SNP Links for Protein (Select 627469453) - SNP

Select item 14908406271.

rs1490840627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:195721013 (GRCh38)
3:195447884 (GRCh37)
Canonical SPDI:: NC_000003.12:195721012:C:T
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000003.12:g.195721013C>T, NC_000003.11:g.195447884C>T, NG_033877.1:g.5132C>T, NM_152673.3:c.6C>T, NM_152673.2:c.6C>T, NM_001282506.2:c.6C>T, NM_001282506.1:c.6C>T, NM_020790.1:c.6C>T, NM_001291833.1:c.6C>T, NT_187689.1:g.91510C>T, NT_187678.1:g.75031G>A, NT_187532.1:g.91510C>T, NT_187691.1:g.73408G>A, NT_187649.1:g.73188G>A, NT_187688.1:g.73187G>A, NT_187690.1:g.73185G>A

Select item 14904192522.

rs1490419252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:195725648 (GRCh38)
3:195452519 (GRCh37)
Canonical SPDI:: NC_000003.12:195725647:G:A
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00022/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.195725648G>A, NC_000003.11:g.195452519G>A, NG_033877.1:g.9767G>A, NM_001282506.2:c.1045G>A, NM_001282506.1:c.1045G>A, NM_020790.1:c.589G>A, NM_001291833.1:c.529G>A, NT_187689.1:g.96145G>A, NT_187678.1:g.70396C>T, NT_187532.1:g.96145G>A, NT_187691.1:g.69216C>T, NT_187690.1:g.69055C>T, NP_001269435.1:p.Ala349Thr

Select item 14890738353.

rs1489073835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:195726162 (GRCh38)
3:195453033 (GRCh37)
Canonical SPDI:: NC_000003.12:195726161:G:A,NC_000003.12:195726161:G:C
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.195726162G>A, NC_000003.12:g.195726162G>C, NC_000003.11:g.195453033G>A, NC_000003.11:g.195453033G>C, NG_033877.1:g.10281G>A, NG_033877.1:g.10281G>C, NM_152673.3:c.1046G>A, NM_152673.3:c.1046G>C, NM_152673.2:c.1046G>A, NM_152673.2:c.1046G>C, NM_001282506.2:c.1559G>A, NM_001282506.2:c.1559G>C, NM_001282506.1:c.1559G>A, NM_001282506.1:c.1559G>C, NM_020790.1:c.1103G>A, NM_020790.1:c.1103G>C, NM_001291833.1:c.1037G>A, NM_001291833.1:c.1037G>C, NT_187689.1:g.96659G>A, NT_187689.1:g.96659G>C, NT_187678.1:g.69882C>T, NT_187678.1:g.69882C>G, NT_187532.1:g.96659G>A, NT_187532.1:g.96659G>C, NT_187691.1:g.68702C>T, NT_187691.1:g.68702C>G, NT_187649.1:g.68538C>T, NT_187649.1:g.68538C>G, NT_187688.1:g.68538C>T, NT_187688.1:g.68538C>G, NT_187690.1:g.68547C>T, NT_187690.1:g.68547C>G, NM_001098516.1:c.941G>A, NM_001098516.1:c.941G>C, NP_001269435.1:p.Gly520Glu, NP_001269435.1:p.Gly520Ala

Select item 14887307864.

rs1488730786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:195725115 (GRCh38)
3:195451986 (GRCh37)
Canonical SPDI:: NC_000003.12:195725114:G:T
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.195725115G>T, NC_000003.11:g.195451986G>T, NG_033877.1:g.9234G>T, NM_152673.3:c.512G>T, NM_152673.2:c.512G>T, NM_001282506.2:c.512G>T, NM_001282506.1:c.512G>T, NM_020790.1:c.512G>T, NM_001291833.1:c.509G>T, NT_187689.1:g.95612G>T, NT_187678.1:g.70929C>A, NT_187532.1:g.95612G>T, NT_187691.1:g.69293C>A, NT_187649.1:g.69072C>A, NT_187688.1:g.69072C>A, NT_187690.1:g.69075C>A, NM_001098516.1:c.407G>T, NP_001269435.1:p.Gly171Val

Select item 14887086345.

rs1488708634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:195726211 (GRCh38)
3:195453082 (GRCh37)
Canonical SPDI:: NC_000003.12:195726210:C:G,NC_000003.12:195726210:C:T
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.195726211C>G, NC_000003.12:g.195726211C>T, NC_000003.11:g.195453082C>G, NC_000003.11:g.195453082C>T, NG_033877.1:g.10330C>G, NG_033877.1:g.10330C>T, NM_152673.3:c.1095C>G, NM_152673.3:c.1095C>T, NM_152673.2:c.1095C>G, NM_152673.2:c.1095C>T, NM_001282506.2:c.1608C>G, NM_001282506.2:c.1608C>T, NM_001282506.1:c.1608C>G, NM_001282506.1:c.1608C>T, NM_020790.1:c.1146C>G, NM_020790.1:c.1146C>T, NM_001291833.1:c.1086C>G, NM_001291833.1:c.1086C>T, NT_187689.1:g.96708C>G, NT_187689.1:g.96708C>T, NT_187678.1:g.69833G>C, NT_187678.1:g.69833G>A, NT_187532.1:g.96708C>G, NT_187532.1:g.96708C>T, NT_187691.1:g.68659G>C, NT_187691.1:g.68659G>A, NT_187649.1:g.68489G>C, NT_187649.1:g.68489G>A, NT_187688.1:g.68489G>C, NT_187688.1:g.68489G>A, NT_187690.1:g.68498G>C, NT_187690.1:g.68498G>A, NM_001098516.1:c.990C>G, NM_001098516.1:c.990C>T

Select item 14880958786.

rs1488095878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:195726343 (GRCh38)
3:195453214 (GRCh37)
Canonical SPDI:: NC_000003.12:195726342:C:T
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.195726343C>T, NC_000003.11:g.195453214C>T, NG_033877.1:g.10462C>T, NM_152673.3:c.1227C>T, NM_152673.2:c.1227C>T, NM_001282506.2:c.1740C>T, NM_001282506.1:c.1740C>T, NM_020790.1:c.1278C>T, NM_001291833.1:c.1218C>T, NT_187689.1:g.96840C>T, NT_187678.1:g.69701G>A, NT_187532.1:g.96840C>T, NT_187691.1:g.68527G>A, NT_187649.1:g.68357G>A, NT_187688.1:g.68357G>A, NT_187690.1:g.68366G>A, NM_001098516.1:c.1122C>T

Select item 14857615007.

rs1485761500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:195726127 (GRCh38)
3:195452998 (GRCh37)
Canonical SPDI:: NC_000003.12:195726126:A:T
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.195726127A>T, NC_000003.11:g.195452998A>T, NG_033877.1:g.10246A>T, NM_152673.3:c.1011A>T, NM_152673.2:c.1011A>T, NM_001282506.2:c.1524A>T, NM_001282506.1:c.1524A>T, NM_020790.1:c.1068A>T, NM_001291833.1:c.1002A>T, NT_187689.1:g.96624A>T, NT_187678.1:g.69917T>A, NT_187532.1:g.96624A>T, NT_187691.1:g.68737T>A, NT_187649.1:g.68573T>A, NT_187688.1:g.68573T>A, NT_187690.1:g.68582T>A, NM_001098516.1:c.906A>T, NP_001269435.1:p.Arg508Ser

Select item 14856124648.

rs1485612464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:195724950 (GRCh38)
3:195451821 (GRCh37)
Canonical SPDI:: NC_000003.12:195724949:G:A,NC_000003.12:195724949:G:T
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.195724950G>A, NC_000003.12:g.195724950G>T, NC_000003.11:g.195451821G>A, NC_000003.11:g.195451821G>T, NG_033877.1:g.9069G>A, NG_033877.1:g.9069G>T, NM_152673.3:c.347G>A, NM_152673.3:c.347G>T, NM_152673.2:c.347G>A, NM_152673.2:c.347G>T, NM_001282506.2:c.347G>A, NM_001282506.2:c.347G>T, NM_001282506.1:c.347G>A, NM_001282506.1:c.347G>T, NM_020790.1:c.347G>A, NM_020790.1:c.347G>T, NM_001291833.1:c.344G>A, NM_001291833.1:c.344G>T, NT_187689.1:g.95447G>A, NT_187689.1:g.95447G>T, NT_187678.1:g.71094C>T, NT_187678.1:g.71094C>A, NT_187532.1:g.95447G>A, NT_187532.1:g.95447G>T, NT_187691.1:g.69458C>T, NT_187691.1:g.69458C>A, NT_187649.1:g.69237C>T, NT_187649.1:g.69237C>A, NT_187688.1:g.69237C>T, NT_187688.1:g.69237C>A, NT_187690.1:g.69240C>T, NT_187690.1:g.69240C>A, NM_001098516.1:c.242G>A, NM_001098516.1:c.242G>T, NP_001269435.1:p.Ser116Asn, NP_001269435.1:p.Ser116Ile

Select item 14855847139.

rs1485584713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:195725918 (GRCh38)
3:195452789 (GRCh37)
Canonical SPDI:: NC_000003.12:195725917:G:A
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.195725918G>A, NC_000003.11:g.195452789G>A, NG_033877.1:g.10037G>A, NM_152673.3:c.802G>A, NM_152673.2:c.802G>A, NM_001282506.2:c.1315G>A, NM_001282506.1:c.1315G>A, NM_020790.1:c.859G>A, NM_001291833.1:c.793G>A, NT_187689.1:g.96415G>A, NT_187678.1:g.70126C>T, NT_187532.1:g.96415G>A, NT_187691.1:g.68946C>T, NT_187649.1:g.68782C>T, NT_187688.1:g.68782C>T, NT_187690.1:g.68791C>T, NM_001098516.1:c.697G>A, NP_001269435.1:p.Ala439Thr

Select item 148429037210.

rs1484290372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:195726269 (GRCh38)
3:195453140 (GRCh37)
Canonical SPDI:: NC_000003.12:195726268:G:T
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.195726269G>T, NC_000003.11:g.195453140G>T, NG_033877.1:g.10388G>T, NM_152673.3:c.1153G>T, NM_152673.2:c.1153G>T, NM_001282506.2:c.1666G>T, NM_001282506.1:c.1666G>T, NM_020790.1:c.1204G>T, NM_001291833.1:c.1144G>T, NT_187689.1:g.96766G>T, NT_187678.1:g.69775C>A, NT_187532.1:g.96766G>T, NT_187691.1:g.68601C>A, NT_187649.1:g.68431C>A, NT_187688.1:g.68431C>A, NT_187690.1:g.68440C>A, NM_001098516.1:c.1048G>T, NP_001269435.1:p.Ala556Ser

Select item 148388735011.

rs1483887350 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 3:195726202 (GRCh38)
3:195453073 (GRCh37)
Canonical SPDI:: NC_000003.12:195726200:CCTC:C
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.195726202_195726204del, NC_000003.11:g.195453073_195453075del, NG_033877.1:g.10321_10323del, NM_152673.3:c.1086_1088del, NM_152673.2:c.1086_1088del, NM_001282506.2:c.1599_1601del, NM_001282506.1:c.1599_1601del, NM_020790.1:c.1137_1139del, NM_001291833.1:c.1077_1079del, NT_187689.1:g.96699_96701del, NT_187678.1:g.69841_69843del, NT_187532.1:g.96699_96701del, NT_187691.1:g.68667_68669del, NT_187649.1:g.68497_68499del, NT_187688.1:g.68497_68499del, NT_187690.1:g.68506_68508del, NM_001098516.1:c.981_983del, NP_001269435.1:p.Ser534del

Select item 148232606812.

rs1482326068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:195725763 (GRCh38)
3:195452634 (GRCh37)
Canonical SPDI:: NC_000003.12:195725762:C:T
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.195725763C>T, NC_000003.11:g.195452634C>T, NG_033877.1:g.9882C>T, NM_001282506.2:c.1160C>T, NM_001282506.1:c.1160C>T, NM_020790.1:c.704C>T, NM_001291833.1:c.644C>T, NT_187689.1:g.96260C>T, NT_187678.1:g.70281G>A, NT_187532.1:g.96260C>T, NT_187691.1:g.69101G>A, NT_187690.1:g.68940G>A, NP_001269435.1:p.Ala387Val

Select item 148164392613.

rs1481643926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:195725005 (GRCh38)
3:195451876 (GRCh37)
Canonical SPDI:: NC_000003.12:195725004:T:A,NC_000003.12:195725004:T:C
Gene:: MUC20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.195725005T>A, NC_000003.12:g.195725005T>C, NC_000003.11:g.195451876T>A, NC_000003.11:g.195451876T>C, NG_033877.1:g.9124T>A, NG_033877.1:g.9124T>C, NM_152673.3:c.402T>A, NM_152673.3:c.402T>C, NM_152673.2:c.402T>A, NM_152673.2:c.402T>C, NM_001282506.2:c.402T>A, NM_001282506.2:c.402T>C, NM_001282506.1:c.402T>A, NM_001282506.1:c.402T>C, NM_020790.1:c.402T>A, NM_020790.1:c.402T>C, NM_001291833.1:c.399T>A, NM_001291833.1:c.399T>C, NT_187689.1:g.95502T>A, NT_187689.1:g.95502T>C, NT_187678.1:g.71039A>T, NT_187678.1:g.71039A>G, NT_187532.1:g.95502T>A, NT_187532.1:g.95502T>C, NT_187691.1:g.69403A>T, NT_187691.1:g.69403A>G, NT_187649.1:g.69182A>T, NT_187649.1:g.69182A>G, NT_187688.1:g.69182A>T, NT_187688.1:g.69182A>G, NT_187690.1:g.69185A>T, NT_187690.1:g.69185A>G, NM_001098516.1:c.297T>A, NM_001098516.1:c.297T>C, NP_001269435.1:p.Asp134Glu

Select item 148125522614.

rs1481255226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:195726027 (GRCh38)
3:195452898 (GRCh37)
Canonical SPDI:: NC_000003.12:195726026:C:T
Gene:: MUC20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.195726027C>T, NC_000003.11:g.195452898C>T, NG_033877.1:g.10146C>T, NM_152673.3:c.911C>T, NM_152673.2:c.911C>T, NM_001282506.2:c.1424C>T, NM_001282506.1:c.1424C>T, NM_020790.1:c.968C>T, NM_001291833.1:c.902C>T, NT_187689.1:g.96524C>T, NT_187678.1:g.70017G>A, NT_187532.1:g.96524C>T, NT_187691.1:g.68837G>A, NT_187649.1:g.68673G>A, NT_187688.1:g.68673G>A, NT_187690.1:g.68682G>A, NM_001098516.1:c.806C>T, NP_001269435.1:p.Thr475Ile

Select item 147978832115.

rs1479788321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:195726379 (GRCh38)
3:195453250 (GRCh37)
Canonical SPDI:: NC_000003.12:195726378:G:A,NC_000003.12:195726378:G:T
Gene:: MUC20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.195726379G>A, NC_000003.12:g.195726379G>T, NC_000003.11:g.195453250G>A, NC_000003.11:g.195453250G>T, NG_033877.1:g.10498G>A, NG_033877.1:g.10498G>T, NM_152673.3:c.1263G>A, NM_152673.3:c.1263G>T, NM_152673.2:c.1263G>A, NM_152673.2:c.1263G>T, NM_001282506.2:c.1776G>A, NM_001282506.2:c.1776G>T, NM_001282506.1:c.1776G>A, NM_001282506.1:c.1776G>T, NM_020790.1:c.1314G>A, NM_020790.1:c.1314G>T, NM_001291833.1:c.1254G>A, NM_001291833.1:c.1254G>T, NT_187689.1:g.96876G>A, NT_187689.1:g.96876G>T, NT_187678.1:g.69665C>T, NT_187678.1:g.69665C>A, NT_187532.1:g.96876G>A, NT_187532.1:g.96876G>T, NT_187691.1:g.68491C>T, NT_187691.1:g.68491C>A, NT_187649.1:g.68321C>T, NT_187649.1:g.68321C>A, NT_187688.1:g.68321C>T, NT_187688.1:g.68321C>A, NT_187690.1:g.68330C>T, NT_187690.1:g.68330C>A, NM_001098516.1:c.1158G>A, NM_001098516.1:c.1158G>T, NP_001269435.1:p.Met592Ile, NP_001269435.1:p.Met592Ile

Select item 147965594816.

rs1479655948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:195726351 (GRCh38)
3:195453222 (GRCh37)
Canonical SPDI:: NC_000003.12:195726350:A:T
Gene:: MUC20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.195726351A>T, NC_000003.11:g.195453222A>T, NG_033877.1:g.10470A>T, NM_152673.3:c.1235A>T, NM_152673.2:c.1235A>T, NM_001282506.2:c.1748A>T, NM_001282506.1:c.1748A>T, NM_020790.1:c.1286A>T, NM_001291833.1:c.1226A>T, NT_187689.1:g.96848A>T, NT_187678.1:g.69693T>A, NT_187532.1:g.96848A>T, NT_187691.1:g.68519T>A, NT_187649.1:g.68349T>A, NT_187688.1:g.68349T>A, NT_187690.1:g.68358T>A, NM_001098516.1:c.1130A>T, NP_001269435.1:p.Asn583Ile

Select item 147879897117.

rs1478798971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:195726511 (GRCh38)
3:195453382 (GRCh37)
Canonical SPDI:: NC_000003.12:195726510:G:A
Gene:: MUC20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.195726511G>A, NC_000003.11:g.195453382G>A, NG_033877.1:g.10630G>A, NM_152673.3:c.1395G>A, NM_152673.2:c.1395G>A, NM_001282506.2:c.1908G>A, NM_001282506.1:c.1908G>A, NM_020790.1:c.1446G>A, NM_001291833.1:c.1386G>A, NT_187689.1:g.97008G>A, NT_187678.1:g.69533C>T, NT_187532.1:g.97008G>A, NT_187691.1:g.68359C>T, NT_187649.1:g.68189C>T, NT_187688.1:g.68189C>T, NT_187690.1:g.68198C>T, NM_001098516.1:c.1290G>A, NP_001269435.1:p.Met636Ile

Select item 147816610418.

rs1478166104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:195724716 (GRCh38)
3:195451587 (GRCh37)
Canonical SPDI:: NC_000003.12:195724715:C:T
Gene:: MUC20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0./0 (KOREAN)
HGVS:: NC_000003.12:g.195724716C>T, NC_000003.11:g.195451587C>T, NG_033877.1:g.8835C>T, NM_152673.3:c.113C>T, NM_152673.2:c.113C>T, NM_001282506.2:c.113C>T, NM_001282506.1:c.113C>T, NM_020790.1:c.113C>T, NM_001291833.1:c.110C>T, NT_187689.1:g.95213C>T, NT_187678.1:g.71328G>A, NT_187532.1:g.95213C>T, NT_187691.1:g.69692G>A, NT_187649.1:g.69471G>A, NT_187688.1:g.69471G>A, NT_187690.1:g.69474G>A, NM_001098516.1:c.8C>T, NP_001269435.1:p.Thr38Met

Select item 147683159319.

rs1476831593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:195733206 (GRCh38)
3:195460077 (GRCh37)
Canonical SPDI:: NC_000003.12:195733205:C:A
Gene:: MUC20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.195733206C>A, NC_000003.11:g.195460077C>A, NG_033877.1:g.17325C>A, NM_152673.3:c.1605C>A, NM_152673.2:c.1605C>A, NM_001282506.2:c.2118C>A, NM_001282506.1:c.2118C>A, NM_020790.1:c.1656C>A, NM_001291833.1:c.1596C>A, NT_187689.1:g.103703C>A, NT_187678.1:g.62838G>T, NT_187532.1:g.103703C>A, NT_187691.1:g.61665G>T, NT_187649.1:g.61530G>T, NT_187688.1:g.61530G>T, NT_187690.1:g.61537G>T, NM_001098516.1:c.1500C>A

Select item 147389771320.

rs1473897713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:195726359 (GRCh38)
3:195453230 (GRCh37)
Canonical SPDI:: NC_000003.12:195726358:C:A
Gene:: MUC20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.195726359C>A, NC_000003.11:g.195453230C>A, NG_033877.1:g.10478C>A, NM_152673.3:c.1243C>A, NM_152673.2:c.1243C>A, NM_001282506.2:c.1756C>A, NM_001282506.1:c.1756C>A, NM_020790.1:c.1294C>A, NM_001291833.1:c.1234C>A, NT_187689.1:g.96856C>A, NT_187678.1:g.69685G>T, NT_187532.1:g.96856C>A, NT_187691.1:g.68511G>T, NT_187649.1:g.68341G>T, NT_187688.1:g.68341G>T, NT_187690.1:g.68350G>T, NM_001098516.1:c.1138C>A, NP_001269435.1:p.Pro586Thr

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

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Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 795

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