SNP Links for Protein (Select 260656028) - SNP

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Links from Protein

Items: 1 to 20 of 496

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Select item 14873662891.

rs1487366289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:119752668 (GRCh38)
1:120295291 (GRCh37)
Canonical SPDI:: NC_000001.11:119752667:G:A
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.119752668G>A, NC_000001.10:g.120295291G>A, NG_013348.1:g.21265C>T, NM_005518.4:c.1301C>T, NM_005518.3:c.1301C>T, NM_001166107.1:c.1175C>T, NP_005509.1:p.Pro434Leu, NP_001159579.1:p.Pro392Leu

Select item 14869640472.

rs1486964047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:119764243 (GRCh38)
1:120306866 (GRCh37)
Canonical SPDI:: NC_000001.11:119764242:G:T
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.119764243G>T, NC_000001.10:g.120306866G>T, NG_013348.1:g.9690C>A, NM_005518.4:c.488C>A, NM_005518.3:c.488C>A, NM_001166107.1:c.488C>A, NP_005509.1:p.Thr163Asn, NP_001159579.1:p.Thr163Asn

Select item 14860252423.

rs1486025242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:119750839 (GRCh38)
1:120293462 (GRCh37)
Canonical SPDI:: NC_000001.11:119750838:T:C
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.119750839T>C, NC_000001.10:g.120293462T>C, NG_013348.1:g.23094A>G, NM_005518.4:c.1490A>G, NM_005518.3:c.1490A>G, NM_001166107.1:c.1364A>G, NP_005509.1:p.Glu497Gly, NP_001159579.1:p.Glu455Gly

Select item 14853429494.

rs1485342949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:119759279 (GRCh38)
1:120301902 (GRCh37)
Canonical SPDI:: NC_000001.11:119759278:A:C
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.119759279A>C, NC_000001.10:g.120301902A>C, NG_013348.1:g.14654T>G, NM_005518.4:c.689T>G, NM_005518.3:c.689T>G, NM_001166107.1:c.563T>G, NP_005509.1:p.Leu230Arg, NP_001159579.1:p.Leu188Arg

Select item 14853248235.

rs1485324823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:119764537 (GRCh38)
1:120307160 (GRCh37)
Canonical SPDI:: NC_000001.11:119764536:G:C,NC_000001.11:119764536:G:T
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.119764537G>C, NC_000001.11:g.119764537G>T, NC_000001.10:g.120307160G>C, NC_000001.10:g.120307160G>T, NG_013348.1:g.9396C>G, NG_013348.1:g.9396C>A, NM_005518.4:c.194C>G, NM_005518.4:c.194C>A, NM_005518.3:c.194C>G, NM_005518.3:c.194C>A, NM_001166107.1:c.194C>G, NM_001166107.1:c.194C>A, NP_005509.1:p.Ala65Gly, NP_005509.1:p.Ala65Asp, NP_001159579.1:p.Ala65Gly, NP_001159579.1:p.Ala65Asp

Select item 14847677546.

rs1484767754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:119764473 (GRCh38)
1:120307096 (GRCh37)
Canonical SPDI:: NC_000001.11:119764472:C:T
Gene:: HMGCS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.119764473C>T, NC_000001.10:g.120307096C>T, NG_013348.1:g.9460G>A, NM_005518.4:c.258G>A, NM_005518.3:c.258G>A, NM_001166107.1:c.258G>A

Select item 14792059547.

rs1479205954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:119764485 (GRCh38)
1:120307108 (GRCh37)
Canonical SPDI:: NC_000001.11:119764484:T:C,NC_000001.11:119764484:T:G
Gene:: HMGCS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.119764485T>C, NC_000001.11:g.119764485T>G, NC_000001.10:g.120307108T>C, NC_000001.10:g.120307108T>G, NG_013348.1:g.9448A>G, NG_013348.1:g.9448A>C, NM_005518.4:c.246A>G, NM_005518.4:c.246A>C, NM_005518.3:c.246A>G, NM_005518.3:c.246A>C, NM_001166107.1:c.246A>G, NM_001166107.1:c.246A>C

Select item 14753984068.

rs1475398406 [Homo sapiens]

Variant type:: DEL
Alleles:: GAGG>- [Show Flanks]
Chromosome:: 1:119764612 (GRCh38)
1:120307235 (GRCh37)
Canonical SPDI:: NC_000001.11:119764611:GAGG:
Gene:: HMGCS2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.119764612_119764615del, NC_000001.10:g.120307235_120307238del, NG_013348.1:g.9318_9321del, NM_005518.4:c.116_119del, NM_005518.3:c.116_119del, NM_001166107.1:c.116_119del, NP_005509.1:p.Ala39fs, NP_001159579.1:p.Ala39fs

Select item 14737774739.

rs1473777473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:119750883 (GRCh38)
1:120293506 (GRCh37)
Canonical SPDI:: NC_000001.11:119750882:T:C
Gene:: HMGCS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.119750883T>C, NC_000001.10:g.120293506T>C, NG_013348.1:g.23050A>G, NM_005518.4:c.1446A>G, NM_005518.3:c.1446A>G, NM_001166107.1:c.1320A>G

Select item 147237066510.

rs1472370665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:119753281 (GRCh38)
1:120295904 (GRCh37)
Canonical SPDI:: NC_000001.11:119753280:T:C
Gene:: HMGCS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.119753281T>C, NC_000001.10:g.120295904T>C, NG_013348.1:g.20652A>G, NM_005518.4:c.1293A>G, NM_005518.3:c.1293A>G, NM_001166107.1:c.1167A>G

Select item 147180269711.

rs1471802697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:119753352 (GRCh38)
1:120295975 (GRCh37)
Canonical SPDI:: NC_000001.11:119753351:C:T
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.119753352C>T, NC_000001.10:g.120295975C>T, NG_013348.1:g.20581G>A, NM_005518.4:c.1222G>A, NM_005518.3:c.1222G>A, NM_001166107.1:c.1096G>A, NP_005509.1:p.Gly408Ser, NP_001159579.1:p.Gly366Ser

Select item 146963068512.

rs1469630685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:119764522 (GRCh38)
1:120307145 (GRCh37)
Canonical SPDI:: NC_000001.11:119764521:T:C
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.119764522T>C, NC_000001.10:g.120307145T>C, NG_013348.1:g.9411A>G, NM_005518.4:c.209A>G, NM_005518.3:c.209A>G, NM_001166107.1:c.209A>G, NP_005509.1:p.Gln70Arg, NP_001159579.1:p.Gln70Arg

Select item 146956130813.

rs1469561308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:119764469 (GRCh38)
1:120307092 (GRCh37)
Canonical SPDI:: NC_000001.11:119764468:A:G
Gene:: HMGCS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.119764469A>G, NC_000001.10:g.120307092A>G, NG_013348.1:g.9464T>C, NM_005518.4:c.262T>C, NM_005518.3:c.262T>C, NM_001166107.1:c.262T>C

Select item 146939981514.

rs1469399815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:119759236 (GRCh38)
1:120301859 (GRCh37)
Canonical SPDI:: NC_000001.11:119759235:T:A
Gene:: HMGCS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.119759236T>A, NC_000001.10:g.120301859T>A, NG_013348.1:g.14697A>T, NM_005518.4:c.732A>T, NM_005518.3:c.732A>T, NM_001166107.1:c.606A>T

Select item 146669152215.

rs1466691522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:119759183 (GRCh38)
1:120301806 (GRCh37)
Canonical SPDI:: NC_000001.11:119759182:T:C
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.119759183T>C, NC_000001.10:g.120301806T>C, NG_013348.1:g.14750A>G, NM_005518.4:c.785A>G, NM_005518.3:c.785A>G, NM_001166107.1:c.659A>G, NP_005509.1:p.Tyr262Cys, NP_001159579.1:p.Tyr220Cys

Select item 146221232016.

rs1462212320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:119764483 (GRCh38)
1:120307106 (GRCh37)
Canonical SPDI:: NC_000001.11:119764482:T:C
Gene:: HMGCS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.119764483T>C, NC_000001.10:g.120307106T>C, NG_013348.1:g.9450A>G, NM_005518.4:c.248A>G, NM_005518.3:c.248A>G, NM_001166107.1:c.248A>G, NP_005509.1:p.Lys83Arg, NP_001159579.1:p.Lys83Arg

Select item 145642551017.

rs1456425510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:119764195 (GRCh38)
1:120306818 (GRCh37)
Canonical SPDI:: NC_000001.11:119764194:C:T
Gene:: HMGCS2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.119764195C>T, NC_000001.10:g.120306818C>T, NG_013348.1:g.9738G>A, NM_005518.4:c.536G>A, NM_005518.3:c.536G>A, NM_001166107.1:c.536G>A, NP_005509.1:p.Trp179Ter, NP_001159579.1:p.Trp179Ter

Select item 145471980218.

rs1454719802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:119753373 (GRCh38)
1:120295996 (GRCh37)
Canonical SPDI:: NC_000001.11:119753372:C:A
Gene:: HMGCS2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.119753373C>A, NC_000001.10:g.120295996C>A, NG_013348.1:g.20560G>T, NM_005518.4:c.1201G>T, NM_005518.3:c.1201G>T, NM_001166107.1:c.1075G>T, NP_005509.1:p.Glu401Ter, NP_001159579.1:p.Glu359Ter

Select item 145373597519.

rs1453735975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:119764382 (GRCh38)
1:120307005 (GRCh37)
Canonical SPDI:: NC_000001.11:119764381:T:C
Gene:: HMGCS2 (Varview)
Functional Consequence:: coding_sequence_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)
C=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.119764382T>C, NC_000001.10:g.120307005T>C, NG_013348.1:g.9551A>G, NM_005518.4:c.349A>G, NM_005518.3:c.349A>G, NM_001166107.1:c.349A>G, NP_005509.1:p.Ile117Val, NP_001159579.1:p.Ile117Val

Select item 145255158020.

rs1452551580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:119768822 (GRCh38)
1:120311445 (GRCh37)
Canonical SPDI:: NC_000001.11:119768821:A:G
Gene:: HMGCS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.119768822A>G, NC_000001.10:g.120311445A>G, NG_013348.1:g.5111T>C, NM_005518.4:c.23T>C, NM_005518.3:c.23T>C, NM_001166107.1:c.23T>C, NG_076424.1:g.437A>G, NP_005509.1:p.Val8Ala, NP_001159579.1:p.Val8Ala

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