SNP Links for Nucleotide (Select 289547711) - SNP

Links from Nucleotide

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Select item 14909361321.

rs1490936132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:37699832 (GRCh38)
19:38190733 (GRCh37)
Canonical SPDI:: NC_000019.10:37699831:C:G,NC_000019.10:37699831:C:T
Gene:: ZNF607 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.37699832C>G, NC_000019.10:g.37699832C>T, NC_000019.9:g.38190733C>G, NC_000019.9:g.38190733C>T, NM_032689.5:c.299G>C, NM_032689.5:c.299G>A, NM_032689.4:c.299G>C, NM_032689.4:c.299G>A, XM_006723435.5:c.299G>C, XM_006723435.5:c.299G>A, XM_006723435.4:c.299G>C, XM_006723435.4:c.299G>A, XM_006723435.3:c.299G>C, XM_006723435.3:c.299G>A, XM_006723435.2:c.299G>C, XM_006723435.2:c.299G>A, XM_006723435.1:c.299G>C, XM_006723435.1:c.299G>A, NM_001375895.1:c.296G>C, NM_001375895.1:c.296G>A, XM_047439553.1:c.26G>C, XM_047439553.1:c.26G>A, NM_001172677.1:c.296G>C, NM_001172677.1:c.296G>A, XM_047439552.1:c.26G>C, XM_047439552.1:c.26G>A, NP_116078.4:p.Cys100Ser, NP_116078.4:p.Cys100Tyr, XP_006723498.1:p.Cys100Ser, XP_006723498.1:p.Cys100Tyr, NP_001362824.1:p.Cys99Ser, NP_001362824.1:p.Cys99Tyr, XP_047295509.1:p.Cys9Ser, XP_047295509.1:p.Cys9Tyr, NP_001166148.1:p.Cys99Ser, NP_001166148.1:p.Cys99Tyr, XP_047295508.1:p.Cys9Ser, XP_047295508.1:p.Cys9Tyr

Select item 14904231022.

rs1490423102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:37698697 (GRCh38)
19:38189598 (GRCh37)
Canonical SPDI:: NC_000019.10:37698696:T:C
Gene:: ZNF607 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.37698697T>C, NC_000019.9:g.38189598T>C, NM_032689.5:c.1434A>G, NM_032689.4:c.1434A>G, XM_006723435.5:c.1434A>G, XM_006723435.4:c.1434A>G, XM_006723435.3:c.1434A>G, XM_006723435.2:c.1434A>G, XM_006723435.1:c.1434A>G, NM_001375895.1:c.1431A>G, XM_047439553.1:c.1161A>G, NM_001172677.1:c.1431A>G, XM_047439552.1:c.1161A>G, NM_032841.1:c.459A>G

Select item 14886718233.

rs1488671823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:37699452 (GRCh38)
19:38190353 (GRCh37)
Canonical SPDI:: NC_000019.10:37699451:A:C
Gene:: ZNF607 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.37699452A>C, NC_000019.9:g.38190353A>C, NM_032689.5:c.679T>G, NM_032689.4:c.679T>G, XM_006723435.5:c.679T>G, XM_006723435.4:c.679T>G, XM_006723435.3:c.679T>G, XM_006723435.2:c.679T>G, XM_006723435.1:c.679T>G, NM_001375895.1:c.676T>G, XM_047439553.1:c.406T>G, NM_001172677.1:c.676T>G, XM_047439552.1:c.406T>G, NP_116078.4:p.Cys227Gly, XP_006723498.1:p.Cys227Gly, NP_001362824.1:p.Cys226Gly, XP_047295509.1:p.Cys136Gly, NP_001166148.1:p.Cys226Gly, XP_047295508.1:p.Cys136Gly

Select item 14874696274.

rs1487469627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37697061 (GRCh38)
19:38187962 (GRCh37)
Canonical SPDI:: NC_000019.10:37697060:G:A
Gene:: ZNF607 (Varview)
Functional Consequence:: 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_000019.10:g.37697061G>A, NC_000019.9:g.38187962G>A, NM_032689.5:c.*979C>T, NM_032689.4:c.*979C>T, XM_006723435.5:c.*979C>T, XM_006723435.4:c.*979C>T, XM_006723435.3:c.*979C>T, XM_006723435.2:c.*979C>T, XM_006723435.1:c.*979C>T, NM_001375895.1:c.*979C>T, XM_047439553.1:c.*979C>T, NM_001172677.1:c.*979C>T, XM_047439552.1:c.*979C>T, NM_032841.1:c.*979C>T

Select item 14872017425.

rs1487201742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:37696973 (GRCh38)
19:38187874 (GRCh37)
Canonical SPDI:: NC_000019.10:37696972:C:T
Gene:: ZNF607 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.37696973C>T, NC_000019.9:g.38187874C>T, NM_032689.5:c.*1067G>A, NM_032689.4:c.*1067G>A, XM_006723435.5:c.*1067G>A, XM_006723435.4:c.*1067G>A, XM_006723435.3:c.*1067G>A, XM_006723435.2:c.*1067G>A, XM_006723435.1:c.*1067G>A, NM_001375895.1:c.*1067G>A, XM_047439553.1:c.*1067G>A, NM_001172677.1:c.*1067G>A, XM_047439552.1:c.*1067G>A, NM_032841.1:c.*1067G>A

Select item 14860305276.

rs1486030527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:37697533 (GRCh38)
19:38188434 (GRCh37)
Canonical SPDI:: NC_000019.10:37697532:A:G
Gene:: ZNF607 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37697533A>G, NC_000019.9:g.38188434A>G, NM_032689.5:c.*507T>C, NM_032689.4:c.*507T>C, XM_006723435.5:c.*507T>C, XM_006723435.4:c.*507T>C, XM_006723435.3:c.*507T>C, XM_006723435.2:c.*507T>C, XM_006723435.1:c.*507T>C, NM_001375895.1:c.*507T>C, XM_047439553.1:c.*507T>C, NM_001172677.1:c.*507T>C, XM_047439552.1:c.*507T>C, NM_032841.1:c.*507T>C

Select item 14857587707.

rs1485758770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37711635 (GRCh38)
19:38202536 (GRCh37)
Canonical SPDI:: NC_000019.10:37711634:G:A
Gene:: ZNF607 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37711635G>A, NC_000019.9:g.38202536G>A, NM_032689.5:c.-17C>T, NM_032689.4:c.-17C>T, XM_006723435.5:c.-17C>T, XM_006723435.4:c.-17C>T, XM_006723435.3:c.-17C>T, XM_006723435.2:c.-17C>T, XM_006723435.1:c.-17C>T, NM_001375895.1:c.-17C>T, NM_001172677.1:c.-17C>T

Select item 14854355998.

rs1485435599 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:37707924 (GRCh38)
19:38198825 (GRCh37)
Canonical SPDI:: NC_000019.10:37707923:T:
Gene:: ZNF607 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.37707924del, NC_000019.9:g.38198825del, NM_032689.5:c.225del, NM_032689.4:c.225del, XM_006723435.5:c.225del, XM_006723435.4:c.225del, XM_006723435.3:c.225del, XM_006723435.2:c.225del, XM_006723435.1:c.225del, NM_001375895.1:c.222del, NM_001172677.1:c.222del, NP_116078.4:p.Glu76fs, XP_006723498.1:p.Glu76fs, NP_001362824.1:p.Glu75fs, NP_001166148.1:p.Glu75fs

Select item 14853809769.

rs1485380976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:37698050 (GRCh38)
19:38188951 (GRCh37)
Canonical SPDI:: NC_000019.10:37698049:A:G
Gene:: ZNF607 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.37698050A>G, NC_000019.9:g.38188951A>G, NM_032689.5:c.2081T>C, NM_032689.4:c.2081T>C, XM_006723435.5:c.2081T>C, XM_006723435.4:c.2081T>C, XM_006723435.3:c.2081T>C, XM_006723435.2:c.2081T>C, XM_006723435.1:c.2081T>C, NM_001375895.1:c.2078T>C, XM_047439553.1:c.1808T>C, NM_001172677.1:c.2078T>C, XM_047439552.1:c.1808T>C, NM_032841.1:c.1106T>C, NP_116078.4:p.Ile694Thr, XP_006723498.1:p.Ile694Thr, NP_001362824.1:p.Ile693Thr, XP_047295509.1:p.Ile603Thr, NP_001166148.1:p.Ile693Thr, XP_047295508.1:p.Ile603Thr

Select item 148422141010.

rs1484221410 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GA [Show Flanks]
Chromosome:: 19:37696723 (GRCh38)
19:38187625 (GRCh37)
Canonical SPDI:: NC_000019.10:37696723::G,NC_000019.10:37696723::GA
Gene:: ZNF607 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GA=0./0 (ALFA)
G=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.37696723_37696724insG, NC_000019.10:g.37696723_37696724insGA, NC_000019.9:g.38187624_38187625insG, NC_000019.9:g.38187624_38187625insGA, NM_032689.5:c.*1316_*1317insC, NM_032689.5:c.*1316_*1317insTC, NM_032689.4:c.*1316_*1317insC, NM_032689.4:c.*1316_*1317insTC, XM_006723435.5:c.*1316_*1317insC, XM_006723435.5:c.*1316_*1317insTC, XM_006723435.4:c.*1316_*1317insC, XM_006723435.4:c.*1316_*1317insTC, XM_006723435.3:c.*1316_*1317insC, XM_006723435.3:c.*1316_*1317insTC, XM_006723435.2:c.*1316_*1317insC, XM_006723435.2:c.*1316_*1317insTC, XM_006723435.1:c.*1316_*1317insC, XM_006723435.1:c.*1316_*1317insTC, NM_001375895.1:c.*1316_*1317insC, NM_001375895.1:c.*1316_*1317insTC, XM_047439553.1:c.*1316_*1317insC, XM_047439553.1:c.*1316_*1317insTC, NM_001172677.1:c.*1316_*1317insC, NM_001172677.1:c.*1316_*1317insTC, XM_047439552.1:c.*1316_*1317insC, XM_047439552.1:c.*1316_*1317insTC, NM_032841.1:c.*1316_*1317insC, NM_032841.1:c.*1316_*1317insTC

Select item 148392840411.

rs1483928404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:37707963 (GRCh38)
19:38198864 (GRCh37)
Canonical SPDI:: NC_000019.10:37707962:T:C
Gene:: ZNF607 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.37707963T>C, NC_000019.9:g.38198864T>C, NM_032689.5:c.186A>G, NM_032689.4:c.186A>G, XM_006723435.5:c.186A>G, XM_006723435.4:c.186A>G, XM_006723435.3:c.186A>G, XM_006723435.2:c.186A>G, XM_006723435.1:c.186A>G, NM_001375895.1:c.183A>G, NM_001172677.1:c.183A>G

Select item 148271366512.

rs1482713665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37698245 (GRCh38)
19:38189146 (GRCh37)
Canonical SPDI:: NC_000019.10:37698244:G:A
Gene:: ZNF607 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.37698245G>A, NC_000019.9:g.38189146G>A, NM_032689.5:c.1886C>T, NM_032689.4:c.1886C>T, XM_006723435.5:c.1886C>T, XM_006723435.4:c.1886C>T, XM_006723435.3:c.1886C>T, XM_006723435.2:c.1886C>T, XM_006723435.1:c.1886C>T, NM_001375895.1:c.1883C>T, XM_047439553.1:c.1613C>T, NM_001172677.1:c.1883C>T, XM_047439552.1:c.1613C>T, NM_032841.1:c.911C>T, NP_116078.4:p.Ala629Val, XP_006723498.1:p.Ala629Val, NP_001362824.1:p.Ala628Val, XP_047295509.1:p.Ala538Val, NP_001166148.1:p.Ala628Val, XP_047295508.1:p.Ala538Val

Select item 148199334413.

rs1481993344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:37697727 (GRCh38)
19:38188628 (GRCh37)
Canonical SPDI:: NC_000019.10:37697726:A:C
Gene:: ZNF607 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.37697727A>C, NC_000019.9:g.38188628A>C, NM_032689.5:c.*313T>G, NM_032689.4:c.*313T>G, XM_006723435.5:c.*313T>G, XM_006723435.4:c.*313T>G, XM_006723435.3:c.*313T>G, XM_006723435.2:c.*313T>G, XM_006723435.1:c.*313T>G, NM_001375895.1:c.*313T>G, XM_047439553.1:c.*313T>G, NM_001172677.1:c.*313T>G, XM_047439552.1:c.*313T>G, NM_032841.1:c.*313T>G

Select item 148027121114.

rs1480271211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:37699399 (GRCh38)
19:38190300 (GRCh37)
Canonical SPDI:: NC_000019.10:37699398:C:T
Gene:: ZNF607 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.37699399C>T, NC_000019.9:g.38190300C>T, NM_032689.5:c.732G>A, NM_032689.4:c.732G>A, XM_006723435.5:c.732G>A, XM_006723435.4:c.732G>A, XM_006723435.3:c.732G>A, XM_006723435.2:c.732G>A, XM_006723435.1:c.732G>A, NM_001375895.1:c.729G>A, XM_047439553.1:c.459G>A, NM_001172677.1:c.729G>A, XM_047439552.1:c.459G>A

Select item 148025735615.

rs1480257356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:37698258 (GRCh38)
19:38189159 (GRCh37)
Canonical SPDI:: NC_000019.10:37698257:C:T
Gene:: ZNF607 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.37698258C>T, NC_000019.9:g.38189159C>T, NM_032689.5:c.1873G>A, NM_032689.4:c.1873G>A, XM_006723435.5:c.1873G>A, XM_006723435.4:c.1873G>A, XM_006723435.3:c.1873G>A, XM_006723435.2:c.1873G>A, XM_006723435.1:c.1873G>A, NM_001375895.1:c.1870G>A, XM_047439553.1:c.1600G>A, NM_001172677.1:c.1870G>A, XM_047439552.1:c.1600G>A, NM_032841.1:c.898G>A, NP_116078.4:p.Ala625Thr, XP_006723498.1:p.Ala625Thr, NP_001362824.1:p.Ala624Thr, XP_047295509.1:p.Ala534Thr, NP_001166148.1:p.Ala624Thr, XP_047295508.1:p.Ala534Thr

Select item 147954252516.

rs1479542525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:37696432 (GRCh38)
19:38187333 (GRCh37)
Canonical SPDI:: NC_000019.10:37696431:T:C
Gene:: ZNF607 (Varview)
Functional Consequence:: 3_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_000019.10:g.37696432T>C, NC_000019.9:g.38187333T>C, NM_032689.5:c.*1608A>G, NM_032689.4:c.*1608A>G, XM_006723435.5:c.*1608A>G, XM_006723435.4:c.*1608A>G, XM_006723435.3:c.*1608A>G, XM_006723435.2:c.*1608A>G, XM_006723435.1:c.*1608A>G, NM_001375895.1:c.*1608A>G, XM_047439553.1:c.*1608A>G, NM_001172677.1:c.*1608A>G, XM_047439552.1:c.*1608A>G, NM_032841.1:c.*1608A>G

Select item 147927640517.

rs1479276405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:37698494 (GRCh38)
19:38189395 (GRCh37)
Canonical SPDI:: NC_000019.10:37698493:G:A,NC_000019.10:37698493:G:T
Gene:: ZNF607 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37698494G>A, NC_000019.10:g.37698494G>T, NC_000019.9:g.38189395G>A, NC_000019.9:g.38189395G>T, NM_032689.5:c.1637C>T, NM_032689.5:c.1637C>A, NM_032689.4:c.1637C>T, NM_032689.4:c.1637C>A, XM_006723435.5:c.1637C>T, XM_006723435.5:c.1637C>A, XM_006723435.4:c.1637C>T, XM_006723435.4:c.1637C>A, XM_006723435.3:c.1637C>T, XM_006723435.3:c.1637C>A, XM_006723435.2:c.1637C>T, XM_006723435.2:c.1637C>A, XM_006723435.1:c.1637C>T, XM_006723435.1:c.1637C>A, NM_001375895.1:c.1634C>T, NM_001375895.1:c.1634C>A, XM_047439553.1:c.1364C>T, XM_047439553.1:c.1364C>A, NM_001172677.1:c.1634C>T, NM_001172677.1:c.1634C>A, XM_047439552.1:c.1364C>T, XM_047439552.1:c.1364C>A, NM_032841.1:c.662C>T, NM_032841.1:c.662C>A, NP_116078.4:p.Ser546Phe, NP_116078.4:p.Ser546Tyr, XP_006723498.1:p.Ser546Phe, XP_006723498.1:p.Ser546Tyr, NP_001362824.1:p.Ser545Phe, NP_001362824.1:p.Ser545Tyr, XP_047295509.1:p.Ser455Phe, XP_047295509.1:p.Ser455Tyr, NP_001166148.1:p.Ser545Phe, NP_001166148.1:p.Ser545Tyr, XP_047295508.1:p.Ser455Phe, XP_047295508.1:p.Ser455Tyr

Select item 147838133218.

rs1478381332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37698089 (GRCh38)
19:38188990 (GRCh37)
Canonical SPDI:: NC_000019.10:37698088:G:A
Gene:: ZNF607 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37698089G>A, NC_000019.9:g.38188990G>A, NM_032689.5:c.2042C>T, NM_032689.4:c.2042C>T, XM_006723435.5:c.2042C>T, XM_006723435.4:c.2042C>T, XM_006723435.3:c.2042C>T, XM_006723435.2:c.2042C>T, XM_006723435.1:c.2042C>T, NM_001375895.1:c.2039C>T, XM_047439553.1:c.1769C>T, NM_001172677.1:c.2039C>T, XM_047439552.1:c.1769C>T, NM_032841.1:c.1067C>T, NP_116078.4:p.Ser681Phe, XP_006723498.1:p.Ser681Phe, NP_001362824.1:p.Ser680Phe, XP_047295509.1:p.Ser590Phe, NP_001166148.1:p.Ser680Phe, XP_047295508.1:p.Ser590Phe

Select item 147836801219.

rs1478368012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37698300 (GRCh38)
19:38189201 (GRCh37)
Canonical SPDI:: NC_000019.10:37698299:G:A
Gene:: ZNF607 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37698300G>A, NC_000019.9:g.38189201G>A, NM_032689.5:c.1831C>T, NM_032689.4:c.1831C>T, XM_006723435.5:c.1831C>T, XM_006723435.4:c.1831C>T, XM_006723435.3:c.1831C>T, XM_006723435.2:c.1831C>T, XM_006723435.1:c.1831C>T, NM_001375895.1:c.1828C>T, XM_047439553.1:c.1558C>T, NM_001172677.1:c.1828C>T, XM_047439552.1:c.1558C>T, NM_032841.1:c.856C>T, NP_116078.4:p.His611Tyr, XP_006723498.1:p.His611Tyr, NP_001362824.1:p.His610Tyr, XP_047295509.1:p.His520Tyr, NP_001166148.1:p.His610Tyr, XP_047295508.1:p.His520Tyr

Select item 147669058720.

rs1476690587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 19:37719154 (GRCh38)
19:38210055 (GRCh37)
Canonical SPDI:: NC_000019.10:37719153:A:C,NC_000019.10:37719153:A:G,NC_000019.10:37719153:A:T
Gene:: ZNF607 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.37719154A>C, NC_000019.10:g.37719154A>G, NC_000019.10:g.37719154A>T, NC_000019.9:g.38210055A>C, NC_000019.9:g.38210055A>G, NC_000019.9:g.38210055A>T, XM_006723435.5:c.-214T>G, XM_006723435.5:c.-214T>C, XM_006723435.5:c.-214T>A, XM_006723435.4:c.-214T>G, XM_006723435.4:c.-214T>C, XM_006723435.4:c.-214T>A, XM_006723435.3:c.-214T>G, XM_006723435.3:c.-214T>C, XM_006723435.3:c.-214T>A, XM_006723435.2:c.-214T>G, XM_006723435.2:c.-214T>C, XM_006723435.2:c.-214T>A, XM_006723435.1:c.-214T>G, XM_006723435.1:c.-214T>C, XM_006723435.1:c.-214T>A, NM_001172677.1:c.-214T>G, NM_001172677.1:c.-214T>C, NM_001172677.1:c.-214T>A, XM_047439552.1:c.-178T>G, XM_047439552.1:c.-178T>C, XM_047439552.1:c.-178T>A

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