SNP Links for Protein (Select 34013528) - SNP

Links from Protein

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Select item 14908844011.

rs1490884401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:63962643 (GRCh38)
20:62593996 (GRCh37)
Canonical SPDI:: NC_000020.11:63962642:C:A,NC_000020.11:63962642:C:T
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63962643C>A, NC_000020.11:g.63962643C>T, NC_000020.10:g.62593996C>A, NC_000020.10:g.62593996C>T, XM_011528930.3:c.2149G>T, XM_011528930.3:c.2149G>A, XM_011528930.2:c.2149G>T, XM_011528930.2:c.2149G>A, XM_011528930.1:c.2149G>T, XM_011528930.1:c.2149G>A, NM_020713.3:c.2107G>T, NM_020713.3:c.2107G>A, NM_020713.2:c.2107G>T, NM_020713.2:c.2107G>A, XM_047440326.1:c.2332G>T, XM_047440326.1:c.2332G>A, XM_047440327.1:c.2107G>T, XM_047440327.1:c.2107G>A, XM_047440329.1:c.1114G>T, XM_047440329.1:c.1114G>A, XM_047440328.1:c.1117G>T, XM_047440328.1:c.1117G>A, XP_011527232.1:p.Ala717Ser, XP_011527232.1:p.Ala717Thr, NP_065764.1:p.Ala703Ser, NP_065764.1:p.Ala703Thr, XP_047296282.1:p.Ala778Ser, XP_047296282.1:p.Ala778Thr, XP_047296283.1:p.Ala703Ser, XP_047296283.1:p.Ala703Thr, XP_047296285.1:p.Ala372Ser, XP_047296285.1:p.Ala372Thr, XP_047296284.1:p.Ala373Ser, XP_047296284.1:p.Ala373Thr

Select item 14881570302.

rs1488157030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63959966 (GRCh38)
20:62591319 (GRCh37)
Canonical SPDI:: NC_000020.11:63959965:C:T
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000020.11:g.63959966C>T, NC_000020.10:g.62591319C>T, XM_011528930.3:c.2544G>A, XM_011528930.2:c.2544G>A, XM_011528930.1:c.2544G>A, NM_020713.3:c.2601G>A, NM_020713.2:c.2601G>A, XM_047440326.1:c.2826G>A, XM_047440327.1:c.2601G>A, XM_047440329.1:c.1608G>A, XM_047440328.1:c.1611G>A, XP_011527232.1:p.Trp848Ter, NP_065764.1:p.Trp867Ter, XP_047296282.1:p.Trp942Ter, XP_047296283.1:p.Trp867Ter, XP_047296285.1:p.Trp536Ter, XP_047296284.1:p.Trp537Ter

Select item 14872880033.

rs1487288003 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 20:63966609 (GRCh38)
20:62597963 (GRCh37)
Canonical SPDI:: NC_000020.11:63966609:TG:TGTG
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: TG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63966610_63966611dup, NC_000020.10:g.62597963_62597964dup, XM_011528930.3:c.606_607dup, XM_011528930.2:c.606_607dup, XM_011528930.1:c.606_607dup, NM_020713.3:c.564_565dup, NM_020713.2:c.564_565dup, XM_011528933.3:c.606_607dup, XM_011528933.2:c.606_607dup, XM_011528933.1:c.606_607dup, XM_047440326.1:c.789_790dup, XM_047440327.1:c.564_565dup, XP_011527232.1:p.Ser203fs, NP_065764.1:p.Ser189fs, XP_011527235.1:p.Ser203fs, XP_047296282.1:p.Ser264fs, XP_047296283.1:p.Ser189fs

Select item 14859568004.

rs1485956800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63964620 (GRCh38)
20:62595973 (GRCh37)
Canonical SPDI:: NC_000020.11:63964619:G:A
Gene:: ZNF512B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63964620G>A, NC_000020.10:g.62595973G>A, XM_011528930.3:c.1173C>T, XM_011528930.2:c.1173C>T, XM_011528930.1:c.1173C>T, NM_020713.3:c.1131C>T, NM_020713.2:c.1131C>T, XM_011528933.3:c.1173C>T, XM_011528933.2:c.1173C>T, XM_011528933.1:c.1173C>T, XM_047440326.1:c.1356C>T, XM_047440327.1:c.1131C>T, XM_047440329.1:c.138C>T, XM_047440328.1:c.141C>T

Select item 14841322495.

rs1484132249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63967004 (GRCh38)
20:62598357 (GRCh37)
Canonical SPDI:: NC_000020.11:63967003:G:A
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.63967004G>A, NC_000020.10:g.62598357G>A, XM_011528930.3:c.307C>T, XM_011528930.2:c.307C>T, XM_011528930.1:c.307C>T, NM_020713.3:c.265C>T, NM_020713.2:c.265C>T, XM_011528933.3:c.307C>T, XM_011528933.2:c.307C>T, XM_011528933.1:c.307C>T, XM_047440326.1:c.490C>T, XM_047440327.1:c.265C>T, XP_011527232.1:p.Leu103Phe, NP_065764.1:p.Leu89Phe, XP_011527235.1:p.Leu103Phe, XP_047296282.1:p.Leu164Phe, XP_047296283.1:p.Leu89Phe

Select item 14837562176.

rs1483756217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63963909 (GRCh38)
20:62595262 (GRCh37)
Canonical SPDI:: NC_000020.11:63963908:G:A
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.63963909G>A, NC_000020.10:g.62595262G>A, XM_011528930.3:c.1527C>T, XM_011528930.2:c.1527C>T, XM_011528930.1:c.1527C>T, NM_020713.3:c.1485C>T, NM_020713.2:c.1485C>T, XM_047440326.1:c.1710C>T, XM_047440327.1:c.1485C>T, XM_047440329.1:c.492C>T, XM_047440328.1:c.495C>T

Select item 14834655617.

rs1483465561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63961372 (GRCh38)
20:62592725 (GRCh37)
Canonical SPDI:: NC_000020.11:63961371:C:T
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63961372C>T, NC_000020.10:g.62592725C>T, NM_020713.3:c.2364G>A, NM_020713.2:c.2364G>A, XM_047440326.1:c.2589G>A, XM_047440327.1:c.2364G>A, XM_047440329.1:c.1371G>A, XM_047440328.1:c.1374G>A

Select item 14813495458.

rs1481349545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63963230 (GRCh38)
20:62594583 (GRCh37)
Canonical SPDI:: NC_000020.11:63963229:G:A
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63963230G>A, NC_000020.10:g.62594583G>A, XM_011528930.3:c.1875C>T, XM_011528930.2:c.1875C>T, XM_011528930.1:c.1875C>T, NM_020713.3:c.1833C>T, NM_020713.2:c.1833C>T, XM_047440326.1:c.2058C>T, XM_047440327.1:c.1833C>T, XM_047440329.1:c.840C>T, XM_047440328.1:c.843C>T

Select item 14782071739.

rs1478207173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63963357 (GRCh38)
20:62594710 (GRCh37)
Canonical SPDI:: NC_000020.11:63963356:C:T
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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_000020.11:g.63963357C>T, NC_000020.10:g.62594710C>T, XM_011528930.3:c.1824G>A, XM_011528930.2:c.1824G>A, XM_011528930.1:c.1824G>A, NM_020713.3:c.1782G>A, NM_020713.2:c.1782G>A, XM_047440326.1:c.2007G>A, XM_047440327.1:c.1782G>A, XM_047440329.1:c.789G>A, XM_047440328.1:c.792G>A

Select item 147798153310.

rs1477981533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:63964375 (GRCh38)
20:62595728 (GRCh37)
Canonical SPDI:: NC_000020.11:63964374:T:G
Gene:: ZNF512B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63964375T>G, NC_000020.10:g.62595728T>G, XM_011528930.3:c.1320A>C, XM_011528930.2:c.1320A>C, XM_011528930.1:c.1320A>C, NM_020713.3:c.1278A>C, NM_020713.2:c.1278A>C, XM_011528933.3:c.1324A>C, XM_011528933.2:c.1324A>C, XM_011528933.1:c.1324A>C, XM_047440326.1:c.1503A>C, XM_047440327.1:c.1278A>C, XM_047440329.1:c.285A>C, XM_047440328.1:c.288A>C, XP_011527235.1:p.Thr442Pro

Select item 147679000211.

rs1476790002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63966543 (GRCh38)
20:62597896 (GRCh37)
Canonical SPDI:: NC_000020.11:63966542:C:T
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63966543C>T, NC_000020.10:g.62597896C>T, XM_011528930.3:c.674G>A, XM_011528930.2:c.674G>A, XM_011528930.1:c.674G>A, NM_020713.3:c.632G>A, NM_020713.2:c.632G>A, XM_011528933.3:c.674G>A, XM_011528933.2:c.674G>A, XM_011528933.1:c.674G>A, XM_047440326.1:c.857G>A, XM_047440327.1:c.632G>A, XP_011527232.1:p.Gly225Asp, NP_065764.1:p.Gly211Asp, XP_011527235.1:p.Gly225Asp, XP_047296282.1:p.Gly286Asp, XP_047296283.1:p.Gly211Asp

Select item 147648886212.

rs1476488862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63966173 (GRCh38)
20:62597526 (GRCh37)
Canonical SPDI:: NC_000020.11:63966172:A:G
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63966173A>G, NC_000020.10:g.62597526A>G, XM_011528930.3:c.1044T>C, XM_011528930.2:c.1044T>C, XM_011528930.1:c.1044T>C, NM_020713.3:c.1002T>C, NM_020713.2:c.1002T>C, XM_011528933.3:c.1044T>C, XM_011528933.2:c.1044T>C, XM_011528933.1:c.1044T>C, XM_047440326.1:c.1227T>C, XM_047440327.1:c.1002T>C

Select item 147380652913.

rs1473806529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:63960042 (GRCh38)
20:62591395 (GRCh37)
Canonical SPDI:: NC_000020.11:63960041:T:G
Gene:: ZNF512B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63960042T>G, NC_000020.10:g.62591395T>G, XM_011528930.3:c.2468A>C, XM_011528930.2:c.2468A>C, XM_011528930.1:c.2468A>C, NM_020713.3:c.2525A>C, NM_020713.2:c.2525A>C, XM_047440326.1:c.2750A>C, XM_047440327.1:c.2525A>C, XM_047440329.1:c.1532A>C, XM_047440328.1:c.1535A>C, XP_011527232.1:p.Lys823Thr, NP_065764.1:p.Lys842Thr, XP_047296282.1:p.Lys917Thr, XP_047296283.1:p.Lys842Thr, XP_047296285.1:p.Lys511Thr, XP_047296284.1:p.Lys512Thr

Select item 147174469114.

rs1471744691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:63964525 (GRCh38)
20:62595878 (GRCh37)
Canonical SPDI:: NC_000020.11:63964524:G:A,NC_000020.11:63964524:G:C
Gene:: ZNF512B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.63964525G>A, NC_000020.11:g.63964525G>C, NC_000020.10:g.62595878G>A, NC_000020.10:g.62595878G>C, XM_011528930.3:c.1268C>T, XM_011528930.3:c.1268C>G, XM_011528930.2:c.1268C>T, XM_011528930.2:c.1268C>G, XM_011528930.1:c.1268C>T, XM_011528930.1:c.1268C>G, NM_020713.3:c.1226C>T, NM_020713.3:c.1226C>G, NM_020713.2:c.1226C>T, NM_020713.2:c.1226C>G, XM_011528933.3:c.1268C>T, XM_011528933.3:c.1268C>G, XM_011528933.2:c.1268C>T, XM_011528933.2:c.1268C>G, XM_011528933.1:c.1268C>T, XM_011528933.1:c.1268C>G, XM_047440326.1:c.1451C>T, XM_047440326.1:c.1451C>G, XM_047440327.1:c.1226C>T, XM_047440327.1:c.1226C>G, XM_047440329.1:c.233C>T, XM_047440329.1:c.233C>G, XM_047440328.1:c.236C>T, XM_047440328.1:c.236C>G, XP_011527232.1:p.Ser423Phe, XP_011527232.1:p.Ser423Cys, NP_065764.1:p.Ser409Phe, NP_065764.1:p.Ser409Cys, XP_011527235.1:p.Ser423Phe, XP_011527235.1:p.Ser423Cys, XP_047296282.1:p.Ser484Phe, XP_047296282.1:p.Ser484Cys, XP_047296283.1:p.Ser409Phe, XP_047296283.1:p.Ser409Cys, XP_047296285.1:p.Ser78Phe, XP_047296285.1:p.Ser78Cys, XP_047296284.1:p.Ser79Phe, XP_047296284.1:p.Ser79Cys

Select item 147173812815.

rs1471738128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:63962720 (GRCh38)
20:62594073 (GRCh37)
Canonical SPDI:: NC_000020.11:63962719:G:A,NC_000020.11:63962719:G:T
Gene:: ZNF512B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63962720G>A, NC_000020.11:g.63962720G>T, NC_000020.10:g.62594073G>A, NC_000020.10:g.62594073G>T, XM_011528930.3:c.2072C>T, XM_011528930.3:c.2072C>A, XM_011528930.2:c.2072C>T, XM_011528930.2:c.2072C>A, XM_011528930.1:c.2072C>T, XM_011528930.1:c.2072C>A, NM_020713.3:c.2030C>T, NM_020713.3:c.2030C>A, NM_020713.2:c.2030C>T, NM_020713.2:c.2030C>A, XM_047440326.1:c.2255C>T, XM_047440326.1:c.2255C>A, XM_047440327.1:c.2030C>T, XM_047440327.1:c.2030C>A, XM_047440329.1:c.1037C>T, XM_047440329.1:c.1037C>A, XM_047440328.1:c.1040C>T, XM_047440328.1:c.1040C>A, XP_011527232.1:p.Thr691Ile, XP_011527232.1:p.Thr691Asn, NP_065764.1:p.Thr677Ile, NP_065764.1:p.Thr677Asn, XP_047296282.1:p.Thr752Ile, XP_047296282.1:p.Thr752Asn, XP_047296283.1:p.Thr677Ile, XP_047296283.1:p.Thr677Asn, XP_047296285.1:p.Thr346Ile, XP_047296285.1:p.Thr346Asn, XP_047296284.1:p.Thr347Ile, XP_047296284.1:p.Thr347Asn

Select item 147159688716.

rs1471596887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63966169 (GRCh38)
20:62597522 (GRCh37)
Canonical SPDI:: NC_000020.11:63966168:C:T
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63966169C>T, NC_000020.10:g.62597522C>T, XM_011528930.3:c.1048G>A, XM_011528930.2:c.1048G>A, XM_011528930.1:c.1048G>A, NM_020713.3:c.1006G>A, NM_020713.2:c.1006G>A, XM_011528933.3:c.1048G>A, XM_011528933.2:c.1048G>A, XM_011528933.1:c.1048G>A, XM_047440326.1:c.1231G>A, XM_047440327.1:c.1006G>A, XP_011527232.1:p.Ala350Thr, NP_065764.1:p.Ala336Thr, XP_011527235.1:p.Ala350Thr, XP_047296282.1:p.Ala411Thr, XP_047296283.1:p.Ala336Thr

Select item 147147963817.

rs1471479638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63966279 (GRCh38)
20:62597632 (GRCh37)
Canonical SPDI:: NC_000020.11:63966278:G:A
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.63966279G>A, NC_000020.10:g.62597632G>A, XM_011528930.3:c.938C>T, XM_011528930.2:c.938C>T, XM_011528930.1:c.938C>T, NM_020713.3:c.896C>T, NM_020713.2:c.896C>T, XM_011528933.3:c.938C>T, XM_011528933.2:c.938C>T, XM_011528933.1:c.938C>T, XM_047440326.1:c.1121C>T, XM_047440327.1:c.896C>T, XP_011527232.1:p.Pro313Leu, NP_065764.1:p.Pro299Leu, XP_011527235.1:p.Pro313Leu, XP_047296282.1:p.Pro374Leu, XP_047296283.1:p.Pro299Leu

Select item 147092807018.

rs1470928070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63962297 (GRCh38)
20:62593650 (GRCh37)
Canonical SPDI:: NC_000020.11:63962296:T:C
Gene:: ZNF512B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.63962297T>C, NC_000020.10:g.62593650T>C, XM_011528930.3:c.2283A>G, XM_011528930.2:c.2283A>G, XM_011528930.1:c.2283A>G, NM_020713.3:c.2241A>G, NM_020713.2:c.2241A>G, XM_047440326.1:c.2466A>G, XM_047440327.1:c.2241A>G, XM_047440329.1:c.1248A>G, XM_047440328.1:c.1251A>G

Select item 146977722219.

rs1469777222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63963623 (GRCh38)
20:62594976 (GRCh37)
Canonical SPDI:: NC_000020.11:63963622:C:G
Gene:: ZNF512B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63963623C>G, NC_000020.10:g.62594976C>G, XM_011528930.3:c.1735G>C, XM_011528930.2:c.1735G>C, XM_011528930.1:c.1735G>C, NM_020713.3:c.1693G>C, NM_020713.2:c.1693G>C, XM_047440326.1:c.1918G>C, XM_047440327.1:c.1693G>C, XM_047440329.1:c.700G>C, XM_047440328.1:c.703G>C, XP_011527232.1:p.Ala579Pro, NP_065764.1:p.Ala565Pro, XP_047296282.1:p.Ala640Pro, XP_047296283.1:p.Ala565Pro, XP_047296285.1:p.Ala234Pro, XP_047296284.1:p.Ala235Pro

Select item 146882162420.

rs1468821624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63962705 (GRCh38)
20:62594058 (GRCh37)
Canonical SPDI:: NC_000020.11:63962704:A:G
Gene:: ZNF512B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63962705A>G, NC_000020.10:g.62594058A>G, XM_011528930.3:c.2087T>C, XM_011528930.2:c.2087T>C, XM_011528930.1:c.2087T>C, NM_020713.3:c.2045T>C, NM_020713.2:c.2045T>C, XM_047440326.1:c.2270T>C, XM_047440327.1:c.2045T>C, XM_047440329.1:c.1052T>C, XM_047440328.1:c.1055T>C, XP_011527232.1:p.Val696Ala, NP_065764.1:p.Val682Ala, XP_047296282.1:p.Val757Ala, XP_047296283.1:p.Val682Ala, XP_047296285.1:p.Val351Ala, XP_047296284.1:p.Val352Ala

dbSNP

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