SNP Links for Protein (Select 40217799) - SNP

Links from Protein

Items: 1 to 20 of 793

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Select item 14904206211.

rs1490420621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:122959399 (GRCh38)
11:122830107 (GRCh37)
Canonical SPDI:: NC_000011.10:122959398:G:A
Gene:: JHY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000011.10:g.122959399G>A, NC_000011.9:g.122830107G>A, NM_024806.4:c.2291G>A, NM_024806.3:c.2291G>A, NM_001363089.2:c.2291G>A, NM_001363089.1:c.2291G>A, NM_001363087.2:c.2210G>A, NM_001363087.1:c.2210G>A, NM_001363088.2:c.2177G>A, NM_001363088.1:c.2177G>A, NP_079082.2:p.Arg764Lys, NP_001350018.1:p.Arg764Lys, NP_001350016.1:p.Arg737Lys, NP_001350017.1:p.Arg726Lys

Select item 14878934942.

rs1487893494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:122934947 (GRCh38)
11:122805655 (GRCh37)
Canonical SPDI:: NC_000011.10:122934946:A:T
Gene:: JHY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122934947A>T, NC_000011.9:g.122805655A>T, NM_024806.4:c.1506A>T, NM_024806.3:c.1506A>T, NM_001363089.2:c.1506A>T, NM_001363089.1:c.1506A>T, NM_001363087.2:c.1506A>T, NM_001363087.1:c.1506A>T, NM_001363088.2:c.1392A>T, NM_001363088.1:c.1392A>T, NP_079082.2:p.Arg502Ser, NP_001350018.1:p.Arg502Ser, NP_001350016.1:p.Arg502Ser, NP_001350017.1:p.Arg464Ser

Select item 14863583753.

rs1486358375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122885948 (GRCh38)
11:122756656 (GRCh37)
Canonical SPDI:: NC_000011.10:122885947:A:G
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.122885948A>G, NC_000011.9:g.122756656A>G, NM_024806.4:c.99A>G, NM_024806.3:c.99A>G, NM_199124.3:c.99A>G, NM_199124.2:c.99A>G, NM_001363089.2:c.99A>G, NM_001363089.1:c.99A>G, NM_001363087.2:c.99A>G, NM_001363087.1:c.99A>G, NM_001363088.2:c.99A>G, NM_001363088.1:c.99A>G

Select item 14863369684.

rs1486336968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122946565 (GRCh38)
11:122817273 (GRCh37)
Canonical SPDI:: NC_000011.10:122946564:A:G
Gene:: JHY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.122946565A>G, NC_000011.9:g.122817273A>G, NM_024806.4:c.1702A>G, NM_024806.3:c.1702A>G, NM_001363089.2:c.1702A>G, NM_001363089.1:c.1702A>G, NM_001363087.2:c.1702A>G, NM_001363087.1:c.1702A>G, NM_001363088.2:c.1588A>G, NM_001363088.1:c.1588A>G, NP_079082.2:p.Met568Val, NP_001350018.1:p.Met568Val, NP_001350016.1:p.Met568Val, NP_001350017.1:p.Met530Val

Select item 14842962945.

rs1484296294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122903934 (GRCh38)
11:122774642 (GRCh37)
Canonical SPDI:: NC_000011.10:122903933:A:G
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.122903934A>G, NC_000011.9:g.122774642A>G, NM_024806.4:c.354A>G, NM_024806.3:c.354A>G, NM_199124.3:c.354A>G, NM_199124.2:c.354A>G, NM_001363089.2:c.354A>G, NM_001363089.1:c.354A>G, NM_001363087.2:c.354A>G, NM_001363087.1:c.354A>G, NM_001363088.2:c.354A>G, NM_001363088.1:c.354A>G

Select item 14829639626.

rs1482963962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:122904354 (GRCh38)
11:122775062 (GRCh37)
Canonical SPDI:: NC_000011.10:122904353:A:T
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122904354A>T, NC_000011.9:g.122775062A>T, NM_024806.4:c.774A>T, NM_024806.3:c.774A>T, NM_199124.3:c.774A>T, NM_199124.2:c.774A>T, NM_001363089.2:c.774A>T, NM_001363089.1:c.774A>T, NM_001363087.2:c.774A>T, NM_001363087.1:c.774A>T, NM_001363088.2:c.774A>T, NM_001363088.1:c.774A>T, NP_079082.2:p.Lys258Asn, NP_954575.1:p.Lys258Asn, NP_001350018.1:p.Lys258Asn, NP_001350016.1:p.Lys258Asn, NP_001350017.1:p.Lys258Asn

Select item 14815717147.

rs1481571714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:122885949 (GRCh38)
11:122756657 (GRCh37)
Canonical SPDI:: NC_000011.10:122885948:G:T
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122885949G>T, NC_000011.9:g.122756657G>T, NM_024806.4:c.100G>T, NM_024806.3:c.100G>T, NM_199124.3:c.100G>T, NM_199124.2:c.100G>T, NM_001363089.2:c.100G>T, NM_001363089.1:c.100G>T, NM_001363087.2:c.100G>T, NM_001363087.1:c.100G>T, NM_001363088.2:c.100G>T, NM_001363088.1:c.100G>T, NP_079082.2:p.Asp34Tyr, NP_954575.1:p.Asp34Tyr, NP_001350018.1:p.Asp34Tyr, NP_001350016.1:p.Asp34Tyr, NP_001350017.1:p.Asp34Tyr

Select item 14808219458.

rs1480821945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122934647 (GRCh38)
11:122805355 (GRCh37)
Canonical SPDI:: NC_000011.10:122934646:T:C
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000011.10:g.122934647T>C, NC_000011.9:g.122805355T>C, NM_024806.4:c.1206T>C, NM_024806.3:c.1206T>C, NM_001363089.2:c.1206T>C, NM_001363089.1:c.1206T>C, NM_001363087.2:c.1206T>C, NM_001363087.1:c.1206T>C, NM_001363088.2:c.1092T>C, NM_001363088.1:c.1092T>C

Select item 14793399099.

rs1479339909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122885911 (GRCh38)
11:122756619 (GRCh37)
Canonical SPDI:: NC_000011.10:122885910:T:C
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122885911T>C, NC_000011.9:g.122756619T>C, NM_024806.4:c.62T>C, NM_024806.3:c.62T>C, NM_199124.3:c.62T>C, NM_199124.2:c.62T>C, NM_001363089.2:c.62T>C, NM_001363089.1:c.62T>C, NM_001363087.2:c.62T>C, NM_001363087.1:c.62T>C, NM_001363088.2:c.62T>C, NM_001363088.1:c.62T>C, NP_079082.2:p.Leu21Ser, NP_954575.1:p.Leu21Ser, NP_001350018.1:p.Leu21Ser, NP_001350016.1:p.Leu21Ser, NP_001350017.1:p.Leu21Ser

Select item 147918686110.

rs1479186861 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:122957462 (GRCh38)
11:122828171 (GRCh37)
Canonical SPDI:: NC_000011.10:122957462:AAAA:AAAAA
Gene:: JHY (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.122957466dup, NC_000011.9:g.122828174dup, NM_024806.4:c.2114dup, NM_024806.3:c.2114dup, NM_001363089.2:c.2114dup, NM_001363089.1:c.2114dup, NM_001363087.2:c.2033dup, NM_001363087.1:c.2033dup, NM_001363088.2:c.2000dup, NM_001363088.1:c.2000dup, NP_079082.2:p.Lys706fs, NP_001350018.1:p.Lys706fs, NP_001350016.1:p.Lys679fs, NP_001350017.1:p.Lys668fs

Select item 147829193511.

rs1478291935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122904119 (GRCh38)
11:122774827 (GRCh37)
Canonical SPDI:: NC_000011.10:122904118:A:G
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.122904119A>G, NC_000011.9:g.122774827A>G, NM_024806.4:c.539A>G, NM_024806.3:c.539A>G, NM_199124.3:c.539A>G, NM_199124.2:c.539A>G, NM_001363089.2:c.539A>G, NM_001363089.1:c.539A>G, NM_001363087.2:c.539A>G, NM_001363087.1:c.539A>G, NM_001363088.2:c.539A>G, NM_001363088.1:c.539A>G, NP_079082.2:p.Gln180Arg, NP_954575.1:p.Gln180Arg, NP_001350018.1:p.Gln180Arg, NP_001350016.1:p.Gln180Arg, NP_001350017.1:p.Gln180Arg

Select item 147746381112.

rs1477463811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:122886045 (GRCh38)
11:122756753 (GRCh37)
Canonical SPDI:: NC_000011.10:122886044:G:A
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.122886045G>A, NC_000011.9:g.122756753G>A, NM_024806.4:c.196G>A, NM_024806.3:c.196G>A, NM_199124.3:c.196G>A, NM_199124.2:c.196G>A, NM_001363089.2:c.196G>A, NM_001363089.1:c.196G>A, NM_001363087.2:c.196G>A, NM_001363087.1:c.196G>A, NM_001363088.2:c.196G>A, NM_001363088.1:c.196G>A, NP_079082.2:p.Gly66Ser, NP_954575.1:p.Gly66Ser, NP_001350018.1:p.Gly66Ser, NP_001350016.1:p.Gly66Ser, NP_001350017.1:p.Gly66Ser

Select item 147704952613.

rs1477049526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:122946588 (GRCh38)
11:122817296 (GRCh37)
Canonical SPDI:: NC_000011.10:122946587:G:A
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122946588G>A, NC_000011.9:g.122817296G>A, NM_024806.4:c.1725G>A, NM_024806.3:c.1725G>A, NM_001363089.2:c.1725G>A, NM_001363089.1:c.1725G>A, NM_001363087.2:c.1725G>A, NM_001363087.1:c.1725G>A, NM_001363088.2:c.1611G>A, NM_001363088.1:c.1611G>A

Select item 147623381314.

rs1476233813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:122946529 (GRCh38)
11:122817237 (GRCh37)
Canonical SPDI:: NC_000011.10:122946528:G:A
Gene:: JHY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.122946529G>A, NC_000011.9:g.122817237G>A, NM_024806.4:c.1666G>A, NM_024806.3:c.1666G>A, NM_001363089.2:c.1666G>A, NM_001363089.1:c.1666G>A, NM_001363087.2:c.1666G>A, NM_001363087.1:c.1666G>A, NM_001363088.2:c.1552G>A, NM_001363088.1:c.1552G>A, NP_079082.2:p.Val556Ile, NP_001350018.1:p.Val556Ile, NP_001350016.1:p.Val556Ile, NP_001350017.1:p.Val518Ile

Select item 147600717215.

rs1476007172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122934710 (GRCh38)
11:122805418 (GRCh37)
Canonical SPDI:: NC_000011.10:122934709:T:C
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122934710T>C, NC_000011.9:g.122805418T>C, NM_024806.4:c.1269T>C, NM_024806.3:c.1269T>C, NM_001363089.2:c.1269T>C, NM_001363089.1:c.1269T>C, NM_001363087.2:c.1269T>C, NM_001363087.1:c.1269T>C, NM_001363088.2:c.1155T>C, NM_001363088.1:c.1155T>C

Select item 147578649416.

rs1475786494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:122886021 (GRCh38)
11:122756729 (GRCh37)
Canonical SPDI:: NC_000011.10:122886020:T:C
Gene:: JHY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.122886021T>C, NC_000011.9:g.122756729T>C, NM_024806.4:c.172T>C, NM_024806.3:c.172T>C, NM_199124.3:c.172T>C, NM_199124.2:c.172T>C, NM_001363089.2:c.172T>C, NM_001363089.1:c.172T>C, NM_001363087.2:c.172T>C, NM_001363087.1:c.172T>C, NM_001363088.2:c.172T>C, NM_001363088.1:c.172T>C, NP_079082.2:p.Ser58Pro, NP_954575.1:p.Ser58Pro, NP_001350018.1:p.Ser58Pro, NP_001350016.1:p.Ser58Pro, NP_001350017.1:p.Ser58Pro

Select item 147240785517.

rs1472407855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:122924942 (GRCh38)
11:122795650 (GRCh37)
Canonical SPDI:: NC_000011.10:122924941:G:C
Gene:: JHY (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000078/11 (GnomAD)
C=0.000087/23 (TOPMED)
HGVS:: NC_000011.10:g.122924942G>C, NC_000011.9:g.122795650G>C, NM_024806.4:c.910G>C, NM_024806.3:c.910G>C, NM_001363089.2:c.910G>C, NM_001363089.1:c.910G>C, NM_001363087.2:c.910G>C, NM_001363087.1:c.910G>C, NP_079082.2:p.Ala304Pro, NP_001350018.1:p.Ala304Pro, NP_001350016.1:p.Ala304Pro

Select item 147164685318.

rs1471646853 [Homo sapiens]

Variant type:: DEL
Alleles:: TGG>- [Show Flanks]
Chromosome:: 11:122946752 (GRCh38)
11:122817460 (GRCh37)
Canonical SPDI:: NC_000011.10:122946751:TGG:
Gene:: JHY (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.122946752_122946754del, NC_000011.9:g.122817460_122817462del, NM_024806.4:c.1889_1891del, NM_024806.3:c.1889_1891del, NM_001363089.2:c.1889_1891del, NM_001363089.1:c.1889_1891del, NM_001363087.2:c.1889_1891del, NM_001363087.1:c.1889_1891del, NM_001363088.2:c.1775_1777del, NM_001363088.1:c.1775_1777del, NP_079082.2:p.Leu630_Glu631delinsGln, NP_001350018.1:p.Leu630_Glu631delinsGln, NP_001350016.1:p.Leu630_Glu631delinsGln, NP_001350017.1:p.Leu592_Glu593delinsGln

Select item 147027124119.

rs1470271241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:122946647 (GRCh38)
11:122817355 (GRCh37)
Canonical SPDI:: NC_000011.10:122946646:C:G
Gene:: JHY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122946647C>G, NC_000011.9:g.122817355C>G, NM_024806.4:c.1784C>G, NM_024806.3:c.1784C>G, NM_001363089.2:c.1784C>G, NM_001363089.1:c.1784C>G, NM_001363087.2:c.1784C>G, NM_001363087.1:c.1784C>G, NM_001363088.2:c.1670C>G, NM_001363088.1:c.1670C>G, NP_079082.2:p.Pro595Arg, NP_001350018.1:p.Pro595Arg, NP_001350016.1:p.Pro595Arg, NP_001350017.1:p.Pro557Arg

Select item 147020205920.

rs1470202059 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:122959355 (GRCh38)
11:122830063 (GRCh37)
Canonical SPDI:: NC_000011.10:122959354:A:
Gene:: JHY (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.122959355del, NC_000011.9:g.122830063del, NM_024806.4:c.2247del, NM_024806.3:c.2247del, NM_001363089.2:c.2247del, NM_001363089.1:c.2247del, NM_001363087.2:c.2166del, NM_001363087.1:c.2166del, NM_001363088.2:c.2133del, NM_001363088.1:c.2133del, NP_079082.2:p.Leu749fs, NP_001350018.1:p.Leu749fs, NP_001350016.1:p.Leu722fs, NP_001350017.1:p.Leu711fs

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