2:p.Gly194Val, NP_001107606.1:p.Gly164Val, XP_011519652.1:p.Gly194Val, XP_011519653.1:p.Gly194Val, XP_011519654.1:p.Gly182Val, XP_011519655.1:p.Gly194Val, XP_005254282.1:p.Gly164Val, XP_011519656.1:p.Gly9Val

Select item 14813995574.

rs1481399557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43203170 (GRCh38)
15:43495368 (GRCh37)
Canonical SPDI:: NC_000015.10:43203169:A:G
Gene:: EPB42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43203170A>G, NC_000015.9:g.43495368A>G, NG_011505.2:g.27687T>C, NM_000119.3:c.1814T>C, NM_000119.2:c.1814T>C, NM_001114134.2:c.1724T>C, NM_001114134.1:c.1724T>C, XM_011521350.3:c.1814T>C, XM_011521350.2:c.1814T>C, XM_011521350.1:c.1814T>C, XM_011521351.3:c.1814T>C, XM_011521351.2:c.1814T>C, XM_011521351.1:c.1814T>C, XM_011521352.3:c.1778T>C, XM_011521352.2:c.1778T>C, XM_011521352.1:c.1778T>C, XM_011521353.3:c.1709T>C, XM_011521353.2:c.1709T>C, XM_011521353.1:c.1709T>C, XM_005254225.2:c.1619T>C, XM_005254225.1:c.1619T>C, XM_011521354.2:c.1259T>C, XM_011521354.1:c.1259T>C, NP_000110.2:p.Leu605Pro, NP_001107606.1:p.Leu575Pro, XP_011519652.1:p.Leu605Pro, XP_011519653.1:p.Leu605Pro, XP_011519654.1:p.Leu593Pro, XP_011519655.1:p.Leu570Pro, XP_005254282.1:p.Leu540Pro, XP_011519656.1:p.Leu420Pro

Select item 14784873645.

rs1478487364 [Homo sapiens]

Variant type:: DEL
Alleles:: GGAGGCTGAC>- [Show Flanks]
Chromosome:: 15:43201926 (GRCh38)
15:43494124 (GRCh37)
Canonical SPDI:: NC_000015.10:43201925:GGAGGCTGAC:
Gene:: EPB42 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43201926_43201935del, NC_000015.9:g.43494124_43494133del, NG_011505.2:g.28922_28931del, NM_000119.3:c.1912_1921del, NM_000119.2:c.1912_1921del, NM_001114134.2:c.1822_1831del, NM_001114134.1:c.1822_1831del, XM_011521350.3:c.1912_1921del, XM_011521350.2:c.1912_1921del, XM_011521350.1:c.1912_1921del, XM_011521351.3:c.1912_1921del, XM_011521351.2:c.1912_1921del, XM_011521351.1:c.1912_1921del, XM_011521352.3:c.1876_1885del, XM_011521352.2:c.1876_1885del, XM_011521352.1:c.1876_1885del, XM_011521353.3:c.1807_1816del, XM_011521353.2:c.1807_1816del, XM_011521353.1:c.1807_1816del, XM_005254225.2:c.1717_1726del, XM_005254225.1:c.1717_1726del, XM_011521354.2:c.1357_1366del, XM_011521354.1:c.1357_1366del, NP_000110.2:p.Val638fs, NP_001107606.1:p.Val608fs, XP_011519652.1:p.Val638fs, XP_011519653.1:p.Val638fs, XP_011519654.1:p.Val626fs, XP_011519655.1:p.Val603fs, XP_005254282.1:p.Val573fs, XP_011519656.1:p.Val453fs

Select item 14776890826.

rs1477689082 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43209431 (GRCh38)
15:43501629 (GRCh37)
Canonical SPDI:: NC_000015.10:43209430:C:T
Gene:: EPB42 (Varview)
Functional Consequence:: coding_sequence_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_000015.10:g.43209431C>T, NC_000015.9:g.43501629C>T, NG_011505.2:g.21426G>A, NM_000119.3:c.765G>A, NM_000119.2:c.765G>A, NM_001114134.2:c.675G>A, NM_001114134.1:c.675G>A, XM_011521350.3:c.765G>A, XM_011521350.2:c.765G>A, XM_011521350.1:c.765G>A, XM_011521351.3:c.765G>A, XM_011521351.2:c.765G>A, XM_011521351.1:c.765G>A, XM_011521352.3:c.729G>A, XM_011521352.2:c.729G>A, XM_011521352.1:c.729G>A, XM_011521353.3:c.660G>A, XM_011521353.2:c.660G>A, XM_011521353.1:c.660G>A, XM_005254225.2:c.570G>A, XM_005254225.1:c.570G>A, XM_011521354.2:c.210G>A, XM_011521354.1:c.210G>A

Select item 14765458187.

rs1476545818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 15:43215302 (GRCh38)
15:43507500 (GRCh37)
Canonical SPDI:: NC_000015.10:43215301:T:A,NC_000015.10:43215301:T:G
Gene:: EPB42 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_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)
G=0.003275/6 (Korea1K)
HGVS:: NC_000015.10:g.43215302T>A, NC_000015.10:g.43215302T>G, NC_000015.9:g.43507500T>A, NC_000015.9:g.43507500T>G, NG_011505.2:g.15555A>T, NG_011505.2:g.15555A>C, NM_000119.3:c.313A>T, NM_000119.3:c.313A>C, NM_000119.2:c.313A>T, NM_000119.2:c.313A>C, NM_001114134.2:c.223A>T, NM_001114134.2:c.223A>C, NM_001114134.1:c.223A>T, NM_001114134.1:c.223A>C, XM_011521350.3:c.313A>T, XM_011521350.3:c.313A>C, XM_011521350.2:c.313A>T, XM_011521350.2:c.313A>C, XM_011521350.1:c.313A>T, XM_011521350.1:c.313A>C, XM_011521351.3:c.313A>T, XM_011521351.3:c.313A>C, XM_011521351.2:c.313A>T, XM_011521351.2:c.313A>C, XM_011521351.1:c.313A>T, XM_011521351.1:c.313A>C, XM_011521352.3:c.313A>T, XM_011521352.3:c.313A>C, XM_011521352.2:c.313A>T, XM_011521352.2:c.313A>C, XM_011521352.1:c.313A>T, XM_011521352.1:c.313A>C, XM_011521353.3:c.313A>T, XM_011521353.3:c.313A>C, XM_011521353.2:c.313A>T, XM_011521353.2:c.313A>C, XM_011521353.1:c.313A>T, XM_011521353.1:c.313A>C, XM_005254225.2:c.223A>T, XM_005254225.2:c.223A>C, XM_005254225.1:c.223A>T, XM_005254225.1:c.223A>C, NP_000110.2:p.Thr105Ser, NP_000110.2:p.Thr105Pro, NP_001107606.1:p.Thr75Ser, NP_001107606.1:p.Thr75Pro, XP_011519652.1:p.Thr105Ser, XP_011519652.1:p.Thr105Pro, XP_011519653.1:p.Thr105Ser, XP_011519653.1:p.Thr105Pro, XP_011519654.1:p.Thr105Ser, XP_011519654.1:p.Thr105Pro, XP_011519655.1:p.Thr105Ser, XP_011519655.1:p.Thr105Pro, XP_005254282.1:p.Thr75Ser, XP_005254282.1:p.Thr75Pro

Select item 14725916018.

rs1472591601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:43216448 (GRCh38)
15:43508646 (GRCh37)
Canonical SPDI:: NC_000015.10:43216447:C:G
Gene:: EPB42 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43216448C>G, NC_000015.9:g.43508646C>G, NG_011505.2:g.14409G>C, NM_000119.3:c.106G>C, NM_000119.2:c.106G>C, NM_001114134.2:c.16G>C, NM_001114134.1:c.16G>C, XM_011521350.3:c.106G>C, XM_011521350.2:c.106G>C, XM_011521350.1:c.106G>C, XM_011521351.3:c.106G>C, XM_011521351.2:c.106G>C, XM_011521351.1:c.106G>C, XM_011521352.3:c.106G>C, XM_011521352.2:c.106G>C, XM_011521352.1:c.106G>C, XM_011521353.3:c.106G>C, XM_011521353.2:c.106G>C, XM_011521353.1:c.106G>C, XM_005254225.2:c.16G>C, XM_005254225.1:c.16G>C, NP_000110.2:p.Gly36Arg, NP_001107606.1:p.Gly6Arg, XP_011519652.1:p.Gly36Arg, XP_011519653.1:p.Gly36Arg, XP_011519654.1:p.Gly36Arg, XP_011519655.1:p.Gly36Arg, XP_005254282.1:p.Gly6Arg

Select item 14705641439.

rs1470564143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43215251 (GRCh38)
15:43507449 (GRCh37)
Canonical SPDI:: NC_000015.10:43215250:C:T
Gene:: EPB42 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43215251C>T, NC_000015.9:g.43507449C>T, NG_011505.2:g.15606G>A, NM_000119.3:c.364G>A, NM_000119.2:c.364G>A, NM_001114134.2:c.274G>A, NM_001114134.1:c.274G>A, XM_011521350.3:c.364G>A, XM_011521350.2:c.364G>A, XM_011521350.1:c.364G>A, XM_011521351.3:c.364G>A, XM_011521351.2:c.364G>A, XM_011521351.1:c.364G>A, XM_011521352.3:c.364G>A, XM_011521352.2:c.364G>A, XM_011521352.1:c.364G>A, XM_011521353.3:c.364G>A, XM_011521353.2:c.364G>A, XM_011521353.1:c.364G>A, XM_005254225.2:c.274G>A, XM_005254225.1:c.274G>A, NP_000110.2:p.Ala122Thr, NP_001107606.1:p.Ala92Thr, XP_011519652.1:p.Ala122Thr, XP_011519653.1:p.Ala122Thr, XP_011519654.1:p.Ala122Thr, XP_011519655.1:p.Ala122Thr, XP_005254282.1:p.Ala92Thr

Select item 147034583710.

rs1470345837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43215156 (GRCh38)
15:43507354 (GRCh37)
Canonical SPDI:: NC_000015.10:43215155:G:A
Gene:: EPB42 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43215156G>A, NC_000015.9:g.43507354G>A, NG_011505.2:g.15701C>T, NM_000119.3:c.459C>T, NM_000119.2:c.459C>T, NM_001114134.2:c.369C>T, NM_001114134.1:c.369C>T, XM_011521350.3:c.459C>T, XM_011521350.2:c.459C>T, XM_011521350.1:c.459C>T, XM_011521351.3:c.459C>T, XM_011521351.2:c.459C>T, XM_011521351.1:c.459C>T, XM_011521352.3:c.459C>T, XM_011521352.2:c.459C>T, XM_011521352.1:c.459C>T, XM_011521353.3:c.459C>T, XM_011521353.2:c.459C>T, XM_011521353.1:c.459C>T, XM_005254225.2:c.369C>T, XM_005254225.1:c.369C>T

Select item 146842635811.

rs1468426358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43207341 (GRCh38)
15:43499539 (GRCh37)
Canonical SPDI:: NC_000015.10:43207340:T:C
Gene:: EPB42 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43207341T>C, NC_000015.9:g.43499539T>C, NG_011505.2:g.23516A>G, NM_000119.3:c.1266A>G, NM_000119.2:c.1266A>G, NM_001114134.2:c.1176A>G, NM_001114134.1:c.1176A>G, XM_011521350.3:c.1266A>G, XM_011521350.2:c.1266A>G, XM_011521350.1:c.1266A>G, XM_011521351.3:c.1266A>G, XM_011521351.2:c.1266A>G, XM_011521351.1:c.1266A>G, XM_011521352.3:c.1230A>G, XM_011521352.2:c.1230A>G, XM_011521352.1:c.1230A>G, XM_011521353.3:c.1161A>G, XM_011521353.2:c.1161A>G, XM_011521353.1:c.1161A>G, XM_005254225.2:c.1071A>G, XM_005254225.1:c.1071A>G, XM_011521354.2:c.711A>G, XM_011521354.1:c.711A>G

Select item 146763431912.

rs1467634319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43206530 (GRCh38)
15:43498728 (GRCh37)
Canonical SPDI:: NC_000015.10:43206529:C:T
Gene:: EPB42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43206530C>T, NC_000015.9:g.43498728C>T, NG_011505.2:g.24327G>A, NM_000119.3:c.1508G>A, NM_000119.2:c.1508G>A, NM_001114134.2:c.1418G>A, NM_001114134.1:c.1418G>A, XM_011521350.3:c.1508G>A, XM_011521350.2:c.1508G>A, XM_011521350.1:c.1508G>A, XM_011521351.3:c.1508G>A, XM_011521351.2:c.1508G>A, XM_011521351.1:c.1508G>A, XM_011521352.3:c.1472G>A, XM_011521352.2:c.1472G>A, XM_011521352.1:c.1472G>A, XM_011521353.3:c.1403G>A, XM_011521353.2:c.1403G>A, XM_011521353.1:c.1403G>A, XM_005254225.2:c.1313G>A, XM_005254225.1:c.1313G>A, XM_011521354.2:c.953G>A, XM_011521354.1:c.953G>A, NP_000110.2:p.Ser503Asn, NP_001107606.1:p.Ser473Asn, XP_011519652.1:p.Ser503Asn, XP_011519653.1:p.Ser503Asn, XP_011519654.1:p.Ser491Asn, XP_011519655.1:p.Ser468Asn, XP_005254282.1:p.Ser438Asn, XP_011519656.1:p.Ser318Asn

Select item 146519767313.

rs1465197673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43216322 (GRCh38)
15:43508520 (GRCh37)
Canonical SPDI:: NC_000015.10:43216321:G:A
Gene:: EPB42 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43216322G>A, NC_000015.9:g.43508520G>A, NG_011505.2:g.14535C>T, NM_000119.3:c.232C>T, NM_000119.2:c.232C>T, NM_001114134.2:c.142C>T, NM_001114134.1:c.142C>T, XM_011521350.3:c.232C>T, XM_011521350.2:c.232C>T, XM_011521350.1:c.232C>T, XM_011521351.3:c.232C>T, XM_011521351.2:c.232C>T, XM_011521351.1:c.232C>T, XM_011521352.3:c.232C>T, XM_011521352.2:c.232C>T, XM_011521352.1:c.232C>T, XM_011521353.3:c.232C>T, XM_011521353.2:c.232C>T, XM_011521353.1:c.232C>T, XM_005254225.2:c.142C>T, XM_005254225.1:c.142C>T, NP_000110.2:p.Pro78Ser, NP_001107606.1:p.Pro48Ser, XP_011519652.1:p.Pro78Ser, XP_011519653.1:p.Pro78Ser, XP_011519654.1:p.Pro78Ser, XP_011519655.1:p.Pro78Ser, XP_005254282.1:p.Pro48Ser

Select item 146495747514.

rs1464957475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:43216338 (GRCh38)
15:43508536 (GRCh37)
Canonical SPDI:: NC_000015.10:43216337:G:A,NC_000015.10:43216337:G:T
Gene:: EPB42 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000015.10:g.43216338G>A, NC_000015.10:g.43216338G>T, NC_000015.9:g.43508536G>A, NC_000015.9:g.43508536G>T, NG_011505.2:g.14519C>T, NG_011505.2:g.14519C>A, NM_000119.3:c.216C>T, NM_000119.3:c.216C>A, NM_000119.2:c.216C>T, NM_000119.2:c.216C>A, NM_001114134.2:c.126C>T, NM_001114134.2:c.126C>A, NM_001114134.1:c.126C>T, NM_001114134.1:c.126C>A, XM_011521350.3:c.216C>T, XM_011521350.3:c.216C>A, XM_011521350.2:c.216C>T, XM_011521350.2:c.216C>A, XM_011521350.1:c.216C>T, XM_011521350.1:c.216C>A, XM_011521351.3:c.216C>T, XM_011521351.3:c.216C>A, XM_011521351.2:c.216C>T, XM_011521351.2:c.216C>A, XM_011521351.1:c.216C>T, XM_011521351.1:c.216C>A, XM_011521352.3:c.216C>T, XM_011521352.3:c.216C>A, XM_011521352.2:c.216C>T, XM_011521352.2:c.216C>A, XM_011521352.1:c.216C>T, XM_011521352.1:c.216C>A, XM_011521353.3:c.216C>T, XM_011521353.3:c.216C>A, XM_011521353.2:c.216C>T, XM_011521353.2:c.216C>A, XM_011521353.1:c.216C>T, XM_011521353.1:c.216C>A, XM_005254225.2:c.126C>T, XM_005254225.2:c.126C>A, XM_005254225.1:c.126C>T, XM_005254225.1:c.126C>A

Select item 146151908615.

rs1461519086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43210340 (GRCh38)
15:43502538 (GRCh37)
Canonical SPDI:: NC_000015.10:43210339:C:T
Gene:: EPB42 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43210340C>T, NC_000015.9:g.43502538C>T, NG_011505.2:g.20517G>A, NM_000119.3:c.739G>A, NM_000119.2:c.739G>A, NM_001114134.2:c.649G>A, NM_001114134.1:c.649G>A, XM_011521350.3:c.739G>A, XM_011521350.2:c.739G>A, XM_011521350.1:c.739G>A, XM_011521351.3:c.739G>A, XM_011521351.2:c.739G>A, XM_011521351.1:c.739G>A, XM_011521352.3:c.703G>A, XM_011521352.2:c.703G>A, XM_011521352.1:c.703G>A, XM_011521354.2:c.184G>A, XM_011521354.1:c.184G>A, NP_000110.2:p.Ala247Thr, NP_001107606.1:p.Ala217Thr, XP_011519652.1:p.Ala247Thr, XP_011519653.1:p.Ala247Thr, XP_011519654.1:p.Ala235Thr, XP_011519656.1:p.Ala62Thr

Select item 146132224616.

rs1461322246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43197369 (GRCh38)
15:43489567 (GRCh37)
Canonical SPDI:: NC_000015.10:43197368:C:T
Gene:: EPB42 (Varview), CCNDBP1 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.43197369C>T, NC_000015.9:g.43489567C>T, NG_011505.2:g.33488G>A, NM_000119.3:c.2099G>A, NM_000119.2:c.2099G>A, NM_001114134.2:c.2009G>A, NM_001114134.1:c.2009G>A, XM_011521350.3:c.2099G>A, XM_011521350.2:c.2099G>A, XM_011521350.1:c.2099G>A, XM_011521351.3:c.2099G>A, XM_011521351.2:c.2099G>A, XM_011521351.1:c.2099G>A, XM_011521352.3:c.2063G>A, XM_011521352.2:c.2063G>A, XM_011521352.1:c.2063G>A, XM_011521353.3:c.1994G>A, XM_011521353.2:c.1994G>A, XM_011521353.1:c.1994G>A, XM_005254225.2:c.1904G>A, XM_005254225.1:c.1904G>A, XM_011521354.2:c.1544G>A, XM_011521354.1:c.1544G>A, NP_000110.2:p.Cys700Tyr, NP_001107606.1:p.Cys670Tyr, XP_011519652.1:p.Cys700Tyr, XP_011519653.1:p.Cys700Tyr, XP_011519654.1:p.Cys688Tyr, XP_011519655.1:p.Cys665Tyr, XP_005254282.1:p.Cys635Tyr, XP_011519656.1:p.Cys515Tyr

Select item 146066697517.

rs1460666975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43209366 (GRCh38)
15:43501564 (GRCh37)
Canonical SPDI:: NC_000015.10:43209365:C:T
Gene:: EPB42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.43209366C>T, NC_000015.9:g.43501564C>T, NG_011505.2:g.21491G>A, NM_000119.3:c.830G>A, NM_000119.2:c.830G>A, NM_001114134.2:c.740G>A, NM_001114134.1:c.740G>A, XM_011521350.3:c.830G>A, XM_011521350.2:c.830G>A, XM_011521350.1:c.830G>A, XM_011521351.3:c.830G>A, XM_011521351.2:c.830G>A, XM_011521351.1:c.830G>A, XM_011521352.3:c.794G>A, XM_011521352.2:c.794G>A, XM_011521352.1:c.794G>A, XM_011521353.3:c.725G>A, XM_011521353.2:c.725G>A, XM_011521353.1:c.725G>A, XM_005254225.2:c.635G>A, XM_005254225.1:c.635G>A, XM_011521354.2:c.275G>A, XM_011521354.1:c.275G>A, NP_000110.2:p.Gly277Asp, NP_001107606.1:p.Gly247Asp, XP_011519652.1:p.Gly277Asp, XP_011519653.1:p.Gly277Asp, XP_011519654.1:p.Gly265Asp, XP_011519655.1:p.Gly242Asp, XP_005254282.1:p.Gly212Asp, XP_011519656.1:p.Gly92Asp

Select item 146064075718.

rs1460640757 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43208696 (GRCh38)
15:43500894 (GRCh37)
Canonical SPDI:: NC_000015.10:43208695:T:C
Gene:: EPB42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43208696T>C, NC_000015.9:g.43500894T>C, NG_011505.2:g.22161A>G, NM_000119.3:c.1002A>G, NM_000119.2:c.1002A>G, NM_001114134.2:c.912A>G, NM_001114134.1:c.912A>G, XM_011521350.3:c.1002A>G, XM_011521350.2:c.1002A>G, XM_011521350.1:c.1002A>G, XM_011521351.3:c.1002A>G, XM_011521351.2:c.1002A>G, XM_011521351.1:c.1002A>G, XM_011521352.3:c.966A>G, XM_011521352.2:c.966A>G, XM_011521352.1:c.966A>G, XM_011521353.3:c.897A>G, XM_011521353.2:c.897A>G, XM_011521353.1:c.897A>G, XM_005254225.2:c.807A>G, XM_005254225.1:c.807A>G, XM_011521354.2:c.447A>G, XM_011521354.1:c.447A>G, NP_000110.2:p.Ile334Met, NP_001107606.1:p.Ile304Met, XP_011519652.1:p.Ile334Met, XP_011519653.1:p.Ile334Met, XP_011519654.1:p.Ile322Met, XP_011519655.1:p.Ile299Met, XP_005254282.1:p.Ile269Met, XP_011519656.1:p.Ile149Met

Select item 145929030719.

rs1459290307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:43206348 (GRCh38)
15:43498546 (GRCh37)
Canonical SPDI:: NC_000015.10:43206347:T:C,NC_000015.10:43206347:T:G
Gene:: EPB42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.43206348T>C, NC_000015.10:g.43206348T>G, NC_000015.9:g.43498546T>C, NC_000015.9:g.43498546T>G, NG_011505.2:g.24509A>G, NG_011505.2:g.24509A>C, NM_000119.3:c.1690A>G, NM_000119.3:c.1690A>C, NM_000119.2:c.1690A>G, NM_000119.2:c.1690A>C, NM_001114134.2:c.1600A>G, NM_001114134.2:c.1600A>C, NM_001114134.1:c.1600A>G, NM_001114134.1:c.1600A>C, XM_011521350.3:c.1690A>G, XM_011521350.3:c.1690A>C, XM_011521350.2:c.1690A>G, XM_011521350.2:c.1690A>C, XM_011521350.1:c.1690A>G, XM_011521350.1:c.1690A>C, XM_011521351.3:c.1690A>G, XM_011521351.3:c.1690A>C, XM_011521351.2:c.1690A>G, XM_011521351.2:c.1690A>C, XM_011521351.1:c.1690A>G, XM_011521351.1:c.1690A>C, XM_011521352.3:c.1654A>G, XM_011521352.3:c.1654A>C, XM_011521352.2:c.1654A>G, XM_011521352.2:c.1654A>C, XM_011521352.1:c.1654A>G, XM_011521352.1:c.1654A>C, XM_011521353.3:c.1585A>G, XM_011521353.3:c.1585A>C, XM_011521353.2:c.1585A>G, XM_011521353.2:c.1585A>C, XM_011521353.1:c.1585A>G, XM_011521353.1:c.1585A>C, XM_005254225.2:c.1495A>G, XM_005254225.2:c.1495A>C, XM_005254225.1:c.1495A>G, XM_005254225.1:c.1495A>C, XM_011521354.2:c.1135A>G, XM_011521354.2:c.1135A>C, XM_011521354.1:c.1135A>G, XM_011521354.1:c.1135A>C, NP_000110.2:p.Thr564Ala, NP_000110.2:p.Thr564Pro, NP_001107606.1:p.Thr534Ala, NP_001107606.1:p.Thr534Pro, XP_011519652.1:p.Thr564Ala, XP_011519652.1:p.Thr564Pro, XP_011519653.1:p.Thr564Ala, XP_011519653.1:p.Thr564Pro, XP_011519654.1:p.Thr552Ala, XP_011519654.1:p.Thr552Pro, XP_011519655.1:p.Thr529Ala, XP_011519655.1:p.Thr529Pro, XP_005254282.1:p.Thr499Ala, XP_005254282.1:p.Thr499Pro, XP_011519656.1:p.Thr379Ala, XP_011519656.1:p.Thr379Pro

Select item 145796952520.

rs1457969525 [Homo sapiens]

Variant type:: DEL
Alleles:: ACTG>- [Show Flanks]
Chromosome:: 15:43201956 (GRCh38)
15:43494154 (GRCh37)
Canonical SPDI:: NC_000015.10:43201955:ACTG:
Gene:: EPB42 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.43201956_43201959del, NC_000015.9:g.43494154_43494157del, NG_011505.2:g.28898_28901del, NM_000119.3:c.1888_1891del, NM_000119.2:c.1888_1891del, NM_001114134.2:c.1798_1801del, NM_001114134.1:c.1798_1801del, XM_011521350.3:c.1888_1891del, XM_011521350.2:c.1888_1891del, XM_011521350.1:c.1888_1891del, XM_011521351.3:c.1888_1891del, XM_011521351.2:c.1888_1891del, XM_011521351.1:c.1888_1891del, XM_011521352.3:c.1852_1855del, XM_011521352.2:c.1852_1855del, XM_011521352.1:c.1852_1855del, XM_011521353.3:c.1783_1786del, XM_011521353.2:c.1783_1786del, XM_011521353.1:c.1783_1786del, XM_005254225.2:c.1693_1696del, XM_005254225.1:c.1693_1696del, XM_011521354.2:c.1333_1336del, XM_011521354.1:c.1333_1336del, NP_000110.2:p.Gln630fs, NP_001107606.1:p.Gln600fs, XP_011519652.1:p.Gln630fs, XP_011519653.1:p.Gln630fs, XP_011519654.1:p.Gln618fs, XP_011519655.1:p.Gln595fs, XP_005254282.1:p.Gln565fs, XP_011519656.1:p.Gln445fs

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