SNP Links for Protein (Select 170932467) - SNP

Links from Protein

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Select item 14792385261.

rs1479238526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:77015101 (GRCh38)
11:76726145 (GRCh37)
Canonical SPDI:: NC_000011.10:77015100:T:C
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77015101T>C, NC_000011.9:g.76726145T>C, NW_003871081.1:g.16738T>C, NM_018367.7:c.583T>C, NM_018367.6:c.583T>C, NM_018367.5:c.583T>C, XM_011545152.3:c.457T>C, XM_011545152.2:c.457T>C, XM_011545152.1:c.457T>C, NM_001300954.2:c.298T>C, NM_001300954.1:c.298T>C, NM_001300955.2:c.298T>C, NM_001300955.1:c.298T>C, NM_001300953.2:c.472T>C, NM_001300953.1:c.472T>C, XM_047427235.1:c.*131T>C, NP_060837.3:p.Phe195Leu, XP_011543454.1:p.Phe153Leu, NP_001287883.1:p.Phe100Leu, NP_001287884.1:p.Phe100Leu, NP_001287882.1:p.Phe158Leu

Select item 14784826042.

rs1478482604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:76861028 (GRCh38)
11:76572072 (GRCh37)
Canonical SPDI:: NC_000011.10:76861027:C:G,NC_000011.10:76861027:C:T
Gene:: ACER3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.76861028C>G, NC_000011.10:g.76861028C>T, NC_000011.9:g.76572072C>G, NC_000011.9:g.76572072C>T, NM_018367.7:c.52C>G, NM_018367.7:c.52C>T, NM_018367.6:c.52C>G, NM_018367.6:c.52C>T, NM_018367.5:c.52C>G, NM_018367.5:c.52C>T, XM_011545151.3:c.52C>G, XM_011545151.3:c.52C>T, XM_011545151.2:c.52C>G, XM_011545151.2:c.52C>T, XM_011545151.1:c.52C>G, XM_011545151.1:c.52C>T, NM_001300954.2:c.-305C>G, NM_001300954.2:c.-305C>T, NM_001300954.1:c.-305C>G, NM_001300954.1:c.-305C>T, NM_001300955.2:c.-181C>G, NM_001300955.2:c.-181C>T, NM_001300955.1:c.-181C>G, NM_001300955.1:c.-181C>T, NM_001300953.2:c.52C>G, NM_001300953.2:c.52C>T, NM_001300953.1:c.52C>G, NM_001300953.1:c.52C>T, XM_017017987.2:c.52C>G, XM_017017987.2:c.52C>T, XM_017017987.1:c.52C>G, XM_017017987.1:c.52C>T, XM_047427235.1:c.52C>G, XM_047427235.1:c.52C>T, XR_007062489.1:n.111C>G, XR_007062489.1:n.111C>T, NP_060837.3:p.Leu18Val, XP_011543453.1:p.Leu18Val, NP_001287882.1:p.Leu18Val, XP_016873476.1:p.Leu18Val, XP_047283191.1:p.Leu18Val

Select item 14737340723.

rs1473734072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:76976337 (GRCh38)
11:76687381 (GRCh37)
Canonical SPDI:: NC_000011.10:76976336:T:A
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.76976337T>A, NC_000011.9:g.76687381T>A, NM_018367.7:c.316T>A, NM_018367.6:c.316T>A, NM_018367.5:c.316T>A, XM_011545152.3:c.190T>A, XM_011545152.2:c.190T>A, XM_011545152.1:c.190T>A, XM_011545151.3:c.316T>A, XM_011545151.2:c.316T>A, XM_011545151.1:c.316T>A, NM_001300954.2:c.31T>A, NM_001300954.1:c.31T>A, NM_001300955.2:c.31T>A, NM_001300955.1:c.31T>A, NM_001300953.2:c.205T>A, NM_001300953.1:c.205T>A, XM_017017987.2:c.316T>A, XM_017017987.1:c.316T>A, XM_047427235.1:c.316T>A, XR_007062489.1:n.375T>A, NP_060837.3:p.Cys106Ser, XP_011543454.1:p.Cys64Ser, XP_011543453.1:p.Cys106Ser, NP_001287883.1:p.Cys11Ser, NP_001287884.1:p.Cys11Ser, NP_001287882.1:p.Cys69Ser, XP_016873476.1:p.Cys106Ser, XP_047283191.1:p.Cys106Ser

Select item 14712085394.

rs1471208539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:76861039 (GRCh38)
11:76572083 (GRCh37)
Canonical SPDI:: NC_000011.10:76861038:C:T
Gene:: ACER3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000011.10:g.76861039C>T, NC_000011.9:g.76572083C>T, NM_018367.7:c.63C>T, NM_018367.6:c.63C>T, NM_018367.5:c.63C>T, XM_011545151.3:c.63C>T, XM_011545151.2:c.63C>T, XM_011545151.1:c.63C>T, NM_001300954.2:c.-294C>T, NM_001300954.1:c.-294C>T, NM_001300955.2:c.-170C>T, NM_001300955.1:c.-170C>T, NM_001300953.2:c.63C>T, NM_001300953.1:c.63C>T, XM_017017987.2:c.63C>T, XM_017017987.1:c.63C>T, XM_047427235.1:c.63C>T, XR_007062489.1:n.122C>T

Select item 14605604285.

rs1460560428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:76861010 (GRCh38)
11:76572054 (GRCh37)
Canonical SPDI:: NC_000011.10:76861009:G:A
Gene:: ACER3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.76861010G>A, NC_000011.9:g.76572054G>A, NM_018367.7:c.34G>A, NM_018367.6:c.34G>A, NM_018367.5:c.34G>A, XM_011545151.3:c.34G>A, XM_011545151.2:c.34G>A, XM_011545151.1:c.34G>A, NM_001300954.2:c.-323G>A, NM_001300954.1:c.-323G>A, NM_001300955.2:c.-199G>A, NM_001300955.1:c.-199G>A, NM_001300953.2:c.34G>A, NM_001300953.1:c.34G>A, XM_017017987.2:c.34G>A, XM_017017987.1:c.34G>A, XM_047427235.1:c.34G>A, XR_007062489.1:n.93G>A, NP_060837.3:p.Gly12Ser, XP_011543453.1:p.Gly12Ser, NP_001287882.1:p.Gly12Ser, XP_016873476.1:p.Gly12Ser, XP_047283191.1:p.Gly12Ser

Select item 14543731826.

rs1454373182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:76985722 (GRCh38)
11:76696766 (GRCh37)
Canonical SPDI:: NC_000011.10:76985721:A:G
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.76985722A>G, NC_000011.9:g.76696766A>G, NM_018367.7:c.400A>G, NM_018367.6:c.400A>G, NM_018367.5:c.400A>G, XM_011545152.3:c.274A>G, XM_011545152.2:c.274A>G, XM_011545152.1:c.274A>G, XM_011545151.3:c.400A>G, XM_011545151.2:c.400A>G, XM_011545151.1:c.400A>G, NM_001300954.2:c.115A>G, NM_001300954.1:c.115A>G, NM_001300955.2:c.115A>G, NM_001300955.1:c.115A>G, NM_001300953.2:c.289A>G, NM_001300953.1:c.289A>G, XM_017017987.2:c.400A>G, XM_017017987.1:c.400A>G, XM_047427235.1:c.400A>G, XR_007062489.1:n.459A>G, NP_060837.3:p.Thr134Ala, XP_011543454.1:p.Thr92Ala, XP_011543453.1:p.Thr134Ala, NP_001287883.1:p.Thr39Ala, NP_001287884.1:p.Thr39Ala, NP_001287882.1:p.Thr97Ala, XP_016873476.1:p.Thr134Ala, XP_047283191.1:p.Thr134Ala

Select item 14509432027.

rs1450943202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:76860990 (GRCh38)
11:76572034 (GRCh37)
Canonical SPDI:: NC_000011.10:76860989:C:G,NC_000011.10:76860989:C:T
Gene:: ACER3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.76860990C>G, NC_000011.10:g.76860990C>T, NC_000011.9:g.76572034C>G, NC_000011.9:g.76572034C>T, NM_018367.7:c.14C>G, NM_018367.7:c.14C>T, NM_018367.6:c.14C>G, NM_018367.6:c.14C>T, NM_018367.5:c.14C>G, NM_018367.5:c.14C>T, XM_011545151.3:c.14C>G, XM_011545151.3:c.14C>T, XM_011545151.2:c.14C>G, XM_011545151.2:c.14C>T, XM_011545151.1:c.14C>G, XM_011545151.1:c.14C>T, NM_001300954.2:c.-343C>G, NM_001300954.2:c.-343C>T, NM_001300954.1:c.-343C>G, NM_001300954.1:c.-343C>T, NM_001300955.2:c.-219C>G, NM_001300955.2:c.-219C>T, NM_001300955.1:c.-219C>G, NM_001300955.1:c.-219C>T, NM_001300953.2:c.14C>G, NM_001300953.2:c.14C>T, NM_001300953.1:c.14C>G, NM_001300953.1:c.14C>T, XM_017017987.2:c.14C>G, XM_017017987.2:c.14C>T, XM_017017987.1:c.14C>G, XM_017017987.1:c.14C>T, XM_047427235.1:c.14C>G, XM_047427235.1:c.14C>T, XR_007062489.1:n.73C>G, XR_007062489.1:n.73C>T, NP_060837.3:p.Ala5Gly, NP_060837.3:p.Ala5Val, XP_011543453.1:p.Ala5Gly, XP_011543453.1:p.Ala5Val, NP_001287882.1:p.Ala5Gly, NP_001287882.1:p.Ala5Val, XP_016873476.1:p.Ala5Gly, XP_016873476.1:p.Ala5Val, XP_047283191.1:p.Ala5Gly, XP_047283191.1:p.Ala5Val

Select item 14439023168.

rs1443902316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:76958998 (GRCh38)
11:76670042 (GRCh37)
Canonical SPDI:: NC_000011.10:76958997:G:A
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000011.10:g.76958998G>A, NC_000011.9:g.76670042G>A, NM_018367.7:c.234G>A, NM_018367.6:c.234G>A, NM_018367.5:c.234G>A, XM_011545152.3:c.108G>A, XM_011545152.2:c.108G>A, XM_011545152.1:c.108G>A, XM_011545151.3:c.234G>A, XM_011545151.2:c.234G>A, XM_011545151.1:c.234G>A, NM_001300953.2:c.123G>A, NM_001300953.1:c.123G>A, XM_017017987.2:c.234G>A, XM_017017987.1:c.234G>A, XR_007062793.1:n.585C>T, XM_047427235.1:c.234G>A, XR_007062489.1:n.293G>A, XR_007062791.1:n.243C>T, XR_007062792.1:n.133C>T, XR_007062790.1:n.114C>T, NP_060837.3:p.Trp78Ter, XP_011543454.1:p.Trp36Ter, XP_011543453.1:p.Trp78Ter, NP_001287882.1:p.Trp41Ter, XP_016873476.1:p.Trp78Ter, XP_047283191.1:p.Trp78Ter

Select item 14403532749.

rs1440353274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:76990572 (GRCh38)
11:76701616 (GRCh37)
Canonical SPDI:: NC_000011.10:76990571:C:A
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.76990572C>A, NC_000011.9:g.76701616C>A, NM_018367.7:c.436C>A, NM_018367.6:c.436C>A, NM_018367.5:c.436C>A, XM_011545152.3:c.310C>A, XM_011545152.2:c.310C>A, XM_011545152.1:c.310C>A, XM_011545151.3:c.436C>A, XM_011545151.2:c.436C>A, XM_011545151.1:c.436C>A, NM_001300954.2:c.151C>A, NM_001300954.1:c.151C>A, NM_001300955.2:c.151C>A, NM_001300955.1:c.151C>A, NM_001300953.2:c.325C>A, NM_001300953.1:c.325C>A, XM_017017987.2:c.436C>A, XM_017017987.1:c.436C>A, XM_047427235.1:c.436C>A, XR_007062489.1:n.495C>A, NP_060837.3:p.Gln146Lys, XP_011543454.1:p.Gln104Lys, XP_011543453.1:p.Gln146Lys, NP_001287883.1:p.Gln51Lys, NP_001287884.1:p.Gln51Lys, NP_001287882.1:p.Gln109Lys, XP_016873476.1:p.Gln146Lys, XP_047283191.1:p.Gln146Lys

Select item 143711250910.

rs1437112509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:76926657 (GRCh38)
11:76637701 (GRCh37)
Canonical SPDI:: NC_000011.10:76926656:A:C
Gene:: ACER3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.76926657A>C, NC_000011.9:g.76637701A>C, NM_018367.7:c.204A>C, NM_018367.6:c.204A>C, NM_018367.5:c.204A>C, XM_011545152.3:c.78A>C, XM_011545152.2:c.78A>C, XM_011545152.1:c.78A>C, XM_011545151.3:c.204A>C, XM_011545151.2:c.204A>C, XM_011545151.1:c.204A>C, NM_001300954.2:c.-153A>C, NM_001300954.1:c.-153A>C, NM_001300955.2:c.-29A>C, NM_001300955.1:c.-29A>C, XM_017017987.2:c.204A>C, XM_017017987.1:c.204A>C, XM_047427235.1:c.204A>C, XR_007062489.1:n.263A>C, NP_060837.3:p.Leu68Phe, XP_011543454.1:p.Leu26Phe, XP_011543453.1:p.Leu68Phe, XP_016873476.1:p.Leu68Phe, XP_047283191.1:p.Leu68Phe

Select item 143570214911.

rs1435702149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:76990555 (GRCh38)
11:76701599 (GRCh37)
Canonical SPDI:: NC_000011.10:76990554:A:G
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.76990555A>G, NC_000011.9:g.76701599A>G, NM_018367.7:c.419A>G, NM_018367.6:c.419A>G, NM_018367.5:c.419A>G, XM_011545152.3:c.293A>G, XM_011545152.2:c.293A>G, XM_011545152.1:c.293A>G, XM_011545151.3:c.419A>G, XM_011545151.2:c.419A>G, XM_011545151.1:c.419A>G, NM_001300954.2:c.134A>G, NM_001300954.1:c.134A>G, NM_001300955.2:c.134A>G, NM_001300955.1:c.134A>G, NM_001300953.2:c.308A>G, NM_001300953.1:c.308A>G, XM_017017987.2:c.419A>G, XM_017017987.1:c.419A>G, XM_047427235.1:c.419A>G, XR_007062489.1:n.478A>G, NP_060837.3:p.Lys140Arg, XP_011543454.1:p.Lys98Arg, XP_011543453.1:p.Lys140Arg, NP_001287883.1:p.Lys45Arg, NP_001287884.1:p.Lys45Arg, NP_001287882.1:p.Lys103Arg, XP_016873476.1:p.Lys140Arg, XP_047283191.1:p.Lys140Arg

Select item 142995948512.

rs1429959485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:77016709 (GRCh38)
11:76727753 (GRCh37)
Canonical SPDI:: NC_000011.10:77016708:A:G
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.77016709A>G, NC_000011.9:g.76727753A>G, NW_003871081.1:g.18346A>G, NM_018367.7:c.634A>G, NM_018367.6:c.634A>G, NM_018367.5:c.634A>G, XM_011545152.3:c.508A>G, XM_011545152.2:c.508A>G, XM_011545152.1:c.508A>G, XM_011545151.3:c.532A>G, XM_011545151.2:c.532A>G, XM_011545151.1:c.532A>G, NM_001300954.2:c.349A>G, NM_001300954.1:c.349A>G, NM_001300955.2:c.349A>G, NM_001300955.1:c.349A>G, NM_001300953.2:c.523A>G, NM_001300953.1:c.523A>G, NP_060837.3:p.Ile212Val, XP_011543454.1:p.Ile170Val, XP_011543453.1:p.Ile178Val, NP_001287883.1:p.Ile117Val, NP_001287884.1:p.Ile117Val, NP_001287882.1:p.Ile175Val

Select item 142889675613.

rs1428896756 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:76861056 (GRCh38)
11:76572100 (GRCh37)
Canonical SPDI:: NC_000011.10:76861054:GTG:G
Gene:: ACER3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
HGVS:: NC_000011.10:g.76861056_76861057del, NC_000011.9:g.76572100_76572101del, NM_018367.7:c.80_81del, NM_018367.6:c.80_81del, NM_018367.5:c.80_81del, XM_011545151.3:c.80_81del, XM_011545151.2:c.80_81del, XM_011545151.1:c.80_81del, NM_001300954.2:c.-277_-276del, NM_001300954.1:c.-277_-276del, NM_001300955.2:c.-153_-152del, NM_001300955.1:c.-153_-152del, NM_001300953.2:c.80_81del, NM_001300953.1:c.80_81del, XM_017017987.2:c.80_81del, XM_017017987.1:c.80_81del, XM_047427235.1:c.80_81del, XR_007062489.1:n.139_140del, NP_060837.3:p.Val27fs, XP_011543453.1:p.Val27fs, NP_001287882.1:p.Val27fs, XP_016873476.1:p.Val27fs, XP_047283191.1:p.Val27fs

Select item 142879008814.

rs1428790088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:76976340 (GRCh38)
11:76687384 (GRCh37)
Canonical SPDI:: NC_000011.10:76976339:A:G
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000011.10:g.76976340A>G, NC_000011.9:g.76687384A>G, NM_018367.7:c.319A>G, NM_018367.6:c.319A>G, NM_018367.5:c.319A>G, XM_011545152.3:c.193A>G, XM_011545152.2:c.193A>G, XM_011545152.1:c.193A>G, XM_011545151.3:c.319A>G, XM_011545151.2:c.319A>G, XM_011545151.1:c.319A>G, NM_001300954.2:c.34A>G, NM_001300954.1:c.34A>G, NM_001300955.2:c.34A>G, NM_001300955.1:c.34A>G, NM_001300953.2:c.208A>G, NM_001300953.1:c.208A>G, XM_017017987.2:c.319A>G, XM_017017987.1:c.319A>G, XM_047427235.1:c.319A>G, XR_007062489.1:n.378A>G, NP_060837.3:p.Met107Val, XP_011543454.1:p.Met65Val, XP_011543453.1:p.Met107Val, NP_001287883.1:p.Met12Val, NP_001287884.1:p.Met12Val, NP_001287882.1:p.Met70Val, XP_016873476.1:p.Met107Val, XP_047283191.1:p.Met107Val

Select item 142744847015.

rs1427448470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:76861024 (GRCh38)
11:76572068 (GRCh37)
Canonical SPDI:: NC_000011.10:76861023:C:A
Gene:: ACER3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000011.10:g.76861024C>A, NC_000011.9:g.76572068C>A, NM_018367.7:c.48C>A, NM_018367.6:c.48C>A, NM_018367.5:c.48C>A, XM_011545151.3:c.48C>A, XM_011545151.2:c.48C>A, XM_011545151.1:c.48C>A, NM_001300954.2:c.-309C>A, NM_001300954.1:c.-309C>A, NM_001300955.2:c.-185C>A, NM_001300955.1:c.-185C>A, NM_001300953.2:c.48C>A, NM_001300953.1:c.48C>A, XM_017017987.2:c.48C>A, XM_017017987.1:c.48C>A, XM_047427235.1:c.48C>A, XR_007062489.1:n.107C>A

Select item 141894003216.

rs1418940032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:77019747 (GRCh38)
11:76730791 (GRCh37)
Canonical SPDI:: NC_000011.10:77019746:C:G
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77019747C>G, NC_000011.9:g.76730791C>G, NW_003871081.1:g.21384C>G, NM_018367.7:c.721C>G, NM_018367.6:c.721C>G, NM_018367.5:c.721C>G, XM_011545152.3:c.595C>G, XM_011545152.2:c.595C>G, XM_011545152.1:c.595C>G, XM_011545151.3:c.619C>G, XM_011545151.2:c.619C>G, XM_011545151.1:c.619C>G, NM_001300954.2:c.436C>G, NM_001300954.1:c.436C>G, NM_001300955.2:c.436C>G, NM_001300955.1:c.436C>G, NM_001300953.2:c.610C>G, NM_001300953.1:c.610C>G, NP_060837.3:p.Leu241Val, XP_011543454.1:p.Leu199Val, XP_011543453.1:p.Leu207Val, NP_001287883.1:p.Leu146Val, NP_001287884.1:p.Leu146Val, NP_001287882.1:p.Leu204Val

Select item 141603182117.

rs1416031821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:76959022 (GRCh38)
11:76670066 (GRCh37)
Canonical SPDI:: NC_000011.10:76959021:T:C
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.76959022T>C, NC_000011.9:g.76670066T>C, NM_018367.7:c.258T>C, NM_018367.6:c.258T>C, NM_018367.5:c.258T>C, XM_011545152.3:c.132T>C, XM_011545152.2:c.132T>C, XM_011545152.1:c.132T>C, XM_011545151.3:c.258T>C, XM_011545151.2:c.258T>C, XM_011545151.1:c.258T>C, NM_001300953.2:c.147T>C, NM_001300953.1:c.147T>C, XM_017017987.2:c.258T>C, XM_017017987.1:c.258T>C, XM_047427235.1:c.258T>C, XR_007062489.1:n.317T>C

Select item 140928167918.

rs1409281679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:77015058 (GRCh38)
11:76726102 (GRCh37)
Canonical SPDI:: NC_000011.10:77015057:T:C
Gene:: ACER3 (Varview), LOC124902721 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77015058T>C, NC_000011.9:g.76726102T>C, NW_003871081.1:g.16695T>C, NM_018367.7:c.540T>C, NM_018367.6:c.540T>C, NM_018367.5:c.540T>C, XM_011545152.3:c.414T>C, XM_011545152.2:c.414T>C, XM_011545152.1:c.414T>C, NM_001300954.2:c.255T>C, NM_001300954.1:c.255T>C, NM_001300955.2:c.255T>C, NM_001300955.1:c.255T>C, NM_001300953.2:c.429T>C, NM_001300953.1:c.429T>C, XM_047427235.1:c.*88T>C

Select item 140728897319.

rs1407288973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:76861072 (GRCh38)
11:76572116 (GRCh37)
Canonical SPDI:: NC_000011.10:76861071:C:G,NC_000011.10:76861071:C:T
Gene:: ACER3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.76861072C>G, NC_000011.10:g.76861072C>T, NC_000011.9:g.76572116C>G, NC_000011.9:g.76572116C>T, NM_018367.7:c.96C>G, NM_018367.7:c.96C>T, NM_018367.6:c.96C>G, NM_018367.6:c.96C>T, NM_018367.5:c.96C>G, NM_018367.5:c.96C>T, XM_011545151.3:c.96C>G, XM_011545151.3:c.96C>T, XM_011545151.2:c.96C>G, XM_011545151.2:c.96C>T, XM_011545151.1:c.96C>G, XM_011545151.1:c.96C>T, NM_001300954.2:c.-261C>G, NM_001300954.2:c.-261C>T, NM_001300954.1:c.-261C>G, NM_001300954.1:c.-261C>T, NM_001300955.2:c.-137C>G, NM_001300955.2:c.-137C>T, NM_001300955.1:c.-137C>G, NM_001300955.1:c.-137C>T, NM_001300953.2:c.96C>G, NM_001300953.2:c.96C>T, NM_001300953.1:c.96C>G, NM_001300953.1:c.96C>T, XM_017017987.2:c.96C>G, XM_017017987.2:c.96C>T, XM_017017987.1:c.96C>G, XM_017017987.1:c.96C>T, XM_047427235.1:c.96C>G, XM_047427235.1:c.96C>T, XR_007062489.1:n.155C>G, XR_007062489.1:n.155C>T

Select item 140636423320.

rs1406364233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:76926627 (GRCh38)
11:76637671 (GRCh37)
Canonical SPDI:: NC_000011.10:76926626:T:A,NC_000011.10:76926626:T:C
Gene:: ACER3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.76926627T>A, NC_000011.10:g.76926627T>C, NC_000011.9:g.76637671T>A, NC_000011.9:g.76637671T>C, NM_018367.7:c.174T>A, NM_018367.7:c.174T>C, NM_018367.6:c.174T>A, NM_018367.6:c.174T>C, NM_018367.5:c.174T>A, NM_018367.5:c.174T>C, XM_011545152.3:c.48T>A, XM_011545152.3:c.48T>C, XM_011545152.2:c.48T>A, XM_011545152.2:c.48T>C, XM_011545152.1:c.48T>A, XM_011545152.1:c.48T>C, XM_011545151.3:c.174T>A, XM_011545151.3:c.174T>C, XM_011545151.2:c.174T>A, XM_011545151.2:c.174T>C, XM_011545151.1:c.174T>A, XM_011545151.1:c.174T>C, NM_001300954.2:c.-183T>A, NM_001300954.2:c.-183T>C, NM_001300954.1:c.-183T>A, NM_001300954.1:c.-183T>C, NM_001300955.2:c.-59T>A, NM_001300955.2:c.-59T>C, NM_001300955.1:c.-59T>A, NM_001300955.1:c.-59T>C, XM_017017987.2:c.174T>A, XM_017017987.2:c.174T>C, XM_017017987.1:c.174T>A, XM_017017987.1:c.174T>C, XM_047427235.1:c.174T>A, XM_047427235.1:c.174T>C, XR_007062489.1:n.233T>A, XR_007062489.1:n.233T>C

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