SNP Links for Protein (Select 285403096) - SNP

Select item 14884618111.

rs1488461811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:113939938 (GRCh38)
3:113658785 (GRCh37)
Canonical SPDI:: NC_000003.12:113939937:A:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113939938A>G, NC_000003.11:g.113658785A>G, NM_017577.5:c.1744A>G, NM_017577.4:c.1744A>G, XM_005247547.3:c.1567A>G, XM_005247547.2:c.1567A>G, XM_005247547.1:c.1567A>G, XM_011512930.2:c.1714A>G, XM_011512930.1:c.1714A>G, XM_011512931.2:c.1129A>G, XM_011512931.1:c.1129A>G, NM_001172105.2:c.1129A>G, NM_001172105.1:c.1129A>G, XM_017006649.2:c.931A>G, XM_017006649.1:c.931A>G, NP_060047.3:p.Ile582Val, XP_005247604.1:p.Ile523Val, XP_011511232.1:p.Ile572Val, XP_011511233.1:p.Ile377Val, NP_001165576.1:p.Ile377Val, XP_016862138.1:p.Ile311Val

Select item 14829393862.

rs1482939386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:113909054 (GRCh38)
3:113627901 (GRCh37)
Canonical SPDI:: NC_000003.12:113909053:C:G,NC_000003.12:113909053:C:T
Gene:: GRAMD1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113909054C>G, NC_000003.12:g.113909054C>T, NC_000003.11:g.113627901C>G, NC_000003.11:g.113627901C>T, NM_017577.5:c.886C>G, NM_017577.5:c.886C>T, NM_017577.4:c.886C>G, NM_017577.4:c.886C>T, XM_005247547.3:c.886C>G, XM_005247547.3:c.886C>T, XM_005247547.2:c.886C>G, XM_005247547.2:c.886C>T, XM_005247547.1:c.886C>G, XM_005247547.1:c.886C>T, XM_011512930.2:c.856C>G, XM_011512930.2:c.856C>T, XM_011512930.1:c.856C>G, XM_011512930.1:c.856C>T, XM_011512931.2:c.271C>G, XM_011512931.2:c.271C>T, XM_011512931.1:c.271C>G, XM_011512931.1:c.271C>T, NM_001172105.2:c.271C>G, NM_001172105.2:c.271C>T, NM_001172105.1:c.271C>G, NM_001172105.1:c.271C>T, XM_017006649.2:c.-16C>G, XM_017006649.2:c.-16C>T, XM_017006649.1:c.-16C>G, XM_017006649.1:c.-16C>T, NP_060047.3:p.Leu296Val, XP_005247604.1:p.Leu296Val, XP_011511232.1:p.Leu286Val, XP_011511233.1:p.Leu91Val, NP_001165576.1:p.Leu91Val

Select item 14826307133.

rs1482630713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:113904246 (GRCh38)
3:113623093 (GRCh37)
Canonical SPDI:: NC_000003.12:113904245:T:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.113904246T>G, NC_000003.11:g.113623093T>G, NM_017577.5:c.763T>G, NM_017577.4:c.763T>G, XM_005247547.3:c.763T>G, XM_005247547.2:c.763T>G, XM_005247547.1:c.763T>G, XM_011512930.2:c.733T>G, XM_011512930.1:c.733T>G, XM_011512931.2:c.148T>G, XM_011512931.1:c.148T>G, NM_001172105.2:c.148T>G, NM_001172105.1:c.148T>G, NP_060047.3:p.Ser255Ala, XP_005247604.1:p.Ser255Ala, XP_011511232.1:p.Ser245Ala, XP_011511233.1:p.Ser50Ala, NP_001165576.1:p.Ser50Ala

Select item 14823265694.

rs1482326569 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:113933568 (GRCh38)
3:113652415 (GRCh37)
Canonical SPDI:: NC_000003.12:113933567:A:C,NC_000003.12:113933567:A:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113933568A>C, NC_000003.12:g.113933568A>G, NC_000003.11:g.113652415A>C, NC_000003.11:g.113652415A>G, NM_017577.5:c.1267A>C, NM_017577.5:c.1267A>G, NM_017577.4:c.1267A>C, NM_017577.4:c.1267A>G, XM_005247547.3:c.1267A>C, XM_005247547.3:c.1267A>G, XM_005247547.2:c.1267A>C, XM_005247547.2:c.1267A>G, XM_005247547.1:c.1267A>C, XM_005247547.1:c.1267A>G, XM_011512930.2:c.1237A>C, XM_011512930.2:c.1237A>G, XM_011512930.1:c.1237A>C, XM_011512930.1:c.1237A>G, XM_011512931.2:c.652A>C, XM_011512931.2:c.652A>G, XM_011512931.1:c.652A>C, XM_011512931.1:c.652A>G, NM_001172105.2:c.652A>C, NM_001172105.2:c.652A>G, NM_001172105.1:c.652A>C, NM_001172105.1:c.652A>G, XM_017006649.2:c.454A>C, XM_017006649.2:c.454A>G, XM_017006649.1:c.454A>C, XM_017006649.1:c.454A>G, NP_060047.3:p.Thr423Pro, NP_060047.3:p.Thr423Ala, XP_005247604.1:p.Thr423Pro, XP_005247604.1:p.Thr423Ala, XP_011511232.1:p.Thr413Pro, XP_011511232.1:p.Thr413Ala, XP_011511233.1:p.Thr218Pro, XP_011511233.1:p.Thr218Ala, NP_001165576.1:p.Thr218Pro, NP_001165576.1:p.Thr218Ala, XP_016862138.1:p.Thr152Pro, XP_016862138.1:p.Thr152Ala

Select item 14745633645.

rs1474563364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:113945462 (GRCh38)
3:113664309 (GRCh37)
Canonical SPDI:: NC_000003.12:113945461:T:C,NC_000003.12:113945461:T:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.113945462T>C, NC_000003.12:g.113945462T>G, NC_000003.11:g.113664309T>C, NC_000003.11:g.113664309T>G, NM_017577.5:c.1973T>C, NM_017577.5:c.1973T>G, NM_017577.4:c.1973T>C, NM_017577.4:c.1973T>G, XM_005247547.3:c.1796T>C, XM_005247547.3:c.1796T>G, XM_005247547.2:c.1796T>C, XM_005247547.2:c.1796T>G, XM_005247547.1:c.1796T>C, XM_005247547.1:c.1796T>G, XM_011512930.2:c.1943T>C, XM_011512930.2:c.1943T>G, XM_011512930.1:c.1943T>C, XM_011512930.1:c.1943T>G, XM_011512931.2:c.1358T>C, XM_011512931.2:c.1358T>G, XM_011512931.1:c.1358T>C, XM_011512931.1:c.1358T>G, NM_001172105.2:c.1358T>C, NM_001172105.2:c.1358T>G, NM_001172105.1:c.1358T>C, NM_001172105.1:c.1358T>G, XM_017006649.2:c.1160T>C, XM_017006649.2:c.1160T>G, XM_017006649.1:c.1160T>C, XM_017006649.1:c.1160T>G, NP_060047.3:p.Met658Thr, NP_060047.3:p.Met658Arg, XP_005247604.1:p.Met599Thr, XP_005247604.1:p.Met599Arg, XP_011511232.1:p.Met648Thr, XP_011511232.1:p.Met648Arg, XP_011511233.1:p.Met453Thr, XP_011511233.1:p.Met453Arg, NP_001165576.1:p.Met453Thr, NP_001165576.1:p.Met453Arg, XP_016862138.1:p.Met387Thr, XP_016862138.1:p.Met387Arg

Select item 14742585566.

rs1474258556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:113909075 (GRCh38)
3:113627922 (GRCh37)
Canonical SPDI:: NC_000003.12:113909074:T:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113909075T>G, NC_000003.11:g.113627922T>G, NM_017577.5:c.907T>G, NM_017577.4:c.907T>G, XM_005247547.3:c.907T>G, XM_005247547.2:c.907T>G, XM_005247547.1:c.907T>G, XM_011512930.2:c.877T>G, XM_011512930.1:c.877T>G, XM_011512931.2:c.292T>G, XM_011512931.1:c.292T>G, NM_001172105.2:c.292T>G, NM_001172105.1:c.292T>G, XM_017006649.2:c.6T>G, XM_017006649.1:c.6T>G, NP_060047.3:p.Tyr303Asp, XP_005247604.1:p.Tyr303Asp, XP_011511232.1:p.Tyr293Asp, XP_011511233.1:p.Tyr98Asp, NP_001165576.1:p.Tyr98Asp, XP_016862138.1:p.Asn2Lys

Select item 14733891057.

rs1473389105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:113934512 (GRCh38)
3:113653359 (GRCh37)
Canonical SPDI:: NC_000003.12:113934511:T:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113934512T>G, NC_000003.11:g.113653359T>G, NM_017577.5:c.1433T>G, NM_017577.4:c.1433T>G, XM_005247547.3:c.1433T>G, XM_005247547.2:c.1433T>G, XM_005247547.1:c.1433T>G, XM_011512930.2:c.1403T>G, XM_011512930.1:c.1403T>G, XM_011512931.2:c.818T>G, XM_011512931.1:c.818T>G, NM_001172105.2:c.818T>G, NM_001172105.1:c.818T>G, XM_017006649.2:c.620T>G, XM_017006649.1:c.620T>G, NP_060047.3:p.Leu478Trp, XP_005247604.1:p.Leu478Trp, XP_011511232.1:p.Leu468Trp, XP_011511233.1:p.Leu273Trp, NP_001165576.1:p.Leu273Trp, XP_016862138.1:p.Leu207Trp

Select item 14733133038.

rs1473313303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:113939889 (GRCh38)
3:113658736 (GRCh37)
Canonical SPDI:: NC_000003.12:113939888:G:T
Gene:: GRAMD1C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.113939889G>T, NC_000003.11:g.113658736G>T, NM_017577.5:c.1695G>T, NM_017577.4:c.1695G>T, XM_005247547.3:c.1518G>T, XM_005247547.2:c.1518G>T, XM_005247547.1:c.1518G>T, XM_011512930.2:c.1665G>T, XM_011512930.1:c.1665G>T, XM_011512931.2:c.1080G>T, XM_011512931.1:c.1080G>T, NM_001172105.2:c.1080G>T, NM_001172105.1:c.1080G>T, XM_017006649.2:c.882G>T, XM_017006649.1:c.882G>T

Select item 14714045829.

rs1471404582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:113940295 (GRCh38)
3:113659142 (GRCh37)
Canonical SPDI:: NC_000003.12:113940294:G:T
Gene:: GRAMD1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113940295G>T, NC_000003.11:g.113659142G>T, NM_017577.5:c.1858G>T, NM_017577.4:c.1858G>T, XM_005247547.3:c.1681G>T, XM_005247547.2:c.1681G>T, XM_005247547.1:c.1681G>T, XM_011512930.2:c.1828G>T, XM_011512930.1:c.1828G>T, XM_011512931.2:c.1243G>T, XM_011512931.1:c.1243G>T, NM_001172105.2:c.1243G>T, NM_001172105.1:c.1243G>T, XM_017006649.2:c.1045G>T, XM_017006649.1:c.1045G>T, NP_060047.3:p.Ala620Ser, XP_005247604.1:p.Ala561Ser, XP_011511232.1:p.Ala610Ser, XP_011511233.1:p.Ala415Ser, NP_001165576.1:p.Ala415Ser, XP_016862138.1:p.Ala349Ser

Select item 146616246210.

rs1466162462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113939888 (GRCh38)
3:113658735 (GRCh37)
Canonical SPDI:: NC_000003.12:113939887:T:C
Gene:: GRAMD1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113939888T>C, NC_000003.11:g.113658735T>C, NM_017577.5:c.1694T>C, NM_017577.4:c.1694T>C, XM_005247547.3:c.1517T>C, XM_005247547.2:c.1517T>C, XM_005247547.1:c.1517T>C, XM_011512930.2:c.1664T>C, XM_011512930.1:c.1664T>C, XM_011512931.2:c.1079T>C, XM_011512931.1:c.1079T>C, NM_001172105.2:c.1079T>C, NM_001172105.1:c.1079T>C, XM_017006649.2:c.881T>C, XM_017006649.1:c.881T>C, NP_060047.3:p.Val565Ala, XP_005247604.1:p.Val506Ala, XP_011511232.1:p.Val555Ala, XP_011511233.1:p.Val360Ala, NP_001165576.1:p.Val360Ala, XP_016862138.1:p.Val294Ala

Select item 146592929911.

rs1465929299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113915825 (GRCh38)
3:113634672 (GRCh37)
Canonical SPDI:: NC_000003.12:113915824:T:C
Gene:: GRAMD1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.113915825T>C, NC_000003.11:g.113634672T>C, NM_017577.5:c.1077T>C, NM_017577.4:c.1077T>C, XM_005247547.3:c.1077T>C, XM_005247547.2:c.1077T>C, XM_005247547.1:c.1077T>C, XM_011512930.2:c.1047T>C, XM_011512930.1:c.1047T>C, XM_011512931.2:c.462T>C, XM_011512931.1:c.462T>C, NM_001172105.2:c.462T>C, NM_001172105.1:c.462T>C, XM_017006649.2:c.264T>C, XM_017006649.1:c.264T>C

Select item 146443978112.

rs1464439781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:113938089 (GRCh38)
3:113656936 (GRCh37)
Canonical SPDI:: NC_000003.12:113938088:A:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000003.12:g.113938089A>G, NC_000003.11:g.113656936A>G, NM_017577.5:c.1637A>G, NM_017577.4:c.1637A>G, XM_005247547.3:c.1460A>G, XM_005247547.2:c.1460A>G, XM_005247547.1:c.1460A>G, XM_011512930.2:c.1607A>G, XM_011512930.1:c.1607A>G, XM_011512931.2:c.1022A>G, XM_011512931.1:c.1022A>G, NM_001172105.2:c.1022A>G, NM_001172105.1:c.1022A>G, XM_017006649.2:c.824A>G, XM_017006649.1:c.824A>G, NP_060047.3:p.Lys546Arg, XP_005247604.1:p.Lys487Arg, XP_011511232.1:p.Lys536Arg, XP_011511233.1:p.Lys341Arg, NP_001165576.1:p.Lys341Arg, XP_016862138.1:p.Lys275Arg

Select item 146389754213.

rs1463897542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:113930757 (GRCh38)
3:113649604 (GRCh37)
Canonical SPDI:: NC_000003.12:113930756:G:T
Gene:: GRAMD1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.113930757G>T, NC_000003.11:g.113649604G>T, NM_017577.5:c.1134G>T, NM_017577.4:c.1134G>T, XM_005247547.3:c.1134G>T, XM_005247547.2:c.1134G>T, XM_005247547.1:c.1134G>T, XM_011512930.2:c.1104G>T, XM_011512930.1:c.1104G>T, XM_011512931.2:c.519G>T, XM_011512931.1:c.519G>T, NM_001172105.2:c.519G>T, NM_001172105.1:c.519G>T, XM_017006649.2:c.321G>T, XM_017006649.1:c.321G>T, NP_060047.3:p.Gln378His, XP_005247604.1:p.Gln378His, XP_011511232.1:p.Gln368His, XP_011511233.1:p.Gln173His, NP_001165576.1:p.Gln173His, XP_016862138.1:p.Gln107His

Select item 146331077414.

rs1463310774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:113908972 (GRCh38)
3:113627819 (GRCh37)
Canonical SPDI:: NC_000003.12:113908971:G:A
Gene:: GRAMD1C (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.113908972G>A, NC_000003.11:g.113627819G>A, NM_017577.5:c.804G>A, NM_017577.4:c.804G>A, XM_005247547.3:c.804G>A, XM_005247547.2:c.804G>A, XM_005247547.1:c.804G>A, XM_011512930.2:c.774G>A, XM_011512930.1:c.774G>A, XM_011512931.2:c.189G>A, XM_011512931.1:c.189G>A, NM_001172105.2:c.189G>A, NM_001172105.1:c.189G>A, XM_017006649.2:c.-98G>A, XM_017006649.1:c.-98G>A

Select item 146121960315.

rs1461219603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:113936361 (GRCh38)
3:113655208 (GRCh37)
Canonical SPDI:: NC_000003.12:113936360:C:T
Gene:: GRAMD1C (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113936361C>T, NC_000003.11:g.113655208C>T, NM_017577.5:c.1552C>T, NM_017577.4:c.1552C>T, XM_011512930.2:c.1522C>T, XM_011512930.1:c.1522C>T, XM_011512931.2:c.937C>T, XM_011512931.1:c.937C>T, NM_001172105.2:c.937C>T, NM_001172105.1:c.937C>T, XM_017006649.2:c.739C>T, XM_017006649.1:c.739C>T, NP_060047.3:p.Arg518Ter, XP_011511232.1:p.Arg508Ter, XP_011511233.1:p.Arg313Ter, NP_001165576.1:p.Arg313Ter, XP_016862138.1:p.Arg247Ter

Select item 146047822516.

rs1460478225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:113936401 (GRCh38)
3:113655248 (GRCh37)
Canonical SPDI:: NC_000003.12:113936400:C:T
Gene:: GRAMD1C (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.113936401C>T, NC_000003.11:g.113655248C>T, NM_017577.5:c.1592C>T, NM_017577.4:c.1592C>T, XM_011512930.2:c.1562C>T, XM_011512930.1:c.1562C>T, XM_011512931.2:c.977C>T, XM_011512931.1:c.977C>T, NM_001172105.2:c.977C>T, NM_001172105.1:c.977C>T, XM_017006649.2:c.779C>T, XM_017006649.1:c.779C>T, NP_060047.3:p.Ser531Phe, XP_011511232.1:p.Ser521Phe, XP_011511233.1:p.Ser326Phe, NP_001165576.1:p.Ser326Phe, XP_016862138.1:p.Ser260Phe

Select item 145989511817.

rs1459895118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:113939940 (GRCh38)
3:113658787 (GRCh37)
Canonical SPDI:: NC_000003.12:113939939:A:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113939940A>G, NC_000003.11:g.113658787A>G, NM_017577.5:c.1746A>G, NM_017577.4:c.1746A>G, XM_005247547.3:c.1569A>G, XM_005247547.2:c.1569A>G, XM_005247547.1:c.1569A>G, XM_011512930.2:c.1716A>G, XM_011512930.1:c.1716A>G, XM_011512931.2:c.1131A>G, XM_011512931.1:c.1131A>G, NM_001172105.2:c.1131A>G, NM_001172105.1:c.1131A>G, XM_017006649.2:c.933A>G, XM_017006649.1:c.933A>G, NP_060047.3:p.Ile582Met, XP_005247604.1:p.Ile523Met, XP_011511232.1:p.Ile572Met, XP_011511233.1:p.Ile377Met, NP_001165576.1:p.Ile377Met, XP_016862138.1:p.Ile311Met

Select item 145763976118.

rs1457639761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:113936413 (GRCh38)
3:113655260 (GRCh37)
Canonical SPDI:: NC_000003.12:113936412:T:C,NC_000003.12:113936412:T:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113936413T>C, NC_000003.12:g.113936413T>G, NC_000003.11:g.113655260T>C, NC_000003.11:g.113655260T>G, NM_017577.5:c.1604T>C, NM_017577.5:c.1604T>G, NM_017577.4:c.1604T>C, NM_017577.4:c.1604T>G, XM_011512930.2:c.1574T>C, XM_011512930.2:c.1574T>G, XM_011512930.1:c.1574T>C, XM_011512930.1:c.1574T>G, XM_011512931.2:c.989T>C, XM_011512931.2:c.989T>G, XM_011512931.1:c.989T>C, XM_011512931.1:c.989T>G, NM_001172105.2:c.989T>C, NM_001172105.2:c.989T>G, NM_001172105.1:c.989T>C, NM_001172105.1:c.989T>G, XM_017006649.2:c.791T>C, XM_017006649.2:c.791T>G, XM_017006649.1:c.791T>C, XM_017006649.1:c.791T>G, NP_060047.3:p.Val535Ala, NP_060047.3:p.Val535Gly, XP_011511232.1:p.Val525Ala, XP_011511232.1:p.Val525Gly, XP_011511233.1:p.Val330Ala, XP_011511233.1:p.Val330Gly, NP_001165576.1:p.Val330Ala, NP_001165576.1:p.Val330Gly, XP_016862138.1:p.Val264Ala, XP_016862138.1:p.Val264Gly

Select item 145083786419.

rs1450837864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:113934471 (GRCh38)
3:113653318 (GRCh37)
Canonical SPDI:: NC_000003.12:113934470:C:T
Gene:: GRAMD1C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113934471C>T, NC_000003.11:g.113653318C>T, NM_017577.5:c.1392C>T, NM_017577.4:c.1392C>T, XM_005247547.3:c.1392C>T, XM_005247547.2:c.1392C>T, XM_005247547.1:c.1392C>T, XM_011512930.2:c.1362C>T, XM_011512930.1:c.1362C>T, XM_011512931.2:c.777C>T, XM_011512931.1:c.777C>T, NM_001172105.2:c.777C>T, NM_001172105.1:c.777C>T, XM_017006649.2:c.579C>T, XM_017006649.1:c.579C>T

Select item 144811622920.

rs1448116229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:113936371 (GRCh38)
3:113655218 (GRCh37)
Canonical SPDI:: NC_000003.12:113936370:A:G
Gene:: GRAMD1C (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000073/3 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113936371A>G, NC_000003.11:g.113655218A>G, NM_017577.5:c.1562A>G, NM_017577.4:c.1562A>G, XM_011512930.2:c.1532A>G, XM_011512930.1:c.1532A>G, XM_011512931.2:c.947A>G, XM_011512931.1:c.947A>G, NM_001172105.2:c.947A>G, NM_001172105.1:c.947A>G, XM_017006649.2:c.749A>G, XM_017006649.1:c.749A>G, NP_060047.3:p.Glu521Gly, XP_011511232.1:p.Glu511Gly, XP_011511233.1:p.Glu316Gly, NP_001165576.1:p.Glu316Gly, XP_016862138.1:p.Glu250Gly

dbSNP

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Result Filters

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Items: 1 to 20 of 415

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