SNP Links for Protein (Select 38788319) - SNP

Links from Protein

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Select item 14880144901.

rs1488014490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30555679 (GRCh38)
6:30523456 (GRCh37)
Canonical SPDI:: NC_000006.12:30555678:C:T
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30555679C>T, NC_000006.11:g.30523456C>T, NT_113891.3:g.2035399C>T, NT_113891.2:g.2035505C>T, NT_167248.2:g.1810764C>T, NT_167248.1:g.1816360C>T, NT_167245.2:g.1811503C>T, NT_167245.1:g.1817088C>T, NT_167249.2:g.1856434C>T, NT_167249.1:g.1855732C>T, NT_167246.2:g.1865908C>T, NT_167246.1:g.1871528C>T, NT_167247.2:g.1899725C>T, NT_167247.1:g.1905310C>T, NM_005275.5:c.115G>A, NM_005275.4:c.115G>A, NM_005275.3:c.115G>A, NP_005266.2:p.Gly39Arg

Select item 14878917072.

rs1487891707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30546159 (GRCh38)
6:30513936 (GRCh37)
Canonical SPDI:: NC_000006.12:30546158:T:C
Gene:: GNL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30546159T>C, NC_000006.11:g.30513936T>C, NT_113891.3:g.2025878T>C, NT_113891.2:g.2025984T>C, NT_167248.2:g.1801243T>C, NT_167248.1:g.1806839T>C, NT_167245.2:g.1801982T>C, NT_167245.1:g.1807567T>C, NT_167249.2:g.1846915T>C, NT_167249.1:g.1846213T>C, NT_167246.2:g.1856388T>C, NT_167246.1:g.1862008T>C, NT_167247.2:g.1890205T>C, NT_167247.1:g.1895790T>C, NT_167244.2:g.1875663T>C, NT_167244.1:g.1825579T>C, NM_005275.5:c.1737A>G, NM_005275.4:c.1737A>G, NM_005275.3:c.1737A>G

Select item 14872632063.

rs1487263206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30556188 (GRCh38)
6:30523965 (GRCh37)
Canonical SPDI:: NC_000006.12:30556187:G:C
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.30556188G>C, NC_000006.11:g.30523965G>C, NT_113891.3:g.2035908G>C, NT_113891.2:g.2036014G>C, NT_167248.2:g.1811273G>C, NT_167248.1:g.1816869G>C, NT_167245.2:g.1812012G>C, NT_167245.1:g.1817597G>C, NT_167249.2:g.1856943G>C, NT_167249.1:g.1856241G>C, NT_167246.2:g.1866417G>C, NT_167246.1:g.1872037G>C, NT_167247.2:g.1900234G>C, NT_167247.1:g.1905819G>C, NM_005275.5:c.16C>G, NM_005275.4:c.16C>G, NM_005275.3:c.16C>G, NP_005266.2:p.Pro6Ala

Select item 14871391294.

rs1487139129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30546099 (GRCh38)
6:30513876 (GRCh37)
Canonical SPDI:: NC_000006.12:30546098:A:G
Gene:: GNL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30546099A>G, NC_000006.11:g.30513876A>G, NT_113891.3:g.2025818A>G, NT_113891.2:g.2025924A>G, NT_167248.2:g.1801183A>G, NT_167248.1:g.1806779A>G, NT_167245.2:g.1801922A>G, NT_167245.1:g.1807507A>G, NT_167249.2:g.1846855A>G, NT_167249.1:g.1846153A>G, NT_167246.2:g.1856328A>G, NT_167246.1:g.1861948A>G, NT_167247.2:g.1890145A>G, NT_167247.1:g.1895730A>G, NT_167244.2:g.1875603A>G, NT_167244.1:g.1825519A>G, NM_005275.5:c.1797T>C, NM_005275.4:c.1797T>C, NM_005275.3:c.1797T>C

Select item 14861592845.

rs1486159284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30546782 (GRCh38)
6:30514559 (GRCh37)
Canonical SPDI:: NC_000006.12:30546781:T:C
Gene:: GNL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000006.12:g.30546782T>C, NC_000006.11:g.30514559T>C, NT_113891.3:g.2026501T>C, NT_113891.2:g.2026607T>C, NT_167248.2:g.1801866T>C, NT_167248.1:g.1807462T>C, NT_167245.2:g.1802605T>C, NT_167245.1:g.1808190T>C, NT_167249.2:g.1847538T>C, NT_167249.1:g.1846836T>C, NT_167246.2:g.1857011T>C, NT_167246.1:g.1862631T>C, NT_167247.2:g.1890828T>C, NT_167247.1:g.1896413T>C, NT_167244.2:g.1876286T>C, NT_167244.1:g.1826202T>C, NM_005275.5:c.1496A>G, NM_005275.4:c.1496A>G, NM_005275.3:c.1496A>G, NP_005266.2:p.Tyr499Cys

Select item 14853745506.

rs1485374550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30547154 (GRCh38)
6:30514931 (GRCh37)
Canonical SPDI:: NC_000006.12:30547153:G:A
Gene:: GNL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.30547154G>A, NC_000006.11:g.30514931G>A, NT_113891.3:g.2026873G>A, NT_113891.2:g.2026979G>A, NT_167248.2:g.1802238G>A, NT_167248.1:g.1807834G>A, NT_167245.2:g.1802977G>A, NT_167245.1:g.1808562G>A, NT_167249.2:g.1847910G>A, NT_167249.1:g.1847208G>A, NT_167246.2:g.1857383G>A, NT_167246.1:g.1863003G>A, NT_167247.2:g.1891200G>A, NT_167247.1:g.1896785G>A, NT_167244.2:g.1876658G>A, NT_167244.1:g.1826574G>A, NM_005275.5:c.1399C>T, NM_005275.4:c.1399C>T, NM_005275.3:c.1399C>T, NP_005266.2:p.Pro467Ser

Select item 14821987927.

rs1482198792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:30554638 (GRCh38)
6:30522415 (GRCh37)
Canonical SPDI:: NC_000006.12:30554637:C:A,NC_000006.12:30554637:C:T
Gene:: GNL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30554638C>A, NC_000006.12:g.30554638C>T, NC_000006.11:g.30522415C>A, NC_000006.11:g.30522415C>T, NT_113891.3:g.2034358C>A, NT_113891.3:g.2034358C>T, NT_113891.2:g.2034464C>A, NT_113891.2:g.2034464C>T, NT_167248.2:g.1809723C>A, NT_167248.2:g.1809723C>T, NT_167248.1:g.1815319C>A, NT_167248.1:g.1815319C>T, NT_167245.2:g.1810462C>A, NT_167245.2:g.1810462C>T, NT_167245.1:g.1816047C>A, NT_167245.1:g.1816047C>T, NT_167249.2:g.1855393C>A, NT_167249.2:g.1855393C>T, NT_167249.1:g.1854691C>A, NT_167249.1:g.1854691C>T, NT_167246.2:g.1864867C>A, NT_167246.2:g.1864867C>T, NT_167246.1:g.1870487C>A, NT_167246.1:g.1870487C>T, NT_167247.2:g.1898684C>A, NT_167247.2:g.1898684C>T, NT_167247.1:g.1904269C>A, NT_167247.1:g.1904269C>T, NM_005275.5:c.537G>T, NM_005275.5:c.537G>A, NM_005275.4:c.537G>T, NM_005275.4:c.537G>A, NM_005275.3:c.537G>T, NM_005275.3:c.537G>A, NP_005266.2:p.Arg179Ser

Select item 14790730378.

rs1479073037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30555611 (GRCh38)
6:30523388 (GRCh37)
Canonical SPDI:: NC_000006.12:30555610:G:C
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000006.12:g.30555611G>C, NC_000006.11:g.30523388G>C, NT_113891.3:g.2035331G>C, NT_113891.2:g.2035437G>C, NT_167248.2:g.1810696G>C, NT_167248.1:g.1816292G>C, NT_167245.2:g.1811435G>C, NT_167245.1:g.1817020G>C, NT_167249.2:g.1856366G>C, NT_167249.1:g.1855664G>C, NT_167246.2:g.1865840G>C, NT_167246.1:g.1871460G>C, NT_167247.2:g.1899657G>C, NT_167247.1:g.1905242G>C, NM_005275.5:c.183C>G, NM_005275.4:c.183C>G, NM_005275.3:c.183C>G

Select item 14703477229.

rs1470347722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30547205 (GRCh38)
6:30514982 (GRCh37)
Canonical SPDI:: NC_000006.12:30547204:G:A
Gene:: GNL1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30547205G>A, NC_000006.11:g.30514982G>A, NT_113891.3:g.2026924G>A, NT_113891.2:g.2027030G>A, NT_167248.2:g.1802289G>A, NT_167248.1:g.1807885G>A, NT_167245.2:g.1803028G>A, NT_167245.1:g.1808613G>A, NT_167249.2:g.1847961G>A, NT_167249.1:g.1847259G>A, NT_167246.2:g.1857434G>A, NT_167246.1:g.1863054G>A, NT_167247.2:g.1891251G>A, NT_167247.1:g.1896836G>A, NT_167244.2:g.1876709G>A, NT_167244.1:g.1826625G>A, NM_005275.5:c.1348C>T, NM_005275.4:c.1348C>T, NM_005275.3:c.1348C>T, NP_005266.2:p.Arg450Ter

Select item 146952963510.

rs1469529635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:30553091 (GRCh38)
6:30520868 (GRCh37)
Canonical SPDI:: NC_000006.12:30553090:C:A,NC_000006.12:30553090:C:T
Gene:: GNL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30553091C>A, NC_000006.12:g.30553091C>T, NC_000006.11:g.30520868C>A, NC_000006.11:g.30520868C>T, NT_113891.3:g.2032811C>A, NT_113891.3:g.2032811C>T, NT_113891.2:g.2032917C>A, NT_113891.2:g.2032917C>T, NT_167248.2:g.1808176C>A, NT_167248.2:g.1808176C>T, NT_167248.1:g.1813772C>A, NT_167248.1:g.1813772C>T, NT_167245.2:g.1808915C>A, NT_167245.2:g.1808915C>T, NT_167245.1:g.1814500C>A, NT_167245.1:g.1814500C>T, NT_167249.2:g.1853848C>A, NT_167249.2:g.1853848C>T, NT_167249.1:g.1853146C>A, NT_167249.1:g.1853146C>T, NT_167246.2:g.1863320C>A, NT_167246.2:g.1863320C>T, NT_167246.1:g.1868940C>A, NT_167246.1:g.1868940C>T, NT_167247.2:g.1897137C>A, NT_167247.2:g.1897137C>T, NT_167247.1:g.1902722C>A, NT_167247.1:g.1902722C>T, NT_167244.2:g.1882596C>A, NT_167244.2:g.1882596C>T, NT_167244.1:g.1832512C>A, NT_167244.1:g.1832512C>T, NM_005275.5:c.897G>T, NM_005275.5:c.897G>A, NM_005275.4:c.897G>T, NM_005275.4:c.897G>A, NM_005275.3:c.897G>T, NM_005275.3:c.897G>A

Select item 146796271511.

rs1467962715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30553538 (GRCh38)
6:30521315 (GRCh37)
Canonical SPDI:: NC_000006.12:30553537:G:T
Gene:: GNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30553538G>T, NC_000006.11:g.30521315G>T, NT_113891.3:g.2033258G>T, NT_113891.2:g.2033364G>T, NT_167248.2:g.1808623G>T, NT_167248.1:g.1814219G>T, NT_167245.2:g.1809362G>T, NT_167245.1:g.1814947G>T, NT_167249.2:g.1854293G>T, NT_167249.1:g.1853591G>T, NT_167246.2:g.1863767G>T, NT_167246.1:g.1869387G>T, NT_167247.2:g.1897584G>T, NT_167247.1:g.1903169G>T, NT_167244.2:g.1883043G>T, NT_167244.1:g.1832959G>T, NM_005275.5:c.620C>A, NM_005275.4:c.620C>A, NM_005275.3:c.620C>A, NP_005266.2:p.Ala207Glu

Select item 146795110812.

rs1467951108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30552559 (GRCh38)
6:30520336 (GRCh37)
Canonical SPDI:: NC_000006.12:30552558:A:C
Gene:: GNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.30552559A>C, NC_000006.11:g.30520336A>C, NT_113891.3:g.2032279A>C, NT_113891.2:g.2032385A>C, NT_167248.2:g.1807644A>C, NT_167248.1:g.1813240A>C, NT_167245.2:g.1808383A>C, NT_167245.1:g.1813968A>C, NT_167249.2:g.1853316A>C, NT_167249.1:g.1852614A>C, NT_167246.2:g.1862788A>C, NT_167246.1:g.1868408A>C, NT_167247.2:g.1896605A>C, NT_167247.1:g.1902190A>C, NT_167244.2:g.1882064A>C, NT_167244.1:g.1831980A>C, NM_005275.5:c.1007T>G, NM_005275.4:c.1007T>G, NM_005275.3:c.1007T>G, NP_005266.2:p.Val336Gly

Select item 146481960613.

rs1464819606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:30546734 (GRCh38)
6:30514511 (GRCh37)
Canonical SPDI:: NC_000006.12:30546733:C:G
Gene:: GNL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30546734C>G, NC_000006.11:g.30514511C>G, NT_113891.3:g.2026453C>G, NT_113891.2:g.2026559C>G, NT_167248.2:g.1801818C>G, NT_167248.1:g.1807414C>G, NT_167245.2:g.1802557C>G, NT_167245.1:g.1808142C>G, NT_167249.2:g.1847490C>G, NT_167249.1:g.1846788C>G, NT_167246.2:g.1856963C>G, NT_167246.1:g.1862583C>G, NT_167247.2:g.1890780C>G, NT_167247.1:g.1896365C>G, NT_167244.2:g.1876238C>G, NT_167244.1:g.1826154C>G, NM_005275.5:c.1544G>C, NM_005275.4:c.1544G>C, NM_005275.3:c.1544G>C, NP_005266.2:p.Ser515Thr

Select item 146252158914.

rs1462521589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30547210 (GRCh38)
6:30514987 (GRCh37)
Canonical SPDI:: NC_000006.12:30547209:G:A
Gene:: GNL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30547210G>A, NC_000006.11:g.30514987G>A, NT_113891.3:g.2026929G>A, NT_113891.2:g.2027035G>A, NT_167248.2:g.1802294G>A, NT_167248.1:g.1807890G>A, NT_167245.2:g.1803033G>A, NT_167245.1:g.1808618G>A, NT_167249.2:g.1847966G>A, NT_167249.1:g.1847264G>A, NT_167246.2:g.1857439G>A, NT_167246.1:g.1863059G>A, NT_167247.2:g.1891256G>A, NT_167247.1:g.1896841G>A, NT_167244.2:g.1876714G>A, NT_167244.1:g.1826630G>A, NM_005275.5:c.1343C>T, NM_005275.4:c.1343C>T, NM_005275.3:c.1343C>T, NP_005266.2:p.Ala448Val

Select item 145604717515.

rs1456047175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30555617 (GRCh38)
6:30523394 (GRCh37)
Canonical SPDI:: NC_000006.12:30555616:A:G
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.30555617A>G, NC_000006.11:g.30523394A>G, NT_113891.3:g.2035337A>G, NT_113891.2:g.2035443A>G, NT_167248.2:g.1810702A>G, NT_167248.1:g.1816298A>G, NT_167245.2:g.1811441A>G, NT_167245.1:g.1817026A>G, NT_167249.2:g.1856372A>G, NT_167249.1:g.1855670A>G, NT_167246.2:g.1865846A>G, NT_167246.1:g.1871466A>G, NT_167247.2:g.1899663A>G, NT_167247.1:g.1905248A>G, NM_005275.5:c.177T>C, NM_005275.4:c.177T>C, NM_005275.3:c.177T>C

Select item 145570029916.

rs1455700299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30555561 (GRCh38)
6:30523338 (GRCh37)
Canonical SPDI:: NC_000006.12:30555560:G:C
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30555561G>C, NC_000006.11:g.30523338G>C, NT_113891.3:g.2035281G>C, NT_113891.2:g.2035387G>C, NT_167248.2:g.1810646G>C, NT_167248.1:g.1816242G>C, NT_167245.2:g.1811385G>C, NT_167245.1:g.1816970G>C, NT_167249.2:g.1856316G>C, NT_167249.1:g.1855614G>C, NT_167246.2:g.1865790G>C, NT_167246.1:g.1871410G>C, NT_167247.2:g.1899607G>C, NT_167247.1:g.1905192G>C, NM_005275.5:c.233C>G, NM_005275.4:c.233C>G, NM_005275.3:c.233C>G, NP_005266.2:p.Pro78Arg

Select item 145506933417.

rs1455069334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30555108 (GRCh38)
6:30522885 (GRCh37)
Canonical SPDI:: NC_000006.12:30555107:A:G
Gene:: GNL1 (Varview), PRR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30555108A>G, NC_000006.11:g.30522885A>G, NT_113891.3:g.2034828A>G, NT_113891.2:g.2034934A>G, NT_167248.2:g.1810193A>G, NT_167248.1:g.1815789A>G, NT_167245.2:g.1810932A>G, NT_167245.1:g.1816517A>G, NT_167249.2:g.1855863A>G, NT_167249.1:g.1855161A>G, NT_167246.2:g.1865337A>G, NT_167246.1:g.1870957A>G, NT_167247.2:g.1899154A>G, NT_167247.1:g.1904739A>G, NM_005275.5:c.323T>C, NM_005275.4:c.323T>C, NM_005275.3:c.323T>C, NP_005266.2:p.Val108Ala

Select item 145103451818.

rs1451034518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:30547472 (GRCh38)
6:30515249 (GRCh37)
Canonical SPDI:: NC_000006.12:30547471:C:A,NC_000006.12:30547471:C:T
Gene:: GNL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30547472C>A, NC_000006.12:g.30547472C>T, NC_000006.11:g.30515249C>A, NC_000006.11:g.30515249C>T, NT_113891.3:g.2027191C>A, NT_113891.3:g.2027191C>T, NT_113891.2:g.2027297C>A, NT_113891.2:g.2027297C>T, NT_167248.2:g.1802556C>A, NT_167248.2:g.1802556C>T, NT_167248.1:g.1808152C>A, NT_167248.1:g.1808152C>T, NT_167245.2:g.1803295C>A, NT_167245.2:g.1803295C>T, NT_167245.1:g.1808880C>A, NT_167245.1:g.1808880C>T, NT_167249.2:g.1848228C>A, NT_167249.2:g.1848228C>T, NT_167249.1:g.1847526C>A, NT_167249.1:g.1847526C>T, NT_167246.2:g.1857701C>A, NT_167246.2:g.1857701C>T, NT_167246.1:g.1863321C>A, NT_167246.1:g.1863321C>T, NT_167247.2:g.1891518C>A, NT_167247.2:g.1891518C>T, NT_167247.1:g.1897103C>A, NT_167247.1:g.1897103C>T, NT_167244.2:g.1876976C>A, NT_167244.2:g.1876976C>T, NT_167244.1:g.1826892C>A, NT_167244.1:g.1826892C>T, NM_005275.5:c.1158G>T, NM_005275.5:c.1158G>A, NM_005275.4:c.1158G>T, NM_005275.4:c.1158G>A, NM_005275.3:c.1158G>T, NM_005275.3:c.1158G>A

Select item 144798107119.

rs1447981071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30546304 (GRCh38)
6:30514081 (GRCh37)
Canonical SPDI:: NC_000006.12:30546303:T:G
Gene:: GNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30546304T>G, NC_000006.11:g.30514081T>G, NT_113891.3:g.2026023T>G, NT_113891.2:g.2026129T>G, NT_167248.2:g.1801388T>G, NT_167248.1:g.1806984T>G, NT_167245.2:g.1802127T>G, NT_167245.1:g.1807712T>G, NT_167249.2:g.1847060T>G, NT_167249.1:g.1846358T>G, NT_167246.2:g.1856533T>G, NT_167246.1:g.1862153T>G, NT_167247.2:g.1890350T>G, NT_167247.1:g.1895935T>G, NT_167244.2:g.1875808T>G, NT_167244.1:g.1825724T>G, NM_005275.5:c.1592A>C, NM_005275.4:c.1592A>C, NM_005275.3:c.1592A>C, NP_005266.2:p.Glu531Ala

Select item 144223989020.

rs1442239890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30553471 (GRCh38)
6:30521248 (GRCh37)
Canonical SPDI:: NC_000006.12:30553470:C:T
Gene:: GNL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30553471C>T, NC_000006.11:g.30521248C>T, NT_113891.3:g.2033191C>T, NT_113891.2:g.2033297C>T, NT_167248.2:g.1808556C>T, NT_167248.1:g.1814152C>T, NT_167245.2:g.1809295C>T, NT_167245.1:g.1814880C>T, NT_167249.2:g.1854226C>T, NT_167249.1:g.1853524C>T, NT_167246.2:g.1863700C>T, NT_167246.1:g.1869320C>T, NT_167247.2:g.1897517C>T, NT_167247.1:g.1903102C>T, NT_167244.2:g.1882976C>T, NT_167244.1:g.1832892C>T, NM_005275.5:c.687G>A, NM_005275.4:c.687G>A, NM_005275.3:c.687G>A

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