SNP Links for Nucleotide (Select 296434313) - SNP

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:98532900 (GRCh38)
12:98926678 (GRCh37)
Canonical SPDI:: NC_000012.12:98532899:G:C
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_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.98532900G>C, NC_000012.11:g.98926678G>C, NG_021393.1:g.22328G>C, NM_003276.2:c.643G>C, XM_017019914.3:c.-264G>C, XM_017019914.2:c.-264G>C, XM_017019914.1:c.-264G>C, NP_003267.1:p.Gly215Arg

Select item 148177274317.

rs1481772743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:98534837 (GRCh38)
12:98928615 (GRCh37)
Canonical SPDI:: NC_000012.12:98534836:G:T
Gene:: TMPO (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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.98534837G>T, NC_000012.11:g.98928615G>T, NG_021393.1:g.24265G>T, NM_003276.2:c.*495G>T, XM_017019914.3:c.*495G>T, XM_017019914.2:c.*495G>T, XM_017019914.1:c.*495G>T

Select item 148087543118.

rs1480875431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:98533906 (GRCh38)
12:98927684 (GRCh37)
Canonical SPDI:: NC_000012.12:98533905:T:C
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98533906T>C, NC_000012.11:g.98927684T>C, NG_021393.1:g.23334T>C, NM_003276.2:c.1649T>C, XM_017019914.3:c.743T>C, XM_017019914.2:c.743T>C, XM_017019914.1:c.743T>C, NP_003267.1:p.Leu550Pro, XP_016875403.1:p.Leu248Pro

Select item 148071566219.

rs1480715662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98531744 (GRCh38)
12:98925522 (GRCh37)
Canonical SPDI:: NC_000012.12:98531743:A:G
Gene:: TMPO (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000014/2 (GnomAD)
G=0.000099/25 (GnomAD_exomes)
G=0.000206/25 (ExAC)
G=0.01/6 (NorthernSweden)
HGVS:: NC_000012.12:g.98531744A>G, NC_000012.11:g.98925522A>G, NG_021393.1:g.21172A>G, NM_001032283.3:c.471A>G, NM_001032283.2:c.471A>G, NM_001032284.3:c.471A>G, NM_001032284.2:c.471A>G, NM_001307975.2:c.471A>G, NM_001307975.1:c.471A>G, NM_003276.2:c.471A>G, XM_005269132.5:c.471A>G, XM_005269132.4:c.471A>G, XM_005269132.3:c.471A>G, XM_005269132.2:c.471A>G, XM_005269132.1:c.471A>G, XM_017019914.3:c.-436A>G, XM_017019914.2:c.-436A>G, XM_017019914.1:c.-436A>G

Select item 147927186420.

rs1479271864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:98535251 (GRCh38)
12:98929029 (GRCh37)
Canonical SPDI:: NC_000012.12:98535250:C:A
Gene:: TMPO (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.98535251C>A, NC_000012.11:g.98929029C>A, NG_021393.1:g.24679C>A, NM_003276.2:c.*909C>A, XM_017019914.3:c.*909C>A, XM_017019914.2:c.*909C>A, XM_017019914.1:c.*909C>A

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