SNP Links for Nucleotide (Select 290656974) - SNP

Links from Nucleotide

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Select item 14914319681.

rs1491431968 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:66510210 (GRCh38)
16:66544113 (GRCh37)
Canonical SPDI:: NC_000016.10:66510209:CA:
Gene:: TK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.05138/198 (ALSPAC)
-=0.05313/197 (TWINSUK)
HGVS:: NC_000016.10:g.66510210_66510211del, NC_000016.9:g.66544113_66544114del, NG_016862.1:g.45202_45203del, NM_004614.5:c.*1757_*1758del, NM_004614.4:c.*1757_*1758del, NR_073520.2:n.3544_3545del, NR_073520.1:n.3834_3835del, NM_001272050.2:c.*1757_*1758del, NM_001272050.1:c.*1757_*1758del, NM_001271934.2:c.*1757_*1758del, NM_001271934.1:c.*1757_*1758del, NM_001172645.2:c.*1757_*1758del, NM_001172645.1:c.*1757_*1758del, NM_001172644.2:c.*1757_*1758del, NM_001172644.1:c.*1757_*1758del, NM_001172643.1:c.*1757_*1758del, NM_001271935.1:c.*1852_*1853del, NR_073521.1:n.2680_2681del

Select item 14892113642.

rs1489211364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66511885 (GRCh38)
16:66545788 (GRCh37)
Canonical SPDI:: NC_000016.10:66511884:A:G
Gene:: TK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.66511885A>G, NC_000016.9:g.66545788A>G, NG_016862.1:g.43528T>C, NM_004614.5:c.*83T>C, NM_004614.4:c.*83T>C, NR_073520.2:n.1870T>C, NR_073520.1:n.2160T>C, NM_001272050.2:c.*83T>C, NM_001272050.1:c.*83T>C, NM_001271934.2:c.*83T>C, NM_001271934.1:c.*83T>C, NM_001172645.2:c.*83T>C, NM_001172645.1:c.*83T>C, NM_001172644.2:c.*83T>C, NM_001172644.1:c.*83T>C, NM_001172643.1:c.*83T>C, NM_001271935.1:c.*178T>C, NR_073521.1:n.1006T>C

Select item 14890501443.

rs1489050144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:66510256 (GRCh38)
16:66544159 (GRCh37)
Canonical SPDI:: NC_000016.10:66510255:A:C
Gene:: TK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_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_000016.10:g.66510256A>C, NC_000016.9:g.66544159A>C, NG_016862.1:g.45157T>G, NM_004614.5:c.*1712T>G, NM_004614.4:c.*1712T>G, NR_073520.2:n.3499T>G, NR_073520.1:n.3789T>G, NM_001272050.2:c.*1712T>G, NM_001272050.1:c.*1712T>G, NM_001271934.2:c.*1712T>G, NM_001271934.1:c.*1712T>G, NM_001172645.2:c.*1712T>G, NM_001172645.1:c.*1712T>G, NM_001172644.2:c.*1712T>G, NM_001172644.1:c.*1712T>G, NM_001172643.1:c.*1712T>G, NM_001271935.1:c.*1807T>G, NR_073521.1:n.2635T>G

Select item 14888494704.

rs1488849470 [Homo sapiens]

Variant type:: DEL
Alleles:: CTAGTTTCC>- [Show Flanks]
Chromosome:: 16:66509411 (GRCh38)
16:66543314 (GRCh37)
Canonical SPDI:: NC_000016.10:66509410:CTAGTTTCC:
Gene:: TK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.66509411_66509419del, NC_000016.9:g.66543314_66543322del, NG_016862.1:g.45994_46002del, NM_004614.5:c.*2549_*2557del, NM_004614.4:c.*2549_*2557del, NR_073520.2:n.4336_4344del, NR_073520.1:n.4626_4634del, NM_001272050.2:c.*2549_*2557del, NM_001272050.1:c.*2549_*2557del, NM_001271934.2:c.*2549_*2557del, NM_001271934.1:c.*2549_*2557del, NM_001172645.2:c.*2549_*2557del, NM_001172645.1:c.*2549_*2557del, NM_001172644.2:c.*2549_*2557del, NM_001172644.1:c.*2549_*2557del, NM_001172643.1:c.*2549_*2557del, NM_001271935.1:c.*2644_*2652del, NR_073521.1:n.3472_3480del

Select item 14873533225.

rs1487353322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:66508180 (GRCh38)
16:66542083 (GRCh37)
Canonical SPDI:: NC_000016.10:66508179:C:G
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66508180C>G, NC_000016.9:g.66542083C>G, NG_016862.1:g.47233G>C, NM_004614.5:c.*3788G>C, NM_004614.4:c.*3788G>C, NR_073520.2:n.5575G>C, NR_073520.1:n.5865G>C, NM_001272050.2:c.*3788G>C, NM_001272050.1:c.*3788G>C, NM_001271934.2:c.*3788G>C, NM_001271934.1:c.*3788G>C, NM_001172645.2:c.*3788G>C, NM_001172645.1:c.*3788G>C, NM_001172644.2:c.*3788G>C, NM_001172644.1:c.*3788G>C, NM_001172643.1:c.*3788G>C, NM_001271935.1:c.*3883G>C, NR_073521.1:n.4711G>C

Select item 14869381446.

rs1486938144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66510537 (GRCh38)
16:66544440 (GRCh37)
Canonical SPDI:: NC_000016.10:66510536:G:A
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66510537G>A, NC_000016.9:g.66544440G>A, NG_016862.1:g.44876C>T, NM_004614.5:c.*1431C>T, NM_004614.4:c.*1431C>T, NR_073520.2:n.3218C>T, NR_073520.1:n.3508C>T, NM_001272050.2:c.*1431C>T, NM_001272050.1:c.*1431C>T, NM_001271934.2:c.*1431C>T, NM_001271934.1:c.*1431C>T, NM_001172645.2:c.*1431C>T, NM_001172645.1:c.*1431C>T, NM_001172644.2:c.*1431C>T, NM_001172644.1:c.*1431C>T, NM_001172643.1:c.*1431C>T, NM_001271935.1:c.*1526C>T, NR_073521.1:n.2354C>T

Select item 14867172087.

rs1486717208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66509530 (GRCh38)
16:66543433 (GRCh37)
Canonical SPDI:: NC_000016.10:66509529:G:A
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66509530G>A, NC_000016.9:g.66543433G>A, NG_016862.1:g.45883C>T, NM_004614.5:c.*2438C>T, NM_004614.4:c.*2438C>T, NR_073520.2:n.4225C>T, NR_073520.1:n.4515C>T, NM_001272050.2:c.*2438C>T, NM_001272050.1:c.*2438C>T, NM_001271934.2:c.*2438C>T, NM_001271934.1:c.*2438C>T, NM_001172645.2:c.*2438C>T, NM_001172645.1:c.*2438C>T, NM_001172644.2:c.*2438C>T, NM_001172644.1:c.*2438C>T, NM_001172643.1:c.*2438C>T, NM_001271935.1:c.*2533C>T, NR_073521.1:n.3361C>T

Select item 14866534428.

rs1486653442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66510209 (GRCh38)
16:66544112 (GRCh37)
Canonical SPDI:: NC_000016.10:66510208:G:A
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000016.10:g.66510209G>A, NC_000016.9:g.66544112G>A, NG_016862.1:g.45204C>T, NM_004614.5:c.*1759C>T, NM_004614.4:c.*1759C>T, NR_073520.2:n.3546C>T, NR_073520.1:n.3836C>T, NM_001272050.2:c.*1759C>T, NM_001272050.1:c.*1759C>T, NM_001271934.2:c.*1759C>T, NM_001271934.1:c.*1759C>T, NM_001172645.2:c.*1759C>T, NM_001172645.1:c.*1759C>T, NM_001172644.2:c.*1759C>T, NM_001172644.1:c.*1759C>T, NM_001172643.1:c.*1759C>T, NM_001271935.1:c.*1854C>T, NR_073521.1:n.2682C>T

Select item 14862497239.

rs1486249723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66510378 (GRCh38)
16:66544281 (GRCh37)
Canonical SPDI:: NC_000016.10:66510377:A:G
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.66510378A>G, NC_000016.9:g.66544281A>G, NG_016862.1:g.45035T>C, NM_004614.5:c.*1590T>C, NM_004614.4:c.*1590T>C, NR_073520.2:n.3377T>C, NR_073520.1:n.3667T>C, NM_001272050.2:c.*1590T>C, NM_001272050.1:c.*1590T>C, NM_001271934.2:c.*1590T>C, NM_001271934.1:c.*1590T>C, NM_001172645.2:c.*1590T>C, NM_001172645.1:c.*1590T>C, NM_001172644.2:c.*1590T>C, NM_001172644.1:c.*1590T>C, NM_001172643.1:c.*1590T>C, NM_001271935.1:c.*1685T>C, NR_073521.1:n.2513T>C

Select item 148620046310.

rs1486200463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:66509400 (GRCh38)
16:66543303 (GRCh37)
Canonical SPDI:: NC_000016.10:66509399:T:A,NC_000016.10:66509399:T:C
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.66509400T>A, NC_000016.10:g.66509400T>C, NC_000016.9:g.66543303T>A, NC_000016.9:g.66543303T>C, NG_016862.1:g.46013A>T, NG_016862.1:g.46013A>G, NM_004614.5:c.*2568A>T, NM_004614.5:c.*2568A>G, NM_004614.4:c.*2568A>T, NM_004614.4:c.*2568A>G, NR_073520.2:n.4355A>T, NR_073520.2:n.4355A>G, NR_073520.1:n.4645A>T, NR_073520.1:n.4645A>G, NM_001272050.2:c.*2568A>T, NM_001272050.2:c.*2568A>G, NM_001272050.1:c.*2568A>T, NM_001272050.1:c.*2568A>G, NM_001271934.2:c.*2568A>T, NM_001271934.2:c.*2568A>G, NM_001271934.1:c.*2568A>T, NM_001271934.1:c.*2568A>G, NM_001172645.2:c.*2568A>T, NM_001172645.2:c.*2568A>G, NM_001172645.1:c.*2568A>T, NM_001172645.1:c.*2568A>G, NM_001172644.2:c.*2568A>T, NM_001172644.2:c.*2568A>G, NM_001172644.1:c.*2568A>T, NM_001172644.1:c.*2568A>G, NM_001172643.1:c.*2568A>T, NM_001172643.1:c.*2568A>G, NM_001271935.1:c.*2663A>T, NM_001271935.1:c.*2663A>G, NR_073521.1:n.3491A>T, NR_073521.1:n.3491A>G

Select item 148586066511.

rs1485860665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66548995 (GRCh38)
16:66582898 (GRCh37)
Canonical SPDI:: NC_000016.10:66548994:T:C
Gene:: TK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66548995T>C, NC_000016.9:g.66582898T>C, NG_016862.1:g.6418A>G, NM_004614.5:c.139A>G, NM_004614.4:c.139A>G, NR_073520.2:n.1128A>G, NR_073520.1:n.1418A>G, NM_001272050.2:c.-153A>G, NM_001272050.1:c.-153A>G, NM_001271934.2:c.-104A>G, NM_001271934.1:c.-104A>G, NM_001172645.2:c.139A>G, NM_001172645.1:c.139A>G, NM_001172644.2:c.139A>G, NM_001172644.1:c.139A>G, NM_001172643.1:c.46A>G, NM_001271935.1:c.46A>G, NR_073521.1:n.264A>G, NP_004605.4:p.Lys47Glu, NP_001166116.1:p.Lys47Glu, NP_001166115.1:p.Lys47Glu, NP_001166114.1:p.Lys16Glu, NP_001258864.1:p.Lys16Glu

Select item 148569632912.

rs1485696329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66517844 (GRCh38)
16:66551747 (GRCh37)
Canonical SPDI:: NC_000016.10:66517843:C:T
Gene:: TK2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66517844C>T, NC_000016.9:g.66551747C>T, NG_016862.1:g.37569G>A, NM_004614.5:c.483G>A, NM_004614.4:c.483G>A, NR_073520.2:n.1472G>A, NR_073520.1:n.1762G>A, NM_001272050.2:c.192G>A, NM_001272050.1:c.192G>A, NM_001271934.2:c.336G>A, NM_001271934.1:c.336G>A, NM_001172645.2:c.429G>A, NM_001172645.1:c.429G>A, NM_001172644.2:c.408G>A, NM_001172644.1:c.408G>A, NM_001172643.1:c.390G>A, NR_073521.1:n.608G>A

Select item 148530370613.

rs1485303706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66510158 (GRCh38)
16:66544061 (GRCh37)
Canonical SPDI:: NC_000016.10:66510157:G:A
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.66510158G>A, NC_000016.9:g.66544061G>A, NG_016862.1:g.45255C>T, NM_004614.5:c.*1810C>T, NM_004614.4:c.*1810C>T, NR_073520.2:n.3597C>T, NR_073520.1:n.3887C>T, NM_001272050.2:c.*1810C>T, NM_001272050.1:c.*1810C>T, NM_001271934.2:c.*1810C>T, NM_001271934.1:c.*1810C>T, NM_001172645.2:c.*1810C>T, NM_001172645.1:c.*1810C>T, NM_001172644.2:c.*1810C>T, NM_001172644.1:c.*1810C>T, NM_001172643.1:c.*1810C>T, NM_001271935.1:c.*1905C>T, NR_073521.1:n.2733C>T

Select item 148497612914.

rs1484976129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66509584 (GRCh38)
16:66543487 (GRCh37)
Canonical SPDI:: NC_000016.10:66509583:G:A
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66509584G>A, NC_000016.9:g.66543487G>A, NG_016862.1:g.45829C>T, NM_004614.5:c.*2384C>T, NM_004614.4:c.*2384C>T, NR_073520.2:n.4171C>T, NR_073520.1:n.4461C>T, NM_001272050.2:c.*2384C>T, NM_001272050.1:c.*2384C>T, NM_001271934.2:c.*2384C>T, NM_001271934.1:c.*2384C>T, NM_001172645.2:c.*2384C>T, NM_001172645.1:c.*2384C>T, NM_001172644.2:c.*2384C>T, NM_001172644.1:c.*2384C>T, NM_001172643.1:c.*2384C>T, NM_001271935.1:c.*2479C>T, NR_073521.1:n.3307C>T

Select item 148476240515.

rs1484762405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66508449 (GRCh38)
16:66542352 (GRCh37)
Canonical SPDI:: NC_000016.10:66508448:A:G
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.66508449A>G, NC_000016.9:g.66542352A>G, NG_016862.1:g.46964T>C, NM_004614.5:c.*3519T>C, NM_004614.4:c.*3519T>C, NR_073520.2:n.5306T>C, NR_073520.1:n.5596T>C, NM_001272050.2:c.*3519T>C, NM_001272050.1:c.*3519T>C, NM_001271934.2:c.*3519T>C, NM_001271934.1:c.*3519T>C, NM_001172645.2:c.*3519T>C, NM_001172645.1:c.*3519T>C, NM_001172644.2:c.*3519T>C, NM_001172644.1:c.*3519T>C, NM_001172643.1:c.*3519T>C, NM_001271935.1:c.*3614T>C, NR_073521.1:n.4442T>C

Select item 148333923416.

rs1483339234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66509102 (GRCh38)
16:66543005 (GRCh37)
Canonical SPDI:: NC_000016.10:66509101:G:A
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66509102G>A, NC_000016.9:g.66543005G>A, NG_016862.1:g.46311C>T, NM_004614.5:c.*2866C>T, NM_004614.4:c.*2866C>T, NR_073520.2:n.4653C>T, NR_073520.1:n.4943C>T, NM_001272050.2:c.*2866C>T, NM_001272050.1:c.*2866C>T, NM_001271934.2:c.*2866C>T, NM_001271934.1:c.*2866C>T, NM_001172645.2:c.*2866C>T, NM_001172645.1:c.*2866C>T, NM_001172644.2:c.*2866C>T, NM_001172644.1:c.*2866C>T, NM_001172643.1:c.*2866C>T, NM_001271935.1:c.*2961C>T, NR_073521.1:n.3789C>T

Select item 148276137617.

rs1482761376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66511906 (GRCh38)
16:66545809 (GRCh37)
Canonical SPDI:: NC_000016.10:66511905:C:T
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000016.10:g.66511906C>T, NC_000016.9:g.66545809C>T, NG_016862.1:g.43507G>A, NM_004614.5:c.*62G>A, NM_004614.4:c.*62G>A, NR_073520.2:n.1849G>A, NR_073520.1:n.2139G>A, NM_001272050.2:c.*62G>A, NM_001272050.1:c.*62G>A, NM_001271934.2:c.*62G>A, NM_001271934.1:c.*62G>A, NM_001172645.2:c.*62G>A, NM_001172645.1:c.*62G>A, NM_001172644.2:c.*62G>A, NM_001172644.1:c.*62G>A, NM_001172643.1:c.*62G>A, NM_001271935.1:c.*157G>A, NR_073521.1:n.985G>A

Select item 148205330918.

rs1482053309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:66511559 (GRCh38)
16:66545462 (GRCh37)
Canonical SPDI:: NC_000016.10:66511558:T:G
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66511559T>G, NC_000016.9:g.66545462T>G, NG_016862.1:g.43854A>C, NM_004614.5:c.*409A>C, NM_004614.4:c.*409A>C, NR_073520.2:n.2196A>C, NR_073520.1:n.2486A>C, NM_001272050.2:c.*409A>C, NM_001272050.1:c.*409A>C, NM_001271934.2:c.*409A>C, NM_001271934.1:c.*409A>C, NM_001172645.2:c.*409A>C, NM_001172645.1:c.*409A>C, NM_001172644.2:c.*409A>C, NM_001172644.1:c.*409A>C, NM_001172643.1:c.*409A>C, NM_001271935.1:c.*504A>C, NR_073521.1:n.1332A>C

Select item 147978099619.

rs1479780996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66510280 (GRCh38)
16:66544183 (GRCh37)
Canonical SPDI:: NC_000016.10:66510279:G:A
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.66510280G>A, NC_000016.9:g.66544183G>A, NG_016862.1:g.45133C>T, NM_004614.5:c.*1688C>T, NM_004614.4:c.*1688C>T, NR_073520.2:n.3475C>T, NR_073520.1:n.3765C>T, NM_001272050.2:c.*1688C>T, NM_001272050.1:c.*1688C>T, NM_001271934.2:c.*1688C>T, NM_001271934.1:c.*1688C>T, NM_001172645.2:c.*1688C>T, NM_001172645.1:c.*1688C>T, NM_001172644.2:c.*1688C>T, NM_001172644.1:c.*1688C>T, NM_001172643.1:c.*1688C>T, NM_001271935.1:c.*1783C>T, NR_073521.1:n.2611C>T

Select item 147889745420.

rs1478897454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66511298 (GRCh38)
16:66545201 (GRCh37)
Canonical SPDI:: NC_000016.10:66511297:G:A
Gene:: TK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.66511298G>A, NC_000016.9:g.66545201G>A, NG_016862.1:g.44115C>T, NM_004614.5:c.*670C>T, NM_004614.4:c.*670C>T, NR_073520.2:n.2457C>T, NR_073520.1:n.2747C>T, NM_001272050.2:c.*670C>T, NM_001272050.1:c.*670C>T, NM_001271934.2:c.*670C>T, NM_001271934.1:c.*670C>T, NM_001172645.2:c.*670C>T, NM_001172645.1:c.*670C>T, NM_001172644.2:c.*670C>T, NM_001172644.1:c.*670C>T, NM_001172643.1:c.*670C>T, NM_001271935.1:c.*765C>T, NR_073521.1:n.1593C>T

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