SNP Links for Protein (Select 385198059) - SNP

Links from Protein

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Select item 14888172941.

rs1488817294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:6557199 (GRCh38)
12:6666365 (GRCh37)
Canonical SPDI:: NC_000012.12:6557198:G:A,NC_000012.12:6557198:G:T
Gene:: NOP2 (Varview), IFFO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000012.12:g.6557199G>A, NC_000012.12:g.6557199G>T, NC_000012.11:g.6666365G>A, NC_000012.11:g.6666365G>T, NM_006170.4:c.2221C>T, NM_006170.4:c.2221C>A, NM_006170.3:c.2221C>T, NM_006170.3:c.2221C>A, NM_001033714.3:c.2221C>T, NM_001033714.3:c.2221C>A, NM_001033714.2:c.2221C>T, NM_001033714.2:c.2221C>A, NM_001258310.2:c.*456C>T, NM_001258310.2:c.*456C>A, NM_001258310.1:c.*456C>T, NM_001258310.1:c.*456C>A, NM_001258309.2:c.2332C>T, NM_001258309.2:c.2332C>A, NM_001258309.1:c.2332C>T, NM_001258309.1:c.2332C>A, NM_001258308.2:c.2233C>T, NM_001258308.2:c.2233C>A, NM_001258308.1:c.2233C>T, NM_001258308.1:c.2233C>A, NP_006161.2:p.His741Tyr, NP_006161.2:p.His741Asn, NP_001028886.1:p.His741Tyr, NP_001028886.1:p.His741Asn, NP_001245238.1:p.His778Tyr, NP_001245238.1:p.His778Asn, NP_001245237.1:p.His745Tyr, NP_001245237.1:p.His745Asn

Select item 14875234502.

rs1487523450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:6567851 (GRCh38)
12:6677017 (GRCh37)
Canonical SPDI:: NC_000012.12:6567850:C:A,NC_000012.12:6567850:C:G
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6567851C>A, NC_000012.12:g.6567851C>G, NC_000012.11:g.6677017C>A, NC_000012.11:g.6677017C>G, NM_006170.4:c.68G>T, NM_006170.4:c.68G>C, NM_006170.3:c.68G>T, NM_006170.3:c.68G>C, NM_001033714.3:c.68G>T, NM_001033714.3:c.68G>C, NM_001033714.2:c.68G>T, NM_001033714.2:c.68G>C, NM_001258310.2:c.68G>T, NM_001258310.2:c.68G>C, NM_001258310.1:c.68G>T, NM_001258310.1:c.68G>C, NM_001258309.2:c.68G>T, NM_001258309.2:c.68G>C, NM_001258309.1:c.68G>T, NM_001258309.1:c.68G>C, NM_001258308.2:c.68G>T, NM_001258308.2:c.68G>C, NM_001258308.1:c.68G>T, NM_001258308.1:c.68G>C, NP_006161.2:p.Gly23Val, NP_006161.2:p.Gly23Ala, NP_001028886.1:p.Gly23Val, NP_001028886.1:p.Gly23Ala, NP_001245239.1:p.Gly23Val, NP_001245239.1:p.Gly23Ala, NP_001245238.1:p.Gly23Val, NP_001245238.1:p.Gly23Ala, NP_001245237.1:p.Gly23Val, NP_001245237.1:p.Gly23Ala

Select item 14863591843.

rs1486359184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6561695 (GRCh38)
12:6670861 (GRCh37)
Canonical SPDI:: NC_000012.12:6561694:A:G
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6561695A>G, NC_000012.11:g.6670861A>G, NM_006170.4:c.1164T>C, NM_006170.3:c.1164T>C, NM_001033714.3:c.1164T>C, NM_001033714.2:c.1164T>C, NM_001258310.2:c.1164T>C, NM_001258310.1:c.1164T>C, NM_001258309.2:c.1275T>C, NM_001258309.1:c.1275T>C, NM_001258308.2:c.1176T>C, NM_001258308.1:c.1176T>C

Select item 14856006344.

rs1485600634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6560734 (GRCh38)
12:6669900 (GRCh37)
Canonical SPDI:: NC_000012.12:6560733:C:T
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.6560734C>T, NC_000012.11:g.6669900C>T, NM_006170.4:c.1389G>A, NM_006170.3:c.1389G>A, NM_001033714.3:c.1389G>A, NM_001033714.2:c.1389G>A, NM_001258310.2:c.1389G>A, NM_001258310.1:c.1389G>A, NM_001258309.2:c.1500G>A, NM_001258309.1:c.1500G>A, NM_001258308.2:c.1401G>A, NM_001258308.1:c.1401G>A

Select item 14843936615.

rs1484393661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6563342 (GRCh38)
12:6672508 (GRCh37)
Canonical SPDI:: NC_000012.12:6563341:C:T
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6563342C>T, NC_000012.11:g.6672508C>T, NM_006170.4:c.849G>A, NM_006170.3:c.849G>A, NM_001033714.3:c.849G>A, NM_001033714.2:c.849G>A, NM_001258310.2:c.849G>A, NM_001258310.1:c.849G>A, NM_001258309.2:c.960G>A, NM_001258309.1:c.960G>A, NM_001258308.2:c.861G>A, NM_001258308.1:c.861G>A

Select item 14841939356.

rs1484193935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:6557360 (GRCh38)
12:6666526 (GRCh37)
Canonical SPDI:: NC_000012.12:6557359:T:G
Gene:: NOP2 (Varview), IFFO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6557360T>G, NC_000012.11:g.6666526T>G, NM_006170.4:c.2060A>C, NM_006170.3:c.2060A>C, NM_001033714.3:c.2060A>C, NM_001033714.2:c.2060A>C, NM_001258310.2:c.*295A>C, NM_001258310.1:c.*295A>C, NM_001258309.2:c.2171A>C, NM_001258309.1:c.2171A>C, NM_001258308.2:c.2072A>C, NM_001258308.1:c.2072A>C, NP_006161.2:p.Glu687Ala, NP_001028886.1:p.Glu687Ala, NP_001245238.1:p.Glu724Ala, NP_001245237.1:p.Glu691Ala

Select item 14840403177.

rs1484040317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6557557 (GRCh38)
12:6666723 (GRCh37)
Canonical SPDI:: NC_000012.12:6557556:T:C
Gene:: NOP2 (Varview), IFFO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6557557T>C, NC_000012.11:g.6666723T>C, NM_006170.4:c.1863A>G, NM_006170.3:c.1863A>G, NM_001033714.3:c.1863A>G, NM_001033714.2:c.1863A>G, NM_001258310.2:c.*98A>G, NM_001258310.1:c.*98A>G, NM_001258309.2:c.1974A>G, NM_001258309.1:c.1974A>G, NM_001258308.2:c.1875A>G, NM_001258308.1:c.1875A>G

Select item 14839886698.

rs1483988669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6563412 (GRCh38)
12:6672578 (GRCh37)
Canonical SPDI:: NC_000012.12:6563411:G:A
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.6563412G>A, NC_000012.11:g.6672578G>A, NM_006170.4:c.779C>T, NM_006170.3:c.779C>T, NM_001033714.3:c.779C>T, NM_001033714.2:c.779C>T, NM_001258310.2:c.779C>T, NM_001258310.1:c.779C>T, NM_001258309.2:c.890C>T, NM_001258309.1:c.890C>T, NM_001258308.2:c.791C>T, NM_001258308.1:c.791C>T, NP_006161.2:p.Ser260Phe, NP_001028886.1:p.Ser260Phe, NP_001245239.1:p.Ser260Phe, NP_001245238.1:p.Ser297Phe, NP_001245237.1:p.Ser264Phe

Select item 14833673579.

rs1483367357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6557438 (GRCh38)
12:6666604 (GRCh37)
Canonical SPDI:: NC_000012.12:6557437:G:A
Gene:: NOP2 (Varview), IFFO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6557438G>A, NC_000012.11:g.6666604G>A, NM_006170.4:c.1982C>T, NM_006170.3:c.1982C>T, NM_001033714.3:c.1982C>T, NM_001033714.2:c.1982C>T, NM_001258310.2:c.*217C>T, NM_001258310.1:c.*217C>T, NM_001258309.2:c.2093C>T, NM_001258309.1:c.2093C>T, NM_001258308.2:c.1994C>T, NM_001258308.1:c.1994C>T, NP_006161.2:p.Pro661Leu, NP_001028886.1:p.Pro661Leu, NP_001245238.1:p.Pro698Leu, NP_001245237.1:p.Pro665Leu

Select item 148157649910.

rs1481576499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6566101 (GRCh38)
12:6675267 (GRCh37)
Canonical SPDI:: NC_000012.12:6566100:C:T
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.6566101C>T, NC_000012.11:g.6675267C>T, NM_006170.4:c.462G>A, NM_006170.3:c.462G>A, NM_001033714.3:c.462G>A, NM_001033714.2:c.462G>A, NM_001258310.2:c.462G>A, NM_001258310.1:c.462G>A, NM_001258309.2:c.474G>A, NM_001258309.1:c.474G>A, NM_001258308.2:c.474G>A, NM_001258308.1:c.474G>A

Select item 148072021211.

rs1480720212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6561793 (GRCh38)
12:6670959 (GRCh37)
Canonical SPDI:: NC_000012.12:6561792:C:G
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6561793C>G, NC_000012.11:g.6670959C>G, NM_006170.4:c.1066G>C, NM_006170.3:c.1066G>C, NM_001033714.3:c.1066G>C, NM_001033714.2:c.1066G>C, NM_001258310.2:c.1066G>C, NM_001258310.1:c.1066G>C, NM_001258309.2:c.1177G>C, NM_001258309.1:c.1177G>C, NM_001258308.2:c.1078G>C, NM_001258308.1:c.1078G>C, NP_006161.2:p.Glu356Gln, NP_001028886.1:p.Glu356Gln, NP_001245239.1:p.Glu356Gln, NP_001245238.1:p.Glu393Gln, NP_001245237.1:p.Glu360Gln

Select item 147975523212.

rs1479755232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6560976 (GRCh38)
12:6670142 (GRCh37)
Canonical SPDI:: NC_000012.12:6560975:G:A
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6560976G>A, NC_000012.11:g.6670142G>A, NM_006170.4:c.1290C>T, NM_006170.3:c.1290C>T, NM_001033714.3:c.1290C>T, NM_001033714.2:c.1290C>T, NM_001258310.2:c.1290C>T, NM_001258310.1:c.1290C>T, NM_001258309.2:c.1401C>T, NM_001258309.1:c.1401C>T, NM_001258308.2:c.1302C>T, NM_001258308.1:c.1302C>T

Select item 147732909213.

rs1477329092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6563915 (GRCh38)
12:6673081 (GRCh37)
Canonical SPDI:: NC_000012.12:6563914:T:C
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6563915T>C, NC_000012.11:g.6673081T>C, NM_006170.4:c.494A>G, NM_006170.3:c.494A>G, NM_001033714.3:c.494A>G, NM_001033714.2:c.494A>G, NM_001258310.2:c.494A>G, NM_001258310.1:c.494A>G, NM_001258309.2:c.605A>G, NM_001258309.1:c.605A>G, NM_001258308.2:c.506A>G, NM_001258308.1:c.506A>G, NP_006161.2:p.Gln165Arg, NP_001028886.1:p.Gln165Arg, NP_001245239.1:p.Gln165Arg, NP_001245238.1:p.Gln202Arg, NP_001245237.1:p.Gln169Arg

Select item 147705431414.

rs1477054314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6566603 (GRCh38)
12:6675769 (GRCh37)
Canonical SPDI:: NC_000012.12:6566602:C:G
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6566603C>G, NC_000012.11:g.6675769C>G, NM_006170.4:c.164G>C, NM_006170.3:c.164G>C, NM_001033714.3:c.164G>C, NM_001033714.2:c.164G>C, NM_001258310.2:c.164G>C, NM_001258310.1:c.164G>C, NM_001258309.2:c.164G>C, NM_001258309.1:c.164G>C, NM_001258308.2:c.164G>C, NM_001258308.1:c.164G>C, NP_006161.2:p.Arg55Thr, NP_001028886.1:p.Arg55Thr, NP_001245239.1:p.Arg55Thr, NP_001245238.1:p.Arg55Thr, NP_001245237.1:p.Arg55Thr

Select item 147568385215.

rs1475683852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6557223 (GRCh38)
12:6666389 (GRCh37)
Canonical SPDI:: NC_000012.12:6557222:G:C
Gene:: NOP2 (Varview), IFFO1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6557223G>C, NC_000012.11:g.6666389G>C, NM_006170.4:c.2197C>G, NM_006170.3:c.2197C>G, NM_001033714.3:c.2197C>G, NM_001033714.2:c.2197C>G, NM_001258310.2:c.*432C>G, NM_001258310.1:c.*432C>G, NM_001258309.2:c.2308C>G, NM_001258309.1:c.2308C>G, NM_001258308.2:c.2209C>G, NM_001258308.1:c.2209C>G, NP_006161.2:p.Gln733Glu, NP_001028886.1:p.Gln733Glu, NP_001245238.1:p.Gln770Glu, NP_001245237.1:p.Gln737Glu

Select item 147496297316.

rs1474962973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6561970 (GRCh38)
12:6671136 (GRCh37)
Canonical SPDI:: NC_000012.12:6561969:G:A
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.6561970G>A, NC_000012.11:g.6671136G>A, NM_006170.4:c.968C>T, NM_006170.3:c.968C>T, NM_001033714.3:c.968C>T, NM_001033714.2:c.968C>T, NM_001258310.2:c.968C>T, NM_001258310.1:c.968C>T, NM_001258309.2:c.1079C>T, NM_001258309.1:c.1079C>T, NM_001258308.2:c.980C>T, NM_001258308.1:c.980C>T, NP_006161.2:p.Ala323Val, NP_001028886.1:p.Ala323Val, NP_001245239.1:p.Ala323Val, NP_001245238.1:p.Ala360Val, NP_001245237.1:p.Ala327Val

Select item 147360562617.

rs1473605626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6560965 (GRCh38)
12:6670131 (GRCh37)
Canonical SPDI:: NC_000012.12:6560964:A:G
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.6560965A>G, NC_000012.11:g.6670131A>G, NM_006170.4:c.1301T>C, NM_006170.3:c.1301T>C, NM_001033714.3:c.1301T>C, NM_001033714.2:c.1301T>C, NM_001258310.2:c.1301T>C, NM_001258310.1:c.1301T>C, NM_001258309.2:c.1412T>C, NM_001258309.1:c.1412T>C, NM_001258308.2:c.1313T>C, NM_001258308.1:c.1313T>C, NP_006161.2:p.Ile434Thr, NP_001028886.1:p.Ile434Thr, NP_001245239.1:p.Ile434Thr, NP_001245238.1:p.Ile471Thr, NP_001245237.1:p.Ile438Thr

Select item 147358609518.

rs1473586095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6557060 (GRCh38)
12:6666226 (GRCh37)
Canonical SPDI:: NC_000012.12:6557059:C:G
Gene:: NOP2 (Varview), IFFO1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6557060C>G, NC_000012.11:g.6666226C>G, NM_006170.4:c.2360G>C, NM_006170.3:c.2360G>C, NM_001033714.3:c.2360G>C, NM_001033714.2:c.2360G>C, NM_001258310.2:c.*595G>C, NM_001258310.1:c.*595G>C, NM_001258309.2:c.2471G>C, NM_001258309.1:c.2471G>C, NM_001258308.2:c.2372G>C, NM_001258308.1:c.2372G>C, NP_006161.2:p.Ser787Thr, NP_001028886.1:p.Ser787Thr, NP_001245238.1:p.Ser824Thr, NP_001245237.1:p.Ser791Thr

Select item 147235526119.

rs1472355261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:6563658 (GRCh38)
12:6672824 (GRCh37)
Canonical SPDI:: NC_000012.12:6563657:T:A,NC_000012.12:6563657:T:C
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
C=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.6563658T>A, NC_000012.12:g.6563658T>C, NC_000012.11:g.6672824T>A, NC_000012.11:g.6672824T>C, NM_006170.4:c.632A>T, NM_006170.4:c.632A>G, NM_006170.3:c.632A>T, NM_006170.3:c.632A>G, NM_001033714.3:c.632A>T, NM_001033714.3:c.632A>G, NM_001033714.2:c.632A>T, NM_001033714.2:c.632A>G, NM_001258310.2:c.632A>T, NM_001258310.2:c.632A>G, NM_001258310.1:c.632A>T, NM_001258310.1:c.632A>G, NM_001258309.2:c.743A>T, NM_001258309.2:c.743A>G, NM_001258309.1:c.743A>T, NM_001258309.1:c.743A>G, NM_001258308.2:c.644A>T, NM_001258308.2:c.644A>G, NM_001258308.1:c.644A>T, NM_001258308.1:c.644A>G, NP_006161.2:p.Asp211Val, NP_006161.2:p.Asp211Gly, NP_001028886.1:p.Asp211Val, NP_001028886.1:p.Asp211Gly, NP_001245239.1:p.Asp211Val, NP_001245239.1:p.Asp211Gly, NP_001245238.1:p.Asp248Val, NP_001245238.1:p.Asp248Gly, NP_001245237.1:p.Asp215Val, NP_001245237.1:p.Asp215Gly

Select item 146747611220.

rs1467476112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6563933 (GRCh38)
12:6673099 (GRCh37)
Canonical SPDI:: NC_000012.12:6563932:T:C
Gene:: NOP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6563933T>C, NC_000012.11:g.6673099T>C, NM_006170.4:c.476A>G, NM_006170.3:c.476A>G, NM_001033714.3:c.476A>G, NM_001033714.2:c.476A>G, NM_001258310.2:c.476A>G, NM_001258310.1:c.476A>G, NM_001258309.2:c.587A>G, NM_001258309.1:c.587A>G, NM_001258308.2:c.488A>G, NM_001258308.1:c.488A>G, NP_006161.2:p.Glu159Gly, NP_001028886.1:p.Glu159Gly, NP_001245239.1:p.Glu159Gly, NP_001245238.1:p.Glu196Gly, NP_001245237.1:p.Glu163Gly

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