SNP Links for Protein (Select 133908629) - SNP

Select item 14897884331.

rs1489788433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:50094505 (GRCh38)
12:50488288 (GRCh37)
Canonical SPDI:: NC_000012.12:50094504:A:G
Gene:: SMARCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50094505A>G, NC_000012.11:g.50488288A>G, NM_003076.5:c.1202A>G, NM_003076.4:c.1202A>G, XM_005269107.5:c.1079A>G, XM_005269107.4:c.1079A>G, XM_005269107.3:c.1079A>G, XM_005269107.2:c.1451A>G, XM_005269107.1:c.1451A>G, NM_139071.3:c.1202A>G, NM_139071.2:c.1202A>G, XR_944683.3:n.1230A>G, XR_944683.2:n.1336A>G, XR_944683.1:n.1372A>G, XR_944684.3:n.1230A>G, XR_944684.2:n.1336A>G, XR_944684.1:n.1372A>G, XM_047429450.1:c.1079A>G, XR_007063118.1:n.1107A>G, XR_007063120.1:n.1230A>G, XR_007063119.1:n.1107A>G, XR_007063121.1:n.1107A>G, NP_003067.3:p.Lys401Arg, XP_005269164.2:p.Lys360Arg, NP_620710.2:p.Lys401Arg, XP_047285406.1:p.Lys360Arg

Select item 14846259022.

rs1484625902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:50085485 (GRCh38)
12:50479268 (GRCh37)
Canonical SPDI:: NC_000012.12:50085484:G:T
Gene:: SMARCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.50085485G>T, NC_000012.11:g.50479268G>T, NM_003076.5:c.116G>T, NM_003076.4:c.116G>T, XM_005269107.5:c.116G>T, XM_005269107.4:c.116G>T, XM_005269107.3:c.116G>T, XM_005269107.2:c.488G>T, XM_005269107.1:c.488G>T, NM_139071.3:c.116G>T, NM_139071.2:c.116G>T, XR_944683.3:n.144G>T, XR_944683.2:n.250G>T, XR_944683.1:n.286G>T, XR_944684.3:n.144G>T, XR_944684.2:n.250G>T, XR_944684.1:n.286G>T, XM_011538695.3:c.116G>T, XM_011538695.2:c.116G>T, XM_011538695.1:c.116G>T, XM_047429450.1:c.116G>T, XR_007063118.1:n.144G>T, XR_007063120.1:n.144G>T, XR_007063119.1:n.144G>T, XR_007063121.1:n.144G>T, NP_003067.3:p.Arg39Leu, XP_005269164.2:p.Arg39Leu, NP_620710.2:p.Arg39Leu, XP_011536997.1:p.Arg39Leu, XP_047285406.1:p.Arg39Leu

Select item 14842694873.

rs1484269487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50085458 (GRCh38)
12:50479241 (GRCh37)
Canonical SPDI:: NC_000012.12:50085457:C:T
Gene:: SMARCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.50085458C>T, NC_000012.11:g.50479241C>T, NM_003076.5:c.89C>T, NM_003076.4:c.89C>T, XM_005269107.5:c.89C>T, XM_005269107.4:c.89C>T, XM_005269107.3:c.89C>T, XM_005269107.2:c.461C>T, XM_005269107.1:c.461C>T, NM_139071.3:c.89C>T, NM_139071.2:c.89C>T, XR_944683.3:n.117C>T, XR_944683.2:n.223C>T, XR_944683.1:n.259C>T, XR_944684.3:n.117C>T, XR_944684.2:n.223C>T, XR_944684.1:n.259C>T, XM_011538695.3:c.89C>T, XM_011538695.2:c.89C>T, XM_011538695.1:c.89C>T, XM_047429450.1:c.89C>T, XR_007063118.1:n.117C>T, XR_007063120.1:n.117C>T, XR_007063119.1:n.117C>T, XR_007063121.1:n.117C>T, NP_003067.3:p.Pro30Leu, XP_005269164.2:p.Pro30Leu, NP_620710.2:p.Pro30Leu, XP_011536997.1:p.Pro30Leu, XP_047285406.1:p.Pro30Leu

Select item 14832632104.

rs1483263210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:50098961 (GRCh38)
12:50492744 (GRCh37)
Canonical SPDI:: NC_000012.12:50098960:A:G
Gene:: SMARCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.50098961A>G, NC_000012.11:g.50492744A>G, NG_032168.1:g.143A>G, NM_003076.5:c.1509A>G, NM_003076.4:c.1509A>G, XM_005269107.5:c.1386A>G, XM_005269107.4:c.1386A>G, XM_005269107.3:c.1386A>G, XM_005269107.2:c.1758A>G, XM_005269107.1:c.1758A>G, NM_139071.3:c.1386A>G, NM_139071.2:c.1386A>G, XR_944683.3:n.1537A>G, XR_944683.2:n.1643A>G, XR_944683.1:n.1679A>G, XR_944684.3:n.1537A>G, XR_944684.2:n.1643A>G, XR_944684.1:n.1679A>G, XM_047429450.1:c.1263A>G, XR_007063118.1:n.1414A>G, XR_007063120.1:n.1414A>G, XR_007063119.1:n.1414A>G, XR_007063121.1:n.1291A>G

Select item 14810088625.

rs1481008862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50087482 (GRCh38)
12:50481265 (GRCh37)
Canonical SPDI:: NC_000012.12:50087481:G:A
Gene:: SMARCD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50087482G>A, NC_000012.11:g.50481265G>A, NM_003076.5:c.651G>A, NM_003076.4:c.651G>A, NM_139071.3:c.651G>A, NM_139071.2:c.651G>A, XR_944683.3:n.679G>A, XR_944683.2:n.785G>A, XR_944683.1:n.821G>A, XR_944684.3:n.679G>A, XR_944684.2:n.785G>A, XR_944684.1:n.821G>A, XM_011538695.3:c.651G>A, XM_011538695.2:c.651G>A, XM_011538695.1:c.651G>A, XR_007063120.1:n.679G>A

Select item 14765016446.

rs1476501644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50089977 (GRCh38)
12:50483760 (GRCh37)
Canonical SPDI:: NC_000012.12:50089976:G:A
Gene:: SMARCD1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.50089977G>A, NC_000012.11:g.50483760G>A, NM_003076.5:c.865G>A, NM_003076.4:c.865G>A, XM_005269107.5:c.742G>A, XM_005269107.4:c.742G>A, XM_005269107.3:c.742G>A, XM_005269107.2:c.1114G>A, XM_005269107.1:c.1114G>A, NM_139071.3:c.865G>A, NM_139071.2:c.865G>A, XR_944683.3:n.893G>A, XR_944683.2:n.999G>A, XR_944683.1:n.1035G>A, XR_944684.3:n.893G>A, XR_944684.2:n.999G>A, XR_944684.1:n.1035G>A, XM_047429450.1:c.742G>A, XR_007063118.1:n.770G>A, XR_007063120.1:n.893G>A, XR_007063119.1:n.770G>A, XR_007063121.1:n.770G>A, NP_003067.3:p.Asp289Asn, XP_005269164.2:p.Asp248Asn, NP_620710.2:p.Asp289Asn, XP_047285406.1:p.Asp248Asn

Select item 14739442647.

rs1473944264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:50088592 (GRCh38)
12:50482375 (GRCh37)
Canonical SPDI:: NC_000012.12:50088591:T:C
Gene:: SMARCD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50088592T>C, NC_000012.11:g.50482375T>C, NM_003076.5:c.726T>C, NM_003076.4:c.726T>C, XM_005269107.5:c.603T>C, XM_005269107.4:c.603T>C, XM_005269107.3:c.603T>C, XM_005269107.2:c.975T>C, XM_005269107.1:c.975T>C, NM_139071.3:c.726T>C, NM_139071.2:c.726T>C, XR_944683.3:n.754T>C, XR_944683.2:n.860T>C, XR_944683.1:n.896T>C, XR_944684.3:n.754T>C, XR_944684.2:n.860T>C, XR_944684.1:n.896T>C, XM_011538695.3:c.726T>C, XM_011538695.2:c.726T>C, XM_011538695.1:c.726T>C, XM_047429450.1:c.603T>C, XR_007063118.1:n.631T>C, XR_007063120.1:n.754T>C, XR_007063119.1:n.631T>C, XR_007063121.1:n.631T>C

Select item 14732351538.

rs1473235153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:50096892 (GRCh38)
12:50490675 (GRCh37)
Canonical SPDI:: NC_000012.12:50096891:C:A,NC_000012.12:50096891:C:G,NC_000012.12:50096891:C:T
Gene:: SMARCD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50096892C>A, NC_000012.12:g.50096892C>G, NC_000012.12:g.50096892C>T, NC_000012.11:g.50490675C>A, NC_000012.11:g.50490675C>G, NC_000012.11:g.50490675C>T, NM_003076.5:c.1312C>A, NM_003076.5:c.1312C>G, NM_003076.5:c.1312C>T, NM_003076.4:c.1312C>A, NM_003076.4:c.1312C>G, NM_003076.4:c.1312C>T, XM_005269107.5:c.1189C>A, XM_005269107.5:c.1189C>G, XM_005269107.5:c.1189C>T, XM_005269107.4:c.1189C>A, XM_005269107.4:c.1189C>G, XM_005269107.4:c.1189C>T, XM_005269107.3:c.1189C>A, XM_005269107.3:c.1189C>G, XM_005269107.3:c.1189C>T, XM_005269107.2:c.1561C>A, XM_005269107.2:c.1561C>G, XM_005269107.2:c.1561C>T, XM_005269107.1:c.1561C>A, XM_005269107.1:c.1561C>G, XM_005269107.1:c.1561C>T, XR_944683.3:n.1340C>A, XR_944683.3:n.1340C>G, XR_944683.3:n.1340C>T, XR_944683.2:n.1446C>A, XR_944683.2:n.1446C>G, XR_944683.2:n.1446C>T, XR_944683.1:n.1482C>A, XR_944683.1:n.1482C>G, XR_944683.1:n.1482C>T, XR_944684.3:n.1340C>A, XR_944684.3:n.1340C>G, XR_944684.3:n.1340C>T, XR_944684.2:n.1446C>A, XR_944684.2:n.1446C>G, XR_944684.2:n.1446C>T, XR_944684.1:n.1482C>A, XR_944684.1:n.1482C>G, XR_944684.1:n.1482C>T, XR_007063118.1:n.1217C>A, XR_007063118.1:n.1217C>G, XR_007063118.1:n.1217C>T, XR_007063119.1:n.1217C>A, XR_007063119.1:n.1217C>G, XR_007063119.1:n.1217C>T, NP_003067.3:p.Arg438Gly, NP_003067.3:p.Arg438Trp, XP_005269164.2:p.Arg397Gly, XP_005269164.2:p.Arg397Trp

Select item 14705112799.

rs1470511279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50086821 (GRCh38)
12:50480604 (GRCh37)
Canonical SPDI:: NC_000012.12:50086820:C:T
Gene:: SMARCD1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.50086821C>T, NC_000012.11:g.50480604C>T, NM_003076.5:c.474C>T, NM_003076.4:c.474C>T, XM_005269107.5:c.474C>T, XM_005269107.4:c.474C>T, XM_005269107.3:c.474C>T, XM_005269107.2:c.846C>T, XM_005269107.1:c.846C>T, NM_139071.3:c.474C>T, NM_139071.2:c.474C>T, XR_944683.3:n.502C>T, XR_944683.2:n.608C>T, XR_944683.1:n.644C>T, XR_944684.3:n.502C>T, XR_944684.2:n.608C>T, XR_944684.1:n.644C>T, XM_011538695.3:c.474C>T, XM_011538695.2:c.474C>T, XM_011538695.1:c.474C>T, XM_047429450.1:c.474C>T, XR_007063118.1:n.502C>T, XR_007063120.1:n.502C>T, XR_007063119.1:n.502C>T, XR_007063121.1:n.502C>T

Select item 146626974910.

rs1466269749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:50089973 (GRCh38)
12:50483756 (GRCh37)
Canonical SPDI:: NC_000012.12:50089972:G:C
Gene:: SMARCD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_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_000012.12:g.50089973G>C, NC_000012.11:g.50483756G>C, NM_003076.5:c.861G>C, NM_003076.4:c.861G>C, XM_005269107.5:c.738G>C, XM_005269107.4:c.738G>C, XM_005269107.3:c.738G>C, XM_005269107.2:c.1110G>C, XM_005269107.1:c.1110G>C, NM_139071.3:c.861G>C, NM_139071.2:c.861G>C, XR_944683.3:n.889G>C, XR_944683.2:n.995G>C, XR_944683.1:n.1031G>C, XR_944684.3:n.889G>C, XR_944684.2:n.995G>C, XR_944684.1:n.1031G>C, XM_047429450.1:c.738G>C, XR_007063118.1:n.766G>C, XR_007063120.1:n.889G>C, XR_007063119.1:n.766G>C, XR_007063121.1:n.766G>C, NP_003067.3:p.Met287Ile, XP_005269164.2:p.Met246Ile, NP_620710.2:p.Met287Ile, XP_047285406.1:p.Met246Ile

Select item 146571650211.

rs1465716502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50085445 (GRCh38)
12:50479228 (GRCh37)
Canonical SPDI:: NC_000012.12:50085444:G:A
Gene:: SMARCD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50085445G>A, NC_000012.11:g.50479228G>A, NM_003076.5:c.76G>A, NM_003076.4:c.76G>A, XM_005269107.5:c.76G>A, XM_005269107.4:c.76G>A, XM_005269107.3:c.76G>A, XM_005269107.2:c.448G>A, XM_005269107.1:c.448G>A, NM_139071.3:c.76G>A, NM_139071.2:c.76G>A, XR_944683.3:n.104G>A, XR_944683.2:n.210G>A, XR_944683.1:n.246G>A, XR_944684.3:n.104G>A, XR_944684.2:n.210G>A, XR_944684.1:n.246G>A, XM_011538695.3:c.76G>A, XM_011538695.2:c.76G>A, XM_011538695.1:c.76G>A, XM_047429450.1:c.76G>A, XR_007063118.1:n.104G>A, XR_007063120.1:n.104G>A, XR_007063119.1:n.104G>A, XR_007063121.1:n.104G>A, NP_003067.3:p.Ala26Thr, XP_005269164.2:p.Ala26Thr, NP_620710.2:p.Ala26Thr, XP_011536997.1:p.Ala26Thr, XP_047285406.1:p.Ala26Thr

Select item 146412296012.

rs1464122960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:50094485 (GRCh38)
12:50488268 (GRCh37)
Canonical SPDI:: NC_000012.12:50094484:T:C
Gene:: SMARCD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.50094485T>C, NC_000012.11:g.50488268T>C, NM_003076.5:c.1182T>C, NM_003076.4:c.1182T>C, XM_005269107.5:c.1059T>C, XM_005269107.4:c.1059T>C, XM_005269107.3:c.1059T>C, XM_005269107.2:c.1431T>C, XM_005269107.1:c.1431T>C, NM_139071.3:c.1182T>C, NM_139071.2:c.1182T>C, XR_944683.3:n.1210T>C, XR_944683.2:n.1316T>C, XR_944683.1:n.1352T>C, XR_944684.3:n.1210T>C, XR_944684.2:n.1316T>C, XR_944684.1:n.1352T>C, XM_047429450.1:c.1059T>C, XR_007063118.1:n.1087T>C, XR_007063120.1:n.1210T>C, XR_007063119.1:n.1087T>C, XR_007063121.1:n.1087T>C

Select item 146222510713.

rs1462225107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:50086305 (GRCh38)
12:50480088 (GRCh37)
Canonical SPDI:: NC_000012.12:50086304:A:G
Gene:: SMARCD1 (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 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50086305A>G, NC_000012.11:g.50480088A>G, NM_003076.5:c.322A>G, NM_003076.4:c.322A>G, XM_005269107.5:c.322A>G, XM_005269107.4:c.322A>G, XM_005269107.3:c.322A>G, XM_005269107.2:c.694A>G, XM_005269107.1:c.694A>G, NM_139071.3:c.322A>G, NM_139071.2:c.322A>G, XR_944683.3:n.350A>G, XR_944683.2:n.456A>G, XR_944683.1:n.492A>G, XR_944684.3:n.350A>G, XR_944684.2:n.456A>G, XR_944684.1:n.492A>G, XM_011538695.3:c.322A>G, XM_011538695.2:c.322A>G, XM_011538695.1:c.322A>G, XM_047429450.1:c.322A>G, XR_007063118.1:n.350A>G, XR_007063120.1:n.350A>G, XR_007063119.1:n.350A>G, XR_007063121.1:n.350A>G, NP_003067.3:p.Ile108Val, XP_005269164.2:p.Ile108Val, NP_620710.2:p.Ile108Val, XP_011536997.1:p.Ile108Val, XP_047285406.1:p.Ile108Val

Select item 145688868314.

rs1456888683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50094561 (GRCh38)
12:50488344 (GRCh37)
Canonical SPDI:: NC_000012.12:50094560:C:T
Gene:: SMARCD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50094561C>T, NC_000012.11:g.50488344C>T, NM_003076.5:c.1258C>T, NM_003076.4:c.1258C>T, XM_005269107.5:c.1135C>T, XM_005269107.4:c.1135C>T, XM_005269107.3:c.1135C>T, XM_005269107.2:c.1507C>T, XM_005269107.1:c.1507C>T, NM_139071.3:c.1258C>T, NM_139071.2:c.1258C>T, XR_944683.3:n.1286C>T, XR_944683.2:n.1392C>T, XR_944683.1:n.1428C>T, XR_944684.3:n.1286C>T, XR_944684.2:n.1392C>T, XR_944684.1:n.1428C>T, XM_047429450.1:c.1135C>T, XR_007063118.1:n.1163C>T, XR_007063120.1:n.1286C>T, XR_007063119.1:n.1163C>T, XR_007063121.1:n.1163C>T

Select item 145388596815.

rs1453885968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:50086846 (GRCh38)
12:50480629 (GRCh37)
Canonical SPDI:: NC_000012.12:50086845:G:C
Gene:: SMARCD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50086846G>C, NC_000012.11:g.50480629G>C, NM_003076.5:c.499G>C, NM_003076.4:c.499G>C, XM_005269107.5:c.499G>C, XM_005269107.4:c.499G>C, XM_005269107.3:c.499G>C, XM_005269107.2:c.871G>C, XM_005269107.1:c.871G>C, NM_139071.3:c.499G>C, NM_139071.2:c.499G>C, XR_944683.3:n.527G>C, XR_944683.2:n.633G>C, XR_944683.1:n.669G>C, XR_944684.3:n.527G>C, XR_944684.2:n.633G>C, XR_944684.1:n.669G>C, XM_011538695.3:c.499G>C, XM_011538695.2:c.499G>C, XM_011538695.1:c.499G>C, XM_047429450.1:c.499G>C, XR_007063118.1:n.527G>C, XR_007063120.1:n.527G>C, XR_007063119.1:n.527G>C, XR_007063121.1:n.527G>C, NP_003067.3:p.Asp167His, XP_005269164.2:p.Asp167His, NP_620710.2:p.Asp167His, XP_011536997.1:p.Asp167His, XP_047285406.1:p.Asp167His

Select item 145350384916.

rs1453503849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:50086205 (GRCh38)
12:50479988 (GRCh37)
Canonical SPDI:: NC_000012.12:50086204:T:A
Gene:: SMARCD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50086205T>A, NC_000012.11:g.50479988T>A, NM_003076.5:c.222T>A, NM_003076.4:c.222T>A, XM_005269107.5:c.222T>A, XM_005269107.4:c.222T>A, XM_005269107.3:c.222T>A, XM_005269107.2:c.594T>A, XM_005269107.1:c.594T>A, NM_139071.3:c.222T>A, NM_139071.2:c.222T>A, XR_944683.3:n.250T>A, XR_944683.2:n.356T>A, XR_944683.1:n.392T>A, XR_944684.3:n.250T>A, XR_944684.2:n.356T>A, XR_944684.1:n.392T>A, XM_011538695.3:c.222T>A, XM_011538695.2:c.222T>A, XM_011538695.1:c.222T>A, XM_047429450.1:c.222T>A, XR_007063118.1:n.250T>A, XR_007063120.1:n.250T>A, XR_007063119.1:n.250T>A, XR_007063121.1:n.250T>A

Select item 145180958817.

rs1451809588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50085384 (GRCh38)
12:50479167 (GRCh37)
Canonical SPDI:: NC_000012.12:50085383:G:A
Gene:: SMARCD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_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_000012.12:g.50085384G>A, NC_000012.11:g.50479167G>A, NM_003076.5:c.15G>A, NM_003076.4:c.15G>A, XM_005269107.5:c.15G>A, XM_005269107.4:c.15G>A, XM_005269107.3:c.15G>A, XM_005269107.2:c.387G>A, XM_005269107.1:c.387G>A, NM_139071.3:c.15G>A, NM_139071.2:c.15G>A, XR_944683.3:n.43G>A, XR_944683.2:n.149G>A, XR_944683.1:n.185G>A, XR_944684.3:n.43G>A, XR_944684.2:n.149G>A, XR_944684.1:n.185G>A, XM_011538695.3:c.15G>A, XM_011538695.2:c.15G>A, XM_011538695.1:c.15G>A, XM_047429450.1:c.15G>A, XR_007063118.1:n.43G>A, XR_007063120.1:n.43G>A, XR_007063119.1:n.43G>A, XR_007063121.1:n.43G>A

Select item 145131672618.

rs1451316726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50096909 (GRCh38)
12:50490692 (GRCh37)
Canonical SPDI:: NC_000012.12:50096908:C:T
Gene:: SMARCD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000012.12:g.50096909C>T, NC_000012.11:g.50490692C>T, NM_003076.5:c.1329C>T, NM_003076.4:c.1329C>T, XM_005269107.5:c.1206C>T, XM_005269107.4:c.1206C>T, XM_005269107.3:c.1206C>T, XM_005269107.2:c.1578C>T, XM_005269107.1:c.1578C>T, XR_944683.3:n.1357C>T, XR_944683.2:n.1463C>T, XR_944683.1:n.1499C>T, XR_944684.3:n.1357C>T, XR_944684.2:n.1463C>T, XR_944684.1:n.1499C>T, XR_007063118.1:n.1234C>T, XR_007063119.1:n.1234C>T

Select item 145103025819.

rs1451030258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:50090344 (GRCh38)
12:50484127 (GRCh37)
Canonical SPDI:: NC_000012.12:50090343:A:G
Gene:: SMARCD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_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)
HGVS:: NC_000012.12:g.50090344A>G, NC_000012.11:g.50484127A>G, NM_003076.5:c.977A>G, NM_003076.4:c.977A>G, XM_005269107.5:c.854A>G, XM_005269107.4:c.854A>G, XM_005269107.3:c.854A>G, XM_005269107.2:c.1226A>G, XM_005269107.1:c.1226A>G, NM_139071.3:c.977A>G, NM_139071.2:c.977A>G, XR_944683.3:n.1005A>G, XR_944683.2:n.1111A>G, XR_944683.1:n.1147A>G, XR_944684.3:n.1005A>G, XR_944684.2:n.1111A>G, XR_944684.1:n.1147A>G, XM_047429450.1:c.854A>G, XR_007063118.1:n.882A>G, XR_007063120.1:n.1005A>G, XR_007063119.1:n.882A>G, XR_007063121.1:n.882A>G, NP_003067.3:p.His326Arg, XP_005269164.2:p.His285Arg, NP_620710.2:p.His326Arg, XP_047285406.1:p.His285Arg

Select item 145007641920.

rs1450076419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50098990 (GRCh38)
12:50492773 (GRCh37)
Canonical SPDI:: NC_000012.12:50098989:G:A
Gene:: SMARCD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.50098990G>A, NC_000012.11:g.50492773G>A, NG_032168.1:g.172G>A, NM_003076.5:c.1538G>A, NM_003076.4:c.1538G>A, XM_005269107.5:c.1415G>A, XM_005269107.4:c.1415G>A, XM_005269107.3:c.1415G>A, XM_005269107.2:c.1787G>A, XM_005269107.1:c.1787G>A, NM_139071.3:c.1415G>A, NM_139071.2:c.1415G>A, XR_944683.3:n.1566G>A, XR_944683.2:n.1672G>A, XR_944683.1:n.1708G>A, XR_944684.3:n.1566G>A, XR_944684.2:n.1672G>A, XR_944684.1:n.1708G>A, XM_047429450.1:c.1292G>A, XR_007063118.1:n.1443G>A, XR_007063120.1:n.1443G>A, XR_007063119.1:n.1443G>A, XR_007063121.1:n.1320G>A, NP_003067.3:p.Arg513Gln, XP_005269164.2:p.Arg472Gln, NP_620710.2:p.Arg472Gln, XP_047285406.1:p.Arg431Gln

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Clinical Significance

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Custom range

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Items: 1 to 20 of 318

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