SNP Links for Protein (Select 530363118) - SNP

Links from Protein

Items: 1 to 20 of 688

<< First< Prev

Page of 35

Next >Last >>

Select item 14906893491.

rs1490689349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109345816 (GRCh38)
1:109888438 (GRCh37)
Canonical SPDI:: NC_000001.11:109345815:C:T
Gene:: SORT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109345816C>T, NC_000001.10:g.109888438C>T, NG_028280.1:g.57126G>A, NM_002959.7:c.898G>A, NM_002959.6:c.898G>A, NM_002959.5:c.898G>A, NM_001205228.2:c.487G>A, NM_001205228.1:c.487G>A, XM_005271101.4:c.490G>A, XM_005271101.3:c.490G>A, XM_005271101.2:c.490G>A, XM_005271101.1:c.490G>A, XM_005271100.3:c.895G>A, XM_005271100.2:c.895G>A, XM_005271100.1:c.895G>A, NP_002950.3:p.Gly300Ser, NP_001192157.1:p.Gly163Ser, XP_005271158.1:p.Gly164Ser, XP_005271157.1:p.Gly299Ser

Select item 14883306032.

rs1488330603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:109336282 (GRCh38)
1:109878904 (GRCh37)
Canonical SPDI:: NC_000001.11:109336281:A:C
Gene:: SORT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109336282A>C, NC_000001.10:g.109878904A>C, NG_028280.1:g.66660T>G, NM_002959.7:c.1329T>G, NM_002959.6:c.1329T>G, NM_002959.5:c.1329T>G, NM_001205228.2:c.918T>G, NM_001205228.1:c.918T>G, XM_005271101.4:c.921T>G, XM_005271101.3:c.921T>G, XM_005271101.2:c.921T>G, XM_005271101.1:c.921T>G, XM_005271100.3:c.1326T>G, XM_005271100.2:c.1326T>G, XM_005271100.1:c.1326T>G

Select item 14861301863.

rs1486130186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:109314376 (GRCh38)
1:109856998 (GRCh37)
Canonical SPDI:: NC_000001.11:109314375:A:C
Gene:: SORT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109314376A>C, NC_000001.10:g.109856998A>C, NG_028280.1:g.88566T>G, NM_002959.7:c.2366T>G, NM_002959.6:c.2366T>G, NM_002959.5:c.2366T>G, NM_001205228.2:c.1955T>G, NM_001205228.1:c.1955T>G, XM_005271101.4:c.1958T>G, XM_005271101.3:c.1958T>G, XM_005271101.2:c.1958T>G, XM_005271101.1:c.1958T>G, XM_005271100.3:c.2363T>G, XM_005271100.2:c.2363T>G, XM_005271100.1:c.2363T>G, NP_002950.3:p.Val789Gly, NP_001192157.1:p.Val652Gly, XP_005271158.1:p.Val653Gly, XP_005271157.1:p.Val788Gly

Select item 14858603324.

rs1485860332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:109397658 (GRCh38)
1:109940280 (GRCh37)
Canonical SPDI:: NC_000001.11:109397657:C:A
Gene:: SORT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109397658C>A, NC_000001.10:g.109940280C>A, NG_028280.1:g.5284G>T, NM_002959.7:c.235G>T, NM_002959.6:c.235G>T, NM_002959.5:c.235G>T, XM_005271100.3:c.235G>T, XM_005271100.2:c.235G>T, XM_005271100.1:c.235G>T, NP_002950.3:p.Ala79Ser, XP_005271157.1:p.Ala79Ser

Select item 14844959015.

rs1484495901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109314724 (GRCh38)
1:109857346 (GRCh37)
Canonical SPDI:: NC_000001.11:109314723:C:T
Gene:: SORT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109314724C>T, NC_000001.10:g.109857346C>T, NG_028280.1:g.88218G>A, NM_002959.7:c.2305G>A, NM_002959.6:c.2305G>A, NM_002959.5:c.2305G>A, NM_001205228.2:c.1894G>A, NM_001205228.1:c.1894G>A, XM_005271101.4:c.1897G>A, XM_005271101.3:c.1897G>A, XM_005271101.2:c.1897G>A, XM_005271101.1:c.1897G>A, XM_005271100.3:c.2302G>A, XM_005271100.2:c.2302G>A, XM_005271100.1:c.2302G>A, NP_002950.3:p.Val769Ile, NP_001192157.1:p.Val632Ile, XP_005271158.1:p.Val633Ile, XP_005271157.1:p.Val768Ile

Select item 14811932896.

rs1481193289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109347487 (GRCh38)
1:109890109 (GRCh37)
Canonical SPDI:: NC_000001.11:109347486:G:A
Gene:: SORT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109347487G>A, NC_000001.10:g.109890109G>A, NG_028280.1:g.55455C>T, NM_002959.7:c.828C>T, NM_002959.6:c.828C>T, NM_002959.5:c.828C>T, NM_001205228.2:c.420C>T, NM_001205228.1:c.420C>T, XM_005271101.4:c.420C>T, XM_005271101.3:c.420C>T, XM_005271101.2:c.420C>T, XM_005271101.1:c.420C>T, XM_005271100.3:c.828C>T, XM_005271100.2:c.828C>T, XM_005271100.1:c.828C>T

Select item 14809632887.

rs1480963288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109327579 (GRCh38)
1:109870201 (GRCh37)
Canonical SPDI:: NC_000001.11:109327578:G:A
Gene:: SORT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.109327579G>A, NC_000001.10:g.109870201G>A, NG_028280.1:g.75363C>T, NM_002959.7:c.1394C>T, NM_002959.6:c.1394C>T, NM_002959.5:c.1394C>T, NM_001205228.2:c.983C>T, NM_001205228.1:c.983C>T, XM_005271101.4:c.986C>T, XM_005271101.3:c.986C>T, XM_005271101.2:c.986C>T, XM_005271101.1:c.986C>T, XM_005271100.3:c.1391C>T, XM_005271100.2:c.1391C>T, XM_005271100.1:c.1391C>T, NP_002950.3:p.Ser465Phe, NP_001192157.1:p.Ser328Phe, XP_005271158.1:p.Ser329Phe, XP_005271157.1:p.Ser464Phe

Select item 14788897278.

rs1478889727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109327025 (GRCh38)
1:109869647 (GRCh37)
Canonical SPDI:: NC_000001.11:109327024:A:G
Gene:: SORT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109327025A>G, NC_000001.10:g.109869647A>G, NG_028280.1:g.75917T>C, NM_002959.7:c.1610T>C, NM_002959.6:c.1610T>C, NM_002959.5:c.1610T>C, NM_001205228.2:c.1199T>C, NM_001205228.1:c.1199T>C, XM_005271101.4:c.1202T>C, XM_005271101.3:c.1202T>C, XM_005271101.2:c.1202T>C, XM_005271101.1:c.1202T>C, XM_005271100.3:c.1607T>C, XM_005271100.2:c.1607T>C, XM_005271100.1:c.1607T>C, NP_002950.3:p.Ile537Thr, NP_001192157.1:p.Ile400Thr, XP_005271158.1:p.Ile401Thr, XP_005271157.1:p.Ile536Thr

Select item 14787058759.

rs1478705875 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCGGCGCAGCGGGCGGC>-,AGCGGCGCAGCGGGCGGCAGCGGCGCAGCGGGCGGC [Show Flanks]
Chromosome:: 1:109397753 (GRCh38)
1:109940375 (GRCh37)
Canonical SPDI:: NC_000001.11:109397747:GCGGCAGCGGCGCAGCGGGCGGC:GCGGC,NC_000001.11:109397747:GCGGCAGCGGCGCAGCGGGCGGC:GCGGCAGCGGCGCAGCGGGCGGCAGCGGCGCAGCGGGCGGC
Gene:: SORT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_insertion,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCGGCAGCGGCGCAGCGGGCGGCAGCGGCGCAGCGGGCGGC=0./0 (ALFA)
GCGGCAGCGGCGCAGCGG=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109397753_109397770del, NC_000001.11:g.109397753_109397770dup, NC_000001.10:g.109940375_109940392del, NC_000001.10:g.109940375_109940392dup, NG_028280.1:g.5177_5194del, NG_028280.1:g.5177_5194dup, NM_002959.7:c.128_145del, NM_002959.7:c.128_145dup, NM_002959.6:c.128_145del, NM_002959.6:c.128_145dup, NM_002959.5:c.128_145del, NM_002959.5:c.128_145dup, XM_005271100.3:c.128_145del, XM_005271100.3:c.128_145dup, XM_005271100.2:c.128_145del, XM_005271100.2:c.128_145dup, XM_005271100.1:c.128_145del, XM_005271100.1:c.128_145dup, NP_002950.3:p.Pro43_Pro48del, NP_002950.3:p.Pro43_Pro48dup, XP_005271157.1:p.Pro43_Pro48del, XP_005271157.1:p.Pro43_Pro48dup

Select item 147785865710.

rs1477858657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109323075 (GRCh38)
1:109865697 (GRCh37)
Canonical SPDI:: NC_000001.11:109323074:A:G
Gene:: SORT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109323075A>G, NC_000001.10:g.109865697A>G, NG_028280.1:g.79867T>C, NM_002959.7:c.1881T>C, NM_002959.6:c.1881T>C, NM_002959.5:c.1881T>C, NM_001205228.2:c.1470T>C, NM_001205228.1:c.1470T>C, XM_005271101.4:c.1473T>C, XM_005271101.3:c.1473T>C, XM_005271101.2:c.1473T>C, XM_005271101.1:c.1473T>C, XM_005271100.3:c.1878T>C, XM_005271100.2:c.1878T>C, XM_005271100.1:c.1878T>C

Select item 147774983211.

rs1477749832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109340793 (GRCh38)
1:109883415 (GRCh37)
Canonical SPDI:: NC_000001.11:109340792:C:T
Gene:: SORT1 (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)
T=0.000014/2 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.109340793C>T, NC_000001.10:g.109883415C>T, NG_028280.1:g.62149G>A, NM_002959.7:c.1195G>A, NM_002959.6:c.1195G>A, NM_002959.5:c.1195G>A, NM_001205228.2:c.784G>A, NM_001205228.1:c.784G>A, XM_005271101.4:c.787G>A, XM_005271101.3:c.787G>A, XM_005271101.2:c.787G>A, XM_005271101.1:c.787G>A, XM_005271100.3:c.1192G>A, XM_005271100.2:c.1192G>A, XM_005271100.1:c.1192G>A, NP_002950.3:p.Gly399Ser, NP_001192157.1:p.Gly262Ser, XP_005271158.1:p.Gly263Ser, XP_005271157.1:p.Gly398Ser

Select item 147734063312.

rs1477340633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109316912 (GRCh38)
1:109859534 (GRCh37)
Canonical SPDI:: NC_000001.11:109316911:C:T
Gene:: SORT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109316912C>T, NC_000001.10:g.109859534C>T, NG_028280.1:g.86030G>A, NM_002959.7:c.2188G>A, NM_002959.6:c.2188G>A, NM_002959.5:c.2188G>A, NM_001205228.2:c.1777G>A, NM_001205228.1:c.1777G>A, XM_005271101.4:c.1780G>A, XM_005271101.3:c.1780G>A, XM_005271101.2:c.1780G>A, XM_005271101.1:c.1780G>A, XM_005271100.3:c.2185G>A, XM_005271100.2:c.2185G>A, XM_005271100.1:c.2185G>A, NP_002950.3:p.Val730Ile, NP_001192157.1:p.Val593Ile, XP_005271158.1:p.Val594Ile, XP_005271157.1:p.Val729Ile

Select item 147586636413.

rs1475866364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109317891 (GRCh38)
1:109860513 (GRCh37)
Canonical SPDI:: NC_000001.11:109317890:A:G
Gene:: SORT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109317891A>G, NC_000001.10:g.109860513A>G, NG_028280.1:g.85051T>C, NM_002959.7:c.2103T>C, NM_002959.6:c.2103T>C, NM_002959.5:c.2103T>C, NM_001205228.2:c.1692T>C, NM_001205228.1:c.1692T>C, XM_005271101.4:c.1695T>C, XM_005271101.3:c.1695T>C, XM_005271101.2:c.1695T>C, XM_005271101.1:c.1695T>C, XM_005271100.3:c.2100T>C, XM_005271100.2:c.2100T>C, XM_005271100.1:c.2100T>C

Select item 147579216414.

rs1475792164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:109354402 (GRCh38)
1:109897024 (GRCh37)
Canonical SPDI:: NC_000001.11:109354401:G:T
Gene:: SORT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109354402G>T, NC_000001.10:g.109897024G>T, NG_028280.1:g.48540C>A, NM_002959.7:c.673C>A, NM_002959.6:c.673C>A, NM_002959.5:c.673C>A, NM_001205228.2:c.265C>A, NM_001205228.1:c.265C>A, XM_005271101.4:c.265C>A, XM_005271101.3:c.265C>A, XM_005271101.2:c.265C>A, XM_005271101.1:c.265C>A, XM_005271100.3:c.673C>A, XM_005271100.2:c.673C>A, XM_005271100.1:c.673C>A, NP_002950.3:p.Gln225Lys, NP_001192157.1:p.Gln89Lys, XP_005271158.1:p.Gln89Lys, XP_005271157.1:p.Gln225Lys

Select item 147227011015.

rs1472270110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:109397787 (GRCh38)
1:109940409 (GRCh37)
Canonical SPDI:: NC_000001.11:109397786:G:A,NC_000001.11:109397786:G:T
Gene:: SORT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109397787G>A, NC_000001.11:g.109397787G>T, NC_000001.10:g.109940409G>A, NC_000001.10:g.109940409G>T, NG_028280.1:g.5155C>T, NG_028280.1:g.5155C>A, NM_002959.7:c.106C>T, NM_002959.7:c.106C>A, NM_002959.6:c.106C>T, NM_002959.6:c.106C>A, NM_002959.5:c.106C>T, NM_002959.5:c.106C>A, XM_005271100.3:c.106C>T, XM_005271100.3:c.106C>A, XM_005271100.2:c.106C>T, XM_005271100.2:c.106C>A, XM_005271100.1:c.106C>T, XM_005271100.1:c.106C>A, NP_002950.3:p.Arg36Trp, XP_005271157.1:p.Arg36Trp

Select item 147156990816.

rs1471569908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109314681 (GRCh38)
1:109857303 (GRCh37)
Canonical SPDI:: NC_000001.11:109314680:C:T
Gene:: SORT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109314681C>T, NC_000001.10:g.109857303C>T, NG_028280.1:g.88261G>A, NM_002959.7:c.2348G>A, NM_002959.6:c.2348G>A, NM_002959.5:c.2348G>A, NM_001205228.2:c.1937G>A, NM_001205228.1:c.1937G>A, XM_005271101.4:c.1940G>A, XM_005271101.3:c.1940G>A, XM_005271101.2:c.1940G>A, XM_005271101.1:c.1940G>A, XM_005271100.3:c.2345G>A, XM_005271100.2:c.2345G>A, XM_005271100.1:c.2345G>A, NP_002950.3:p.Cys783Tyr, NP_001192157.1:p.Cys646Tyr, XP_005271158.1:p.Cys647Tyr, XP_005271157.1:p.Cys782Tyr

Select item 147014936717.

rs1470149367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109325068 (GRCh38)
1:109867690 (GRCh37)
Canonical SPDI:: NC_000001.11:109325067:T:C
Gene:: SORT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.109325068T>C, NC_000001.10:g.109867690T>C, NG_028280.1:g.77874A>G, NM_002959.7:c.1665A>G, NM_002959.6:c.1665A>G, NM_002959.5:c.1665A>G, NM_001205228.2:c.1254A>G, NM_001205228.1:c.1254A>G, XM_005271101.4:c.1257A>G, XM_005271101.3:c.1257A>G, XM_005271101.2:c.1257A>G, XM_005271101.1:c.1257A>G, XM_005271100.3:c.1662A>G, XM_005271100.2:c.1662A>G, XM_005271100.1:c.1662A>G

Select item 147009470518.

rs1470094705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:109325067 (GRCh38)
1:109867689 (GRCh37)
Canonical SPDI:: NC_000001.11:109325066:A:T
Gene:: SORT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109325067A>T, NC_000001.10:g.109867689A>T, NG_028280.1:g.77875T>A, NM_002959.7:c.1666T>A, NM_002959.6:c.1666T>A, NM_002959.5:c.1666T>A, NM_001205228.2:c.1255T>A, NM_001205228.1:c.1255T>A, XM_005271101.4:c.1258T>A, XM_005271101.3:c.1258T>A, XM_005271101.2:c.1258T>A, XM_005271101.1:c.1258T>A, XM_005271100.3:c.1663T>A, XM_005271100.2:c.1663T>A, XM_005271100.1:c.1663T>A, NP_002950.3:p.Cys556Ser, NP_001192157.1:p.Cys419Ser, XP_005271158.1:p.Cys420Ser, XP_005271157.1:p.Cys555Ser

Select item 147007202319.

rs1470072023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109336330 (GRCh38)
1:109878952 (GRCh37)
Canonical SPDI:: NC_000001.11:109336329:G:C
Gene:: SORT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109336330G>C, NC_000001.10:g.109878952G>C, NG_028280.1:g.66612C>G, NM_002959.7:c.1281C>G, NM_002959.6:c.1281C>G, NM_002959.5:c.1281C>G, NM_001205228.2:c.870C>G, NM_001205228.1:c.870C>G, XM_005271101.4:c.873C>G, XM_005271101.3:c.873C>G, XM_005271101.2:c.873C>G, XM_005271101.1:c.873C>G, XM_005271100.3:c.1278C>G, XM_005271100.2:c.1278C>G, XM_005271100.1:c.1278C>G

Select item 146976558120.

rs1469765581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109345877 (GRCh38)
1:109888499 (GRCh37)
Canonical SPDI:: NC_000001.11:109345876:A:G
Gene:: SORT1 (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_000001.11:g.109345877A>G, NC_000001.10:g.109888499A>G, NG_028280.1:g.57065T>C, NM_002959.7:c.837T>C, NM_002959.6:c.837T>C, NM_002959.5:c.837T>C, NM_001205228.2:c.426T>C, NM_001205228.1:c.426T>C, XM_005271101.4:c.429T>C, XM_005271101.3:c.429T>C, XM_005271101.2:c.429T>C, XM_005271101.1:c.429T>C, XM_005271100.3:c.834T>C, XM_005271100.2:c.834T>C, XM_005271100.1:c.834T>C

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 688

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity