SNP Links for Protein (Select 994318641) - 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 14628885545.

rs1462888554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56712766 (GRCh38)
12:57106550 (GRCh37)
Canonical SPDI:: NC_000012.12:56712765:A:G
Gene:: NACA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56712766A>G, NC_000012.11:g.57106550A>G, NG_030341.1:g.17777T>C, NM_001320194.2:c.653T>C, NM_001320194.1:c.653T>C, NP_001307123.1:p.Val218Ala