SNP Links for Protein (Select 578837724) - SNP

Links from Protein

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Select item 14908416331.

rs1490841633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50503817 (GRCh38)
22:50942246 (GRCh37)
Canonical SPDI:: NC_000022.11:50503816:A:G
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50503817A>G, NC_000022.10:g.50942246A>G, NG_021419.1:g.602A>G, XM_006724426.4:c.1641T>C, XM_006724426.3:c.1641T>C, XM_006724426.2:c.1641T>C, XM_006724426.1:c.1641T>C, NM_033200.3:c.1806T>C, NM_033200.2:c.1806T>C, NM_001363816.2:c.1731T>C, NM_001363816.1:c.1731T>C, XM_047441593.1:c.804T>C

Select item 14908104062.

rs1490810406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50503427 (GRCh38)
22:50941856 (GRCh37)
Canonical SPDI:: NC_000022.11:50503426:G:A
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50503427G>A, NC_000022.10:g.50941856G>A, NG_021419.1:g.212G>A, XM_006724426.4:c.1923C>T, XM_006724426.3:c.1923C>T, XM_006724426.2:c.1923C>T, XM_006724426.1:c.1923C>T, NM_033200.3:c.2088C>T, NM_033200.2:c.2088C>T, NM_001363816.2:c.2013C>T, NM_001363816.1:c.2013C>T, XM_047441593.1:c.1086C>T

Select item 14900605613.

rs1490060561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:50503578 (GRCh38)
22:50942007 (GRCh37)
Canonical SPDI:: NC_000022.11:50503577:A:C
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.50503578A>C, NC_000022.10:g.50942007A>C, NG_021419.1:g.363A>C, XM_006724426.4:c.1772T>G, XM_006724426.3:c.1772T>G, XM_006724426.2:c.1772T>G, XM_006724426.1:c.1772T>G, NM_033200.3:c.1937T>G, NM_033200.2:c.1937T>G, NM_001363816.2:c.1862T>G, NM_001363816.1:c.1862T>G, XM_047441593.1:c.935T>G, XP_006724489.1:p.Val591Gly, NP_149977.2:p.Val646Gly, NP_001350745.1:p.Val621Gly, XP_047297549.1:p.Val312Gly

Select item 14893600444.

rs1489360044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50506043 (GRCh38)
22:50944472 (GRCh37)
Canonical SPDI:: NC_000022.11:50506042:A:G
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.50506043A>G, NC_000022.10:g.50944472A>G, NG_021419.1:g.2828A>G, XM_006724426.4:c.601T>C, XM_006724426.3:c.601T>C, XM_006724426.2:c.601T>C, XM_006724426.1:c.601T>C, NM_033200.3:c.766T>C, NM_033200.2:c.766T>C, NM_001363816.2:c.691T>C, NM_001363816.1:c.691T>C, XM_047441592.1:c.766T>C, XP_006724489.1:p.Tyr201His, NP_149977.2:p.Tyr256His, NP_001350745.1:p.Tyr231His, XP_047297548.1:p.Tyr256His

Select item 14888933605.

rs1488893360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50506462 (GRCh38)
22:50944891 (GRCh37)
Canonical SPDI:: NC_000022.11:50506461:C:G,NC_000022.11:50506461:C:T
Gene:: NCAPH2 (Varview), LMF2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000026/4 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.50506462C>G, NC_000022.11:g.50506462C>T, NC_000022.10:g.50944891C>G, NC_000022.10:g.50944891C>T, NG_021419.1:g.3247C>G, NG_021419.1:g.3247C>T, XM_006724426.4:c.338G>C, XM_006724426.4:c.338G>A, XM_006724426.3:c.338G>C, XM_006724426.3:c.338G>A, XM_006724426.2:c.338G>C, XM_006724426.2:c.338G>A, XM_006724426.1:c.338G>C, XM_006724426.1:c.338G>A, NM_033200.3:c.418G>C, NM_033200.3:c.418G>A, NM_033200.2:c.418G>C, NM_033200.2:c.418G>A, NM_001363816.2:c.343G>C, NM_001363816.2:c.343G>A, NM_001363816.1:c.343G>C, NM_001363816.1:c.343G>A, XM_047441592.1:c.418G>C, XM_047441592.1:c.418G>A, XP_006724489.1:p.Gly113Ala, XP_006724489.1:p.Gly113Asp, NP_149977.2:p.Val140Leu, NP_149977.2:p.Val140Met, NP_001350745.1:p.Val115Leu, NP_001350745.1:p.Val115Met, XP_047297548.1:p.Val140Leu, XP_047297548.1:p.Val140Met

Select item 14888745376.

rs1488874537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:50505129 (GRCh38)
22:50943558 (GRCh37)
Canonical SPDI:: NC_000022.11:50505128:T:G
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_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_000022.11:g.50505129T>G, NC_000022.10:g.50943558T>G, NG_021419.1:g.1914T>G, XM_006724426.4:c.1017A>C, XM_006724426.3:c.1017A>C, XM_006724426.2:c.1017A>C, XM_006724426.1:c.1017A>C, NM_033200.3:c.1182A>C, NM_033200.2:c.1182A>C, NM_001363816.2:c.1107A>C, NM_001363816.1:c.1107A>C, XM_047441593.1:c.180A>C, XM_047441592.1:c.1165A>C, XP_047297548.1:p.Thr389Pro

Select item 14884794067.

rs1488479406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50506045 (GRCh38)
22:50944474 (GRCh37)
Canonical SPDI:: NC_000022.11:50506044:A:G
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50506045A>G, NC_000022.10:g.50944474A>G, NG_021419.1:g.2830A>G, XM_006724426.4:c.599T>C, XM_006724426.3:c.599T>C, XM_006724426.2:c.599T>C, XM_006724426.1:c.599T>C, NM_033200.3:c.764T>C, NM_033200.2:c.764T>C, NM_001363816.2:c.689T>C, NM_001363816.1:c.689T>C, XM_047441592.1:c.764T>C, XP_006724489.1:p.Phe200Ser, NP_149977.2:p.Phe255Ser, NP_001350745.1:p.Phe230Ser, XP_047297548.1:p.Phe255Ser

Select item 14883049258.

rs1488304925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:50506401 (GRCh38)
22:50944830 (GRCh37)
Canonical SPDI:: NC_000022.11:50506400:G:A,NC_000022.11:50506400:G:T
Gene:: NCAPH2 (Varview), LMF2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.50506401G>A, NC_000022.11:g.50506401G>T, NC_000022.10:g.50944830G>A, NC_000022.10:g.50944830G>T, NG_021419.1:g.3186G>A, NG_021419.1:g.3186G>T, XM_006724426.4:c.399C>T, XM_006724426.4:c.399C>A, XM_006724426.3:c.399C>T, XM_006724426.3:c.399C>A, XM_006724426.2:c.399C>T, XM_006724426.2:c.399C>A, XM_006724426.1:c.399C>T, XM_006724426.1:c.399C>A, NM_033200.3:c.479C>T, NM_033200.3:c.479C>A, NM_033200.2:c.479C>T, NM_033200.2:c.479C>A, NM_001363816.2:c.404C>T, NM_001363816.2:c.404C>A, NM_001363816.1:c.404C>T, NM_001363816.1:c.404C>A, XM_047441592.1:c.479C>T, XM_047441592.1:c.479C>A, NP_149977.2:p.Ala160Val, NP_149977.2:p.Ala160Asp, NP_001350745.1:p.Ala135Val, NP_001350745.1:p.Ala135Asp, XP_047297548.1:p.Ala160Val, XP_047297548.1:p.Ala160Asp

Select item 14882549019.

rs1488254901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:50506876 (GRCh38)
22:50945305 (GRCh37)
Canonical SPDI:: NC_000022.11:50506875:C:G
Gene:: NCAPH2 (Varview), LMF2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50506876C>G, NC_000022.10:g.50945305C>G, NG_021419.1:g.3661C>G, XM_006724426.4:c.174G>C, XM_006724426.3:c.174G>C, XM_006724426.2:c.174G>C, XM_006724426.1:c.174G>C, NM_033200.3:c.254G>C, NM_033200.2:c.254G>C, NM_001363816.2:c.179G>C, NM_001363816.1:c.179G>C, XM_047441592.1:c.254G>C, NP_149977.2:p.Gly85Ala, NP_001350745.1:p.Gly60Ala, XP_047297548.1:p.Gly85Ala

Select item 148732826310.

rs1487328263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:50503437 (GRCh38)
22:50941866 (GRCh37)
Canonical SPDI:: NC_000022.11:50503436:G:C
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50503437G>C, NC_000022.10:g.50941866G>C, NG_021419.1:g.222G>C, XM_006724426.4:c.1913C>G, XM_006724426.3:c.1913C>G, XM_006724426.2:c.1913C>G, XM_006724426.1:c.1913C>G, NM_033200.3:c.2078C>G, NM_033200.2:c.2078C>G, NM_001363816.2:c.2003C>G, NM_001363816.1:c.2003C>G, XM_047441593.1:c.1076C>G, XP_006724489.1:p.Pro638Arg, NP_149977.2:p.Pro693Arg, NP_001350745.1:p.Pro668Arg, XP_047297549.1:p.Pro359Arg

Select item 148524376911.

rs1485243769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50505480 (GRCh38)
22:50943909 (GRCh37)
Canonical SPDI:: NC_000022.11:50505479:C:T
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50505480C>T, NC_000022.10:g.50943909C>T, NG_021419.1:g.2265C>T, XM_006724426.4:c.809G>A, XM_006724426.3:c.809G>A, XM_006724426.2:c.809G>A, XM_006724426.1:c.809G>A, NM_033200.3:c.974G>A, NM_033200.2:c.974G>A, NM_001363816.2:c.899G>A, NM_001363816.1:c.899G>A, XM_047441593.1:c.-12G>A, XM_047441592.1:c.974G>A, XP_006724489.1:p.Gly270Glu, NP_149977.2:p.Gly325Glu, NP_001350745.1:p.Gly300Glu, XP_047297548.1:p.Gly325Glu

Select item 148524335112.

rs1485243351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:50505761 (GRCh38)
22:50944190 (GRCh37)
Canonical SPDI:: NC_000022.11:50505760:T:G
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50505761T>G, NC_000022.10:g.50944190T>G, NG_021419.1:g.2546T>G, XM_006724426.4:c.664A>C, XM_006724426.3:c.664A>C, XM_006724426.2:c.664A>C, XM_006724426.1:c.664A>C, NM_033200.3:c.829A>C, NM_033200.2:c.829A>C, NM_001363816.2:c.754A>C, NM_001363816.1:c.754A>C, XM_047441593.1:c.-157A>C, XM_047441592.1:c.829A>C, XP_006724489.1:p.Met222Leu, NP_149977.2:p.Met277Leu, NP_001350745.1:p.Met252Leu, XP_047297548.1:p.Met277Leu

Select item 148500435713.

rs1485004357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50503854 (GRCh38)
22:50942283 (GRCh37)
Canonical SPDI:: NC_000022.11:50503853:A:G
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50503854A>G, NC_000022.10:g.50942283A>G, NG_021419.1:g.639A>G, XM_006724426.4:c.1604T>C, XM_006724426.3:c.1604T>C, XM_006724426.2:c.1604T>C, XM_006724426.1:c.1604T>C, NM_033200.3:c.1769T>C, NM_033200.2:c.1769T>C, NM_001363816.2:c.1694T>C, NM_001363816.1:c.1694T>C, XM_047441593.1:c.767T>C, XP_006724489.1:p.Leu535Pro, NP_149977.2:p.Leu590Pro, NP_001350745.1:p.Leu565Pro, XP_047297549.1:p.Leu256Pro

Select item 148483218814.

rs1484832188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:50504683 (GRCh38)
22:50943112 (GRCh37)
Canonical SPDI:: NC_000022.11:50504682:G:T
Gene:: LMF2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.50504683G>T, NC_000022.10:g.50943112G>T, NG_021419.1:g.1468G>T, XM_006724426.4:c.1317C>A, XM_006724426.3:c.1317C>A, XM_006724426.2:c.1317C>A, XM_006724426.1:c.1317C>A, NM_033200.3:c.1482C>A, NM_033200.2:c.1482C>A, NM_001363816.2:c.1407C>A, NM_001363816.1:c.1407C>A, XM_047441593.1:c.480C>A

Select item 148257650315.

rs1482576503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:50505778 (GRCh38)
22:50944207 (GRCh37)
Canonical SPDI:: NC_000022.11:50505777:T:A
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50505778T>A, NC_000022.10:g.50944207T>A, NG_021419.1:g.2563T>A, XM_006724426.4:c.647A>T, XM_006724426.3:c.647A>T, XM_006724426.2:c.647A>T, XM_006724426.1:c.647A>T, NM_033200.3:c.812A>T, NM_033200.2:c.812A>T, NM_001363816.2:c.737A>T, NM_001363816.1:c.737A>T, XM_047441592.1:c.812A>T, XP_006724489.1:p.Tyr216Phe, NP_149977.2:p.Tyr271Phe, NP_001350745.1:p.Tyr246Phe, XP_047297548.1:p.Tyr271Phe

Select item 148054911116.

rs1480549111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:50503584 (GRCh38)
22:50942013 (GRCh37)
Canonical SPDI:: NC_000022.11:50503583:A:T
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/2 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.50503584A>T, NC_000022.10:g.50942013A>T, NG_021419.1:g.369A>T, XM_006724426.4:c.1766T>A, XM_006724426.3:c.1766T>A, XM_006724426.2:c.1766T>A, XM_006724426.1:c.1766T>A, NM_033200.3:c.1931T>A, NM_033200.2:c.1931T>A, NM_001363816.2:c.1856T>A, NM_001363816.1:c.1856T>A, XM_047441593.1:c.929T>A, XP_006724489.1:p.Met589Lys, NP_149977.2:p.Met644Lys, NP_001350745.1:p.Met619Lys, XP_047297549.1:p.Met310Lys

Select item 147820373517.

rs1478203735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50504661 (GRCh38)
22:50943090 (GRCh37)
Canonical SPDI:: NC_000022.11:50504660:G:A
Gene:: LMF2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000074/18 (GnomAD_exomes)
A=0.000157/22 (GnomAD)
A=0.000193/51 (TOPMED)
HGVS:: NC_000022.11:g.50504661G>A, NC_000022.10:g.50943090G>A, NG_021419.1:g.1446G>A, XM_006724426.4:c.1339C>T, XM_006724426.3:c.1339C>T, XM_006724426.2:c.1339C>T, XM_006724426.1:c.1339C>T, NM_033200.3:c.1504C>T, NM_033200.2:c.1504C>T, NM_001363816.2:c.1429C>T, NM_001363816.1:c.1429C>T, XM_047441593.1:c.502C>T, XP_006724489.1:p.Pro447Ser, NP_149977.2:p.Pro502Ser, NP_001350745.1:p.Pro477Ser, XP_047297549.1:p.Pro168Ser

Select item 147783374418.

rs1477833744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50506191 (GRCh38)
22:50944620 (GRCh37)
Canonical SPDI:: NC_000022.11:50506190:G:A
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50506191G>A, NC_000022.10:g.50944620G>A, NG_021419.1:g.2976G>A, XM_006724426.4:c.453C>T, XM_006724426.3:c.453C>T, XM_006724426.2:c.453C>T, XM_006724426.1:c.453C>T, NM_033200.3:c.618C>T, NM_033200.2:c.618C>T, NM_001363816.2:c.543C>T, NM_001363816.1:c.543C>T, XM_047441592.1:c.618C>T

Select item 147679920519.

rs1476799205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:50506147 (GRCh38)
22:50944576 (GRCh37)
Canonical SPDI:: NC_000022.11:50506146:G:A,NC_000022.11:50506146:G:T
Gene:: LMF2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.50506147G>A, NC_000022.11:g.50506147G>T, NC_000022.10:g.50944576G>A, NC_000022.10:g.50944576G>T, NG_021419.1:g.2932G>A, NG_021419.1:g.2932G>T, XM_006724426.4:c.497C>T, XM_006724426.4:c.497C>A, XM_006724426.3:c.497C>T, XM_006724426.3:c.497C>A, XM_006724426.2:c.497C>T, XM_006724426.2:c.497C>A, XM_006724426.1:c.497C>T, XM_006724426.1:c.497C>A, NM_033200.3:c.662C>T, NM_033200.3:c.662C>A, NM_033200.2:c.662C>T, NM_033200.2:c.662C>A, NM_001363816.2:c.587C>T, NM_001363816.2:c.587C>A, NM_001363816.1:c.587C>T, NM_001363816.1:c.587C>A, XM_047441592.1:c.662C>T, XM_047441592.1:c.662C>A, XP_006724489.1:p.Pro166Leu, XP_006724489.1:p.Pro166Gln, NP_149977.2:p.Pro221Leu, NP_149977.2:p.Pro221Gln, NP_001350745.1:p.Pro196Leu, NP_001350745.1:p.Pro196Gln, XP_047297548.1:p.Pro221Leu, XP_047297548.1:p.Pro221Gln

Select item 147665232220.

rs1476652322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:50506936 (GRCh38)
22:50945365 (GRCh37)
Canonical SPDI:: NC_000022.11:50506935:C:A
Gene:: NCAPH2 (Varview), LMF2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50506936C>A, NC_000022.10:g.50945365C>A, NG_021419.1:g.3721C>A, XM_006724426.4:c.114G>T, XM_006724426.3:c.114G>T, XM_006724426.2:c.114G>T, XM_006724426.1:c.114G>T, NM_033200.3:c.194G>T, NM_033200.2:c.194G>T, NM_001363816.2:c.119G>T, NM_001363816.1:c.119G>T, XM_047441592.1:c.194G>T, NP_149977.2:p.Trp65Leu, NP_001350745.1:p.Trp40Leu, XP_047297548.1:p.Trp65Leu

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