SNP Links for Protein (Select 163965362) - SNP

Select item 14899222431.

rs1489922243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56712897 (GRCh38)
12:57106681 (GRCh37)
Canonical SPDI:: NC_000012.12:56712896:T:C
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56712897T>C, NC_000012.11:g.57106681T>C, NG_030341.1:g.17646A>G, NM_005594.6:c.522A>G, NM_005594.5:c.522A>G, NM_005594.4:c.522A>G, NM_005594.3:c.522A>G, NM_005594.2:c.522A>G, NM_005594.1:c.522A>G, NM_001113203.3:c.2652A>G, NM_001113203.2:c.2652A>G, NM_001113201.3:c.522A>G, NM_001113201.2:c.522A>G, NM_001113201.1:c.522A>G, NM_001320194.2:c.522A>G, NM_001320194.1:c.522A>G, NM_001320193.2:c.522A>G, NM_001320193.1:c.522A>G, NM_001113202.2:c.522A>G, NM_001113202.1:c.522A>G, NM_001365896.1:c.6111A>G, NR_045277.1:n.845A>G

Select item 14874485002.

rs1487448500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56713581 (GRCh38)
12:57107365 (GRCh37)
Canonical SPDI:: NC_000012.12:56713580:T:C
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_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_000012.12:g.56713581T>C, NC_000012.11:g.57107365T>C, NG_030341.1:g.16962A>G, NM_005594.6:c.337A>G, NM_005594.5:c.337A>G, NM_005594.4:c.337A>G, NM_005594.3:c.337A>G, NM_005594.2:c.337A>G, NM_005594.1:c.337A>G, NM_001113203.3:c.2467A>G, NM_001113203.2:c.2467A>G, NM_001113201.3:c.337A>G, NM_001113201.2:c.337A>G, NM_001113201.1:c.337A>G, NM_001320194.2:c.337A>G, NM_001320194.1:c.337A>G, NM_001320193.2:c.337A>G, NM_001320193.1:c.337A>G, NM_001113202.2:c.337A>G, NM_001113202.1:c.337A>G, NM_001365896.1:c.5926A>G, NR_045277.1:n.660A>G, NP_005585.1:p.Lys113Glu, NP_001106674.2:p.Lys823Glu, NP_001106672.1:p.Lys113Glu, NP_001307123.1:p.Lys113Glu, NP_001307122.1:p.Lys113Glu, NP_001106673.1:p.Lys113Glu, NP_001352825.1:p.Lys1976Glu

Select item 14777399133.

rs1477739913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56714634 (GRCh38)
12:57108418 (GRCh37)
Canonical SPDI:: NC_000012.12:56714633:C:T
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56714634C>T, NC_000012.11:g.57108418C>T, NG_030341.1:g.15909G>A, NM_005594.6:c.124G>A, NM_005594.5:c.124G>A, NM_005594.4:c.124G>A, NM_005594.3:c.124G>A, NM_005594.2:c.124G>A, NM_005594.1:c.124G>A, NM_001113203.3:c.2254G>A, NM_001113203.2:c.2254G>A, NM_001113201.3:c.124G>A, NM_001113201.2:c.124G>A, NM_001113201.1:c.124G>A, NM_001320194.2:c.124G>A, NM_001320194.1:c.124G>A, NM_001320193.2:c.124G>A, NM_001320193.1:c.124G>A, NM_001113202.2:c.124G>A, NM_001113202.1:c.124G>A, NM_001365896.1:c.5713G>A, NR_045277.1:n.447G>A, NP_005585.1:p.Asp42Asn, NP_001106674.2:p.Asp752Asn, NP_001106672.1:p.Asp42Asn, NP_001307123.1:p.Asp42Asn, NP_001307122.1:p.Asp42Asn, NP_001106673.1:p.Asp42Asn, NP_001352825.1:p.Asp1905Asn

Select item 14727846904.

rs1472784690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56713657 (GRCh38)
12:57107441 (GRCh37)
Canonical SPDI:: NC_000012.12:56713656:C:T
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56713657C>T, NC_000012.11:g.57107441C>T, NG_030341.1:g.16886G>A, NM_005594.6:c.261G>A, NM_005594.5:c.261G>A, NM_005594.4:c.261G>A, NM_005594.3:c.261G>A, NM_005594.2:c.261G>A, NM_005594.1:c.261G>A, NM_001113203.3:c.2391G>A, NM_001113203.2:c.2391G>A, NM_001113201.3:c.261G>A, NM_001113201.2:c.261G>A, NM_001113201.1:c.261G>A, NM_001320194.2:c.261G>A, NM_001320194.1:c.261G>A, NM_001320193.2:c.261G>A, NM_001320193.1:c.261G>A, NM_001113202.2:c.261G>A, NM_001113202.1:c.261G>A, NM_001365896.1:c.5850G>A, NR_045277.1:n.584G>A

Select item 14477680505.

rs1447768050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56714610 (GRCh38)
12:57108394 (GRCh37)
Canonical SPDI:: NC_000012.12:56714609:G:C
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56714610G>C, NC_000012.11:g.57108394G>C, NG_030341.1:g.15933C>G, NM_005594.6:c.148C>G, NM_005594.5:c.148C>G, NM_005594.4:c.148C>G, NM_005594.3:c.148C>G, NM_005594.2:c.148C>G, NM_005594.1:c.148C>G, NM_001113203.3:c.2278C>G, NM_001113203.2:c.2278C>G, NM_001113201.3:c.148C>G, NM_001113201.2:c.148C>G, NM_001113201.1:c.148C>G, NM_001320194.2:c.148C>G, NM_001320194.1:c.148C>G, NM_001320193.2:c.148C>G, NM_001320193.1:c.148C>G, NM_001113202.2:c.148C>G, NM_001113202.1:c.148C>G, NM_001365896.1:c.5737C>G, NR_045277.1:n.471C>G, NP_005585.1:p.Gln50Glu, NP_001106674.2:p.Gln760Glu, NP_001106672.1:p.Gln50Glu, NP_001307123.1:p.Gln50Glu, NP_001307122.1:p.Gln50Glu, NP_001106673.1:p.Gln50Glu, NP_001352825.1:p.Gln1913Glu

Select item 14375191786.

rs1437519178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56724468 (GRCh38)
12:57118252 (GRCh37)
Canonical SPDI:: NC_000012.12:56724467:C:T
Gene:: NACA (Varview)
Functional Consequence:: 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_000012.12:g.56724468C>T, NC_000012.11:g.57118252C>T, NG_030341.1:g.6075G>A, NM_005594.6:c.54G>A, NM_005594.5:c.54G>A, NM_005594.4:c.54G>A, NM_005594.3:c.54G>A, NM_005594.2:c.54G>A, NM_005594.1:c.54G>A, NM_001113203.3:c.54G>A, NM_001113203.2:c.54G>A, NM_001113201.3:c.54G>A, NM_001113201.2:c.54G>A, NM_001113201.1:c.54G>A, NM_001320194.2:c.54G>A, NM_001320194.1:c.54G>A, NM_001320193.2:c.54G>A, NM_001320193.1:c.54G>A, NM_001113202.2:c.54G>A, NM_001113202.1:c.54G>A, NM_001365896.1:c.54G>A, NR_045277.1:n.377G>A

Select item 14320060737.

rs1432006073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56714646 (GRCh38)
12:57108430 (GRCh37)
Canonical SPDI:: NC_000012.12:56714645:G:T
Gene:: NACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56714646G>T, NC_000012.11:g.57108430G>T, NG_030341.1:g.15897C>A, NM_005594.6:c.112C>A, NM_005594.5:c.112C>A, NM_005594.4:c.112C>A, NM_005594.3:c.112C>A, NM_005594.2:c.112C>A, NM_005594.1:c.112C>A, NM_001113203.3:c.2242C>A, NM_001113203.2:c.2242C>A, NM_001113201.3:c.112C>A, NM_001113201.2:c.112C>A, NM_001113201.1:c.112C>A, NM_001320194.2:c.112C>A, NM_001320194.1:c.112C>A, NM_001320193.2:c.112C>A, NM_001320193.1:c.112C>A, NM_001113202.2:c.112C>A, NM_001113202.1:c.112C>A, NM_001365896.1:c.5701C>A, NR_045277.1:n.435C>A, NP_005585.1:p.Leu38Ile, NP_001106674.2:p.Leu748Ile, NP_001106672.1:p.Leu38Ile, NP_001307123.1:p.Leu38Ile, NP_001307122.1:p.Leu38Ile, NP_001106673.1:p.Leu38Ile, NP_001352825.1:p.Leu1901Ile

Select item 14108172708.

rs1410817270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:56714386 (GRCh38)
12:57108170 (GRCh37)
Canonical SPDI:: NC_000012.12:56714385:A:G,NC_000012.12:56714385:A:T
Gene:: NACA (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.56714386A>G, NC_000012.12:g.56714386A>T, NC_000012.11:g.57108170A>G, NC_000012.11:g.57108170A>T, NG_030341.1:g.16157T>C, NG_030341.1:g.16157T>A, NM_005594.6:c.210T>C, NM_005594.6:c.210T>A, NM_005594.5:c.210T>C, NM_005594.5:c.210T>A, NM_005594.4:c.210T>C, NM_005594.4:c.210T>A, NM_005594.3:c.210T>C, NM_005594.3:c.210T>A, NM_005594.2:c.210T>C, NM_005594.2:c.210T>A, NM_005594.1:c.210T>C, NM_005594.1:c.210T>A, NM_001113203.3:c.2340T>C, NM_001113203.3:c.2340T>A, NM_001113203.2:c.2340T>C, NM_001113203.2:c.2340T>A, NM_001113201.3:c.210T>C, NM_001113201.3:c.210T>A, NM_001113201.2:c.210T>C, NM_001113201.2:c.210T>A, NM_001113201.1:c.210T>C, NM_001113201.1:c.210T>A, NM_001320194.2:c.210T>C, NM_001320194.2:c.210T>A, NM_001320194.1:c.210T>C, NM_001320194.1:c.210T>A, NM_001320193.2:c.210T>C, NM_001320193.2:c.210T>A, NM_001320193.1:c.210T>C, NM_001320193.1:c.210T>A, NM_001113202.2:c.210T>C, NM_001113202.2:c.210T>A, NM_001113202.1:c.210T>C, NM_001113202.1:c.210T>A, NM_001365896.1:c.5799T>C, NM_001365896.1:c.5799T>A, NR_045277.1:n.533T>C, NR_045277.1:n.533T>A, NP_005585.1:p.Ser70Arg, NP_001106674.2:p.Ser780Arg, NP_001106672.1:p.Ser70Arg, NP_001307123.1:p.Ser70Arg, NP_001307122.1:p.Ser70Arg, NP_001106673.1:p.Ser70Arg, NP_001352825.1:p.Ser1933Arg

Select item 14027531559.

rs1402753155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56713092 (GRCh38)
12:57106876 (GRCh37)
Canonical SPDI:: NC_000012.12:56713091:T:C
Gene:: NACA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56713092T>C, NC_000012.11:g.57106876T>C, NG_030341.1:g.17451A>G, NM_005594.6:c.480A>G, NM_005594.5:c.480A>G, NM_005594.4:c.480A>G, NM_005594.3:c.480A>G, NM_005594.2:c.480A>G, NM_005594.1:c.480A>G, NM_001113203.3:c.2610A>G, NM_001113203.2:c.2610A>G, NM_001113201.3:c.480A>G, NM_001113201.2:c.480A>G, NM_001113201.1:c.480A>G, NM_001320194.2:c.480A>G, NM_001320194.1:c.480A>G, NM_001320193.2:c.480A>G, NM_001320193.1:c.480A>G, NM_001113202.2:c.480A>G, NM_001113202.1:c.480A>G, NM_001365896.1:c.6069A>G, NR_045277.1:n.803A>G

Select item 138988590810.

rs1389885908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:56724470 (GRCh38)
12:57118254 (GRCh37)
Canonical SPDI:: NC_000012.12:56724469:G:A,NC_000012.12:56724469:G:C
Gene:: NACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.56724470G>A, NC_000012.12:g.56724470G>C, NC_000012.11:g.57118254G>A, NC_000012.11:g.57118254G>C, NG_030341.1:g.6073C>T, NG_030341.1:g.6073C>G, NM_005594.6:c.52C>T, NM_005594.6:c.52C>G, NM_005594.5:c.52C>T, NM_005594.5:c.52C>G, NM_005594.4:c.52C>T, NM_005594.4:c.52C>G, NM_005594.3:c.52C>T, NM_005594.3:c.52C>G, NM_005594.2:c.52C>T, NM_005594.2:c.52C>G, NM_005594.1:c.52C>T, NM_005594.1:c.52C>G, NM_001113203.3:c.52C>T, NM_001113203.3:c.52C>G, NM_001113203.2:c.52C>T, NM_001113203.2:c.52C>G, NM_001113201.3:c.52C>T, NM_001113201.3:c.52C>G, NM_001113201.2:c.52C>T, NM_001113201.2:c.52C>G, NM_001113201.1:c.52C>T, NM_001113201.1:c.52C>G, NM_001320194.2:c.52C>T, NM_001320194.2:c.52C>G, NM_001320194.1:c.52C>T, NM_001320194.1:c.52C>G, NM_001320193.2:c.52C>T, NM_001320193.2:c.52C>G, NM_001320193.1:c.52C>T, NM_001320193.1:c.52C>G, NM_001113202.2:c.52C>T, NM_001113202.2:c.52C>G, NM_001113202.1:c.52C>T, NM_001113202.1:c.52C>G, NM_001365896.1:c.52C>T, NM_001365896.1:c.52C>G, NR_045277.1:n.375C>T, NR_045277.1:n.375C>G, NP_005585.1:p.Gln18Ter, NP_005585.1:p.Gln18Glu, NP_001106674.2:p.Gln18Ter, NP_001106674.2:p.Gln18Glu, NP_001106672.1:p.Gln18Ter, NP_001106672.1:p.Gln18Glu, NP_001307123.1:p.Gln18Ter, NP_001307123.1:p.Gln18Glu, NP_001307122.1:p.Gln18Ter, NP_001307122.1:p.Gln18Glu, NP_001106673.1:p.Gln18Ter, NP_001106673.1:p.Gln18Glu, NP_001352825.1:p.Gln18Ter, NP_001352825.1:p.Gln18Glu

Select item 138499001811.

rs1384990018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56714385 (GRCh38)
12:57108169 (GRCh37)
Canonical SPDI:: NC_000012.12:56714384:G:T
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56714385G>T, NC_000012.11:g.57108169G>T, NG_030341.1:g.16158C>A, NM_005594.6:c.211C>A, NM_005594.5:c.211C>A, NM_005594.4:c.211C>A, NM_005594.3:c.211C>A, NM_005594.2:c.211C>A, NM_005594.1:c.211C>A, NM_001113203.3:c.2341C>A, NM_001113203.2:c.2341C>A, NM_001113201.3:c.211C>A, NM_001113201.2:c.211C>A, NM_001113201.1:c.211C>A, NM_001320194.2:c.211C>A, NM_001320194.1:c.211C>A, NM_001320193.2:c.211C>A, NM_001320193.1:c.211C>A, NM_001113202.2:c.211C>A, NM_001113202.1:c.211C>A, NM_001365896.1:c.5800C>A, NR_045277.1:n.534C>A

Select item 138199335412.

rs1381993354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:56714423 (GRCh38)
12:57108207 (GRCh37)
Canonical SPDI:: NC_000012.12:56714422:T:G
Gene:: NACA (Varview)
Functional Consequence:: missense_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_000012.12:g.56714423T>G, NC_000012.11:g.57108207T>G, NG_030341.1:g.16120A>C, NM_005594.6:c.173A>C, NM_005594.5:c.173A>C, NM_005594.4:c.173A>C, NM_005594.3:c.173A>C, NM_005594.2:c.173A>C, NM_005594.1:c.173A>C, NM_001113203.3:c.2303A>C, NM_001113203.2:c.2303A>C, NM_001113201.3:c.173A>C, NM_001113201.2:c.173A>C, NM_001113201.1:c.173A>C, NM_001320194.2:c.173A>C, NM_001320194.1:c.173A>C, NM_001320193.2:c.173A>C, NM_001320193.1:c.173A>C, NM_001113202.2:c.173A>C, NM_001113202.1:c.173A>C, NM_001365896.1:c.5762A>C, NR_045277.1:n.496A>C, NP_005585.1:p.Glu58Ala, NP_001106674.2:p.Glu768Ala, NP_001106672.1:p.Glu58Ala, NP_001307123.1:p.Glu58Ala, NP_001307122.1:p.Glu58Ala, NP_001106673.1:p.Glu58Ala, NP_001352825.1:p.Glu1921Ala

Select item 138073974513.

rs1380739745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56713133 (GRCh38)
12:57106917 (GRCh37)
Canonical SPDI:: NC_000012.12:56713132:C:T
Gene:: NACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.56713133C>T, NC_000012.11:g.57106917C>T, NG_030341.1:g.17410G>A, NM_005594.6:c.439G>A, NM_005594.5:c.439G>A, NM_005594.4:c.439G>A, NM_005594.3:c.439G>A, NM_005594.2:c.439G>A, NM_005594.1:c.439G>A, NM_001113203.3:c.2569G>A, NM_001113203.2:c.2569G>A, NM_001113201.3:c.439G>A, NM_001113201.2:c.439G>A, NM_001113201.1:c.439G>A, NM_001320194.2:c.439G>A, NM_001320194.1:c.439G>A, NM_001320193.2:c.439G>A, NM_001320193.1:c.439G>A, NM_001113202.2:c.439G>A, NM_001113202.1:c.439G>A, NM_001365896.1:c.6028G>A, NR_045277.1:n.762G>A, NP_005585.1:p.Gly147Ser, NP_001106674.2:p.Gly857Ser, NP_001106672.1:p.Gly147Ser, NP_001307123.1:p.Gly147Ser, NP_001307122.1:p.Gly147Ser, NP_001106673.1:p.Gly147Ser, NP_001352825.1:p.Gly2010Ser

Select item 137768200714.

rs1377682007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56714415 (GRCh38)
12:57108199 (GRCh37)
Canonical SPDI:: NC_000012.12:56714414:C:T
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56714415C>T, NC_000012.11:g.57108199C>T, NG_030341.1:g.16128G>A, NM_005594.6:c.181G>A, NM_005594.5:c.181G>A, NM_005594.4:c.181G>A, NM_005594.3:c.181G>A, NM_005594.2:c.181G>A, NM_005594.1:c.181G>A, NM_001113203.3:c.2311G>A, NM_001113203.2:c.2311G>A, NM_001113201.3:c.181G>A, NM_001113201.2:c.181G>A, NM_001113201.1:c.181G>A, NM_001320194.2:c.181G>A, NM_001320194.1:c.181G>A, NM_001320193.2:c.181G>A, NM_001320193.1:c.181G>A, NM_001113202.2:c.181G>A, NM_001113202.1:c.181G>A, NM_001365896.1:c.5770G>A, NR_045277.1:n.504G>A, NP_005585.1:p.Glu61Lys, NP_001106674.2:p.Glu771Lys, NP_001106672.1:p.Glu61Lys, NP_001307123.1:p.Glu61Lys, NP_001307122.1:p.Glu61Lys, NP_001106673.1:p.Glu61Lys, NP_001352825.1:p.Glu1924Lys

Select item 136348534715.

rs1363485347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:56712840 (GRCh38)
12:57106624 (GRCh37)
Canonical SPDI:: NC_000012.12:56712839:T:G
Gene:: NACA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56712840T>G, NC_000012.11:g.57106624T>G, NG_030341.1:g.17703A>C, NM_005594.6:c.579A>C, NM_005594.5:c.579A>C, NM_005594.4:c.579A>C, NM_005594.3:c.579A>C, NM_005594.2:c.579A>C, NM_005594.1:c.579A>C, NM_001113203.3:c.2709A>C, NM_001113203.2:c.2709A>C, NM_001113201.3:c.579A>C, NM_001113201.2:c.579A>C, NM_001113201.1:c.579A>C, NM_001320194.2:c.579A>C, NM_001320194.1:c.579A>C, NM_001320193.2:c.579A>C, NM_001320193.1:c.579A>C, NM_001113202.2:c.579A>C, NM_001113202.1:c.579A>C, NM_001365896.1:c.6168A>C, NR_045277.1:n.902A>C

Select item 136164702516.

rs1361647025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56724506 (GRCh38)
12:57118290 (GRCh37)
Canonical SPDI:: NC_000012.12:56724505:T:C
Gene:: NACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.56724506T>C, NC_000012.11:g.57118290T>C, NG_030341.1:g.6037A>G, NM_005594.6:c.16A>G, NM_005594.5:c.16A>G, NM_005594.4:c.16A>G, NM_005594.3:c.16A>G, NM_005594.2:c.16A>G, NM_005594.1:c.16A>G, NM_001113203.3:c.16A>G, NM_001113203.2:c.16A>G, NM_001113201.3:c.16A>G, NM_001113201.2:c.16A>G, NM_001113201.1:c.16A>G, NM_001320194.2:c.16A>G, NM_001320194.1:c.16A>G, NM_001320193.2:c.16A>G, NM_001320193.1:c.16A>G, NM_001113202.2:c.16A>G, NM_001113202.1:c.16A>G, NM_001365896.1:c.16A>G, NR_045277.1:n.339A>G, NP_005585.1:p.Thr6Ala, NP_001106674.2:p.Thr6Ala, NP_001106672.1:p.Thr6Ala, NP_001307123.1:p.Thr6Ala, NP_001307122.1:p.Thr6Ala, NP_001106673.1:p.Thr6Ala, NP_001352825.1:p.Thr6Ala

Select item 135617240917.

rs1356172409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:56713648 (GRCh38)
12:57107432 (GRCh37)
Canonical SPDI:: NC_000012.12:56713647:T:C,NC_000012.12:56713647:T:G
Gene:: NACA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56713648T>C, NC_000012.12:g.56713648T>G, NC_000012.11:g.57107432T>C, NC_000012.11:g.57107432T>G, NG_030341.1:g.16895A>G, NG_030341.1:g.16895A>C, NM_005594.6:c.270A>G, NM_005594.6:c.270A>C, NM_005594.5:c.270A>G, NM_005594.5:c.270A>C, NM_005594.4:c.270A>G, NM_005594.4:c.270A>C, NM_005594.3:c.270A>G, NM_005594.3:c.270A>C, NM_005594.2:c.270A>G, NM_005594.2:c.270A>C, NM_005594.1:c.270A>G, NM_005594.1:c.270A>C, NM_001113203.3:c.2400A>G, NM_001113203.3:c.2400A>C, NM_001113203.2:c.2400A>G, NM_001113203.2:c.2400A>C, NM_001113201.3:c.270A>G, NM_001113201.3:c.270A>C, NM_001113201.2:c.270A>G, NM_001113201.2:c.270A>C, NM_001113201.1:c.270A>G, NM_001113201.1:c.270A>C, NM_001320194.2:c.270A>G, NM_001320194.2:c.270A>C, NM_001320194.1:c.270A>G, NM_001320194.1:c.270A>C, NM_001320193.2:c.270A>G, NM_001320193.2:c.270A>C, NM_001320193.1:c.270A>G, NM_001320193.1:c.270A>C, NM_001113202.2:c.270A>G, NM_001113202.2:c.270A>C, NM_001113202.1:c.270A>G, NM_001113202.1:c.270A>C, NM_001365896.1:c.5859A>G, NM_001365896.1:c.5859A>C, NR_045277.1:n.593A>G, NR_045277.1:n.593A>C

Select item 135532809318.

rs1355328093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56714671 (GRCh38)
12:57108455 (GRCh37)
Canonical SPDI:: NC_000012.12:56714670:A:G
Gene:: NACA (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_000012.12:g.56714671A>G, NC_000012.11:g.57108455A>G, NG_030341.1:g.15872T>C, NM_005594.6:c.87T>C, NM_005594.5:c.87T>C, NM_005594.4:c.87T>C, NM_005594.3:c.87T>C, NM_005594.2:c.87T>C, NM_005594.1:c.87T>C, NM_001113203.3:c.2217T>C, NM_001113203.2:c.2217T>C, NM_001113201.3:c.87T>C, NM_001113201.2:c.87T>C, NM_001113201.1:c.87T>C, NM_001320194.2:c.87T>C, NM_001320194.1:c.87T>C, NM_001320193.2:c.87T>C, NM_001320193.1:c.87T>C, NM_001113202.2:c.87T>C, NM_001113202.1:c.87T>C, NM_001365896.1:c.5676T>C, NR_045277.1:n.410T>C

Select item 135220784819.

rs1352207848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56712861 (GRCh38)
12:57106645 (GRCh37)
Canonical SPDI:: NC_000012.12:56712860:T:C
Gene:: NACA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56712861T>C, NC_000012.11:g.57106645T>C, NG_030341.1:g.17682A>G, NM_005594.6:c.558A>G, NM_005594.5:c.558A>G, NM_005594.4:c.558A>G, NM_005594.3:c.558A>G, NM_005594.2:c.558A>G, NM_005594.1:c.558A>G, NM_001113203.3:c.2688A>G, NM_001113203.2:c.2688A>G, NM_001113201.3:c.558A>G, NM_001113201.2:c.558A>G, NM_001113201.1:c.558A>G, NM_001320194.2:c.558A>G, NM_001320194.1:c.558A>G, NM_001320193.2:c.558A>G, NM_001320193.1:c.558A>G, NM_001113202.2:c.558A>G, NM_001113202.1:c.558A>G, NM_001365896.1:c.6147A>G, NR_045277.1:n.881A>G

Select item 135157464620.

rs1351574646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56714687 (GRCh38)
12:57108471 (GRCh37)
Canonical SPDI:: NC_000012.12:56714686:C:T
Gene:: NACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.56714687C>T, NC_000012.11:g.57108471C>T, NG_030341.1:g.15856G>A, NM_005594.6:c.71G>A, NM_005594.5:c.71G>A, NM_005594.4:c.71G>A, NM_005594.3:c.71G>A, NM_005594.2:c.71G>A, NM_005594.1:c.71G>A, NM_001113203.3:c.2201G>A, NM_001113203.2:c.2201G>A, NM_001113201.3:c.71G>A, NM_001113201.2:c.71G>A, NM_001113201.1:c.71G>A, NM_001320194.2:c.71G>A, NM_001320194.1:c.71G>A, NM_001320193.2:c.71G>A, NM_001320193.1:c.71G>A, NM_001113202.2:c.71G>A, NM_001113202.1:c.71G>A, NM_001365896.1:c.5660G>A, NR_045277.1:n.394G>A, NP_005585.1:p.Gly24Glu, NP_001106674.2:p.Gly734Glu, NP_001106672.1:p.Gly24Glu, NP_001307123.1:p.Gly24Glu, NP_001307122.1:p.Gly24Glu, NP_001106673.1:p.Gly24Glu, NP_001352825.1:p.Gly1887Glu

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Result Filters

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Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 123

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