SNP Links for Protein (Select 240255542) - SNP

Links from Protein

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Select item 14895360231.

rs1489536023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237371846 (GRCh38)
2:238280489 (GRCh37)
Canonical SPDI:: NC_000002.12:237371845:C:T
Gene:: COL6A3 (Varview)
Functional Consequence:: 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.237371846C>T, NC_000002.11:g.238280489C>T, NG_008676.1:g.47362G>A, NM_057166.5:c.2350G>A, NM_057166.4:c.2350G>A, NM_057165.5:c.3553G>A, NM_057165.4:c.3553G>A, NM_057164.5:c.2950G>A, NM_057164.4:c.2950G>A, NM_004369.4:c.4171G>A, NM_004369.3:c.4171G>A, NM_057167.4:c.3553G>A, NM_057167.3:c.3553G>A, NP_476507.3:p.Val784Met, NP_476506.3:p.Val1185Met, NP_476505.3:p.Val984Met, NP_004360.2:p.Val1391Met, NP_476508.2:p.Val1185Met

Select item 14890344882.

rs1489034488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237381114 (GRCh38)
2:238289757 (GRCh37)
Canonical SPDI:: NC_000002.12:237381113:G:A
Gene:: COL6A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237381114G>A, NC_000002.11:g.238289757G>A, NG_008676.1:g.38094C>T, NM_057166.5:c.477C>T, NM_057166.4:c.477C>T, NM_057165.5:c.1080C>T, NM_057165.4:c.1080C>T, NM_057164.5:c.477C>T, NM_057164.4:c.477C>T, NM_004369.4:c.1698C>T, NM_004369.3:c.1698C>T, NM_057167.4:c.1080C>T, NM_057167.3:c.1080C>T

Select item 14890007133.

rs1489000713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237376876 (GRCh38)
2:238285519 (GRCh37)
Canonical SPDI:: NC_000002.12:237376875:G:A
Gene:: COL6A3 (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)
HGVS:: NC_000002.12:g.237376876G>A, NC_000002.11:g.238285519G>A, NG_008676.1:g.42332C>T, NM_057166.5:c.1145C>T, NM_057166.4:c.1145C>T, NM_057165.5:c.2348C>T, NM_057165.4:c.2348C>T, NM_057164.5:c.1745C>T, NM_057164.4:c.1745C>T, NM_004369.4:c.2966C>T, NM_004369.3:c.2966C>T, NM_057167.4:c.2348C>T, NM_057167.3:c.2348C>T, NP_476507.3:p.Ser382Phe, NP_476506.3:p.Ser783Phe, NP_476505.3:p.Ser582Phe, NP_004360.2:p.Ser989Phe, NP_476508.2:p.Ser783Phe

Select item 14888476884.

rs1488847688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:237381179 (GRCh38)
2:238289822 (GRCh37)
Canonical SPDI:: NC_000002.12:237381178:C:A
Gene:: COL6A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.237381179C>A, NC_000002.11:g.238289822C>A, NG_008676.1:g.38029G>T, NM_057166.5:c.412G>T, NM_057166.4:c.412G>T, NM_057165.5:c.1015G>T, NM_057165.4:c.1015G>T, NM_057164.5:c.412G>T, NM_057164.4:c.412G>T, NM_004369.4:c.1633G>T, NM_004369.3:c.1633G>T, NM_057167.4:c.1015G>T, NM_057167.3:c.1015G>T, NP_476507.3:p.Ala138Ser, NP_476506.3:p.Ala339Ser, NP_476505.3:p.Ala138Ser, NP_004360.2:p.Ala545Ser, NP_476508.2:p.Ala339Ser

Select item 14868960895.

rs1486896089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237396761 (GRCh38)
2:238305404 (GRCh37)
Canonical SPDI:: NC_000002.12:237396760:G:A
Gene:: COL6A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237396761G>A, NC_000002.11:g.238305404G>A, NG_008676.1:g.22447C>T, NM_057166.5:c.57C>T, NM_057166.4:c.57C>T, NM_057165.5:c.57C>T, NM_057165.4:c.57C>T, NM_057164.5:c.57C>T, NM_057164.4:c.57C>T, NM_004369.4:c.57C>T, NM_004369.3:c.57C>T, NM_057167.4:c.57C>T, NM_057167.3:c.57C>T

Select item 14861284196.

rs1486128419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:237377306 (GRCh38)
2:238285949 (GRCh37)
Canonical SPDI:: NC_000002.12:237377305:C:A,NC_000002.12:237377305:C:T
Gene:: COL6A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.237377306C>A, NC_000002.12:g.237377306C>T, NC_000002.11:g.238285949C>A, NC_000002.11:g.238285949C>T, NG_008676.1:g.41902G>T, NG_008676.1:g.41902G>A, NM_057166.5:c.715G>T, NM_057166.5:c.715G>A, NM_057166.4:c.715G>T, NM_057166.4:c.715G>A, NM_057165.5:c.1918G>T, NM_057165.5:c.1918G>A, NM_057165.4:c.1918G>T, NM_057165.4:c.1918G>A, NM_057164.5:c.1315G>T, NM_057164.5:c.1315G>A, NM_057164.4:c.1315G>T, NM_057164.4:c.1315G>A, NM_004369.4:c.2536G>T, NM_004369.4:c.2536G>A, NM_004369.3:c.2536G>T, NM_004369.3:c.2536G>A, NM_057167.4:c.1918G>T, NM_057167.4:c.1918G>A, NM_057167.3:c.1918G>T, NM_057167.3:c.1918G>A, NP_476507.3:p.Ala239Ser, NP_476507.3:p.Ala239Thr, NP_476506.3:p.Ala640Ser, NP_476506.3:p.Ala640Thr, NP_476505.3:p.Ala439Ser, NP_476505.3:p.Ala439Thr, NP_004360.2:p.Ala846Ser, NP_004360.2:p.Ala846Thr, NP_476508.2:p.Ala640Ser, NP_476508.2:p.Ala640Thr

Select item 14846214167.

rs1484621416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237378772 (GRCh38)
2:238287415 (GRCh37)
Canonical SPDI:: NC_000002.12:237378771:C:T
Gene:: COL6A3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237378772C>T, NC_000002.11:g.238287415C>T, NG_008676.1:g.40436G>A, NM_057165.5:c.1743G>A, NM_057165.4:c.1743G>A, NM_057164.5:c.1140G>A, NM_057164.4:c.1140G>A, NM_004369.4:c.2361G>A, NM_004369.3:c.2361G>A, NM_057167.4:c.1743G>A, NM_057167.3:c.1743G>A

Select item 14840718178.

rs1484071817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:237374544 (GRCh38)
2:238283187 (GRCh37)
Canonical SPDI:: NC_000002.12:237374543:C:A
Gene:: COL6A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237374544C>A, NC_000002.11:g.238283187C>A, NG_008676.1:g.44664G>T, NM_057166.5:c.1726G>T, NM_057166.4:c.1726G>T, NM_057165.5:c.2929G>T, NM_057165.4:c.2929G>T, NM_057164.5:c.2326G>T, NM_057164.4:c.2326G>T, NM_004369.4:c.3547G>T, NM_004369.3:c.3547G>T, NM_057167.4:c.2929G>T, NM_057167.3:c.2929G>T, NP_476507.3:p.Asp576Tyr, NP_476506.3:p.Asp977Tyr, NP_476505.3:p.Asp776Tyr, NP_004360.2:p.Asp1183Tyr, NP_476508.2:p.Asp977Tyr

Select item 14833577859.

rs1483357785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237374648 (GRCh38)
2:238283291 (GRCh37)
Canonical SPDI:: NC_000002.12:237374647:A:G
Gene:: COL6A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.237374648A>G, NC_000002.11:g.238283291A>G, NG_008676.1:g.44560T>C, NM_057166.5:c.1622T>C, NM_057166.4:c.1622T>C, NM_057165.5:c.2825T>C, NM_057165.4:c.2825T>C, NM_057164.5:c.2222T>C, NM_057164.4:c.2222T>C, NM_004369.4:c.3443T>C, NM_004369.3:c.3443T>C, NM_057167.4:c.2825T>C, NM_057167.3:c.2825T>C, NP_476507.3:p.Val541Ala, NP_476506.3:p.Val942Ala, NP_476505.3:p.Val741Ala, NP_004360.2:p.Val1148Ala, NP_476508.2:p.Val942Ala

Select item 148088871910.

rs1480888719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:237371947 (GRCh38)
2:238280590 (GRCh37)
Canonical SPDI:: NC_000002.12:237371946:A:C,NC_000002.12:237371946:A:G
Gene:: COL6A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
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)
C=0.002183/4 (Korea1K)
HGVS:: NC_000002.12:g.237371947A>C, NC_000002.12:g.237371947A>G, NC_000002.11:g.238280590A>C, NC_000002.11:g.238280590A>G, NG_008676.1:g.47261T>G, NG_008676.1:g.47261T>C, NM_057166.5:c.2249T>G, NM_057166.5:c.2249T>C, NM_057166.4:c.2249T>G, NM_057166.4:c.2249T>C, NM_057165.5:c.3452T>G, NM_057165.5:c.3452T>C, NM_057165.4:c.3452T>G, NM_057165.4:c.3452T>C, NM_057164.5:c.2849T>G, NM_057164.5:c.2849T>C, NM_057164.4:c.2849T>G, NM_057164.4:c.2849T>C, NM_004369.4:c.4070T>G, NM_004369.4:c.4070T>C, NM_004369.3:c.4070T>G, NM_004369.3:c.4070T>C, NM_057167.4:c.3452T>G, NM_057167.4:c.3452T>C, NM_057167.3:c.3452T>G, NM_057167.3:c.3452T>C, NP_476507.3:p.Val750Gly, NP_476507.3:p.Val750Ala, NP_476506.3:p.Val1151Gly, NP_476506.3:p.Val1151Ala, NP_476505.3:p.Val950Gly, NP_476505.3:p.Val950Ala, NP_004360.2:p.Val1357Gly, NP_004360.2:p.Val1357Ala, NP_476508.2:p.Val1151Gly, NP_476508.2:p.Val1151Ala

Select item 148084810011.

rs1480848100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237371889 (GRCh38)
2:238280532 (GRCh37)
Canonical SPDI:: NC_000002.12:237371888:C:T
Gene:: COL6A3 (Varview)
Functional Consequence:: synonymous_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.237371889C>T, NC_000002.11:g.238280532C>T, NG_008676.1:g.47319G>A, NM_057166.5:c.2307G>A, NM_057166.4:c.2307G>A, NM_057165.5:c.3510G>A, NM_057165.4:c.3510G>A, NM_057164.5:c.2907G>A, NM_057164.4:c.2907G>A, NM_004369.4:c.4128G>A, NM_004369.3:c.4128G>A, NM_057167.4:c.3510G>A, NM_057167.3:c.3510G>A

Select item 147838922412.

rs1478389224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237379202 (GRCh38)
2:238287845 (GRCh37)
Canonical SPDI:: NC_000002.12:237379201:A:G
Gene:: COL6A3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.237379202A>G, NC_000002.11:g.238287845A>G, NG_008676.1:g.40006T>C, NM_057165.5:c.1313T>C, NM_057165.4:c.1313T>C, NM_057164.5:c.710T>C, NM_057164.4:c.710T>C, NM_004369.4:c.1931T>C, NM_004369.3:c.1931T>C, NM_057167.4:c.1313T>C, NM_057167.3:c.1313T>C, NP_476506.3:p.Leu438Ser, NP_476505.3:p.Leu237Ser, NP_004360.2:p.Leu644Ser, NP_476508.2:p.Leu438Ser

Select item 147546567213.

rs1475465672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237381451 (GRCh38)
2:238290094 (GRCh37)
Canonical SPDI:: NC_000002.12:237381450:G:A
Gene:: COL6A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237381451G>A, NC_000002.11:g.238290094G>A, NG_008676.1:g.37757C>T, NM_057166.5:c.140C>T, NM_057166.4:c.140C>T, NM_057165.5:c.743C>T, NM_057165.4:c.743C>T, NM_057164.5:c.140C>T, NM_057164.4:c.140C>T, NM_004369.4:c.1361C>T, NM_004369.3:c.1361C>T, NM_057167.4:c.743C>T, NM_057167.3:c.743C>T, NP_476507.3:p.Ser47Phe, NP_476506.3:p.Ser248Phe, NP_476505.3:p.Ser47Phe, NP_004360.2:p.Ser454Phe, NP_476508.2:p.Ser248Phe

Select item 147518936614.

rs1475189366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:237381413 (GRCh38)
2:238290056 (GRCh37)
Canonical SPDI:: NC_000002.12:237381412:A:C
Gene:: COL6A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237381413A>C, NC_000002.11:g.238290056A>C, NG_008676.1:g.37795T>G, NM_057166.5:c.178T>G, NM_057166.4:c.178T>G, NM_057165.5:c.781T>G, NM_057165.4:c.781T>G, NM_057164.5:c.178T>G, NM_057164.4:c.178T>G, NM_004369.4:c.1399T>G, NM_004369.3:c.1399T>G, NM_057167.4:c.781T>G, NM_057167.3:c.781T>G, NP_476507.3:p.Phe60Val, NP_476506.3:p.Phe261Val, NP_476505.3:p.Phe60Val, NP_004360.2:p.Phe467Val, NP_476508.2:p.Phe261Val

Select item 147422636015.

rs1474226360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237374532 (GRCh38)
2:238283175 (GRCh37)
Canonical SPDI:: NC_000002.12:237374531:C:T
Gene:: COL6A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.237374532C>T, NC_000002.11:g.238283175C>T, NG_008676.1:g.44676G>A, NM_057166.5:c.1738G>A, NM_057166.4:c.1738G>A, NM_057165.5:c.2941G>A, NM_057165.4:c.2941G>A, NM_057164.5:c.2338G>A, NM_057164.4:c.2338G>A, NM_004369.4:c.3559G>A, NM_004369.3:c.3559G>A, NM_057167.4:c.2941G>A, NM_057167.3:c.2941G>A, NP_476507.3:p.Ala580Thr, NP_476506.3:p.Ala981Thr, NP_476505.3:p.Ala780Thr, NP_004360.2:p.Ala1187Thr, NP_476508.2:p.Ala981Thr

Select item 147369829616.

rs1473698296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237374498 (GRCh38)
2:238283141 (GRCh37)
Canonical SPDI:: NC_000002.12:237374497:T:C
Gene:: COL6A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237374498T>C, NC_000002.11:g.238283141T>C, NG_008676.1:g.44710A>G, NM_057166.5:c.1772A>G, NM_057166.4:c.1772A>G, NM_057165.5:c.2975A>G, NM_057165.4:c.2975A>G, NM_057164.5:c.2372A>G, NM_057164.4:c.2372A>G, NM_004369.4:c.3593A>G, NM_004369.3:c.3593A>G, NM_057167.4:c.2975A>G, NM_057167.3:c.2975A>G, NP_476507.3:p.Gln591Arg, NP_476506.3:p.Gln992Arg, NP_476505.3:p.Gln791Arg, NP_004360.2:p.Gln1198Arg, NP_476508.2:p.Gln992Arg

Select item 147212654117.

rs1472126541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237377039 (GRCh38)
2:238285682 (GRCh37)
Canonical SPDI:: NC_000002.12:237377038:G:A
Gene:: COL6A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000073/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.237377039G>A, NC_000002.11:g.238285682G>A, NG_008676.1:g.42169C>T, NM_057166.5:c.982C>T, NM_057166.4:c.982C>T, NM_057165.5:c.2185C>T, NM_057165.4:c.2185C>T, NM_057164.5:c.1582C>T, NM_057164.4:c.1582C>T, NM_004369.4:c.2803C>T, NM_004369.3:c.2803C>T, NM_057167.4:c.2185C>T, NM_057167.3:c.2185C>T, NP_476507.3:p.Arg328Trp, NP_476506.3:p.Arg729Trp, NP_476505.3:p.Arg528Trp, NP_004360.2:p.Arg935Trp, NP_476508.2:p.Arg729Trp

Select item 146989463018.

rs1469894630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237379060 (GRCh38)
2:238287703 (GRCh37)
Canonical SPDI:: NC_000002.12:237379059:G:A
Gene:: COL6A3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237379060G>A, NC_000002.11:g.238287703G>A, NG_008676.1:g.40148C>T, NM_057165.5:c.1455C>T, NM_057165.4:c.1455C>T, NM_057164.5:c.852C>T, NM_057164.4:c.852C>T, NM_004369.4:c.2073C>T, NM_004369.3:c.2073C>T, NM_057167.4:c.1455C>T, NM_057167.3:c.1455C>T

Select item 146934826519.

rs1469348265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:237378765 (GRCh38)
2:238287408 (GRCh37)
Canonical SPDI:: NC_000002.12:237378764:C:A
Gene:: COL6A3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237378765C>A, NC_000002.11:g.238287408C>A, NG_008676.1:g.40443G>T, NM_057165.5:c.1750G>T, NM_057165.4:c.1750G>T, NM_057164.5:c.1147G>T, NM_057164.4:c.1147G>T, NM_004369.4:c.2368G>T, NM_004369.3:c.2368G>T, NM_057167.4:c.1750G>T, NM_057167.3:c.1750G>T, NP_476506.3:p.Ala584Ser, NP_476505.3:p.Ala383Ser, NP_004360.2:p.Ala790Ser, NP_476508.2:p.Ala584Ser

Select item 146822729820.

rs1468227298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237374795 (GRCh38)
2:238283438 (GRCh37)
Canonical SPDI:: NC_000002.12:237374794:G:A
Gene:: COL6A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.237374795G>A, NC_000002.11:g.238283438G>A, NG_008676.1:g.44413C>T, NM_057166.5:c.1475C>T, NM_057166.4:c.1475C>T, NM_057165.5:c.2678C>T, NM_057165.4:c.2678C>T, NM_057164.5:c.2075C>T, NM_057164.4:c.2075C>T, NM_004369.4:c.3296C>T, NM_004369.3:c.3296C>T, NM_057167.4:c.2678C>T, NM_057167.3:c.2678C>T, NP_476507.3:p.Thr492Ile, NP_476506.3:p.Thr893Ile, NP_476505.3:p.Thr692Ile, NP_004360.2:p.Thr1099Ile, NP_476508.2:p.Thr893Ile

dbSNP

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