SNP Links for Protein (Select 1057866493) - SNP

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Links from Protein

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Select item 14904397511.

rs1490439751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:120090348 (GRCh38)
2:120847924 (GRCh37)
Canonical SPDI:: NC_000002.12:120090347:G:A
Gene:: EPB41L5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.120090348G>A, NC_000002.11:g.120847924G>A, NM_020909.4:c.875G>A, NM_020909.3:c.875G>A, NM_001184938.4:c.875G>A, NM_001184938.3:c.875G>A, NM_001184938.2:c.875G>A, NM_001184938.1:c.875G>A, NR_135920.3:n.1017G>A, NR_135920.2:n.1066G>A, NR_135920.1:n.1066G>A, NM_001184939.3:c.875G>A, NM_001184939.2:c.875G>A, NM_001184939.1:c.875G>A, XM_006712651.2:c.875G>A, XM_006712651.1:c.875G>A, NM_001330310.2:c.875G>A, NM_001330310.1:c.875G>A, NM_001184937.2:c.875G>A, NM_001184937.1:c.875G>A, XM_006712653.2:c.659G>A, XM_006712653.1:c.659G>A, NR_138472.2:n.1017G>A, NR_138472.1:n.1066G>A, NM_001330307.2:c.659G>A, NM_001330307.1:c.659G>A, XM_047445208.1:c.875G>A, XM_047445210.1:c.875G>A, XM_017004567.1:c.875G>A, NP_065960.2:p.Gly292Asp, NP_001171867.1:p.Gly292Asp, NP_001171868.1:p.Gly292Asp, XP_006712714.1:p.Gly292Asp, NP_001317239.1:p.Gly292Asp, NP_001171866.1:p.Gly292Asp, XP_006712716.1:p.Gly220Asp, NP_001317236.1:p.Gly220Asp, XP_047301164.1:p.Gly292Asp, XP_047301166.1:p.Gly292Asp, XP_016860056.1:p.Gly292Asp

Select item 14879690212.

rs1487969021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:120143091 (GRCh38)
2:120900667 (GRCh37)
Canonical SPDI:: NC_000002.12:120143090:A:G
Gene:: EPB41L5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.120143091A>G, NC_000002.11:g.120900667A>G, NM_020909.4:c.1688A>G, NM_020909.3:c.1688A>G, XM_006712651.2:c.1688A>G, XM_006712651.1:c.1688A>G, NM_001330310.2:c.1688A>G, NM_001330310.1:c.1688A>G, NM_001184937.2:c.1688A>G, NM_001184937.1:c.1688A>G, XM_006712653.2:c.1472A>G, XM_006712653.1:c.1472A>G, XM_047445208.1:c.1688A>G, XM_047445210.1:c.1688A>G, XM_017004567.1:c.1688A>G, NP_065960.2:p.Lys563Arg, XP_006712714.1:p.Lys563Arg, NP_001317239.1:p.Lys563Arg, NP_001171866.1:p.Lys563Arg, XP_006712716.1:p.Lys491Arg, XP_047301164.1:p.Lys563Arg, XP_047301166.1:p.Lys563Arg, XP_016860056.1:p.Lys563Arg

Select item 14875909733.

rs1487590973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:120160896 (GRCh38)
2:120918472 (GRCh37)
Canonical SPDI:: NC_000002.12:120160895:G:C
Gene:: EPB41L5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.120160896G>C, NC_000002.11:g.120918472G>C, NM_020909.4:c.1809G>C, NM_020909.3:c.1809G>C, XM_006712651.2:c.1809G>C, XM_006712651.1:c.1809G>C, NM_001330310.2:c.1809G>C, NM_001330310.1:c.1809G>C, NM_001184937.2:c.1809G>C, NM_001184937.1:c.1809G>C, XM_006712653.2:c.1593G>C, XM_006712653.1:c.1593G>C, XM_047445208.1:c.1809G>C, XM_047445210.1:c.1809G>C, XM_017004567.1:c.1809G>C, NP_065960.2:p.Glu603Asp, XP_006712714.1:p.Glu603Asp, NP_001317239.1:p.Glu603Asp, NP_001171866.1:p.Glu603Asp, XP_006712716.1:p.Glu531Asp, XP_047301164.1:p.Glu603Asp, XP_047301166.1:p.Glu603Asp, XP_016860056.1:p.Glu603Asp

Select item 14850282424.

rs1485028242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:120100277 (GRCh38)
2:120857853 (GRCh37)
Canonical SPDI:: NC_000002.12:120100276:C:T
Gene:: EPB41L5 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.120100277C>T, NC_000002.11:g.120857853C>T, NM_020909.4:c.1212C>T, NM_020909.3:c.1212C>T, NM_001184938.4:c.1212C>T, NM_001184938.3:c.1212C>T, NM_001184938.2:c.1212C>T, NM_001184938.1:c.1212C>T, NR_135920.3:n.1354C>T, NR_135920.2:n.1403C>T, NR_135920.1:n.1403C>T, NM_001184939.3:c.1212C>T, NM_001184939.2:c.1212C>T, NM_001184939.1:c.1212C>T, XM_006712651.2:c.1212C>T, XM_006712651.1:c.1212C>T, NM_001330310.2:c.1212C>T, NM_001330310.1:c.1212C>T, NM_001184937.2:c.1212C>T, NM_001184937.1:c.1212C>T, XM_006712653.2:c.996C>T, XM_006712653.1:c.996C>T, NR_138472.2:n.1354C>T, NR_138472.1:n.1403C>T, NM_001330307.2:c.996C>T, NM_001330307.1:c.996C>T, XM_047445208.1:c.1212C>T, XM_047445210.1:c.1212C>T, XM_017004567.1:c.1212C>T

Select item 14839074315.

rs1483907431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:120019232 (GRCh38)
2:120776808 (GRCh37)
Canonical SPDI:: NC_000002.12:120019231:C:G
Gene:: EPB41L5 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.120019232C>G, NC_000002.11:g.120776808C>G, NM_020909.4:c.148C>G, NM_020909.3:c.148C>G, NM_001184938.4:c.148C>G, NM_001184938.3:c.148C>G, NM_001184938.2:c.148C>G, NM_001184938.1:c.148C>G, NR_135920.3:n.290C>G, NR_135920.2:n.339C>G, NR_135920.1:n.339C>G, NM_001184939.3:c.148C>G, NM_001184939.2:c.148C>G, NM_001184939.1:c.148C>G, XM_006712651.2:c.148C>G, XM_006712651.1:c.148C>G, NM_001330310.2:c.148C>G, NM_001330310.1:c.148C>G, NM_001184937.2:c.148C>G, NM_001184937.1:c.148C>G, XM_006712653.2:c.-73C>G, XM_006712653.1:c.-73C>G, NR_138472.2:n.290C>G, NR_138472.1:n.339C>G, NM_001330307.2:c.-73C>G, NM_001330307.1:c.-73C>G, XM_047445208.1:c.148C>G, XM_047445210.1:c.148C>G, XM_017004567.1:c.148C>G, NP_065960.2:p.Leu50Val, NP_001171867.1:p.Leu50Val, NP_001171868.1:p.Leu50Val, XP_006712714.1:p.Leu50Val, NP_001317239.1:p.Leu50Val, NP_001171866.1:p.Leu50Val, XP_047301164.1:p.Leu50Val, XP_047301166.1:p.Leu50Val, XP_016860056.1:p.Leu50Val

Select item 14836906046.

rs1483690604 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:120160933 (GRCh38)
2:120918509 (GRCh37)
Canonical SPDI:: NC_000002.12:120160930:CTCT:CT
Gene:: EPB41L5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.120160931CT[1], NC_000002.11:g.120918507CT[1], NM_020909.4:c.1846_1847del, NM_020909.3:c.1846_1847del, XM_006712651.2:c.1846_1847del, XM_006712651.1:c.1846_1847del, NM_001330310.2:c.1846_1847del, NM_001330310.1:c.1846_1847del, NM_001184937.2:c.1846_1847del, NM_001184937.1:c.1846_1847del, XM_006712653.2:c.1630_1631del, XM_006712653.1:c.1630_1631del, XM_047445208.1:c.1846_1847del, XM_047445210.1:c.1846_1847del, XM_017004567.1:c.1846_1847del, NP_065960.2:p.Leu616fs, XP_006712714.1:p.Leu616fs, NP_001317239.1:p.Leu616fs, NP_001171866.1:p.Leu616fs, XP_006712716.1:p.Leu544fs, XP_047301164.1:p.Leu616fs, XP_047301166.1:p.Leu616fs, XP_016860056.1:p.Leu616fs

Select item 14823168657.

rs1482316865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:120019111 (GRCh38)
2:120776687 (GRCh37)
Canonical SPDI:: NC_000002.12:120019110:A:G
Gene:: EPB41L5 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.120019111A>G, NC_000002.11:g.120776687A>G, NM_020909.4:c.27A>G, NM_020909.3:c.27A>G, NM_001184938.4:c.27A>G, NM_001184938.3:c.27A>G, NM_001184938.2:c.27A>G, NM_001184938.1:c.27A>G, NR_135920.3:n.169A>G, NR_135920.2:n.218A>G, NR_135920.1:n.218A>G, NM_001184939.3:c.27A>G, NM_001184939.2:c.27A>G, NM_001184939.1:c.27A>G, XM_006712651.2:c.27A>G, XM_006712651.1:c.27A>G, NM_001330310.2:c.27A>G, NM_001330310.1:c.27A>G, NM_001184937.2:c.27A>G, NM_001184937.1:c.27A>G, NR_138472.2:n.169A>G, NR_138472.1:n.218A>G, NM_001330307.2:c.-194A>G, NM_001330307.1:c.-194A>G, XM_047445208.1:c.27A>G, XM_047445210.1:c.27A>G, XM_017004567.1:c.27A>G

Select item 14789897688.

rs1478989768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:120167897 (GRCh38)
2:120925473 (GRCh37)
Canonical SPDI:: NC_000002.12:120167896:T:C
Gene:: EPB41L5 (Varview), LOC105373582 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.120167897T>C, NC_000002.11:g.120925473T>C, NM_020909.4:c.2025T>C, NM_020909.3:c.2025T>C, XR_923257.4:n.1090A>G, XR_923257.3:n.1098A>G, XR_923257.2:n.1098A>G, XM_006712651.2:c.2046T>C, XM_006712651.1:c.2046T>C, NM_001330310.2:c.2022T>C, NM_001330310.1:c.2022T>C, XM_006712653.2:c.1830T>C, XM_006712653.1:c.1830T>C, XR_007087216.1:n.4376A>G, XM_047445208.1:c.2046T>C, XM_047445210.1:c.2025T>C, XM_017004567.1:c.2046T>C

Select item 14780719149.

rs1478071914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:120167889 (GRCh38)
2:120925465 (GRCh37)
Canonical SPDI:: NC_000002.12:120167888:A:G
Gene:: EPB41L5 (Varview), LOC105373582 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000066/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.120167889A>G, NC_000002.11:g.120925465A>G, NM_020909.4:c.2017A>G, NM_020909.3:c.2017A>G, XR_923257.4:n.1098T>C, XR_923257.3:n.1106T>C, XR_923257.2:n.1106T>C, XM_006712651.2:c.2038A>G, XM_006712651.1:c.2038A>G, NM_001330310.2:c.2014A>G, NM_001330310.1:c.2014A>G, XM_006712653.2:c.1822A>G, XM_006712653.1:c.1822A>G, XR_007087216.1:n.4384T>C, XM_047445208.1:c.2038A>G, XM_047445210.1:c.2017A>G, XM_017004567.1:c.2038A>G, NP_065960.2:p.Met673Val, XP_006712714.1:p.Met680Val, NP_001317239.1:p.Met672Val, XP_006712716.1:p.Met608Val, XP_047301164.1:p.Met680Val, XP_047301166.1:p.Met673Val, XP_016860056.1:p.Met680Val

Select item 147712529410.

rs1477125294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:120127759 (GRCh38)
2:120885335 (GRCh37)
Canonical SPDI:: NC_000002.12:120127758:C:A
Gene:: EPB41L5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.120127759C>A, NC_000002.11:g.120885335C>A, NM_020909.4:c.1409C>A, NM_020909.3:c.1409C>A, XM_006712651.2:c.1409C>A, XM_006712651.1:c.1409C>A, NM_001330310.2:c.1409C>A, NM_001330310.1:c.1409C>A, NM_001184937.2:c.1409C>A, NM_001184937.1:c.1409C>A, XM_006712653.2:c.1193C>A, XM_006712653.1:c.1193C>A, XM_047445208.1:c.1409C>A, XM_047445210.1:c.1409C>A, XM_017004567.1:c.1409C>A, NP_065960.2:p.Ala470Glu, XP_006712714.1:p.Ala470Glu, NP_001317239.1:p.Ala470Glu, NP_001171866.1:p.Ala470Glu, XP_006712716.1:p.Ala398Glu, XP_047301164.1:p.Ala470Glu, XP_047301166.1:p.Ala470Glu, XP_016860056.1:p.Ala470Glu

Select item 147652273611.

rs1476522736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:120174889 (GRCh38)
2:120932465 (GRCh37)
Canonical SPDI:: NC_000002.12:120174888:A:C
Gene:: EPB41L5 (Varview), LOC105373582 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_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.120174889A>C, NC_000002.11:g.120932465A>C, NM_020909.4:c.2184A>C, NM_020909.3:c.2184A>C, XM_006712651.2:c.2205A>C, XM_006712651.1:c.2205A>C, NM_001330310.2:c.2181A>C, NM_001330310.1:c.2181A>C, NM_001184937.2:c.2053A>C, NM_001184937.1:c.2053A>C, XM_006712653.2:c.1989A>C, XM_006712653.1:c.1989A>C, XM_047445208.1:c.2205A>C, XM_047445210.1:c.2184A>C, XM_017004567.1:c.2205A>C, NP_065960.2:p.Leu728Phe, XP_006712714.1:p.Leu735Phe, NP_001317239.1:p.Leu727Phe, NP_001171866.1:p.Thr685Pro, XP_006712716.1:p.Leu663Phe, XP_047301164.1:p.Leu735Phe, XP_047301166.1:p.Leu728Phe, XP_016860056.1:p.Leu735Phe

Select item 147585695312.

rs1475856953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:120042063 (GRCh38)
2:120799639 (GRCh37)
Canonical SPDI:: NC_000002.12:120042062:G:C
Gene:: EPB41L5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.120042063G>C, NC_000002.11:g.120799639G>C, NM_020909.4:c.238G>C, NM_020909.3:c.238G>C, NM_001184938.4:c.238G>C, NM_001184938.3:c.238G>C, NM_001184938.2:c.238G>C, NM_001184938.1:c.238G>C, NR_135920.3:n.380G>C, NR_135920.2:n.429G>C, NR_135920.1:n.429G>C, NM_001184939.3:c.238G>C, NM_001184939.2:c.238G>C, NM_001184939.1:c.238G>C, XM_006712651.2:c.238G>C, XM_006712651.1:c.238G>C, NM_001330310.2:c.238G>C, NM_001330310.1:c.238G>C, NM_001184937.2:c.238G>C, NM_001184937.1:c.238G>C, XM_006712653.2:c.22G>C, XM_006712653.1:c.22G>C, NR_138472.2:n.380G>C, NR_138472.1:n.429G>C, NM_001330307.2:c.22G>C, NM_001330307.1:c.22G>C, XM_047445208.1:c.238G>C, XM_047445210.1:c.238G>C, XM_017004567.1:c.238G>C, NP_065960.2:p.Glu80Gln, NP_001171867.1:p.Glu80Gln, NP_001171868.1:p.Glu80Gln, XP_006712714.1:p.Glu80Gln, NP_001317239.1:p.Glu80Gln, NP_001171866.1:p.Glu80Gln, XP_006712716.1:p.Glu8Gln, NP_001317236.1:p.Glu8Gln, XP_047301164.1:p.Glu80Gln, XP_047301166.1:p.Glu80Gln, XP_016860056.1:p.Glu80Gln

Select item 147410275813.

rs1474102758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:120093276 (GRCh38)
2:120850852 (GRCh37)
Canonical SPDI:: NC_000002.12:120093275:G:C
Gene:: EPB41L5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.120093276G>C, NC_000002.11:g.120850852G>C, NM_020909.4:c.1178G>C, NM_020909.3:c.1178G>C, NM_001184938.4:c.1178G>C, NM_001184938.3:c.1178G>C, NM_001184938.2:c.1178G>C, NM_001184938.1:c.1178G>C, NR_135920.3:n.1320G>C, NR_135920.2:n.1369G>C, NR_135920.1:n.1369G>C, NM_001184939.3:c.1178G>C, NM_001184939.2:c.1178G>C, NM_001184939.1:c.1178G>C, XM_006712651.2:c.1178G>C, XM_006712651.1:c.1178G>C, NM_001330310.2:c.1178G>C, NM_001330310.1:c.1178G>C, NM_001184937.2:c.1178G>C, NM_001184937.1:c.1178G>C, XM_006712653.2:c.962G>C, XM_006712653.1:c.962G>C, NR_138472.2:n.1320G>C, NR_138472.1:n.1369G>C, NM_001330307.2:c.962G>C, NM_001330307.1:c.962G>C, XM_047445208.1:c.1178G>C, XM_047445210.1:c.1178G>C, XM_017004567.1:c.1178G>C, NP_065960.2:p.Ser393Thr, NP_001171867.1:p.Ser393Thr, NP_001171868.1:p.Ser393Thr, XP_006712714.1:p.Ser393Thr, NP_001317239.1:p.Ser393Thr, NP_001171866.1:p.Ser393Thr, XP_006712716.1:p.Ser321Thr, NP_001317236.1:p.Ser321Thr, XP_047301164.1:p.Ser393Thr, XP_047301166.1:p.Ser393Thr, XP_016860056.1:p.Ser393Thr

Select item 147245744314.

rs1472457443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:120090371 (GRCh38)
2:120847947 (GRCh37)
Canonical SPDI:: NC_000002.12:120090370:G:A
Gene:: EPB41L5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.120090371G>A, NC_000002.11:g.120847947G>A, NM_020909.4:c.898G>A, NM_020909.3:c.898G>A, NM_001184938.4:c.898G>A, NM_001184938.3:c.898G>A, NM_001184938.2:c.898G>A, NM_001184938.1:c.898G>A, NR_135920.3:n.1040G>A, NR_135920.2:n.1089G>A, NR_135920.1:n.1089G>A, NM_001184939.3:c.898G>A, NM_001184939.2:c.898G>A, NM_001184939.1:c.898G>A, XM_006712651.2:c.898G>A, XM_006712651.1:c.898G>A, NM_001330310.2:c.898G>A, NM_001330310.1:c.898G>A, NM_001184937.2:c.898G>A, NM_001184937.1:c.898G>A, XM_006712653.2:c.682G>A, XM_006712653.1:c.682G>A, NR_138472.2:n.1040G>A, NR_138472.1:n.1089G>A, NM_001330307.2:c.682G>A, NM_001330307.1:c.682G>A, XM_047445208.1:c.898G>A, XM_047445210.1:c.898G>A, XM_017004567.1:c.898G>A, NP_065960.2:p.Val300Ile, NP_001171867.1:p.Val300Ile, NP_001171868.1:p.Val300Ile, XP_006712714.1:p.Val300Ile, NP_001317239.1:p.Val300Ile, NP_001171866.1:p.Val300Ile, XP_006712716.1:p.Val228Ile, NP_001317236.1:p.Val228Ile, XP_047301164.1:p.Val300Ile, XP_047301166.1:p.Val300Ile, XP_016860056.1:p.Val300Ile

Select item 147126939015.

rs1471269390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:120074119 (GRCh38)
2:120831695 (GRCh37)
Canonical SPDI:: NC_000002.12:120074118:G:T
Gene:: EPB41L5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.120074119G>T, NC_000002.11:g.120831695G>T, NM_020909.4:c.348G>T, NM_020909.3:c.348G>T, NM_001184938.4:c.348G>T, NM_001184938.3:c.348G>T, NM_001184938.2:c.348G>T, NM_001184938.1:c.348G>T, NR_135920.3:n.490G>T, NR_135920.2:n.539G>T, NR_135920.1:n.539G>T, NM_001184939.3:c.348G>T, NM_001184939.2:c.348G>T, NM_001184939.1:c.348G>T, XM_006712651.2:c.348G>T, XM_006712651.1:c.348G>T, NM_001330310.2:c.348G>T, NM_001330310.1:c.348G>T, NM_001184937.2:c.348G>T, NM_001184937.1:c.348G>T, XM_006712653.2:c.132G>T, XM_006712653.1:c.132G>T, NR_138472.2:n.490G>T, NR_138472.1:n.539G>T, NM_001330307.2:c.132G>T, NM_001330307.1:c.132G>T, XM_047445208.1:c.348G>T, XM_047445210.1:c.348G>T, XM_017004567.1:c.348G>T

Select item 146977526516.

rs1469775265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:120131665 (GRCh38)
2:120889241 (GRCh37)
Canonical SPDI:: NC_000002.12:120131664:A:C,NC_000002.12:120131664:A:G
Gene:: EPB41L5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.120131665A>C, NC_000002.12:g.120131665A>G, NC_000002.11:g.120889241A>C, NC_000002.11:g.120889241A>G, NM_020909.4:c.1549A>C, NM_020909.4:c.1549A>G, NM_020909.3:c.1549A>C, NM_020909.3:c.1549A>G, XM_006712651.2:c.1549A>C, XM_006712651.2:c.1549A>G, XM_006712651.1:c.1549A>C, XM_006712651.1:c.1549A>G, NM_001330310.2:c.1549A>C, NM_001330310.2:c.1549A>G, NM_001330310.1:c.1549A>C, NM_001330310.1:c.1549A>G, NM_001184937.2:c.1549A>C, NM_001184937.2:c.1549A>G, NM_001184937.1:c.1549A>C, NM_001184937.1:c.1549A>G, XM_006712653.2:c.1333A>C, XM_006712653.2:c.1333A>G, XM_006712653.1:c.1333A>C, XM_006712653.1:c.1333A>G, XM_047445208.1:c.1549A>C, XM_047445208.1:c.1549A>G, XM_047445210.1:c.1549A>C, XM_047445210.1:c.1549A>G, XM_017004567.1:c.1549A>C, XM_017004567.1:c.1549A>G, NP_065960.2:p.Ser517Arg, NP_065960.2:p.Ser517Gly, XP_006712714.1:p.Ser517Arg, XP_006712714.1:p.Ser517Gly, NP_001317239.1:p.Ser517Arg, NP_001317239.1:p.Ser517Gly, NP_001171866.1:p.Ser517Arg, NP_001171866.1:p.Ser517Gly, XP_006712716.1:p.Ser445Arg, XP_006712716.1:p.Ser445Gly, XP_047301164.1:p.Ser517Arg, XP_047301164.1:p.Ser517Gly, XP_047301166.1:p.Ser517Arg, XP_047301166.1:p.Ser517Gly, XP_016860056.1:p.Ser517Arg, XP_016860056.1:p.Ser517Gly

Select item 146912415617.

rs1469124156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:120174858 (GRCh38)
2:120932434 (GRCh37)
Canonical SPDI:: NC_000002.12:120174857:C:T
Gene:: EPB41L5 (Varview), LOC105373582 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.120174858C>T, NC_000002.11:g.120932434C>T, NM_020909.4:c.2153C>T, NM_020909.3:c.2153C>T, XM_006712651.2:c.2174C>T, XM_006712651.1:c.2174C>T, NM_001330310.2:c.2150C>T, NM_001330310.1:c.2150C>T, NM_001184937.2:c.2022C>T, NM_001184937.1:c.2022C>T, XM_006712653.2:c.1958C>T, XM_006712653.1:c.1958C>T, XR_007087216.1:n.27G>A, XM_047445208.1:c.2174C>T, XM_047445210.1:c.2153C>T, XM_017004567.1:c.2174C>T, NP_065960.2:p.Ala718Val, XP_006712714.1:p.Ala725Val, NP_001317239.1:p.Ala717Val, XP_006712716.1:p.Ala653Val, XP_047301164.1:p.Ala725Val, XP_047301166.1:p.Ala718Val, XP_016860056.1:p.Ala725Val

Select item 146829566418.

rs1468295664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:120131642 (GRCh38)
2:120889218 (GRCh37)
Canonical SPDI:: NC_000002.12:120131641:T:G
Gene:: EPB41L5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.120131642T>G, NC_000002.11:g.120889218T>G, NM_020909.4:c.1526T>G, NM_020909.3:c.1526T>G, XM_006712651.2:c.1526T>G, XM_006712651.1:c.1526T>G, NM_001330310.2:c.1526T>G, NM_001330310.1:c.1526T>G, NM_001184937.2:c.1526T>G, NM_001184937.1:c.1526T>G, XM_006712653.2:c.1310T>G, XM_006712653.1:c.1310T>G, XM_047445208.1:c.1526T>G, XM_047445210.1:c.1526T>G, XM_017004567.1:c.1526T>G, NP_065960.2:p.Leu509Arg, XP_006712714.1:p.Leu509Arg, NP_001317239.1:p.Leu509Arg, NP_001171866.1:p.Leu509Arg, XP_006712716.1:p.Leu437Arg, XP_047301164.1:p.Leu509Arg, XP_047301166.1:p.Leu509Arg, XP_016860056.1:p.Leu509Arg

Select item 146766416519.

rs1467664165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:120160919 (GRCh38)
2:120918495 (GRCh37)
Canonical SPDI:: NC_000002.12:120160918:A:C,NC_000002.12:120160918:A:G
Gene:: EPB41L5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.120160919A>C, NC_000002.12:g.120160919A>G, NC_000002.11:g.120918495A>C, NC_000002.11:g.120918495A>G, NM_020909.4:c.1832A>C, NM_020909.4:c.1832A>G, NM_020909.3:c.1832A>C, NM_020909.3:c.1832A>G, XM_006712651.2:c.1832A>C, XM_006712651.2:c.1832A>G, XM_006712651.1:c.1832A>C, XM_006712651.1:c.1832A>G, NM_001330310.2:c.1832A>C, NM_001330310.2:c.1832A>G, NM_001330310.1:c.1832A>C, NM_001330310.1:c.1832A>G, NM_001184937.2:c.1832A>C, NM_001184937.2:c.1832A>G, NM_001184937.1:c.1832A>C, NM_001184937.1:c.1832A>G, XM_006712653.2:c.1616A>C, XM_006712653.2:c.1616A>G, XM_006712653.1:c.1616A>C, XM_006712653.1:c.1616A>G, XM_047445208.1:c.1832A>C, XM_047445208.1:c.1832A>G, XM_047445210.1:c.1832A>C, XM_047445210.1:c.1832A>G, XM_017004567.1:c.1832A>C, XM_017004567.1:c.1832A>G, NP_065960.2:p.Glu611Ala, NP_065960.2:p.Glu611Gly, XP_006712714.1:p.Glu611Ala, XP_006712714.1:p.Glu611Gly, NP_001317239.1:p.Glu611Ala, NP_001317239.1:p.Glu611Gly, NP_001171866.1:p.Glu611Ala, NP_001171866.1:p.Glu611Gly, XP_006712716.1:p.Glu539Ala, XP_006712716.1:p.Glu539Gly, XP_047301164.1:p.Glu611Ala, XP_047301164.1:p.Glu611Gly, XP_047301166.1:p.Glu611Ala, XP_047301166.1:p.Glu611Gly, XP_016860056.1:p.Glu611Ala, XP_016860056.1:p.Glu611Gly

Select item 146402674120.

rs1464026741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:120164868 (GRCh38)
2:120922444 (GRCh37)
Canonical SPDI:: NC_000002.12:120164867:A:G
Gene:: EPB41L5 (Varview), LOC105373582 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_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_000002.12:g.120164868A>G, NC_000002.11:g.120922444A>G, NM_020909.4:c.1920A>G, NM_020909.3:c.1920A>G, XM_006712651.2:c.1920A>G, XM_006712651.1:c.1920A>G, NM_001330310.2:c.1920A>G, NM_001330310.1:c.1920A>G, NM_001184937.2:c.1920A>G, NM_001184937.1:c.1920A>G, XM_006712653.2:c.1704A>G, XM_006712653.1:c.1704A>G, XM_047445208.1:c.1920A>G, XM_047445210.1:c.1920A>G, XM_017004567.1:c.1920A>G

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