SNP Links for Protein (Select 4757738) - SNP

Links from Protein

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Select item 14846848161.

rs1484684816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:131250577 (GRCh38)
6:131571717 (GRCh37)
Canonical SPDI:: NC_000006.12:131250576:C:G
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_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_000006.12:g.131250577C>G, NC_000006.11:g.131571717C>G, NG_029123.1:g.119892C>G, NM_004842.4:c.10C>G, NM_004842.3:c.10C>G, NM_138633.3:c.10C>G, NM_138633.2:c.10C>G, NM_001387864.1:c.10C>G, NP_004833.1:p.Leu4Val, NP_619539.1:p.Leu4Val, NP_001374793.1:p.Leu4Val

Select item 14746111422.

rs1474611142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281556 (GRCh38)
6:131602696 (GRCh37)
Canonical SPDI:: NC_000006.12:131281555:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.131281556G>A, NC_000006.11:g.131602696G>A, NG_029123.1:g.150871G>A, NM_016377.4:c.877G>A, NM_016377.3:c.877G>A, NM_004842.4:c.76G>A, NM_004842.3:c.76G>A, NM_138633.3:c.145G>A, NM_138633.2:c.145G>A, NR_170717.1:n.1667G>A, NM_001387860.1:c.745G>A, NP_057461.2:p.Asp293Asn, NP_004833.1:p.Asp26Asn, NP_619539.1:p.Asp49Asn, NP_001374789.1:p.Asp249Asn

Select item 14721920323.

rs1472192032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281682 (GRCh38)
6:131602822 (GRCh37)
Canonical SPDI:: NC_000006.12:131281681:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.131281682G>A, NC_000006.11:g.131602822G>A, NG_029123.1:g.150997G>A, NM_016377.4:c.1003G>A, NM_016377.3:c.1003G>A, NM_004842.4:c.202G>A, NM_004842.3:c.202G>A, NM_138633.3:c.271G>A, NM_138633.2:c.271G>A, NR_170717.1:n.1793G>A, NM_001387860.1:c.871G>A, NP_057461.2:p.Ala335Thr, NP_004833.1:p.Ala68Thr, NP_619539.1:p.Ala91Thr, NP_001374789.1:p.Ala291Thr

Select item 14684097134.

rs1468409713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281562 (GRCh38)
6:131602702 (GRCh37)
Canonical SPDI:: NC_000006.12:131281561:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.131281562G>A, NC_000006.11:g.131602702G>A, NG_029123.1:g.150877G>A, NM_016377.4:c.883G>A, NM_016377.3:c.883G>A, NM_004842.4:c.82G>A, NM_004842.3:c.82G>A, NM_138633.3:c.151G>A, NM_138633.2:c.151G>A, NR_170717.1:n.1673G>A, NM_001387860.1:c.751G>A, NP_057461.2:p.Glu295Lys, NP_004833.1:p.Glu28Lys, NP_619539.1:p.Glu51Lys, NP_001374789.1:p.Glu251Lys

Select item 14439066675.

rs1443906667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:131281713 (GRCh38)
6:131602853 (GRCh37)
Canonical SPDI:: NC_000006.12:131281712:A:C
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_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_000006.12:g.131281713A>C, NC_000006.11:g.131602853A>C, NG_029123.1:g.151028A>C, NM_016377.4:c.1034A>C, NM_016377.3:c.1034A>C, NM_004842.4:c.233A>C, NM_004842.3:c.233A>C, NM_138633.3:c.302A>C, NM_138633.2:c.302A>C, NR_170717.1:n.1824A>C, NM_001387860.1:c.902A>C, NP_057461.2:p.Asn345Thr, NP_004833.1:p.Asn78Thr, NP_619539.1:p.Asn101Thr, NP_001374789.1:p.Asn301Thr

Select item 14340908066.

rs1434090806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:131250608 (GRCh38)
6:131571749 (GRCh37)
Canonical SPDI:: NC_000006.12:131250608:AAAAA:AAAAAA
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.131250613dup, NC_000006.11:g.131571753dup, NG_029123.1:g.119928dup, NM_004842.4:c.46dup, NM_004842.3:c.46dup, NM_138633.3:c.46dup, NM_138633.2:c.46dup, NM_001387864.1:c.46dup, NP_004833.1:p.Ile16fs, NP_619539.1:p.Ile16fs, NP_001374793.1:p.Ile16fs

Select item 14224626707.

rs1422462670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:131281724 (GRCh38)
6:131602864 (GRCh37)
Canonical SPDI:: NC_000006.12:131281723:T:C,NC_000006.12:131281723:T:G
Gene:: AKAP7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,stop_lost,intron_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.131281724T>C, NC_000006.12:g.131281724T>G, NC_000006.11:g.131602864T>C, NC_000006.11:g.131602864T>G, NG_029123.1:g.151039T>C, NG_029123.1:g.151039T>G, NM_016377.4:c.1045T>C, NM_016377.4:c.1045T>G, NM_016377.3:c.1045T>C, NM_016377.3:c.1045T>G, NM_004842.4:c.244T>C, NM_004842.4:c.244T>G, NM_004842.3:c.244T>C, NM_004842.3:c.244T>G, NM_138633.3:c.313T>C, NM_138633.3:c.313T>G, NM_138633.2:c.313T>C, NM_138633.2:c.313T>G, NR_170717.1:n.1835T>C, NR_170717.1:n.1835T>G, NM_001387860.1:c.913T>C, NM_001387860.1:c.913T>G, NP_057461.2:p.Ter349Arg, NP_057461.2:p.Ter349Gly, NP_004833.1:p.Ter82Arg, NP_004833.1:p.Ter82Gly, NP_619539.1:p.Ter105Arg, NP_619539.1:p.Ter105Gly, NP_001374789.1:p.Ter305Arg, NP_001374789.1:p.Ter305Gly

Select item 14199591938.

rs1419959193 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:131281643 (GRCh38)
6:131602783 (GRCh37)
Canonical SPDI:: NC_000006.12:131281642:AAAAA:AAAA
Gene:: AKAP7 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0.00007/1 (ALFA)
HGVS:: NC_000006.12:g.131281647del, NC_000006.11:g.131602787del, NG_029123.1:g.150962del, NM_016377.4:c.968del, NM_016377.3:c.968del, NM_004842.4:c.167del, NM_004842.3:c.167del, NM_138633.3:c.236del, NM_138633.2:c.236del, NR_170717.1:n.1758del, NM_001387860.1:c.836del, NP_057461.2:p.Asn323fs, NP_004833.1:p.Asn56fs, NP_619539.1:p.Asn79fs, NP_001374789.1:p.Asn279fs

Select item 13920845129.

rs1392084512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:131281596 (GRCh38)
6:131602736 (GRCh37)
Canonical SPDI:: NC_000006.12:131281595:A:G
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.131281596A>G, NC_000006.11:g.131602736A>G, NG_029123.1:g.150911A>G, NM_016377.4:c.917A>G, NM_016377.3:c.917A>G, NM_004842.4:c.116A>G, NM_004842.3:c.116A>G, NM_138633.3:c.185A>G, NM_138633.2:c.185A>G, NR_170717.1:n.1707A>G, NM_001387860.1:c.785A>G, NP_057461.2:p.Asn306Ser, NP_004833.1:p.Asn39Ser, NP_619539.1:p.Asn62Ser, NP_001374789.1:p.Asn262Ser

Select item 139097009410.

rs1390970094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:131281677 (GRCh38)
6:131602817 (GRCh37)
Canonical SPDI:: NC_000006.12:131281676:C:T
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.131281677C>T, NC_000006.11:g.131602817C>T, NG_029123.1:g.150992C>T, NM_016377.4:c.998C>T, NM_016377.3:c.998C>T, NM_004842.4:c.197C>T, NM_004842.3:c.197C>T, NM_138633.3:c.266C>T, NM_138633.2:c.266C>T, NR_170717.1:n.1788C>T, NM_001387860.1:c.866C>T, NP_057461.2:p.Thr333Ile, NP_004833.1:p.Thr66Ile, NP_619539.1:p.Thr89Ile, NP_001374789.1:p.Thr289Ile

Select item 135358696611.

rs1353586966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281598 (GRCh38)
6:131602738 (GRCh37)
Canonical SPDI:: NC_000006.12:131281597:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.131281598G>A, NC_000006.11:g.131602738G>A, NG_029123.1:g.150913G>A, NM_016377.4:c.919G>A, NM_016377.3:c.919G>A, NM_004842.4:c.118G>A, NM_004842.3:c.118G>A, NM_138633.3:c.187G>A, NM_138633.2:c.187G>A, NR_170717.1:n.1709G>A, NM_001387860.1:c.787G>A, NP_057461.2:p.Ala307Thr, NP_004833.1:p.Ala40Thr, NP_619539.1:p.Ala63Thr, NP_001374789.1:p.Ala263Thr

Select item 135050661012.

rs1350506610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:131281608 (GRCh38)
6:131602748 (GRCh37)
Canonical SPDI:: NC_000006.12:131281607:A:G
Gene:: AKAP7 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.131281608A>G, NC_000006.11:g.131602748A>G, NG_029123.1:g.150923A>G, NM_016377.4:c.929A>G, NM_016377.3:c.929A>G, NM_004842.4:c.128A>G, NM_004842.3:c.128A>G, NM_138633.3:c.197A>G, NM_138633.2:c.197A>G, NR_170717.1:n.1719A>G, NM_001387860.1:c.797A>G, NP_057461.2:p.Lys310Arg, NP_004833.1:p.Lys43Arg, NP_619539.1:p.Lys66Arg, NP_001374789.1:p.Lys266Arg

Select item 133814329413.

rs1338143294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:131281574 (GRCh38)
6:131602714 (GRCh37)
Canonical SPDI:: NC_000006.12:131281573:C:G
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.131281574C>G, NC_000006.11:g.131602714C>G, NG_029123.1:g.150889C>G, NM_016377.4:c.895C>G, NM_016377.3:c.895C>G, NM_004842.4:c.94C>G, NM_004842.3:c.94C>G, NM_138633.3:c.163C>G, NM_138633.2:c.163C>G, NR_170717.1:n.1685C>G, NM_001387860.1:c.763C>G, NP_057461.2:p.Leu299Val, NP_004833.1:p.Leu32Val, NP_619539.1:p.Leu55Val, NP_001374789.1:p.Leu255Val

Select item 133427081414.

rs1334270814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:131281599 (GRCh38)
6:131602739 (GRCh37)
Canonical SPDI:: NC_000006.12:131281598:C:T
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.131281599C>T, NC_000006.11:g.131602739C>T, NG_029123.1:g.150914C>T, NM_016377.4:c.920C>T, NM_016377.3:c.920C>T, NM_004842.4:c.119C>T, NM_004842.3:c.119C>T, NM_138633.3:c.188C>T, NM_138633.2:c.188C>T, NR_170717.1:n.1710C>T, NM_001387860.1:c.788C>T, NP_057461.2:p.Ala307Val, NP_004833.1:p.Ala40Val, NP_619539.1:p.Ala63Val, NP_001374789.1:p.Ala263Val

Select item 128835622115.

rs1288356221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:131281581 (GRCh38)
6:131602721 (GRCh37)
Canonical SPDI:: NC_000006.12:131281580:A:C
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.131281581A>C, NC_000006.11:g.131602721A>C, NG_029123.1:g.150896A>C, NM_016377.4:c.902A>C, NM_016377.3:c.902A>C, NM_004842.4:c.101A>C, NM_004842.3:c.101A>C, NM_138633.3:c.170A>C, NM_138633.2:c.170A>C, NR_170717.1:n.1692A>C, NM_001387860.1:c.770A>C, NP_057461.2:p.Lys301Thr, NP_004833.1:p.Lys34Thr, NP_619539.1:p.Lys57Thr, NP_001374789.1:p.Lys257Thr

Select item 127994661516.

rs1279946615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:131281544 (GRCh38)
6:131602684 (GRCh37)
Canonical SPDI:: NC_000006.12:131281543:G:C
Gene:: AKAP7 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.131281544G>C, NC_000006.11:g.131602684G>C, NG_029123.1:g.150859G>C, NM_016377.4:c.865G>C, NM_016377.3:c.865G>C, NM_004842.4:c.64G>C, NM_004842.3:c.64G>C, NM_138633.3:c.133G>C, NM_138633.2:c.133G>C, NR_170717.1:n.1655G>C, NM_001387860.1:c.733G>C, NP_057461.2:p.Gly289Arg, NP_004833.1:p.Gly22Arg, NP_619539.1:p.Gly45Arg, NP_001374789.1:p.Gly245Arg

Select item 125254737717.

rs1252547377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:131250587 (GRCh38)
6:131571727 (GRCh37)
Canonical SPDI:: NC_000006.12:131250586:T:G
Gene:: AKAP7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.131250587T>G, NC_000006.11:g.131571727T>G, NG_029123.1:g.119902T>G, NM_004842.4:c.20T>G, NM_004842.3:c.20T>G, NM_138633.3:c.20T>G, NM_138633.2:c.20T>G, NM_001387864.1:c.20T>G, NP_004833.1:p.Phe7Cys, NP_619539.1:p.Phe7Cys, NP_001374793.1:p.Phe7Cys

Select item 123028418518.

rs1230284185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281697 (GRCh38)
6:131602837 (GRCh37)
Canonical SPDI:: NC_000006.12:131281696:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.131281697G>A, NC_000006.11:g.131602837G>A, NG_029123.1:g.151012G>A, NM_016377.4:c.1018G>A, NM_016377.3:c.1018G>A, NM_004842.4:c.217G>A, NM_004842.3:c.217G>A, NM_138633.3:c.286G>A, NM_138633.2:c.286G>A, NR_170717.1:n.1808G>A, NM_001387860.1:c.886G>A, NP_057461.2:p.Gly340Ser, NP_004833.1:p.Gly73Ser, NP_619539.1:p.Gly96Ser, NP_001374789.1:p.Gly296Ser

Select item 122844799219.

rs1228447992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:131281706 (GRCh38)
6:131602846 (GRCh37)
Canonical SPDI:: NC_000006.12:131281705:A:G,NC_000006.12:131281705:A:T
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.131281706A>G, NC_000006.12:g.131281706A>T, NC_000006.11:g.131602846A>G, NC_000006.11:g.131602846A>T, NG_029123.1:g.151021A>G, NG_029123.1:g.151021A>T, NM_016377.4:c.1027A>G, NM_016377.4:c.1027A>T, NM_016377.3:c.1027A>G, NM_016377.3:c.1027A>T, NM_004842.4:c.226A>G, NM_004842.4:c.226A>T, NM_004842.3:c.226A>G, NM_004842.3:c.226A>T, NM_138633.3:c.295A>G, NM_138633.3:c.295A>T, NM_138633.2:c.295A>G, NM_138633.2:c.295A>T, NR_170717.1:n.1817A>G, NR_170717.1:n.1817A>T, NM_001387860.1:c.895A>G, NM_001387860.1:c.895A>T, NP_057461.2:p.Asn343Asp, NP_057461.2:p.Asn343Tyr, NP_004833.1:p.Asn76Asp, NP_004833.1:p.Asn76Tyr, NP_619539.1:p.Asn99Asp, NP_619539.1:p.Asn99Tyr, NP_001374789.1:p.Asn299Asp, NP_001374789.1:p.Asn299Tyr

Select item 120495755920.

rs1204957559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281541 (GRCh38)
6:131602681 (GRCh37)
Canonical SPDI:: NC_000006.12:131281540:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_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=0.000212/4 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.131281541G>A, NC_000006.11:g.131602681G>A, NG_029123.1:g.150856G>A, NM_016377.4:c.862G>A, NM_016377.3:c.862G>A, NM_004842.4:c.61G>A, NM_004842.3:c.61G>A, NM_138633.3:c.130G>A, NM_138633.2:c.130G>A, NR_170717.1:n.1652G>A, NM_001387860.1:c.730G>A, NP_057461.2:p.Gly288Arg, NP_004833.1:p.Gly21Arg, NP_619539.1:p.Gly44Arg, NP_001374789.1:p.Gly244Arg

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