SNP Links for Protein (Select 981220826) - SNP

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Links from Protein

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Select item 14909311941.

rs1490931194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:219381984 (GRCh38)
2:220246706 (GRCh37)
Canonical SPDI:: NC_000002.12:219381983:G:T
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219381984G>T, NC_000002.11:g.220246706G>T, NM_012100.4:c.1092C>A, NM_012100.3:c.1092C>A, NM_012100.2:c.1092C>A, NM_001319119.2:c.1050C>A, NM_001319119.1:c.1050C>A, NM_001319116.2:c.1116C>A, NM_001319116.1:c.1116C>A, NM_001319122.2:c.933C>A, NM_001319122.1:c.933C>A, NM_001319118.2:c.1050C>A, NM_001319118.1:c.1050C>A, NM_001319121.2:c.933C>A, NM_001319121.1:c.933C>A, NM_001319120.2:c.984C>A, NM_001319120.1:c.984C>A, NM_001319117.2:c.1008C>A, NM_001319117.1:c.1008C>A, NR_134970.2:n.1026C>A, NR_134970.1:n.1054C>A, NP_036232.2:p.Asn364Lys, NP_001306048.1:p.Asn350Lys, NP_001306045.1:p.Asn372Lys, NP_001306051.1:p.Asn311Lys, NP_001306047.1:p.Asn350Lys, NP_001306050.1:p.Asn311Lys, NP_001306049.1:p.Asn328Lys, NP_001306046.1:p.Asn336Lys

Select item 14903447032.

rs1490344703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:219374338 (GRCh38)
2:220239060 (GRCh37)
Canonical SPDI:: NC_000002.12:219374337:A:C
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219374338A>C, NC_000002.11:g.220239060A>C, NM_012100.4:c.1412T>G, NM_012100.3:c.1412T>G, NM_012100.2:c.1412T>G, NM_001319119.2:c.1370T>G, NM_001319119.1:c.1370T>G, NM_001319116.2:c.1436T>G, NM_001319116.1:c.1436T>G, NM_001319122.2:c.1253T>G, NM_001319122.1:c.1253T>G, NM_001319118.2:c.1370T>G, NM_001319118.1:c.1370T>G, NM_001319121.2:c.1253T>G, NM_001319121.1:c.1253T>G, NM_001319120.2:c.1304T>G, NM_001319120.1:c.1304T>G, NM_001319117.2:c.1328T>G, NM_001319117.1:c.1328T>G, NR_134970.2:n.1346T>G, NR_134970.1:n.1374T>G, NP_036232.2:p.Phe471Cys, NP_001306048.1:p.Phe457Cys, NP_001306045.1:p.Phe479Cys, NP_001306051.1:p.Phe418Cys, NP_001306047.1:p.Phe457Cys, NP_001306050.1:p.Phe418Cys, NP_001306049.1:p.Phe435Cys, NP_001306046.1:p.Phe443Cys

Select item 14898901353.

rs1489890135 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:219381338 (GRCh38)
2:220246061 (GRCh37)
Canonical SPDI:: NC_000002.12:219381338:A:AA
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.219381339dup, NC_000002.11:g.220246061dup, NM_012100.4:c.1235dup, NM_012100.3:c.1235dup, NM_012100.2:c.1235dup, NM_001319119.2:c.1193dup, NM_001319119.1:c.1193dup, NM_001319116.2:c.1259dup, NM_001319116.1:c.1259dup, NM_001319122.2:c.1076dup, NM_001319122.1:c.1076dup, NM_001319118.2:c.1193dup, NM_001319118.1:c.1193dup, NM_001319121.2:c.1076dup, NM_001319121.1:c.1076dup, NM_001319120.2:c.1127dup, NM_001319120.1:c.1127dup, NM_001319117.2:c.1151dup, NM_001319117.1:c.1151dup, NR_134970.2:n.1169dup, NR_134970.1:n.1197dup, NP_036232.2:p.Gln413fs, NP_001306048.1:p.Gln399fs, NP_001306045.1:p.Gln421fs, NP_001306051.1:p.Gln360fs, NP_001306047.1:p.Gln399fs, NP_001306050.1:p.Gln360fs, NP_001306049.1:p.Gln377fs, NP_001306046.1:p.Gln385fs

Select item 14879394304.

rs1487939430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:219386096 (GRCh38)
2:220250818 (GRCh37)
Canonical SPDI:: NC_000002.12:219386095:G:T
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219386096G>T, NC_000002.11:g.220250818G>T, NM_012100.4:c.462C>A, NM_012100.3:c.462C>A, NM_012100.2:c.462C>A, NM_001319119.2:c.420C>A, NM_001319119.1:c.420C>A, NM_001319116.2:c.486C>A, NM_001319116.1:c.486C>A, NM_001319122.2:c.303C>A, NM_001319122.1:c.303C>A, NM_001319118.2:c.420C>A, NM_001319118.1:c.420C>A, NM_001319121.2:c.303C>A, NM_001319121.1:c.303C>A, NM_001319120.2:c.462C>A, NM_001319120.1:c.462C>A, NM_001319117.2:c.486C>A, NM_001319117.1:c.486C>A, NR_134970.2:n.580C>A, NR_134970.1:n.608C>A, NP_036232.2:p.Cys154Ter, NP_001306048.1:p.Cys140Ter, NP_001306045.1:p.Cys162Ter, NP_001306051.1:p.Cys101Ter, NP_001306047.1:p.Cys140Ter, NP_001306050.1:p.Cys101Ter, NP_001306049.1:p.Cys154Ter, NP_001306046.1:p.Cys162Ter

Select item 14863768185.

rs1486376818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219385983 (GRCh38)
2:220250705 (GRCh37)
Canonical SPDI:: NC_000002.12:219385982:T:C
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.219385983T>C, NC_000002.11:g.220250705T>C, NM_012100.4:c.575A>G, NM_012100.3:c.575A>G, NM_012100.2:c.575A>G, NM_001319119.2:c.533A>G, NM_001319119.1:c.533A>G, NM_001319116.2:c.599A>G, NM_001319116.1:c.599A>G, NM_001319122.2:c.416A>G, NM_001319122.1:c.416A>G, NM_001319118.2:c.533A>G, NM_001319118.1:c.533A>G, NM_001319121.2:c.416A>G, NM_001319121.1:c.416A>G, NM_001319120.2:c.575A>G, NM_001319120.1:c.575A>G, NM_001319117.2:c.599A>G, NM_001319117.1:c.599A>G, NR_134970.2:n.693A>G, NR_134970.1:n.721A>G, NP_036232.2:p.Asn192Ser, NP_001306048.1:p.Asn178Ser, NP_001306045.1:p.Asn200Ser, NP_001306051.1:p.Asn139Ser, NP_001306047.1:p.Asn178Ser, NP_001306050.1:p.Asn139Ser, NP_001306049.1:p.Asn192Ser, NP_001306046.1:p.Asn200Ser

Select item 14835049816.

rs1483504981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219386945 (GRCh38)
2:220251667 (GRCh37)
Canonical SPDI:: NC_000002.12:219386944:C:T
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219386945C>T, NC_000002.11:g.220251667C>T, NM_012100.4:c.166G>A, NM_012100.3:c.166G>A, NM_012100.2:c.166G>A, NM_001319119.2:c.124G>A, NM_001319119.1:c.124G>A, NM_001319116.2:c.190G>A, NM_001319116.1:c.190G>A, NM_001319122.2:c.7G>A, NM_001319122.1:c.7G>A, NM_001319118.2:c.124G>A, NM_001319118.1:c.124G>A, NM_001319121.2:c.7G>A, NM_001319121.1:c.7G>A, NM_001319120.2:c.166G>A, NM_001319120.1:c.166G>A, NM_001319117.2:c.190G>A, NM_001319117.1:c.190G>A, NR_134970.2:n.284G>A, NR_134970.1:n.312G>A, NP_036232.2:p.Gly56Ser, NP_001306048.1:p.Gly42Ser, NP_001306045.1:p.Gly64Ser, NP_001306051.1:p.Gly3Ser, NP_001306047.1:p.Gly42Ser, NP_001306050.1:p.Gly3Ser, NP_001306049.1:p.Gly56Ser, NP_001306046.1:p.Gly64Ser

Select item 14826782317.

rs1482678231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219385679 (GRCh38)
2:220250401 (GRCh37)
Canonical SPDI:: NC_000002.12:219385678:C:T
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219385679C>T, NC_000002.11:g.220250401C>T, NM_012100.4:c.618G>A, NM_012100.3:c.618G>A, NM_012100.2:c.618G>A, NM_001319119.2:c.576G>A, NM_001319119.1:c.576G>A, NM_001319116.2:c.642G>A, NM_001319116.1:c.642G>A, NM_001319122.2:c.459G>A, NM_001319122.1:c.459G>A, NM_001319118.2:c.576G>A, NM_001319118.1:c.576G>A, NM_001319121.2:c.459G>A, NM_001319121.1:c.459G>A, NM_001319120.2:c.618G>A, NM_001319120.1:c.618G>A, NM_001319117.2:c.642G>A, NM_001319117.1:c.642G>A

Select item 14798340028.

rs1479834002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219381582 (GRCh38)
2:220246304 (GRCh37)
Canonical SPDI:: NC_000002.12:219381581:T:C
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219381582T>C, NC_000002.11:g.220246304T>C, NM_012100.4:c.1100A>G, NM_012100.3:c.1100A>G, NM_012100.2:c.1100A>G, NM_001319119.2:c.1058A>G, NM_001319119.1:c.1058A>G, NM_001319116.2:c.1124A>G, NM_001319116.1:c.1124A>G, NM_001319122.2:c.941A>G, NM_001319122.1:c.941A>G, NM_001319118.2:c.1058A>G, NM_001319118.1:c.1058A>G, NM_001319121.2:c.941A>G, NM_001319121.1:c.941A>G, NM_001319120.2:c.992A>G, NM_001319120.1:c.992A>G, NM_001319117.2:c.1016A>G, NM_001319117.1:c.1016A>G, NR_134970.2:n.1034A>G, NR_134970.1:n.1062A>G, NP_036232.2:p.Asp367Gly, NP_001306048.1:p.Asp353Gly, NP_001306045.1:p.Asp375Gly, NP_001306051.1:p.Asp314Gly, NP_001306047.1:p.Asp353Gly, NP_001306050.1:p.Asp314Gly, NP_001306049.1:p.Asp331Gly, NP_001306046.1:p.Asp339Gly

Select item 14787858399.

rs1478785839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219384414 (GRCh38)
2:220249136 (GRCh37)
Canonical SPDI:: NC_000002.12:219384413:G:A
Gene:: DNPEP (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219384414G>A, NC_000002.11:g.220249136G>A, NM_012100.4:c.804C>T, NM_012100.3:c.804C>T, NM_012100.2:c.804C>T, NM_001319119.2:c.762C>T, NM_001319119.1:c.762C>T, NM_001319116.2:c.828C>T, NM_001319116.1:c.828C>T, NM_001319122.2:c.645C>T, NM_001319122.1:c.645C>T, NM_001319118.2:c.762C>T, NM_001319118.1:c.762C>T, NM_001319121.2:c.645C>T, NM_001319121.1:c.645C>T, NM_001319120.2:c.696C>T, NM_001319120.1:c.696C>T, NM_001319117.2:c.720C>T, NM_001319117.1:c.720C>T, NR_134970.2:n.738C>T, NR_134970.1:n.766C>T

Select item 147062788910.

rs1470627889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219374896 (GRCh38)
2:220239618 (GRCh37)
Canonical SPDI:: NC_000002.12:219374895:C:T
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219374896C>T, NC_000002.11:g.220239618C>T, NM_012100.4:c.1366G>A, NM_012100.3:c.1366G>A, NM_012100.2:c.1366G>A, NM_001319119.2:c.1324G>A, NM_001319119.1:c.1324G>A, NM_001319116.2:c.1390G>A, NM_001319116.1:c.1390G>A, NM_001319122.2:c.1207G>A, NM_001319122.1:c.1207G>A, NM_001319118.2:c.1324G>A, NM_001319118.1:c.1324G>A, NM_001319121.2:c.1207G>A, NM_001319121.1:c.1207G>A, NM_001319120.2:c.1258G>A, NM_001319120.1:c.1258G>A, NM_001319117.2:c.1282G>A, NM_001319117.1:c.1282G>A, NR_134970.2:n.1300G>A, NR_134970.1:n.1328G>A, NP_036232.2:p.Ala456Thr, NP_001306048.1:p.Ala442Thr, NP_001306045.1:p.Ala464Thr, NP_001306051.1:p.Ala403Thr, NP_001306047.1:p.Ala442Thr, NP_001306050.1:p.Ala403Thr, NP_001306049.1:p.Ala420Thr, NP_001306046.1:p.Ala428Thr

Select item 146960420811.

rs1469604208 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGATAGAGTGCATGGCC>- [Show Flanks]
Chromosome:: 2:219374904 (GRCh38)
2:220239626 (GRCh37)
Canonical SPDI:: NC_000002.12:219374901:CCCGGATAGAGTGCATGGCC:CC
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000043/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219374904_219374921del, NC_000002.11:g.220239626_220239643del, NM_012100.4:c.1343_1360del, NM_012100.3:c.1343_1360del, NM_012100.2:c.1343_1360del, NM_001319119.2:c.1301_1318del, NM_001319119.1:c.1301_1318del, NM_001319116.2:c.1367_1384del, NM_001319116.1:c.1367_1384del, NM_001319122.2:c.1184_1201del, NM_001319122.1:c.1184_1201del, NM_001319118.2:c.1301_1318del, NM_001319118.1:c.1301_1318del, NM_001319121.2:c.1184_1201del, NM_001319121.1:c.1184_1201del, NM_001319120.2:c.1235_1252del, NM_001319120.1:c.1235_1252del, NM_001319117.2:c.1259_1276del, NM_001319117.1:c.1259_1276del, NR_134970.2:n.1277_1294del, NR_134970.1:n.1305_1322del, NP_036232.2:p.Ala448_Arg453del, NP_001306048.1:p.Ala434_Arg439del, NP_001306045.1:p.Ala456_Arg461del, NP_001306051.1:p.Ala395_Arg400del, NP_001306047.1:p.Ala434_Arg439del, NP_001306050.1:p.Ala395_Arg400del, NP_001306049.1:p.Ala412_Arg417del, NP_001306046.1:p.Ala420_Arg425del

Select item 146916048812.

rs1469160488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:219384394 (GRCh38)
2:220249116 (GRCh37)
Canonical SPDI:: NC_000002.12:219384393:T:C,NC_000002.12:219384393:T:G
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000062/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219384394T>C, NC_000002.12:g.219384394T>G, NC_000002.11:g.220249116T>C, NC_000002.11:g.220249116T>G, NM_012100.4:c.824A>G, NM_012100.4:c.824A>C, NM_012100.3:c.824A>G, NM_012100.3:c.824A>C, NM_012100.2:c.824A>G, NM_012100.2:c.824A>C, NM_001319119.2:c.782A>G, NM_001319119.2:c.782A>C, NM_001319119.1:c.782A>G, NM_001319119.1:c.782A>C, NM_001319116.2:c.848A>G, NM_001319116.2:c.848A>C, NM_001319116.1:c.848A>G, NM_001319116.1:c.848A>C, NM_001319122.2:c.665A>G, NM_001319122.2:c.665A>C, NM_001319122.1:c.665A>G, NM_001319122.1:c.665A>C, NM_001319118.2:c.782A>G, NM_001319118.2:c.782A>C, NM_001319118.1:c.782A>G, NM_001319118.1:c.782A>C, NM_001319121.2:c.665A>G, NM_001319121.2:c.665A>C, NM_001319121.1:c.665A>G, NM_001319121.1:c.665A>C, NM_001319120.2:c.716A>G, NM_001319120.2:c.716A>C, NM_001319120.1:c.716A>G, NM_001319120.1:c.716A>C, NM_001319117.2:c.740A>G, NM_001319117.2:c.740A>C, NM_001319117.1:c.740A>G, NM_001319117.1:c.740A>C, NR_134970.2:n.758A>G, NR_134970.2:n.758A>C, NR_134970.1:n.786A>G, NR_134970.1:n.786A>C, NP_036232.2:p.Asn275Ser, NP_036232.2:p.Asn275Thr, NP_001306048.1:p.Asn261Ser, NP_001306048.1:p.Asn261Thr, NP_001306045.1:p.Asn283Ser, NP_001306045.1:p.Asn283Thr, NP_001306051.1:p.Asn222Ser, NP_001306051.1:p.Asn222Thr, NP_001306047.1:p.Asn261Ser, NP_001306047.1:p.Asn261Thr, NP_001306050.1:p.Asn222Ser, NP_001306050.1:p.Asn222Thr, NP_001306049.1:p.Asn239Ser, NP_001306049.1:p.Asn239Thr, NP_001306046.1:p.Asn247Ser, NP_001306046.1:p.Asn247Thr

Select item 146847185713.

rs1468471857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219375000 (GRCh38)
2:220239722 (GRCh37)
Canonical SPDI:: NC_000002.12:219374999:G:A
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.219375000G>A, NC_000002.11:g.220239722G>A, NM_012100.4:c.1262C>T, NM_012100.3:c.1262C>T, NM_012100.2:c.1262C>T, NM_001319119.2:c.1220C>T, NM_001319119.1:c.1220C>T, NM_001319116.2:c.1286C>T, NM_001319116.1:c.1286C>T, NM_001319122.2:c.1103C>T, NM_001319122.1:c.1103C>T, NM_001319118.2:c.1220C>T, NM_001319118.1:c.1220C>T, NM_001319121.2:c.1103C>T, NM_001319121.1:c.1103C>T, NM_001319120.2:c.1154C>T, NM_001319120.1:c.1154C>T, NM_001319117.2:c.1178C>T, NM_001319117.1:c.1178C>T, NR_134970.2:n.1196C>T, NR_134970.1:n.1224C>T, NP_036232.2:p.Thr421Ile, NP_001306048.1:p.Thr407Ile, NP_001306045.1:p.Thr429Ile, NP_001306051.1:p.Thr368Ile, NP_001306047.1:p.Thr407Ile, NP_001306050.1:p.Thr368Ile, NP_001306049.1:p.Thr385Ile, NP_001306046.1:p.Thr393Ile

Select item 146639372814.

rs1466393728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:219383146 (GRCh38)
2:220247868 (GRCh37)
Canonical SPDI:: NC_000002.12:219383145:G:A,NC_000002.12:219383145:G:C
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219383146G>A, NC_000002.12:g.219383146G>C, NC_000002.11:g.220247868G>A, NC_000002.11:g.220247868G>C, NM_012100.4:c.921C>T, NM_012100.4:c.921C>G, NM_012100.3:c.921C>T, NM_012100.3:c.921C>G, NM_012100.2:c.921C>T, NM_012100.2:c.921C>G, NM_001319119.2:c.879C>T, NM_001319119.2:c.879C>G, NM_001319119.1:c.879C>T, NM_001319119.1:c.879C>G, NM_001319116.2:c.945C>T, NM_001319116.2:c.945C>G, NM_001319116.1:c.945C>T, NM_001319116.1:c.945C>G, NM_001319122.2:c.762C>T, NM_001319122.2:c.762C>G, NM_001319122.1:c.762C>T, NM_001319122.1:c.762C>G, NM_001319118.2:c.879C>T, NM_001319118.2:c.879C>G, NM_001319118.1:c.879C>T, NM_001319118.1:c.879C>G, NM_001319121.2:c.762C>T, NM_001319121.2:c.762C>G, NM_001319121.1:c.762C>T, NM_001319121.1:c.762C>G, NM_001319120.2:c.813C>T, NM_001319120.2:c.813C>G, NM_001319120.1:c.813C>T, NM_001319120.1:c.813C>G, NM_001319117.2:c.837C>T, NM_001319117.2:c.837C>G, NM_001319117.1:c.837C>T, NM_001319117.1:c.837C>G, NR_134970.2:n.855C>T, NR_134970.2:n.855C>G, NR_134970.1:n.883C>T, NR_134970.1:n.883C>G

Select item 146550690215.

rs1465506902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:219381431 (GRCh38)
2:220246153 (GRCh37)
Canonical SPDI:: NC_000002.12:219381430:G:A,NC_000002.12:219381430:G:C
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219381431G>A, NC_000002.12:g.219381431G>C, NC_000002.11:g.220246153G>A, NC_000002.11:g.220246153G>C, NM_012100.4:c.1143C>T, NM_012100.4:c.1143C>G, NM_012100.3:c.1143C>T, NM_012100.3:c.1143C>G, NM_012100.2:c.1143C>T, NM_012100.2:c.1143C>G, NM_001319119.2:c.1101C>T, NM_001319119.2:c.1101C>G, NM_001319119.1:c.1101C>T, NM_001319119.1:c.1101C>G, NM_001319116.2:c.1167C>T, NM_001319116.2:c.1167C>G, NM_001319116.1:c.1167C>T, NM_001319116.1:c.1167C>G, NM_001319122.2:c.984C>T, NM_001319122.2:c.984C>G, NM_001319122.1:c.984C>T, NM_001319122.1:c.984C>G, NM_001319118.2:c.1101C>T, NM_001319118.2:c.1101C>G, NM_001319118.1:c.1101C>T, NM_001319118.1:c.1101C>G, NM_001319121.2:c.984C>T, NM_001319121.2:c.984C>G, NM_001319121.1:c.984C>T, NM_001319121.1:c.984C>G, NM_001319120.2:c.1035C>T, NM_001319120.2:c.1035C>G, NM_001319120.1:c.1035C>T, NM_001319120.1:c.1035C>G, NM_001319117.2:c.1059C>T, NM_001319117.2:c.1059C>G, NM_001319117.1:c.1059C>T, NM_001319117.1:c.1059C>G, NR_134970.2:n.1077C>T, NR_134970.2:n.1077C>G, NR_134970.1:n.1105C>T, NR_134970.1:n.1105C>G

Select item 146530795516.

rs1465307955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219386004 (GRCh38)
2:220250726 (GRCh37)
Canonical SPDI:: NC_000002.12:219386003:A:G
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219386004A>G, NC_000002.11:g.220250726A>G, NM_012100.4:c.554T>C, NM_012100.3:c.554T>C, NM_012100.2:c.554T>C, NM_001319119.2:c.512T>C, NM_001319119.1:c.512T>C, NM_001319116.2:c.578T>C, NM_001319116.1:c.578T>C, NM_001319122.2:c.395T>C, NM_001319122.1:c.395T>C, NM_001319118.2:c.512T>C, NM_001319118.1:c.512T>C, NM_001319121.2:c.395T>C, NM_001319121.1:c.395T>C, NM_001319120.2:c.554T>C, NM_001319120.1:c.554T>C, NM_001319117.2:c.578T>C, NM_001319117.1:c.578T>C, NR_134970.2:n.672T>C, NR_134970.1:n.700T>C, NP_036232.2:p.Ile185Thr, NP_001306048.1:p.Ile171Thr, NP_001306045.1:p.Ile193Thr, NP_001306051.1:p.Ile132Thr, NP_001306047.1:p.Ile171Thr, NP_001306050.1:p.Ile132Thr, NP_001306049.1:p.Ile185Thr, NP_001306046.1:p.Ile193Thr

Select item 146287003417.

rs1462870034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219386693 (GRCh38)
2:220251415 (GRCh37)
Canonical SPDI:: NC_000002.12:219386692:C:T
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219386693C>T, NC_000002.11:g.220251415C>T, NM_012100.4:c.305G>A, NM_012100.3:c.305G>A, NM_012100.2:c.305G>A, NM_001319119.2:c.263G>A, NM_001319119.1:c.263G>A, NM_001319116.2:c.329G>A, NM_001319116.1:c.329G>A, NM_001319122.2:c.146G>A, NM_001319122.1:c.146G>A, NM_001319118.2:c.263G>A, NM_001319118.1:c.263G>A, NM_001319121.2:c.146G>A, NM_001319121.1:c.146G>A, NM_001319120.2:c.305G>A, NM_001319120.1:c.305G>A, NM_001319117.2:c.329G>A, NM_001319117.1:c.329G>A, NR_134970.2:n.423G>A, NR_134970.1:n.451G>A, NP_036232.2:p.Gly102Glu, NP_001306048.1:p.Gly88Glu, NP_001306045.1:p.Gly110Glu, NP_001306051.1:p.Gly49Glu, NP_001306047.1:p.Gly88Glu, NP_001306050.1:p.Gly49Glu, NP_001306049.1:p.Gly102Glu, NP_001306046.1:p.Gly110Glu

Select item 145982494418.

rs1459824944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:219382122 (GRCh38)
2:220246844 (GRCh37)
Canonical SPDI:: NC_000002.12:219382121:T:G
Gene:: DNPEP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219382122T>G, NC_000002.11:g.220246844T>G, NM_012100.4:c.954A>C, NM_012100.3:c.954A>C, NM_012100.2:c.954A>C, NM_001319119.2:c.912A>C, NM_001319119.1:c.912A>C, NM_001319116.2:c.978A>C, NM_001319116.1:c.978A>C, NM_001319122.2:c.795A>C, NM_001319122.1:c.795A>C, NM_001319118.2:c.912A>C, NM_001319118.1:c.912A>C, NM_001319121.2:c.795A>C, NM_001319121.1:c.795A>C, NM_001319120.2:c.846A>C, NM_001319120.1:c.846A>C, NM_001319117.2:c.870A>C, NM_001319117.1:c.870A>C, NR_134970.2:n.888A>C, NR_134970.1:n.916A>C

Select item 145975718019.

rs1459757180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219386058 (GRCh38)
2:220250780 (GRCh37)
Canonical SPDI:: NC_000002.12:219386057:A:G
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219386058A>G, NC_000002.11:g.220250780A>G, NM_012100.4:c.500T>C, NM_012100.3:c.500T>C, NM_012100.2:c.500T>C, NM_001319119.2:c.458T>C, NM_001319119.1:c.458T>C, NM_001319116.2:c.524T>C, NM_001319116.1:c.524T>C, NM_001319122.2:c.341T>C, NM_001319122.1:c.341T>C, NM_001319118.2:c.458T>C, NM_001319118.1:c.458T>C, NM_001319121.2:c.341T>C, NM_001319121.1:c.341T>C, NM_001319120.2:c.500T>C, NM_001319120.1:c.500T>C, NM_001319117.2:c.524T>C, NM_001319117.1:c.524T>C, NR_134970.2:n.618T>C, NR_134970.1:n.646T>C, NP_036232.2:p.Val167Ala, NP_001306048.1:p.Val153Ala, NP_001306045.1:p.Val175Ala, NP_001306051.1:p.Val114Ala, NP_001306047.1:p.Val153Ala, NP_001306050.1:p.Val114Ala, NP_001306049.1:p.Val167Ala, NP_001306046.1:p.Val175Ala

Select item 145974293020.

rs1459742930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219374961 (GRCh38)
2:220239683 (GRCh37)
Canonical SPDI:: NC_000002.12:219374960:C:T
Gene:: DNPEP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.219374961C>T, NC_000002.11:g.220239683C>T, NM_012100.4:c.1301G>A, NM_012100.3:c.1301G>A, NM_012100.2:c.1301G>A, NM_001319119.2:c.1259G>A, NM_001319119.1:c.1259G>A, NM_001319116.2:c.1325G>A, NM_001319116.1:c.1325G>A, NM_001319122.2:c.1142G>A, NM_001319122.1:c.1142G>A, NM_001319118.2:c.1259G>A, NM_001319118.1:c.1259G>A, NM_001319121.2:c.1142G>A, NM_001319121.1:c.1142G>A, NM_001319120.2:c.1193G>A, NM_001319120.1:c.1193G>A, NM_001319117.2:c.1217G>A, NM_001319117.1:c.1217G>A, NR_134970.2:n.1235G>A, NR_134970.1:n.1263G>A, NP_036232.2:p.Arg434Gln, NP_001306048.1:p.Arg420Gln, NP_001306045.1:p.Arg442Gln, NP_001306051.1:p.Arg381Gln, NP_001306047.1:p.Arg420Gln, NP_001306050.1:p.Arg381Gln, NP_001306049.1:p.Arg398Gln, NP_001306046.1:p.Arg406Gln

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