SNP Links for Protein (Select 56682962) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 404

<< First< Prev

Page of 21

Next >Last >>

Select item 14908480731.

rs1490848073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:92709748 (GRCh38)
14:93176093 (GRCh37)
Canonical SPDI:: NC_000014.9:92709747:A:G
Gene:: LGMN (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_000014.9:g.92709748A>G, NC_000014.8:g.93176093A>G, NM_005606.7:c.944T>C, NM_005606.6:c.944T>C, XM_005267862.4:c.944T>C, XM_005267862.3:c.944T>C, XM_005267862.2:c.944T>C, XM_005267862.1:c.944T>C, XM_005267863.4:c.944T>C, XM_005267863.3:c.944T>C, XM_005267863.2:c.944T>C, XM_005267863.1:c.944T>C, NM_001008530.3:c.944T>C, NM_001008530.2:c.944T>C, NM_001363696.2:c.944T>C, NM_001363696.1:c.944T>C, XM_011536970.2:c.944T>C, XM_011536970.1:c.944T>C, XM_017021463.2:c.944T>C, XM_017021463.1:c.944T>C, NM_001363699.2:c.944T>C, NM_001363699.1:c.944T>C, XM_047431597.1:c.944T>C, XM_047431595.1:c.944T>C, XM_047431598.1:c.944T>C, NP_005597.3:p.Met315Thr, XP_005267919.1:p.Met315Thr, XP_005267920.1:p.Met315Thr, NP_001008530.1:p.Met315Thr, NP_001350625.1:p.Met315Thr, XP_011535272.1:p.Met315Thr, XP_016876952.1:p.Met315Thr, NP_001350628.1:p.Met315Thr, XP_047287553.1:p.Met315Thr, XP_047287551.1:p.Met315Thr, XP_047287554.1:p.Met315Thr

Select item 14900303282.

rs1490030328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92714402 (GRCh38)
14:93180747 (GRCh37)
Canonical SPDI:: NC_000014.9:92714401:C:T
Gene:: LGMN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92714402C>T, NC_000014.8:g.93180747C>T, NM_005606.7:c.454G>A, NM_005606.6:c.454G>A, XM_005267862.4:c.454G>A, XM_005267862.3:c.454G>A, XM_005267862.2:c.454G>A, XM_005267862.1:c.454G>A, XM_005267863.4:c.454G>A, XM_005267863.3:c.454G>A, XM_005267863.2:c.454G>A, XM_005267863.1:c.454G>A, NM_001008530.3:c.454G>A, NM_001008530.2:c.454G>A, NM_001363696.2:c.454G>A, NM_001363696.1:c.454G>A, XM_011536970.2:c.454G>A, XM_011536970.1:c.454G>A, XM_017021463.2:c.454G>A, XM_017021463.1:c.454G>A, NM_001363699.2:c.454G>A, NM_001363699.1:c.454G>A, XM_047431597.1:c.454G>A, XM_047431595.1:c.454G>A, XM_047431598.1:c.454G>A, NP_005597.3:p.Gly152Arg, XP_005267919.1:p.Gly152Arg, XP_005267920.1:p.Gly152Arg, NP_001008530.1:p.Gly152Arg, NP_001350625.1:p.Gly152Arg, XP_011535272.1:p.Gly152Arg, XP_016876952.1:p.Gly152Arg, NP_001350628.1:p.Gly152Arg, XP_047287553.1:p.Gly152Arg, XP_047287551.1:p.Gly152Arg, XP_047287554.1:p.Gly152Arg

Select item 14897252553.

rs1489725255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:92732764 (GRCh38)
14:93199109 (GRCh37)
Canonical SPDI:: NC_000014.9:92732763:A:C
Gene:: LGMN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92732764A>C, NC_000014.8:g.93199109A>C, NM_005606.7:c.23T>G, NM_005606.6:c.23T>G, XM_005267862.4:c.23T>G, XM_005267862.3:c.23T>G, XM_005267862.2:c.23T>G, XM_005267862.1:c.23T>G, XM_005267863.4:c.23T>G, XM_005267863.3:c.23T>G, XM_005267863.2:c.23T>G, XM_005267863.1:c.23T>G, NM_001008530.3:c.23T>G, NM_001008530.2:c.23T>G, NM_001363696.2:c.23T>G, NM_001363696.1:c.23T>G, XM_011536970.2:c.23T>G, XM_011536970.1:c.23T>G, XM_017021463.2:c.23T>G, XM_017021463.1:c.23T>G, NM_001363699.2:c.23T>G, NM_001363699.1:c.23T>G, XM_047431597.1:c.23T>G, XM_047431595.1:c.23T>G, XM_047431598.1:c.23T>G, NP_005597.3:p.Phe8Cys, XP_005267919.1:p.Phe8Cys, XP_005267920.1:p.Phe8Cys, NP_001008530.1:p.Phe8Cys, NP_001350625.1:p.Phe8Cys, XP_011535272.1:p.Phe8Cys, XP_016876952.1:p.Phe8Cys, NP_001350628.1:p.Phe8Cys, XP_047287553.1:p.Phe8Cys, XP_047287551.1:p.Phe8Cys, XP_047287554.1:p.Phe8Cys

Select item 14885937544.

rs1488593754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:92713843 (GRCh38)
14:93180188 (GRCh37)
Canonical SPDI:: NC_000014.9:92713842:T:G
Gene:: LGMN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.92713843T>G, NC_000014.8:g.93180188T>G, NM_005606.7:c.523A>C, NM_005606.6:c.523A>C, XM_005267862.4:c.523A>C, XM_005267862.3:c.523A>C, XM_005267862.2:c.523A>C, XM_005267862.1:c.523A>C, XM_005267863.4:c.523A>C, XM_005267863.3:c.523A>C, XM_005267863.2:c.523A>C, XM_005267863.1:c.523A>C, NM_001008530.3:c.523A>C, NM_001008530.2:c.523A>C, NM_001363696.2:c.523A>C, NM_001363696.1:c.523A>C, XM_011536970.2:c.523A>C, XM_011536970.1:c.523A>C, XM_017021463.2:c.523A>C, XM_017021463.1:c.523A>C, NM_001363699.2:c.523A>C, NM_001363699.1:c.523A>C, XM_047431597.1:c.523A>C, XM_047431595.1:c.523A>C, XM_047431598.1:c.523A>C, NP_005597.3:p.Lys175Gln, XP_005267919.1:p.Lys175Gln, XP_005267920.1:p.Lys175Gln, NP_001008530.1:p.Lys175Gln, NP_001350625.1:p.Lys175Gln, XP_011535272.1:p.Lys175Gln, XP_016876952.1:p.Lys175Gln, NP_001350628.1:p.Lys175Gln, XP_047287553.1:p.Lys175Gln, XP_047287551.1:p.Lys175Gln, XP_047287554.1:p.Lys175Gln

Select item 14883288325.

rs1488328832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:92718810 (GRCh38)
14:93185155 (GRCh37)
Canonical SPDI:: NC_000014.9:92718809:C:A,NC_000014.9:92718809:C:T
Gene:: LGMN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.92718810C>A, NC_000014.9:g.92718810C>T, NC_000014.8:g.93185155C>A, NC_000014.8:g.93185155C>T, NM_005606.7:c.173G>T, NM_005606.7:c.173G>A, NM_005606.6:c.173G>T, NM_005606.6:c.173G>A, XM_005267862.4:c.173G>T, XM_005267862.4:c.173G>A, XM_005267862.3:c.173G>T, XM_005267862.3:c.173G>A, XM_005267862.2:c.173G>T, XM_005267862.2:c.173G>A, XM_005267862.1:c.173G>T, XM_005267862.1:c.173G>A, XM_005267863.4:c.173G>T, XM_005267863.4:c.173G>A, XM_005267863.3:c.173G>T, XM_005267863.3:c.173G>A, XM_005267863.2:c.173G>T, XM_005267863.2:c.173G>A, XM_005267863.1:c.173G>T, XM_005267863.1:c.173G>A, NM_001008530.3:c.173G>T, NM_001008530.3:c.173G>A, NM_001008530.2:c.173G>T, NM_001008530.2:c.173G>A, NM_001363696.2:c.173G>T, NM_001363696.2:c.173G>A, NM_001363696.1:c.173G>T, NM_001363696.1:c.173G>A, XM_011536970.2:c.173G>T, XM_011536970.2:c.173G>A, XM_011536970.1:c.173G>T, XM_011536970.1:c.173G>A, XM_017021463.2:c.173G>T, XM_017021463.2:c.173G>A, XM_017021463.1:c.173G>T, XM_017021463.1:c.173G>A, NM_001363699.2:c.173G>T, NM_001363699.2:c.173G>A, NM_001363699.1:c.173G>T, NM_001363699.1:c.173G>A, XM_047431597.1:c.173G>T, XM_047431597.1:c.173G>A, XM_047431595.1:c.173G>T, XM_047431595.1:c.173G>A, XM_047431598.1:c.173G>T, XM_047431598.1:c.173G>A, NP_005597.3:p.Arg58Leu, NP_005597.3:p.Arg58His, XP_005267919.1:p.Arg58Leu, XP_005267919.1:p.Arg58His, XP_005267920.1:p.Arg58Leu, XP_005267920.1:p.Arg58His, NP_001008530.1:p.Arg58Leu, NP_001008530.1:p.Arg58His, NP_001350625.1:p.Arg58Leu, NP_001350625.1:p.Arg58His, XP_011535272.1:p.Arg58Leu, XP_011535272.1:p.Arg58His, XP_016876952.1:p.Arg58Leu, XP_016876952.1:p.Arg58His, NP_001350628.1:p.Arg58Leu, NP_001350628.1:p.Arg58His, XP_047287553.1:p.Arg58Leu, XP_047287553.1:p.Arg58His, XP_047287551.1:p.Arg58Leu, XP_047287551.1:p.Arg58His, XP_047287554.1:p.Arg58Leu, XP_047287554.1:p.Arg58His

Select item 14854447146.

rs1485444714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:92709806 (GRCh38)
14:93176151 (GRCh37)
Canonical SPDI:: NC_000014.9:92709805:G:A
Gene:: LGMN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92709806G>A, NC_000014.8:g.93176151G>A, NM_005606.7:c.886C>T, NM_005606.6:c.886C>T, XM_005267862.4:c.886C>T, XM_005267862.3:c.886C>T, XM_005267862.2:c.886C>T, XM_005267862.1:c.886C>T, XM_005267863.4:c.886C>T, XM_005267863.3:c.886C>T, XM_005267863.2:c.886C>T, XM_005267863.1:c.886C>T, NM_001008530.3:c.886C>T, NM_001008530.2:c.886C>T, NM_001363696.2:c.886C>T, NM_001363696.1:c.886C>T, XM_011536970.2:c.886C>T, XM_011536970.1:c.886C>T, XM_017021463.2:c.886C>T, XM_017021463.1:c.886C>T, NM_001363699.2:c.886C>T, NM_001363699.1:c.886C>T, XM_047431597.1:c.886C>T, XM_047431595.1:c.886C>T, XM_047431598.1:c.886C>T

Select item 14840932827.

rs1484093282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92732714 (GRCh38)
14:93199059 (GRCh37)
Canonical SPDI:: NC_000014.9:92732713:C:T
Gene:: LGMN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.92732714C>T, NC_000014.8:g.93199059C>T, NM_005606.7:c.73G>A, NM_005606.6:c.73G>A, XM_005267862.4:c.73G>A, XM_005267862.3:c.73G>A, XM_005267862.2:c.73G>A, XM_005267862.1:c.73G>A, XM_005267863.4:c.73G>A, XM_005267863.3:c.73G>A, XM_005267863.2:c.73G>A, XM_005267863.1:c.73G>A, NM_001008530.3:c.73G>A, NM_001008530.2:c.73G>A, NM_001363696.2:c.73G>A, NM_001363696.1:c.73G>A, XM_011536970.2:c.73G>A, XM_011536970.1:c.73G>A, XM_017021463.2:c.73G>A, XM_017021463.1:c.73G>A, NM_001363699.2:c.73G>A, NM_001363699.1:c.73G>A, XM_047431597.1:c.73G>A, XM_047431595.1:c.73G>A, XM_047431598.1:c.73G>A, NP_005597.3:p.Asp25Asn, XP_005267919.1:p.Asp25Asn, XP_005267920.1:p.Asp25Asn, NP_001008530.1:p.Asp25Asn, NP_001350625.1:p.Asp25Asn, XP_011535272.1:p.Asp25Asn, XP_016876952.1:p.Asp25Asn, NP_001350628.1:p.Asp25Asn, XP_047287553.1:p.Asp25Asn, XP_047287551.1:p.Asp25Asn, XP_047287554.1:p.Asp25Asn

Select item 14824532748.

rs1482453274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92706596 (GRCh38)
14:93172941 (GRCh37)
Canonical SPDI:: NC_000014.9:92706595:C:T
Gene:: LGMN (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000684/2 (KOREAN)
HGVS:: NC_000014.9:g.92706596C>T, NC_000014.8:g.93172941C>T, NM_005606.7:c.1078G>A, NM_005606.6:c.1078G>A, NM_001008530.3:c.1078G>A, NM_001008530.2:c.1078G>A, XM_011536970.2:c.1078G>A, XM_011536970.1:c.1078G>A, XM_017021463.2:c.1078G>A, XM_017021463.1:c.1078G>A, XM_047431597.1:c.1078G>A, XM_047431595.1:c.1078G>A, XM_047431598.1:c.1078G>A, NP_005597.3:p.Glu360Lys, NP_001008530.1:p.Glu360Lys, XP_011535272.1:p.Glu360Lys, XP_016876952.1:p.Glu360Lys, XP_047287553.1:p.Glu360Lys, XP_047287551.1:p.Glu360Lys, XP_047287554.1:p.Glu360Lys

Select item 14773744219.

rs1477374421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:92704707 (GRCh38)
14:93171052 (GRCh37)
Canonical SPDI:: NC_000014.9:92704706:A:G
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92704707A>G, NC_000014.8:g.93171052A>G, NM_005606.7:c.1192T>C, NM_005606.6:c.1192T>C, XM_005267862.4:c.1021T>C, XM_005267862.3:c.1021T>C, XM_005267862.2:c.1021T>C, XM_005267862.1:c.1021T>C, NM_001008530.3:c.1192T>C, NM_001008530.2:c.1192T>C, NM_001363696.2:c.1021T>C, NM_001363696.1:c.1021T>C, XM_017021463.2:c.1192T>C, XM_017021463.1:c.1192T>C, XM_047431597.1:c.1192T>C, XM_047431595.1:c.1192T>C, NP_005597.3:p.Tyr398His, XP_005267919.1:p.Tyr341His, NP_001008530.1:p.Tyr398His, NP_001350625.1:p.Tyr341His, XP_016876952.1:p.Tyr398His, XP_047287553.1:p.Tyr398His, XP_047287551.1:p.Tyr398His

Select item 147699782110.

rs1476997821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:92732783 (GRCh38)
14:93199128 (GRCh37)
Canonical SPDI:: NC_000014.9:92732782:C:A
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.92732783C>A, NC_000014.8:g.93199128C>A, NM_005606.7:c.4G>T, NM_005606.6:c.4G>T, XM_005267862.4:c.4G>T, XM_005267862.3:c.4G>T, XM_005267862.2:c.4G>T, XM_005267862.1:c.4G>T, XM_005267863.4:c.4G>T, XM_005267863.3:c.4G>T, XM_005267863.2:c.4G>T, XM_005267863.1:c.4G>T, NM_001008530.3:c.4G>T, NM_001008530.2:c.4G>T, NM_001363696.2:c.4G>T, NM_001363696.1:c.4G>T, XM_011536970.2:c.4G>T, XM_011536970.1:c.4G>T, XM_017021463.2:c.4G>T, XM_017021463.1:c.4G>T, NM_001363699.2:c.4G>T, NM_001363699.1:c.4G>T, XM_047431597.1:c.4G>T, XM_047431595.1:c.4G>T, XM_047431598.1:c.4G>T, NP_005597.3:p.Val2Phe, XP_005267919.1:p.Val2Phe, XP_005267920.1:p.Val2Phe, NP_001008530.1:p.Val2Phe, NP_001350625.1:p.Val2Phe, XP_011535272.1:p.Val2Phe, XP_016876952.1:p.Val2Phe, NP_001350628.1:p.Val2Phe, XP_047287553.1:p.Val2Phe, XP_047287551.1:p.Val2Phe, XP_047287554.1:p.Val2Phe

Select item 147657784111.

rs1476577841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:92718752 (GRCh38)
14:93185097 (GRCh37)
Canonical SPDI:: NC_000014.9:92718751:A:G
Gene:: LGMN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.92718752A>G, NC_000014.8:g.93185097A>G, NM_005606.7:c.231T>C, NM_005606.6:c.231T>C, XM_005267862.4:c.231T>C, XM_005267862.3:c.231T>C, XM_005267862.2:c.231T>C, XM_005267862.1:c.231T>C, XM_005267863.4:c.231T>C, XM_005267863.3:c.231T>C, XM_005267863.2:c.231T>C, XM_005267863.1:c.231T>C, NM_001008530.3:c.231T>C, NM_001008530.2:c.231T>C, NM_001363696.2:c.231T>C, NM_001363696.1:c.231T>C, XM_011536970.2:c.231T>C, XM_011536970.1:c.231T>C, XM_017021463.2:c.231T>C, XM_017021463.1:c.231T>C, NM_001363699.2:c.231T>C, NM_001363699.1:c.231T>C, XM_047431597.1:c.231T>C, XM_047431595.1:c.231T>C, XM_047431598.1:c.231T>C

Select item 147412134812.

rs1474121348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:92712854 (GRCh38)
14:93179199 (GRCh37)
Canonical SPDI:: NC_000014.9:92712853:T:G
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92712854T>G, NC_000014.8:g.93179199T>G, NM_005606.7:c.561A>C, NM_005606.6:c.561A>C, XM_005267862.4:c.561A>C, XM_005267862.3:c.561A>C, XM_005267862.2:c.561A>C, XM_005267862.1:c.561A>C, XM_005267863.4:c.561A>C, XM_005267863.3:c.561A>C, XM_005267863.2:c.561A>C, XM_005267863.1:c.561A>C, NM_001008530.3:c.561A>C, NM_001008530.2:c.561A>C, NM_001363696.2:c.561A>C, NM_001363696.1:c.561A>C, XM_011536970.2:c.561A>C, XM_011536970.1:c.561A>C, XM_017021463.2:c.561A>C, XM_017021463.1:c.561A>C, NM_001363699.2:c.561A>C, NM_001363699.1:c.561A>C, XM_047431597.1:c.561A>C, XM_047431595.1:c.561A>C, XM_047431598.1:c.561A>C, NP_005597.3:p.Glu187Asp, XP_005267919.1:p.Glu187Asp, XP_005267920.1:p.Glu187Asp, NP_001008530.1:p.Glu187Asp, NP_001350625.1:p.Glu187Asp, XP_011535272.1:p.Glu187Asp, XP_016876952.1:p.Glu187Asp, NP_001350628.1:p.Glu187Asp, XP_047287553.1:p.Glu187Asp, XP_047287551.1:p.Glu187Asp, XP_047287554.1:p.Glu187Asp

Select item 146867072713.

rs1468670727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:92706483 (GRCh38)
14:93172828 (GRCh37)
Canonical SPDI:: NC_000014.9:92706482:C:A,NC_000014.9:92706482:C:T
Gene:: LGMN (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92706483C>A, NC_000014.9:g.92706483C>T, NC_000014.8:g.93172828C>A, NC_000014.8:g.93172828C>T, NM_005606.7:c.1191G>T, NM_005606.7:c.1191G>A, NM_005606.6:c.1191G>T, NM_005606.6:c.1191G>A, NM_001008530.3:c.1191G>T, NM_001008530.3:c.1191G>A, NM_001008530.2:c.1191G>T, NM_001008530.2:c.1191G>A, XM_011536970.2:c.1191G>T, XM_011536970.2:c.1191G>A, XM_011536970.1:c.1191G>T, XM_011536970.1:c.1191G>A, XM_017021463.2:c.1191G>T, XM_017021463.2:c.1191G>A, XM_017021463.1:c.1191G>T, XM_017021463.1:c.1191G>A, XM_047431597.1:c.1191G>T, XM_047431597.1:c.1191G>A, XM_047431595.1:c.1191G>T, XM_047431595.1:c.1191G>A, XM_047431598.1:c.1191G>T, XM_047431598.1:c.1191G>A

Select item 146730118814.

rs1467301188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92709713 (GRCh38)
14:93176058 (GRCh37)
Canonical SPDI:: NC_000014.9:92709712:C:T
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.92709713C>T, NC_000014.8:g.93176058C>T, NM_005606.7:c.979G>A, NM_005606.6:c.979G>A, XM_005267862.4:c.979G>A, XM_005267862.3:c.979G>A, XM_005267862.2:c.979G>A, XM_005267862.1:c.979G>A, XM_005267863.4:c.979G>A, XM_005267863.3:c.979G>A, XM_005267863.2:c.979G>A, XM_005267863.1:c.979G>A, NM_001008530.3:c.979G>A, NM_001008530.2:c.979G>A, NM_001363696.2:c.979G>A, NM_001363696.1:c.979G>A, XM_011536970.2:c.979G>A, XM_011536970.1:c.979G>A, XM_017021463.2:c.979G>A, XM_017021463.1:c.979G>A, NM_001363699.2:c.979G>A, NM_001363699.1:c.979G>A, XM_047431597.1:c.979G>A, XM_047431595.1:c.979G>A, XM_047431598.1:c.979G>A, NP_005597.3:p.Glu327Lys, XP_005267919.1:p.Glu327Lys, XP_005267920.1:p.Glu327Lys, NP_001008530.1:p.Glu327Lys, NP_001350625.1:p.Glu327Lys, XP_011535272.1:p.Glu327Lys, XP_016876952.1:p.Glu327Lys, NP_001350628.1:p.Glu327Lys, XP_047287553.1:p.Glu327Lys, XP_047287551.1:p.Glu327Lys, XP_047287554.1:p.Glu327Lys

Select item 146422757915.

rs1464227579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:92732713 (GRCh38)
14:93199058 (GRCh37)
Canonical SPDI:: NC_000014.9:92732712:T:C
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92732713T>C, NC_000014.8:g.93199058T>C, NM_005606.7:c.74A>G, NM_005606.6:c.74A>G, XM_005267862.4:c.74A>G, XM_005267862.3:c.74A>G, XM_005267862.2:c.74A>G, XM_005267862.1:c.74A>G, XM_005267863.4:c.74A>G, XM_005267863.3:c.74A>G, XM_005267863.2:c.74A>G, XM_005267863.1:c.74A>G, NM_001008530.3:c.74A>G, NM_001008530.2:c.74A>G, NM_001363696.2:c.74A>G, NM_001363696.1:c.74A>G, XM_011536970.2:c.74A>G, XM_011536970.1:c.74A>G, XM_017021463.2:c.74A>G, XM_017021463.1:c.74A>G, NM_001363699.2:c.74A>G, NM_001363699.1:c.74A>G, XM_047431597.1:c.74A>G, XM_047431595.1:c.74A>G, XM_047431598.1:c.74A>G, NP_005597.3:p.Asp25Gly, XP_005267919.1:p.Asp25Gly, XP_005267920.1:p.Asp25Gly, NP_001008530.1:p.Asp25Gly, NP_001350625.1:p.Asp25Gly, XP_011535272.1:p.Asp25Gly, XP_016876952.1:p.Asp25Gly, NP_001350628.1:p.Asp25Gly, XP_047287553.1:p.Asp25Gly, XP_047287551.1:p.Asp25Gly, XP_047287554.1:p.Asp25Gly

Select item 146163779216.

rs1461637792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:92717427 (GRCh38)
14:93183772 (GRCh37)
Canonical SPDI:: NC_000014.9:92717426:T:C
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.92717427T>C, NC_000014.8:g.93183772T>C, NM_005606.7:c.271A>G, NM_005606.6:c.271A>G, XM_005267862.4:c.271A>G, XM_005267862.3:c.271A>G, XM_005267862.2:c.271A>G, XM_005267862.1:c.271A>G, XM_005267863.4:c.271A>G, XM_005267863.3:c.271A>G, XM_005267863.2:c.271A>G, XM_005267863.1:c.271A>G, NM_001008530.3:c.271A>G, NM_001008530.2:c.271A>G, NM_001363696.2:c.271A>G, NM_001363696.1:c.271A>G, XM_011536970.2:c.271A>G, XM_011536970.1:c.271A>G, XM_017021463.2:c.271A>G, XM_017021463.1:c.271A>G, NM_001363699.2:c.271A>G, NM_001363699.1:c.271A>G, XM_047431597.1:c.271A>G, XM_047431595.1:c.271A>G, XM_047431598.1:c.271A>G, NP_005597.3:p.Asn91Asp, XP_005267919.1:p.Asn91Asp, XP_005267920.1:p.Asn91Asp, NP_001008530.1:p.Asn91Asp, NP_001350625.1:p.Asn91Asp, XP_011535272.1:p.Asn91Asp, XP_016876952.1:p.Asn91Asp, NP_001350628.1:p.Asn91Asp, XP_047287553.1:p.Asn91Asp, XP_047287551.1:p.Asn91Asp, XP_047287554.1:p.Asn91Asp

Select item 146104933617.

rs1461049336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:92711868 (GRCh38)
14:93178213 (GRCh37)
Canonical SPDI:: NC_000014.9:92711867:T:C
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92711868T>C, NC_000014.8:g.93178213T>C, NM_005606.7:c.698A>G, NM_005606.6:c.698A>G, XM_005267862.4:c.698A>G, XM_005267862.3:c.698A>G, XM_005267862.2:c.698A>G, XM_005267862.1:c.698A>G, XM_005267863.4:c.698A>G, XM_005267863.3:c.698A>G, XM_005267863.2:c.698A>G, XM_005267863.1:c.698A>G, NM_001008530.3:c.698A>G, NM_001008530.2:c.698A>G, NM_001363696.2:c.698A>G, NM_001363696.1:c.698A>G, XM_011536970.2:c.698A>G, XM_011536970.1:c.698A>G, XM_017021463.2:c.698A>G, XM_017021463.1:c.698A>G, NM_001363699.2:c.698A>G, NM_001363699.1:c.698A>G, XM_047431597.1:c.698A>G, XM_047431595.1:c.698A>G, XM_047431598.1:c.698A>G, NP_005597.3:p.Tyr233Cys, XP_005267919.1:p.Tyr233Cys, XP_005267920.1:p.Tyr233Cys, NP_001008530.1:p.Tyr233Cys, NP_001350625.1:p.Tyr233Cys, XP_011535272.1:p.Tyr233Cys, XP_016876952.1:p.Tyr233Cys, NP_001350628.1:p.Tyr233Cys, XP_047287553.1:p.Tyr233Cys, XP_047287551.1:p.Tyr233Cys, XP_047287554.1:p.Tyr233Cys

Select item 145922126218.

rs1459221262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:92717455 (GRCh38)
14:93183800 (GRCh37)
Canonical SPDI:: NC_000014.9:92717454:G:C
Gene:: LGMN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000014.9:g.92717455G>C, NC_000014.8:g.93183800G>C, NM_005606.7:c.243C>G, NM_005606.6:c.243C>G, XM_005267862.4:c.243C>G, XM_005267862.3:c.243C>G, XM_005267862.2:c.243C>G, XM_005267862.1:c.243C>G, XM_005267863.4:c.243C>G, XM_005267863.3:c.243C>G, XM_005267863.2:c.243C>G, XM_005267863.1:c.243C>G, NM_001008530.3:c.243C>G, NM_001008530.2:c.243C>G, NM_001363696.2:c.243C>G, NM_001363696.1:c.243C>G, XM_011536970.2:c.243C>G, XM_011536970.1:c.243C>G, XM_017021463.2:c.243C>G, XM_017021463.1:c.243C>G, NM_001363699.2:c.243C>G, NM_001363699.1:c.243C>G, XM_047431597.1:c.243C>G, XM_047431595.1:c.243C>G, XM_047431598.1:c.243C>G

Select item 145694453619.

rs1456944536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:92704662 (GRCh38)
14:93171007 (GRCh37)
Canonical SPDI:: NC_000014.9:92704661:C:G
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000014.9:g.92704662C>G, NC_000014.8:g.93171007C>G, NM_005606.7:c.1237G>C, NM_005606.6:c.1237G>C, XM_005267862.4:c.1066G>C, XM_005267862.3:c.1066G>C, XM_005267862.2:c.1066G>C, XM_005267862.1:c.1066G>C, NM_001008530.3:c.1237G>C, NM_001008530.2:c.1237G>C, NM_001363696.2:c.1066G>C, NM_001363696.1:c.1066G>C, XM_017021463.2:c.1237G>C, XM_017021463.1:c.1237G>C, XM_047431597.1:c.1237G>C, XM_047431595.1:c.1237G>C, NP_005597.3:p.Glu413Gln, XP_005267919.1:p.Glu356Gln, NP_001008530.1:p.Glu413Gln, NP_001350625.1:p.Glu356Gln, XP_016876952.1:p.Glu413Gln, XP_047287553.1:p.Glu413Gln, XP_047287551.1:p.Glu413Gln

Select item 145584249620.

rs1455842496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:92711729 (GRCh38)
14:93178074 (GRCh37)
Canonical SPDI:: NC_000014.9:92711728:G:A
Gene:: LGMN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92711729G>A, NC_000014.8:g.93178074G>A, NM_005606.7:c.749C>T, NM_005606.6:c.749C>T, XM_005267862.4:c.749C>T, XM_005267862.3:c.749C>T, XM_005267862.2:c.749C>T, XM_005267862.1:c.749C>T, XM_005267863.4:c.749C>T, XM_005267863.3:c.749C>T, XM_005267863.2:c.749C>T, XM_005267863.1:c.749C>T, NM_001008530.3:c.749C>T, NM_001008530.2:c.749C>T, NM_001363696.2:c.749C>T, NM_001363696.1:c.749C>T, XM_011536970.2:c.749C>T, XM_011536970.1:c.749C>T, XM_017021463.2:c.749C>T, XM_017021463.1:c.749C>T, NM_001363699.2:c.749C>T, NM_001363699.1:c.749C>T, XM_047431597.1:c.749C>T, XM_047431595.1:c.749C>T, XM_047431598.1:c.749C>T, NP_005597.3:p.Thr250Ile, XP_005267919.1:p.Thr250Ile, XP_005267920.1:p.Thr250Ile, NP_001008530.1:p.Thr250Ile, NP_001350625.1:p.Thr250Ile, XP_011535272.1:p.Thr250Ile, XP_016876952.1:p.Thr250Ile, NP_001350628.1:p.Thr250Ile, XP_047287553.1:p.Thr250Ile, XP_047287551.1:p.Thr250Ile, XP_047287554.1:p.Thr250Ile

<< First< Prev

Page of 21

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 56682962) (404)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: