SNP Links for Nucleotide (Select 733605925) - SNP - NCBI

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Links from Nucleotide

Items: 1 to 20 of 462

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Select item 14887435551.

rs1488743555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:49228054 (GRCh38)
12:49621837 (GRCh37)
Canonical SPDI:: NC_000012.12:49228053:T:C,NC_000012.12:49228053:T:G
Gene:: TUBA1C (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_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)
G=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49228054T>C, NC_000012.12:g.49228054T>G, NC_000012.11:g.49621837T>C, NC_000012.11:g.49621837T>G, NM_001303115.2:c.-448T>C, NM_001303115.2:c.-448T>G, NM_001303115.1:c.-448T>C, NM_001303115.1:c.-448T>G, NM_001303117.2:c.-333T>C, NM_001303117.2:c.-333T>G, NM_001303117.1:c.-333T>C, NM_001303117.1:c.-333T>G, NM_001303116.2:c.-330T>C, NM_001303116.2:c.-330T>G, NM_001303116.1:c.-330T>C, NM_001303116.1:c.-330T>G, NM_001303114.1:c.101T>C, NM_001303114.1:c.101T>G, NP_001290043.1:p.Leu34Pro, NP_001290043.1:p.Leu34Arg

Select item 14850527592.

rs1485052759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49269914 (GRCh38)
12:49663697 (GRCh37)
Canonical SPDI:: NC_000012.12:49269913:C:T
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
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.49269914C>T, NC_000012.11:g.49663697C>T, NM_032704.5:c.313C>T, NM_032704.4:c.313C>T, NM_032704.3:c.313C>T, NM_001303115.2:c.208C>T, NM_001303115.1:c.208C>T, NM_001303117.2:c.208C>T, NM_001303117.1:c.208C>T, NM_001303116.2:c.208C>T, NM_001303116.1:c.208C>T, NM_001303114.1:c.523C>T, NP_116093.1:p.Arg105Ter, NP_001290044.1:p.Arg70Ter, NP_001290046.1:p.Arg70Ter, NP_001290045.1:p.Arg70Ter, NP_001290043.1:p.Arg175Ter

Select item 14850362843.

rs1485036284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49272690 (GRCh38)
12:49666473 (GRCh37)
Canonical SPDI:: NC_000012.12:49272689:A:G
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49272690A>G, NC_000012.11:g.49666473A>G, NM_032704.5:c.813A>G, NM_032704.4:c.813A>G, NM_032704.3:c.813A>G, NM_001303115.2:c.708A>G, NM_001303115.1:c.708A>G, NM_001303117.2:c.708A>G, NM_001303117.1:c.708A>G, NM_001303116.2:c.708A>G, NM_001303116.1:c.708A>G, NM_001303114.1:c.1023A>G

Select item 14847256654.

rs1484725665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49269536 (GRCh38)
12:49663319 (GRCh37)
Canonical SPDI:: NC_000012.12:49269535:C:T
Gene:: TUBA1C (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.49269536C>T, NC_000012.11:g.49663319C>T, NM_032704.5:c.75C>T, NM_032704.4:c.75C>T, NM_032704.3:c.75C>T, NM_001303115.2:c.-31C>T, NM_001303115.1:c.-31C>T, NM_001303117.2:c.-31C>T, NM_001303117.1:c.-31C>T, NM_001303116.2:c.-31C>T, NM_001303116.1:c.-31C>T, NM_001303114.1:c.285C>T

Select item 14838791825.

rs1483879182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49272772 (GRCh38)
12:49666555 (GRCh37)
Canonical SPDI:: NC_000012.12:49272771:G:A
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49272772G>A, NC_000012.11:g.49666555G>A, NM_032704.5:c.895G>A, NM_032704.4:c.895G>A, NM_032704.3:c.895G>A, NM_001303115.2:c.790G>A, NM_001303115.1:c.790G>A, NM_001303117.2:c.790G>A, NM_001303117.1:c.790G>A, NM_001303116.2:c.790G>A, NM_001303116.1:c.790G>A, NM_001303114.1:c.1105G>A, NP_116093.1:p.Ala299Thr, NP_001290044.1:p.Ala264Thr, NP_001290046.1:p.Ala264Thr, NP_001290045.1:p.Ala264Thr, NP_001290043.1:p.Ala369Thr

Select item 14814224096.

rs1481422409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49272642 (GRCh38)
12:49666425 (GRCh37)
Canonical SPDI:: NC_000012.12:49272641:C:T
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.49272642C>T, NC_000012.11:g.49666425C>T, NM_032704.5:c.765C>T, NM_032704.4:c.765C>T, NM_032704.3:c.765C>T, NM_001303115.2:c.660C>T, NM_001303115.1:c.660C>T, NM_001303117.2:c.660C>T, NM_001303117.1:c.660C>T, NM_001303116.2:c.660C>T, NM_001303116.1:c.660C>T, NM_001303114.1:c.975C>T

Select item 14794630247.

rs1479463024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49269843 (GRCh38)
12:49663626 (GRCh37)
Canonical SPDI:: NC_000012.12:49269842:G:A
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49269843G>A, NC_000012.11:g.49663626G>A, NM_032704.5:c.242G>A, NM_032704.4:c.242G>A, NM_032704.3:c.242G>A, NM_001303115.2:c.137G>A, NM_001303115.1:c.137G>A, NM_001303117.2:c.137G>A, NM_001303117.1:c.137G>A, NM_001303116.2:c.137G>A, NM_001303116.1:c.137G>A, NM_001303114.1:c.452G>A, NP_116093.1:p.Gly81Asp, NP_001290044.1:p.Gly46Asp, NP_001290046.1:p.Gly46Asp, NP_001290045.1:p.Gly46Asp, NP_001290043.1:p.Gly151Asp

Select item 14783838728.

rs1478383872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:49269657 (GRCh38)
12:49663440 (GRCh37)
Canonical SPDI:: NC_000012.12:49269656:G:C
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.49269657G>C, NC_000012.11:g.49663440G>C, NM_032704.5:c.196G>C, NM_032704.4:c.196G>C, NM_032704.3:c.196G>C, NM_001303115.2:c.91G>C, NM_001303115.1:c.91G>C, NM_001303117.2:c.91G>C, NM_001303117.1:c.91G>C, NM_001303116.2:c.91G>C, NM_001303116.1:c.91G>C, NM_001303114.1:c.406G>C, NP_116093.1:p.Val66Leu, NP_001290044.1:p.Val31Leu, NP_001290046.1:p.Val31Leu, NP_001290045.1:p.Val31Leu, NP_001290043.1:p.Val136Leu

Select item 14780754619.

rs1478075461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49273303 (GRCh38)
12:49667086 (GRCh37)
Canonical SPDI:: NC_000012.12:49273302:A:G
Gene:: TUBA1C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.49273303A>G, NC_000012.11:g.49667086A>G, NM_032704.5:c.*76A>G, NM_032704.4:c.*76A>G, NM_032704.3:c.*76A>G, NM_001303115.2:c.*76A>G, NM_001303115.1:c.*76A>G, NM_001303117.2:c.*76A>G, NM_001303117.1:c.*76A>G, NM_001303116.2:c.*76A>G, NM_001303116.1:c.*76A>G, NM_001303114.1:c.*76A>G

Select item 147781985410.

rs1477819854 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCAAA [Show Flanks]
Chromosome:: 12:49272879 (GRCh38)
12:49666663 (GRCh37)
Canonical SPDI:: NC_000012.12:49272879:ATCAAA:ATCAAATCAAA
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCAAATCAAA=0./0 (ALFA)
ATCAA=0.000004/1 (TOPMED)
ATCAA=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49272881_49272885dup, NC_000012.11:g.49666664_49666668dup, NM_032704.5:c.1004_1008dup, NM_032704.4:c.1004_1008dup, NM_032704.3:c.1004_1008dup, NM_001303115.2:c.899_903dup, NM_001303115.1:c.899_903dup, NM_001303117.2:c.899_903dup, NM_001303117.1:c.899_903dup, NM_001303116.2:c.899_903dup, NM_001303116.1:c.899_903dup, NM_001303114.1:c.1214_1218dup, NP_116093.1:p.Thr337fs, NP_001290044.1:p.Thr302fs, NP_001290046.1:p.Thr302fs, NP_001290045.1:p.Thr302fs, NP_001290043.1:p.Thr407fs

Select item 147495827311.

rs1474958273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:49269476 (GRCh38)
12:49663259 (GRCh37)
Canonical SPDI:: NC_000012.12:49269475:C:G
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_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.49269476C>G, NC_000012.11:g.49663259C>G, NM_032704.5:c.15C>G, NM_032704.4:c.15C>G, NM_032704.3:c.15C>G, NM_001303115.2:c.-91C>G, NM_001303115.1:c.-91C>G, NM_001303117.2:c.-91C>G, NM_001303117.1:c.-91C>G, NM_001303116.2:c.-91C>G, NM_001303116.1:c.-91C>G, NM_001303114.1:c.225C>G, NP_116093.1:p.Ile5Met, NP_001290043.1:p.Ile75Met

Select item 146878426312.

rs1468784263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:49272537 (GRCh38)
12:49666320 (GRCh37)
Canonical SPDI:: NC_000012.12:49272536:G:C,NC_000012.12:49272536:G:T
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49272537G>C, NC_000012.12:g.49272537G>T, NC_000012.11:g.49666320G>C, NC_000012.11:g.49666320G>T, NM_032704.5:c.660G>C, NM_032704.5:c.660G>T, NM_032704.4:c.660G>C, NM_032704.4:c.660G>T, NM_032704.3:c.660G>C, NM_032704.3:c.660G>T, NM_001303115.2:c.555G>C, NM_001303115.2:c.555G>T, NM_001303115.1:c.555G>C, NM_001303115.1:c.555G>T, NM_001303117.2:c.555G>C, NM_001303117.2:c.555G>T, NM_001303117.1:c.555G>C, NM_001303117.1:c.555G>T, NM_001303116.2:c.555G>C, NM_001303116.2:c.555G>T, NM_001303116.1:c.555G>C, NM_001303116.1:c.555G>T, NM_001303114.1:c.870G>C, NM_001303114.1:c.870G>T, NP_116093.1:p.Glu220Asp, NP_116093.1:p.Glu220Asp, NP_001290044.1:p.Glu185Asp, NP_001290044.1:p.Glu185Asp, NP_001290046.1:p.Glu185Asp, NP_001290046.1:p.Glu185Asp, NP_001290045.1:p.Glu185Asp, NP_001290045.1:p.Glu185Asp, NP_001290043.1:p.Glu290Asp, NP_001290043.1:p.Glu290Asp

Select item 146427199713.

rs1464271997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49272444 (GRCh38)
12:49666227 (GRCh37)
Canonical SPDI:: NC_000012.12:49272443:C:T
Gene:: TUBA1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49272444C>T, NC_000012.11:g.49666227C>T, NM_032704.5:c.567C>T, NM_032704.4:c.567C>T, NM_032704.3:c.567C>T, NM_001303115.2:c.462C>T, NM_001303115.1:c.462C>T, NM_001303117.2:c.462C>T, NM_001303117.1:c.462C>T, NM_001303116.2:c.462C>T, NM_001303116.1:c.462C>T, NM_001303114.1:c.777C>T

Select item 146050658914.

rs1460506589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49228115 (GRCh38)
12:49621898 (GRCh37)
Canonical SPDI:: NC_000012.12:49228114:T:C
Gene:: TUBA1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000016/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.49228115T>C, NC_000012.11:g.49621898T>C, NM_001303115.2:c.-387T>C, NM_001303115.1:c.-387T>C, NM_001303117.2:c.-272T>C, NM_001303117.1:c.-272T>C, NM_001303116.2:c.-269T>C, NM_001303116.1:c.-269T>C, NM_001303114.1:c.162T>C

Select item 146021265315.

rs1460212653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49273179 (GRCh38)
12:49666962 (GRCh37)
Canonical SPDI:: NC_000012.12:49273178:G:A
Gene:: TUBA1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.49273179G>A, NC_000012.11:g.49666962G>A, NM_032704.5:c.1302G>A, NM_032704.4:c.1302G>A, NM_032704.3:c.1302G>A, NM_001303115.2:c.1197G>A, NM_001303115.1:c.1197G>A, NM_001303117.2:c.1197G>A, NM_001303117.1:c.1197G>A, NM_001303116.2:c.1197G>A, NM_001303116.1:c.1197G>A, NM_001303114.1:c.1512G>A

Select item 145891360116.

rs1458913601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49228093 (GRCh38)
12:49621876 (GRCh37)
Canonical SPDI:: NC_000012.12:49228092:C:T
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49228093C>T, NC_000012.11:g.49621876C>T, NM_001303115.2:c.-409C>T, NM_001303115.1:c.-409C>T, NM_001303117.2:c.-294C>T, NM_001303117.1:c.-294C>T, NM_001303116.2:c.-291C>T, NM_001303116.1:c.-291C>T, NM_001303114.1:c.140C>T, NP_001290043.1:p.Thr47Ile

Select item 145878931617.

rs1458789316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49272569 (GRCh38)
12:49666352 (GRCh37)
Canonical SPDI:: NC_000012.12:49272568:T:C
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49272569T>C, NC_000012.11:g.49666352T>C, NM_032704.5:c.692T>C, NM_032704.4:c.692T>C, NM_032704.3:c.692T>C, NM_001303115.2:c.587T>C, NM_001303115.1:c.587T>C, NM_001303117.2:c.587T>C, NM_001303117.1:c.587T>C, NM_001303116.2:c.587T>C, NM_001303116.1:c.587T>C, NM_001303114.1:c.902T>C, NP_116093.1:p.Ile231Thr, NP_001290044.1:p.Ile196Thr, NP_001290046.1:p.Ile196Thr, NP_001290045.1:p.Ile196Thr, NP_001290043.1:p.Ile301Thr

Select item 145761446518.

rs1457614465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49269848 (GRCh38)
12:49663631 (GRCh37)
Canonical SPDI:: NC_000012.12:49269847:T:C
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49269848T>C, NC_000012.11:g.49663631T>C, NM_032704.5:c.247T>C, NM_032704.4:c.247T>C, NM_032704.3:c.247T>C, NM_001303115.2:c.142T>C, NM_001303115.1:c.142T>C, NM_001303117.2:c.142T>C, NM_001303117.1:c.142T>C, NM_001303116.2:c.142T>C, NM_001303116.1:c.142T>C, NM_001303114.1:c.457T>C, NP_116093.1:p.Tyr83His, NP_001290044.1:p.Tyr48His, NP_001290046.1:p.Tyr48His, NP_001290045.1:p.Tyr48His, NP_001290043.1:p.Tyr153His

Select item 145698999619.

rs1456989996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:49272509 (GRCh38)
12:49666292 (GRCh37)
Canonical SPDI:: NC_000012.12:49272508:A:C
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.49272509A>C, NC_000012.11:g.49666292A>C, NM_032704.5:c.632A>C, NM_032704.4:c.632A>C, NM_032704.3:c.632A>C, NM_001303115.2:c.527A>C, NM_001303115.1:c.527A>C, NM_001303117.2:c.527A>C, NM_001303117.1:c.527A>C, NM_001303116.2:c.527A>C, NM_001303116.1:c.527A>C, NM_001303114.1:c.842A>C, NP_116093.1:p.Asp211Ala, NP_001290044.1:p.Asp176Ala, NP_001290046.1:p.Asp176Ala, NP_001290045.1:p.Asp176Ala, NP_001290043.1:p.Asp281Ala

Select item 145482850020.

rs1454828500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49269564 (GRCh38)
12:49663347 (GRCh37)
Canonical SPDI:: NC_000012.12:49269563:C:T
Gene:: TUBA1C (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49269564C>T, NC_000012.11:g.49663347C>T, NM_032704.5:c.103C>T, NM_032704.4:c.103C>T, NM_032704.3:c.103C>T, NM_001303115.2:c.-3C>T, NM_001303115.1:c.-3C>T, NM_001303117.2:c.-3C>T, NM_001303117.1:c.-3C>T, NM_001303116.2:c.-3C>T, NM_001303116.1:c.-3C>T, NM_001303114.1:c.313C>T, NP_116093.1:p.Gln35Ter, NP_001290043.1:p.Gln105Ter

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