SNP Links for Protein (Select 970841894) - SNP

Links from Protein

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Select item 14905258621.

rs1490525862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:31528461 (GRCh38)
16:31539782 (GRCh37)
Canonical SPDI:: NC_000016.10:31528460:T:G
Gene:: AHSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000223/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31528461T>G, NC_000016.9:g.31539782T>G, NG_046852.1:g.5610T>G, NM_016633.4:c.79T>G, NM_016633.3:c.79T>G, NM_016633.2:c.79T>G, NM_001318221.2:c.79T>G, NM_001318221.1:c.79T>G, NM_001318222.2:c.79T>G, NM_001318222.1:c.79T>G, NP_057717.1:p.Phe27Val, NP_001305150.1:p.Phe27Val, NP_001305151.1:p.Phe27Val

Select item 14874317702.

rs1487431770 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTCTCT>- [Show Flanks]
Chromosome:: 16:31528475 (GRCh38)
16:31539796 (GRCh37)
Canonical SPDI:: NC_000016.10:31528470:CTCTCGTCTCT:CTCT
Gene:: AHSP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31528475_31528481del, NC_000016.9:g.31539796_31539802del, NG_046852.1:g.5624_5630del, NM_016633.4:c.93_99del, NM_016633.3:c.93_99del, NM_016633.2:c.93_99del, NM_001318221.2:c.93_99del, NM_001318221.1:c.93_99del, NM_001318222.2:c.93_99del, NM_001318222.1:c.93_99del, NP_057717.1:p.Val32fs, NP_001305150.1:p.Val32fs, NP_001305151.1:p.Val32fs

Select item 14709778593.

rs1470977859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31528634 (GRCh38)
16:31539955 (GRCh37)
Canonical SPDI:: NC_000016.10:31528633:G:A
Gene:: AHSP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31528634G>A, NC_000016.9:g.31539955G>A, NG_046852.1:g.5783G>A, NM_016633.4:c.252G>A, NM_016633.3:c.252G>A, NM_016633.2:c.252G>A, NM_001318221.2:c.252G>A, NM_001318221.1:c.252G>A, NM_001318222.2:c.252G>A, NM_001318222.1:c.252G>A

Select item 14616472554.

rs1461647255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31528617 (GRCh38)
16:31539938 (GRCh37)
Canonical SPDI:: NC_000016.10:31528616:A:G
Gene:: AHSP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31528617A>G, NC_000016.9:g.31539938A>G, NG_046852.1:g.5766A>G, NM_016633.4:c.235A>G, NM_016633.3:c.235A>G, NM_016633.2:c.235A>G, NM_001318221.2:c.235A>G, NM_001318221.1:c.235A>G, NM_001318222.2:c.235A>G, NM_001318222.1:c.235A>G, NP_057717.1:p.Asn79Asp, NP_001305150.1:p.Asn79Asp, NP_001305151.1:p.Asn79Asp

Select item 14610596345.

rs1461059634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:31528568 (GRCh38)
16:31539889 (GRCh37)
Canonical SPDI:: NC_000016.10:31528567:G:A,NC_000016.10:31528567:G:C
Gene:: AHSP (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31528568G>A, NC_000016.10:g.31528568G>C, NC_000016.9:g.31539889G>A, NC_000016.9:g.31539889G>C, NG_046852.1:g.5717G>A, NG_046852.1:g.5717G>C, NM_016633.4:c.186G>A, NM_016633.4:c.186G>C, NM_016633.3:c.186G>A, NM_016633.3:c.186G>C, NM_016633.2:c.186G>A, NM_016633.2:c.186G>C, NM_001318221.2:c.186G>A, NM_001318221.2:c.186G>C, NM_001318221.1:c.186G>A, NM_001318221.1:c.186G>C, NM_001318222.2:c.186G>A, NM_001318222.2:c.186G>C, NM_001318222.1:c.186G>A, NM_001318222.1:c.186G>C, NP_057717.1:p.Glu62Asp, NP_001305150.1:p.Glu62Asp, NP_001305151.1:p.Glu62Asp

Select item 14450271506.

rs1445027150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:31528502 (GRCh38)
16:31539823 (GRCh37)
Canonical SPDI:: NC_000016.10:31528501:G:C
Gene:: AHSP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31528502G>C, NC_000016.9:g.31539823G>C, NG_046852.1:g.5651G>C, NM_016633.4:c.120G>C, NM_016633.3:c.120G>C, NM_016633.2:c.120G>C, NM_001318221.2:c.120G>C, NM_001318221.1:c.120G>C, NM_001318222.2:c.120G>C, NM_001318222.1:c.120G>C

Select item 14448666347.

rs1444866634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:31528664 (GRCh38)
16:31539985 (GRCh37)
Canonical SPDI:: NC_000016.10:31528663:C:A
Gene:: AHSP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.31528664C>A, NC_000016.9:g.31539985C>A, NG_046852.1:g.5813C>A, NM_016633.4:c.282C>A, NM_016633.3:c.282C>A, NM_016633.2:c.282C>A, NM_001318221.2:c.282C>A, NM_001318221.1:c.282C>A, NM_001318222.2:c.282C>A, NM_001318222.1:c.282C>A

Select item 14432188468.

rs1443218846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:31528657 (GRCh38)
16:31539978 (GRCh37)
Canonical SPDI:: NC_000016.10:31528656:A:C,NC_000016.10:31528656:A:T
Gene:: AHSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.31528657A>C, NC_000016.10:g.31528657A>T, NC_000016.9:g.31539978A>C, NC_000016.9:g.31539978A>T, NG_046852.1:g.5806A>C, NG_046852.1:g.5806A>T, NM_016633.4:c.275A>C, NM_016633.4:c.275A>T, NM_016633.3:c.275A>C, NM_016633.3:c.275A>T, NM_016633.2:c.275A>C, NM_016633.2:c.275A>T, NM_001318221.2:c.275A>C, NM_001318221.2:c.275A>T, NM_001318221.1:c.275A>C, NM_001318221.1:c.275A>T, NM_001318222.2:c.275A>C, NM_001318222.2:c.275A>T, NM_001318222.1:c.275A>C, NM_001318222.1:c.275A>T, NP_057717.1:p.His92Pro, NP_057717.1:p.His92Leu, NP_001305150.1:p.His92Pro, NP_001305150.1:p.His92Leu, NP_001305151.1:p.His92Pro, NP_001305151.1:p.His92Leu

Select item 14334980149.

rs1433498014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31528511 (GRCh38)
16:31539832 (GRCh37)
Canonical SPDI:: NC_000016.10:31528510:C:T
Gene:: AHSP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31528511C>T, NC_000016.9:g.31539832C>T, NG_046852.1:g.5660C>T, NM_016633.4:c.129C>T, NM_016633.3:c.129C>T, NM_016633.2:c.129C>T, NM_001318221.2:c.129C>T, NM_001318221.1:c.129C>T, NM_001318222.2:c.129C>T, NM_001318222.1:c.129C>T

Select item 143066550610.

rs1430665506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31528690 (GRCh38)
16:31540011 (GRCh37)
Canonical SPDI:: NC_000016.10:31528689:A:G
Gene:: AHSP (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31528690A>G, NC_000016.9:g.31540011A>G, NG_046852.1:g.5839A>G, NM_016633.4:c.308A>G, NM_016633.3:c.308A>G, NM_016633.2:c.308A>G, NM_001318221.2:c.308A>G, NM_001318221.1:c.308A>G, NM_001318222.2:c.308A>G, NM_001318222.1:c.308A>G, NP_057717.1:p.Ter103Trp, NP_001305150.1:p.Ter103Trp, NP_001305151.1:p.Ter103Trp

Select item 141893350011.

rs1418933500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31528587 (GRCh38)
16:31539908 (GRCh37)
Canonical SPDI:: NC_000016.10:31528586:G:A
Gene:: AHSP (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=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31528587G>A, NC_000016.9:g.31539908G>A, NG_046852.1:g.5736G>A, NM_016633.4:c.205G>A, NM_016633.3:c.205G>A, NM_016633.2:c.205G>A, NM_001318221.2:c.205G>A, NM_001318221.1:c.205G>A, NM_001318222.2:c.205G>A, NM_001318222.1:c.205G>A, NP_057717.1:p.Glu69Lys, NP_001305150.1:p.Glu69Lys, NP_001305151.1:p.Glu69Lys

Select item 141875256012.

rs1418752560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31528184 (GRCh38)
16:31539505 (GRCh37)
Canonical SPDI:: NC_000016.10:31528183:G:A
Gene:: AHSP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31528184G>A, NC_000016.9:g.31539505G>A, NG_046852.1:g.5333G>A, NM_016633.4:c.45G>A, NM_016633.3:c.45G>A, NM_016633.2:c.45G>A, NM_001318221.2:c.45G>A, NM_001318221.1:c.45G>A, NM_001318222.2:c.45G>A, NM_001318222.1:c.45G>A

Select item 141357168613.

rs1413571686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31528631 (GRCh38)
16:31539952 (GRCh37)
Canonical SPDI:: NC_000016.10:31528630:C:T
Gene:: AHSP (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_000016.10:g.31528631C>T, NC_000016.9:g.31539952C>T, NG_046852.1:g.5780C>T, NM_016633.4:c.249C>T, NM_016633.3:c.249C>T, NM_016633.2:c.249C>T, NM_001318221.2:c.249C>T, NM_001318221.1:c.249C>T, NM_001318222.2:c.249C>T, NM_001318222.1:c.249C>T

Select item 140728755114.

rs1407287551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:31528643 (GRCh38)
16:31539964 (GRCh37)
Canonical SPDI:: NC_000016.10:31528642:C:A
Gene:: AHSP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31528643C>A, NC_000016.9:g.31539964C>A, NG_046852.1:g.5792C>A, NM_016633.4:c.261C>A, NM_016633.3:c.261C>A, NM_016633.2:c.261C>A, NM_001318221.2:c.261C>A, NM_001318221.1:c.261C>A, NM_001318222.2:c.261C>A, NM_001318222.1:c.261C>A, NP_057717.1:p.Asp87Glu, NP_001305150.1:p.Asp87Glu, NP_001305151.1:p.Asp87Glu

Select item 139509417815.

rs1395094178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:31528621 (GRCh38)
16:31539942 (GRCh37)
Canonical SPDI:: NC_000016.10:31528620:C:A,NC_000016.10:31528620:C:T
Gene:: AHSP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.31528621C>A, NC_000016.10:g.31528621C>T, NC_000016.9:g.31539942C>A, NC_000016.9:g.31539942C>T, NG_046852.1:g.5770C>A, NG_046852.1:g.5770C>T, NM_016633.4:c.239C>A, NM_016633.4:c.239C>T, NM_016633.3:c.239C>A, NM_016633.3:c.239C>T, NM_016633.2:c.239C>A, NM_016633.2:c.239C>T, NM_001318221.2:c.239C>A, NM_001318221.2:c.239C>T, NM_001318221.1:c.239C>A, NM_001318221.1:c.239C>T, NM_001318222.2:c.239C>A, NM_001318222.2:c.239C>T, NM_001318222.1:c.239C>A, NM_001318222.1:c.239C>T, NP_057717.1:p.Pro80His, NP_057717.1:p.Pro80Leu, NP_001305150.1:p.Pro80His, NP_001305150.1:p.Pro80Leu, NP_001305151.1:p.Pro80His, NP_001305151.1:p.Pro80Leu

Select item 137135901816.

rs1371359018 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCATGAGCTCATGAGCTCAT [Show Flanks]
Chromosome:: 16:31528666 (GRCh38)
16:31539988 (GRCh37)
Canonical SPDI:: NC_000016.10:31528666::TCATGAGCTCATGAGCTCAT
Gene:: AHSP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: TCATGAGCTCATGAGCTCAT=0.000008/2 (GnomAD_exomes)
TCATGAGCTCATGAGCTCAT=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.31528666_31528667insTCATGAGCTCATGAGCTCAT, NC_000016.9:g.31539987_31539988insTCATGAGCTCATGAGCTCAT, NG_046852.1:g.5815_5816insTCATGAGCTCATGAGCTCAT, NM_016633.4:c.284_285insTCATGAGCTCATGAGCTCAT, NM_016633.3:c.284_285insTCATGAGCTCATGAGCTCAT, NM_016633.2:c.284_285insTCATGAGCTCATGAGCTCAT, NM_001318221.2:c.284_285insTCATGAGCTCATGAGCTCAT, NM_001318221.1:c.284_285insTCATGAGCTCATGAGCTCAT, NM_001318222.2:c.284_285insTCATGAGCTCATGAGCTCAT, NM_001318222.1:c.284_285insTCATGAGCTCATGAGCTCAT, NP_057717.1:p.Ser96fs, NP_001305150.1:p.Ser96fs, NP_001305151.1:p.Ser96fs

Select item 136166998217.

rs1361669982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:31528514 (GRCh38)
16:31539835 (GRCh37)
Canonical SPDI:: NC_000016.10:31528513:G:A,NC_000016.10:31528513:G:C
Gene:: AHSP (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.31528514G>A, NC_000016.10:g.31528514G>C, NC_000016.9:g.31539835G>A, NC_000016.9:g.31539835G>C, NG_046852.1:g.5663G>A, NG_046852.1:g.5663G>C, NM_016633.4:c.132G>A, NM_016633.4:c.132G>C, NM_016633.3:c.132G>A, NM_016633.3:c.132G>C, NM_016633.2:c.132G>A, NM_016633.2:c.132G>C, NM_001318221.2:c.132G>A, NM_001318221.2:c.132G>C, NM_001318221.1:c.132G>A, NM_001318221.1:c.132G>C, NM_001318222.2:c.132G>A, NM_001318222.2:c.132G>C, NM_001318222.1:c.132G>A, NM_001318222.1:c.132G>C, NP_057717.1:p.Trp44Ter, NP_057717.1:p.Trp44Cys, NP_001305150.1:p.Trp44Ter, NP_001305150.1:p.Trp44Cys, NP_001305151.1:p.Trp44Ter, NP_001305151.1:p.Trp44Cys

Select item 135782004518.

rs1357820045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:31528648 (GRCh38)
16:31539969 (GRCh37)
Canonical SPDI:: NC_000016.10:31528647:T:C,NC_000016.10:31528647:T:G
Gene:: AHSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31528648T>C, NC_000016.10:g.31528648T>G, NC_000016.9:g.31539969T>C, NC_000016.9:g.31539969T>G, NG_046852.1:g.5797T>C, NG_046852.1:g.5797T>G, NM_016633.4:c.266T>C, NM_016633.4:c.266T>G, NM_016633.3:c.266T>C, NM_016633.3:c.266T>G, NM_016633.2:c.266T>C, NM_016633.2:c.266T>G, NM_001318221.2:c.266T>C, NM_001318221.2:c.266T>G, NM_001318221.1:c.266T>C, NM_001318221.1:c.266T>G, NM_001318222.2:c.266T>C, NM_001318222.2:c.266T>G, NM_001318222.1:c.266T>C, NM_001318222.1:c.266T>G, NP_057717.1:p.Leu89Pro, NP_057717.1:p.Leu89Arg, NP_001305150.1:p.Leu89Pro, NP_001305150.1:p.Leu89Arg, NP_001305151.1:p.Leu89Pro, NP_001305151.1:p.Leu89Arg

Select item 135644365419.

rs1356443654 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCTGGAAGCT [Show Flanks]
Chromosome:: 16:31528654 (GRCh38)
16:31539976 (GRCh37)
Canonical SPDI:: NC_000016.10:31528654::CCTGGAAGCT
Gene:: AHSP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000016.10:g.31528654_31528655insCCTGGAAGCT, NC_000016.9:g.31539975_31539976insCCTGGAAGCT, NG_046852.1:g.5803_5804insCCTGGAAGCT, NM_016633.4:c.272_273insCCTGGAAGCT, NM_016633.3:c.272_273insCCTGGAAGCT, NM_016633.2:c.272_273insCCTGGAAGCT, NM_001318221.2:c.272_273insCCTGGAAGCT, NM_001318221.1:c.272_273insCCTGGAAGCT, NM_001318222.2:c.272_273insCCTGGAAGCT, NM_001318222.1:c.272_273insCCTGGAAGCT, NP_057717.1:p.His92fs, NP_001305150.1:p.His92fs, NP_001305151.1:p.His92fs

Select item 135395025920.

rs1353950259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31528666 (GRCh38)
16:31539987 (GRCh37)
Canonical SPDI:: NC_000016.10:31528665:C:T
Gene:: AHSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000016.10:g.31528666C>T, NC_000016.9:g.31539987C>T, NG_046852.1:g.5815C>T, NM_016633.4:c.284C>T, NM_016633.3:c.284C>T, NM_016633.2:c.284C>T, NM_001318221.2:c.284C>T, NM_001318221.1:c.284C>T, NM_001318222.2:c.284C>T, NM_001318222.1:c.284C>T, NP_057717.1:p.Pro95Leu, NP_001305150.1:p.Pro95Leu, NP_001305151.1:p.Pro95Leu

dbSNP

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