SNP Links for Protein (Select 565671780) - SNP

Links from Protein

Items: 1 to 20 of 57

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Select item 14793768791.

rs1479376879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:75530166 (GRCh38)
13:76104302 (GRCh37)
Canonical SPDI:: NC_000013.11:75530165:T:C
Gene:: COMMD6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.75530166T>C, NC_000013.10:g.76104302T>C, NM_203497.4:c.155A>G, NM_203497.3:c.155A>G, NM_203497.2:c.155A>G, NM_203495.4:c.155A>G, NM_203495.3:c.155A>G, NM_203495.2:c.155A>G, NM_001287392.2:c.74A>G, NM_001287392.1:c.74A>G, NM_001287393.2:c.74A>G, NM_001287393.1:c.74A>G, NM_001287394.2:c.74A>G, NM_001287394.1:c.74A>G, NP_987093.1:p.His52Arg, NP_987091.1:p.His52Arg, NP_001274321.1:p.His25Arg, NP_001274322.1:p.His25Arg, NP_001274323.1:p.His25Arg

Select item 14501548252.

rs1450154825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:75530229 (GRCh38)
13:76104365 (GRCh37)
Canonical SPDI:: NC_000013.11:75530228:C:T
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.75530229C>T, NC_000013.10:g.76104365C>T, NM_203497.4:c.92G>A, NM_203497.3:c.92G>A, NM_203497.2:c.92G>A, NM_203495.4:c.92G>A, NM_203495.3:c.92G>A, NM_203495.2:c.92G>A, NM_001287392.2:c.11G>A, NM_001287392.1:c.11G>A, NM_001287393.2:c.11G>A, NM_001287393.1:c.11G>A, NM_001287394.2:c.11G>A, NM_001287394.1:c.11G>A, NP_987093.1:p.Ser31Asn, NP_987091.1:p.Ser31Asn, NP_001274321.1:p.Ser4Asn, NP_001274322.1:p.Ser4Asn, NP_001274323.1:p.Ser4Asn

Select item 14336744383.

rs1433674438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:75530184 (GRCh38)
13:76104320 (GRCh37)
Canonical SPDI:: NC_000013.11:75530183:A:G
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.75530184A>G, NC_000013.10:g.76104320A>G, NM_203497.4:c.137T>C, NM_203497.3:c.137T>C, NM_203497.2:c.137T>C, NM_203495.4:c.137T>C, NM_203495.3:c.137T>C, NM_203495.2:c.137T>C, NM_001287392.2:c.56T>C, NM_001287392.1:c.56T>C, NM_001287393.2:c.56T>C, NM_001287393.1:c.56T>C, NM_001287394.2:c.56T>C, NM_001287394.1:c.56T>C, NP_987093.1:p.Met46Thr, NP_987091.1:p.Met46Thr, NP_001274321.1:p.Met19Thr, NP_001274322.1:p.Met19Thr, NP_001274323.1:p.Met19Thr

Select item 14036075574.

rs1403607557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:75526598 (GRCh38)
13:76100734 (GRCh37)
Canonical SPDI:: NC_000013.11:75526597:T:G
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.75526598T>G, NC_000013.10:g.76100734T>G, NM_203497.4:c.288A>C, NM_203497.3:c.288A>C, NM_203497.2:c.288A>C, NM_203495.4:c.249A>C, NM_203495.3:c.249A>C, NM_203495.2:c.249A>C, NM_001287392.2:c.168A>C, NM_001287392.1:c.168A>C, NM_001287393.2:c.168A>C, NM_001287393.1:c.168A>C, NM_001287394.2:c.168A>C, NM_001287394.1:c.168A>C, NP_987093.1:p.Glu96Asp, NP_987091.1:p.Glu83Asp, NP_001274321.1:p.Glu56Asp, NP_001274322.1:p.Glu56Asp, NP_001274323.1:p.Glu56Asp

Select item 13676356785.

rs1367635678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:75526609 (GRCh38)
13:76100745 (GRCh37)
Canonical SPDI:: NC_000013.11:75526608:C:T
Gene:: COMMD6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.75526609C>T, NC_000013.10:g.76100745C>T, NM_203497.4:c.277G>A, NM_203497.3:c.277G>A, NM_203497.2:c.277G>A, NM_203495.4:c.238G>A, NM_203495.3:c.238G>A, NM_203495.2:c.238G>A, NM_001287392.2:c.157G>A, NM_001287392.1:c.157G>A, NM_001287393.2:c.157G>A, NM_001287393.1:c.157G>A, NM_001287394.2:c.157G>A, NM_001287394.1:c.157G>A, NP_987093.1:p.Ala93Thr, NP_987091.1:p.Ala80Thr, NP_001274321.1:p.Ala53Thr, NP_001274322.1:p.Ala53Thr, NP_001274323.1:p.Ala53Thr

Select item 13612189366.

rs1361218936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:75526591 (GRCh38)
13:76100727 (GRCh37)
Canonical SPDI:: NC_000013.11:75526590:A:G
Gene:: COMMD6 (Varview)
Functional Consequence:: stop_lost,terminator_codon_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_000013.11:g.75526591A>G, NC_000013.10:g.76100727A>G, NM_203497.4:c.295T>C, NM_203497.3:c.295T>C, NM_203497.2:c.295T>C, NM_203495.4:c.256T>C, NM_203495.3:c.256T>C, NM_203495.2:c.256T>C, NM_001287392.2:c.175T>C, NM_001287392.1:c.175T>C, NM_001287393.2:c.175T>C, NM_001287393.1:c.175T>C, NM_001287394.2:c.175T>C, NM_001287394.1:c.175T>C, NP_987093.1:p.Ter99Arg, NP_987091.1:p.Ter86Arg, NP_001274321.1:p.Ter59Arg, NP_001274322.1:p.Ter59Arg, NP_001274323.1:p.Ter59Arg

Select item 13342484107.

rs1334248410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:75530231 (GRCh38)
13:76104367 (GRCh37)
Canonical SPDI:: NC_000013.11:75530230:C:T
Gene:: COMMD6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000013.11:g.75530231C>T, NC_000013.10:g.76104367C>T, NM_203497.4:c.90G>A, NM_203497.3:c.90G>A, NM_203497.2:c.90G>A, NM_203495.4:c.90G>A, NM_203495.3:c.90G>A, NM_203495.2:c.90G>A, NM_001287392.2:c.9G>A, NM_001287392.1:c.9G>A, NM_001287393.2:c.9G>A, NM_001287393.1:c.9G>A, NM_001287394.2:c.9G>A, NM_001287394.1:c.9G>A

Select item 13240555708.

rs1324055570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:75526605 (GRCh38)
13:76100741 (GRCh37)
Canonical SPDI:: NC_000013.11:75526604:A:C
Gene:: COMMD6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.75526605A>C, NC_000013.10:g.76100741A>C, NM_203497.4:c.281T>G, NM_203497.3:c.281T>G, NM_203497.2:c.281T>G, NM_203495.4:c.242T>G, NM_203495.3:c.242T>G, NM_203495.2:c.242T>G, NM_001287392.2:c.161T>G, NM_001287392.1:c.161T>G, NM_001287393.2:c.161T>G, NM_001287393.1:c.161T>G, NM_001287394.2:c.161T>G, NM_001287394.1:c.161T>G, NP_987093.1:p.Val94Gly, NP_987091.1:p.Val81Gly, NP_001274321.1:p.Val54Gly, NP_001274322.1:p.Val54Gly, NP_001274323.1:p.Val54Gly

Select item 13086741199.

rs1308674119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:75530125 (GRCh38)
13:76104261 (GRCh37)
Canonical SPDI:: NC_000013.11:75530124:G:C
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.75530125G>C, NC_000013.10:g.76104261G>C, NM_203497.4:c.196C>G, NM_203497.3:c.196C>G, NM_203497.2:c.196C>G, NM_203495.4:c.196C>G, NM_203495.3:c.196C>G, NM_203495.2:c.196C>G, NM_001287392.2:c.115C>G, NM_001287392.1:c.115C>G, NM_001287393.2:c.115C>G, NM_001287393.1:c.115C>G, NM_001287394.2:c.115C>G, NM_001287394.1:c.115C>G, NP_987093.1:p.Pro66Ala, NP_987091.1:p.Pro66Ala, NP_001274321.1:p.Pro39Ala, NP_001274322.1:p.Pro39Ala, NP_001274323.1:p.Pro39Ala

Select item 129499818410.

rs1294998184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:75526618 (GRCh38)
13:76100754 (GRCh37)
Canonical SPDI:: NC_000013.11:75526617:C:G
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.75526618C>G, NC_000013.10:g.76100754C>G, NM_203497.4:c.268G>C, NM_203497.3:c.268G>C, NM_203497.2:c.268G>C, NM_203495.4:c.229G>C, NM_203495.3:c.229G>C, NM_203495.2:c.229G>C, NM_001287392.2:c.148G>C, NM_001287392.1:c.148G>C, NM_001287393.2:c.148G>C, NM_001287393.1:c.148G>C, NM_001287394.2:c.148G>C, NM_001287394.1:c.148G>C, NP_987093.1:p.Glu90Gln, NP_987091.1:p.Glu77Gln, NP_001274321.1:p.Glu50Gln, NP_001274322.1:p.Glu50Gln, NP_001274323.1:p.Glu50Gln

Select item 127147317911.

rs1271473179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:75530194 (GRCh38)
13:76104330 (GRCh37)
Canonical SPDI:: NC_000013.11:75530193:C:T
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.75530194C>T, NC_000013.10:g.76104330C>T, NM_203497.4:c.127G>A, NM_203497.3:c.127G>A, NM_203497.2:c.127G>A, NM_203495.4:c.127G>A, NM_203495.3:c.127G>A, NM_203495.2:c.127G>A, NM_001287392.2:c.46G>A, NM_001287392.1:c.46G>A, NM_001287393.2:c.46G>A, NM_001287393.1:c.46G>A, NM_001287394.2:c.46G>A, NM_001287394.1:c.46G>A, NP_987093.1:p.Val43Ile, NP_987091.1:p.Val43Ile, NP_001274321.1:p.Val16Ile, NP_001274322.1:p.Val16Ile, NP_001274323.1:p.Val16Ile

Select item 127087235212.

rs1270872352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:75526632 (GRCh38)
13:76100768 (GRCh37)
Canonical SPDI:: NC_000013.11:75526631:T:C
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.75526632T>C, NC_000013.10:g.76100768T>C, NM_203497.4:c.254A>G, NM_203497.3:c.254A>G, NM_203497.2:c.254A>G, NM_203495.4:c.215A>G, NM_203495.3:c.215A>G, NM_203495.2:c.215A>G, NM_001287392.2:c.134A>G, NM_001287392.1:c.134A>G, NM_001287393.2:c.134A>G, NM_001287393.1:c.134A>G, NM_001287394.2:c.134A>G, NM_001287394.1:c.134A>G, NP_987093.1:p.Tyr85Cys, NP_987091.1:p.Tyr72Cys, NP_001274321.1:p.Tyr45Cys, NP_001274322.1:p.Tyr45Cys, NP_001274323.1:p.Tyr45Cys

Select item 121698461813.

rs1216984618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:75530117 (GRCh38)
13:76104253 (GRCh37)
Canonical SPDI:: NC_000013.11:75530116:A:G
Gene:: COMMD6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.75530117A>G, NC_000013.10:g.76104253A>G, NM_203497.4:c.204T>C, NM_203497.3:c.204T>C, NM_203497.2:c.204T>C, NM_203495.4:c.204T>C, NM_203495.3:c.204T>C, NM_203495.2:c.204T>C, NM_001287392.2:c.123T>C, NM_001287392.1:c.123T>C, NM_001287393.2:c.123T>C, NM_001287393.1:c.123T>C, NM_001287394.2:c.123T>C, NM_001287394.1:c.123T>C

Select item 121471887414.

rs1214718874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:75530219 (GRCh38)
13:76104355 (GRCh37)
Canonical SPDI:: NC_000013.11:75530218:A:C
Gene:: COMMD6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.75530219A>C, NC_000013.10:g.76104355A>C, NM_203497.4:c.102T>G, NM_203497.3:c.102T>G, NM_203497.2:c.102T>G, NM_203495.4:c.102T>G, NM_203495.3:c.102T>G, NM_203495.2:c.102T>G, NM_001287392.2:c.21T>G, NM_001287392.1:c.21T>G, NM_001287393.2:c.21T>G, NM_001287393.1:c.21T>G, NM_001287394.2:c.21T>G, NM_001287394.1:c.21T>G

Select item 116945810315.

rs1169458103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:75530171 (GRCh38)
13:76104307 (GRCh37)
Canonical SPDI:: NC_000013.11:75530170:T:C
Gene:: COMMD6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.75530171T>C, NC_000013.10:g.76104307T>C, NM_203497.4:c.150A>G, NM_203497.3:c.150A>G, NM_203497.2:c.150A>G, NM_203495.4:c.150A>G, NM_203495.3:c.150A>G, NM_203495.2:c.150A>G, NM_001287392.2:c.69A>G, NM_001287392.1:c.69A>G, NM_001287393.2:c.69A>G, NM_001287393.1:c.69A>G, NM_001287394.2:c.69A>G, NM_001287394.1:c.69A>G

Select item 102231143416.

rs1022311434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:75526596 (GRCh38)
13:76100732 (GRCh37)
Canonical SPDI:: NC_000013.11:75526595:G:A
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.75526596G>A, NC_000013.10:g.76100732G>A, NM_203497.4:c.290C>T, NM_203497.3:c.290C>T, NM_203497.2:c.290C>T, NM_203495.4:c.251C>T, NM_203495.3:c.251C>T, NM_203495.2:c.251C>T, NM_001287392.2:c.170C>T, NM_001287392.1:c.170C>T, NM_001287393.2:c.170C>T, NM_001287393.1:c.170C>T, NM_001287394.2:c.170C>T, NM_001287394.1:c.170C>T, NP_987093.1:p.Thr97Met, NP_987091.1:p.Thr84Met, NP_001274321.1:p.Thr57Met, NP_001274322.1:p.Thr57Met, NP_001274323.1:p.Thr57Met

Select item 101919661217.

rs1019196612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:75530160 (GRCh38)
13:76104296 (GRCh37)
Canonical SPDI:: NC_000013.11:75530159:C:T
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.75530160C>T, NC_000013.10:g.76104296C>T, NM_203497.4:c.161G>A, NM_203497.3:c.161G>A, NM_203497.2:c.161G>A, NM_203495.4:c.161G>A, NM_203495.3:c.161G>A, NM_203495.2:c.161G>A, NM_001287392.2:c.80G>A, NM_001287392.1:c.80G>A, NM_001287393.2:c.80G>A, NM_001287393.1:c.80G>A, NM_001287394.2:c.80G>A, NM_001287394.1:c.80G>A, NP_987093.1:p.Gly54Asp, NP_987091.1:p.Gly54Asp, NP_001274321.1:p.Gly27Asp, NP_001274322.1:p.Gly27Asp, NP_001274323.1:p.Gly27Asp

Select item 99624164018.

rs996241640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:75530134 (GRCh38)
13:76104270 (GRCh37)
Canonical SPDI:: NC_000013.11:75530133:T:C
Gene:: COMMD6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000013.11:g.75530134T>C, NC_000013.10:g.76104270T>C, NM_203497.4:c.187A>G, NM_203497.3:c.187A>G, NM_203497.2:c.187A>G, NM_203495.4:c.187A>G, NM_203495.3:c.187A>G, NM_203495.2:c.187A>G, NM_001287392.2:c.106A>G, NM_001287392.1:c.106A>G, NM_001287393.2:c.106A>G, NM_001287393.1:c.106A>G, NM_001287394.2:c.106A>G, NM_001287394.1:c.106A>G, NP_987093.1:p.Met63Val, NP_987091.1:p.Met63Val, NP_001274321.1:p.Met36Val, NP_001274322.1:p.Met36Val, NP_001274323.1:p.Met36Val

Select item 97571216819.

rs975712168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:75526608 (GRCh38)
13:76100744 (GRCh37)
Canonical SPDI:: NC_000013.11:75526607:G:T
Gene:: COMMD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.75526608G>T, NC_000013.10:g.76100744G>T, NM_203497.4:c.278C>A, NM_203497.3:c.278C>A, NM_203497.2:c.278C>A, NM_203495.4:c.239C>A, NM_203495.3:c.239C>A, NM_203495.2:c.239C>A, NM_001287392.2:c.158C>A, NM_001287392.1:c.158C>A, NM_001287393.2:c.158C>A, NM_001287393.1:c.158C>A, NM_001287394.2:c.158C>A, NM_001287394.1:c.158C>A, NP_987093.1:p.Ala93Glu, NP_987091.1:p.Ala80Glu, NP_001274321.1:p.Ala53Glu, NP_001274322.1:p.Ala53Glu, NP_001274323.1:p.Ala53Glu

Select item 78131748520.

rs781317485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:75530198 (GRCh38)
13:76104334 (GRCh37)
Canonical SPDI:: NC_000013.11:75530197:A:T
Gene:: COMMD6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
HGVS:: NC_000013.11:g.75530198A>T, NC_000013.10:g.76104334A>T, NM_203497.4:c.123T>A, NM_203497.3:c.123T>A, NM_203497.2:c.123T>A, NM_203495.4:c.123T>A, NM_203495.3:c.123T>A, NM_203495.2:c.123T>A, NM_001287392.2:c.42T>A, NM_001287392.1:c.42T>A, NM_001287393.2:c.42T>A, NM_001287393.1:c.42T>A, NM_001287394.2:c.42T>A, NM_001287394.1:c.42T>A

dbSNP

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