SNP Links for Protein (Select 315360645) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 493

<< First< Prev

Page of 25

Next >Last >>

Select item 14904071381.

rs1490407138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:83334633 (GRCh38)
4:84255786 (GRCh37)
Canonical SPDI:: NC_000004.12:83334632:G:A,NC_000004.12:83334632:G:C
Gene:: HPSE (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83334633G>A, NC_000004.12:g.83334633G>C, NC_000004.11:g.84255786G>A, NC_000004.11:g.84255786G>C, NG_028037.1:g.5521C>T, NG_028037.1:g.5521C>G, NM_006665.6:c.150C>T, NM_006665.6:c.150C>G, NM_006665.5:c.150C>T, NM_006665.5:c.150C>G, NM_001098540.3:c.150C>T, NM_001098540.3:c.150C>G, NM_001098540.2:c.150C>T, NM_001098540.2:c.150C>G, NM_001166498.3:c.150C>T, NM_001166498.3:c.150C>G, NM_001166498.2:c.150C>T, NM_001166498.2:c.150C>G, NM_001199830.1:c.150C>T, NM_001199830.1:c.150C>G, NP_006656.2:p.His50Gln, NP_001092010.1:p.His50Gln, NP_001159970.1:p.His50Gln, NP_001186759.1:p.His50Gln

Select item 14898892472.

rs1489889247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:83310790 (GRCh38)
4:84231943 (GRCh37)
Canonical SPDI:: NC_000004.12:83310789:G:T
Gene:: HPSE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83310790G>T, NC_000004.11:g.84231943G>T, NG_028037.1:g.29364C>A, NM_006665.6:c.774C>A, NM_006665.5:c.774C>A, NM_001098540.3:c.774C>A, NM_001098540.2:c.774C>A, NM_001166498.3:c.774C>A, NM_001166498.2:c.774C>A, NM_001199830.1:c.600C>A, NP_006656.2:p.Phe258Leu, NP_001092010.1:p.Phe258Leu, NP_001159970.1:p.Phe258Leu, NP_001186759.1:p.Phe200Leu

Select item 14892282813.

rs1489228281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:83308901 (GRCh38)
4:84230054 (GRCh37)
Canonical SPDI:: NC_000004.12:83308900:G:C
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant,missense_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_000004.12:g.83308901G>C, NC_000004.11:g.84230054G>C, NG_028037.1:g.31253C>G, NM_006665.6:c.1035C>G, NM_006665.5:c.1035C>G, NM_001098540.3:c.1035C>G, NM_001098540.2:c.1035C>G, NM_001199830.1:c.861C>G, NP_006656.2:p.Ser345Arg, NP_001092010.1:p.Ser345Arg, NP_001186759.1:p.Ser287Arg

Select item 14877879484.

rs1487787948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:83306312 (GRCh38)
4:84227465 (GRCh37)
Canonical SPDI:: NC_000004.12:83306311:A:T
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83306312A>T, NC_000004.11:g.84227465A>T, NG_028037.1:g.33842T>A, NM_006665.6:c.1097T>A, NM_006665.5:c.1097T>A, NM_001098540.3:c.1097T>A, NM_001098540.2:c.1097T>A, NM_001199830.1:c.923T>A, NP_006656.2:p.Leu366Gln, NP_001092010.1:p.Leu366Gln, NP_001186759.1:p.Leu308Gln

Select item 14877158195.

rs1487715819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83295390 (GRCh38)
4:84216543 (GRCh37)
Canonical SPDI:: NC_000004.12:83295389:T:C
Gene:: HPSE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.83295390T>C, NC_000004.11:g.84216543T>C, NG_028037.1:g.44764A>G, NM_006665.6:c.1586A>G, NM_006665.5:c.1586A>G, NM_001098540.3:c.1586A>G, NM_001098540.2:c.1586A>G, NM_001166498.3:c.1364A>G, NM_001166498.2:c.1364A>G, NM_001199830.1:c.1412A>G, NP_006656.2:p.Tyr529Cys, NP_001092010.1:p.Tyr529Cys, NP_001159970.1:p.Tyr455Cys, NP_001186759.1:p.Tyr471Cys

Select item 14805620266.

rs1480562026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:83334570 (GRCh38)
4:84255723 (GRCh37)
Canonical SPDI:: NC_000004.12:83334569:G:A,NC_000004.12:83334569:G:C
Gene:: HPSE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.83334570G>A, NC_000004.12:g.83334570G>C, NC_000004.11:g.84255723G>A, NC_000004.11:g.84255723G>C, NG_028037.1:g.5584C>T, NG_028037.1:g.5584C>G, NM_006665.6:c.213C>T, NM_006665.6:c.213C>G, NM_006665.5:c.213C>T, NM_006665.5:c.213C>G, NM_001098540.3:c.213C>T, NM_001098540.3:c.213C>G, NM_001098540.2:c.213C>T, NM_001098540.2:c.213C>G, NM_001166498.3:c.213C>T, NM_001166498.3:c.213C>G, NM_001166498.2:c.213C>T, NM_001166498.2:c.213C>G, NM_001199830.1:c.213C>T, NM_001199830.1:c.213C>G, NP_006656.2:p.Phe71Leu, NP_001092010.1:p.Phe71Leu, NP_001159970.1:p.Phe71Leu, NP_001186759.1:p.Phe71Leu

Select item 14792521787.

rs1479252178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:83319441 (GRCh38)
4:84240594 (GRCh37)
Canonical SPDI:: NC_000004.12:83319440:A:T
Gene:: HPSE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.83319441A>T, NC_000004.11:g.84240594A>T, NG_028037.1:g.20713T>A, NM_006665.6:c.402T>A, NM_006665.5:c.402T>A, NM_001098540.3:c.402T>A, NM_001098540.2:c.402T>A, NM_001166498.3:c.402T>A, NM_001166498.2:c.402T>A, NM_001199830.1:c.402T>A

Select item 14789590118.

rs1478959011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:83310807 (GRCh38)
4:84231960 (GRCh37)
Canonical SPDI:: NC_000004.12:83310806:G:C
Gene:: HPSE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83310807G>C, NC_000004.11:g.84231960G>C, NG_028037.1:g.29347C>G, NM_006665.6:c.757C>G, NM_006665.5:c.757C>G, NM_001098540.3:c.757C>G, NM_001098540.2:c.757C>G, NM_001166498.3:c.757C>G, NM_001166498.2:c.757C>G, NM_001199830.1:c.583C>G, NP_006656.2:p.Leu253Val, NP_001092010.1:p.Leu253Val, NP_001159970.1:p.Leu253Val, NP_001186759.1:p.Leu195Val

Select item 14788002899.

rs1478800289 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 4:83322346 (GRCh38)
4:84243500 (GRCh37)
Canonical SPDI:: NC_000004.12:83322346::TT
Gene:: HPSE (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: TT=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83322346_83322347insTT, NC_000004.11:g.84243499_84243500insTT, NG_028037.1:g.17807_17808insAA, NM_006665.6:c.245_246insAA, NM_006665.5:c.245_246insAA, NM_001098540.3:c.245_246insAA, NM_001098540.2:c.245_246insAA, NM_001166498.3:c.245_246insAA, NM_001166498.2:c.245_246insAA, NM_001199830.1:c.245_246insAA, NP_006656.2:p.Leu83fs, NP_001092010.1:p.Leu83fs, NP_001159970.1:p.Leu83fs, NP_001186759.1:p.Leu83fs

Select item 147558531210.

rs1475585312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83295488 (GRCh38)
4:84216641 (GRCh37)
Canonical SPDI:: NC_000004.12:83295487:A:G
Gene:: HPSE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83295488A>G, NC_000004.11:g.84216641A>G, NG_028037.1:g.44666T>C, NM_006665.6:c.1488T>C, NM_006665.5:c.1488T>C, NM_001098540.3:c.1488T>C, NM_001098540.2:c.1488T>C, NM_001166498.3:c.1266T>C, NM_001166498.2:c.1266T>C, NM_001199830.1:c.1314T>C

Select item 147548896111.

rs1475488961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83322302 (GRCh38)
4:84243455 (GRCh37)
Canonical SPDI:: NC_000004.12:83322301:G:A
Gene:: HPSE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.83322302G>A, NC_000004.11:g.84243455G>A, NG_028037.1:g.17852C>T, NM_006665.6:c.290C>T, NM_006665.5:c.290C>T, NM_001098540.3:c.290C>T, NM_001098540.2:c.290C>T, NM_001166498.3:c.290C>T, NM_001166498.2:c.290C>T, NM_001199830.1:c.290C>T, NP_006656.2:p.Thr97Ile, NP_001092010.1:p.Thr97Ile, NP_001159970.1:p.Thr97Ile, NP_001186759.1:p.Thr97Ile

Select item 146902537812.

rs1469025378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:83308927 (GRCh38)
4:84230080 (GRCh37)
Canonical SPDI:: NC_000004.12:83308926:T:G
Gene:: HPSE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000016/4 (GnomAD_exomes)
G=0.000223/1 (Estonian)
G=0.00046/8 (TOMMO)
HGVS:: NC_000004.12:g.83308927T>G, NC_000004.11:g.84230080T>G, NG_028037.1:g.31227A>C, NM_006665.6:c.1009A>C, NM_006665.5:c.1009A>C, NM_001098540.3:c.1009A>C, NM_001098540.2:c.1009A>C, NM_001199830.1:c.835A>C, NP_006656.2:p.Lys337Gln, NP_001092010.1:p.Lys337Gln, NP_001186759.1:p.Lys279Gln

Select item 146876123913.

rs1468761239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83301098 (GRCh38)
4:84222251 (GRCh37)
Canonical SPDI:: NC_000004.12:83301097:T:C
Gene:: HPSE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83301098T>C, NC_000004.11:g.84222251T>C, NG_028037.1:g.39056A>G, NM_006665.6:c.1334A>G, NM_006665.5:c.1334A>G, NM_001098540.3:c.1334A>G, NM_001098540.2:c.1334A>G, NM_001166498.3:c.1112A>G, NM_001166498.2:c.1112A>G, NM_001199830.1:c.1160A>G, NP_006656.2:p.Tyr445Cys, NP_001092010.1:p.Tyr445Cys, NP_001159970.1:p.Tyr371Cys, NP_001186759.1:p.Tyr387Cys

Select item 146532805314.

rs1465328053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:83322321 (GRCh38)
4:84243474 (GRCh37)
Canonical SPDI:: NC_000004.12:83322320:A:G,NC_000004.12:83322320:A:T
Gene:: HPSE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83322321A>G, NC_000004.12:g.83322321A>T, NC_000004.11:g.84243474A>G, NC_000004.11:g.84243474A>T, NG_028037.1:g.17833T>C, NG_028037.1:g.17833T>A, NM_006665.6:c.271T>C, NM_006665.6:c.271T>A, NM_006665.5:c.271T>C, NM_006665.5:c.271T>A, NM_001098540.3:c.271T>C, NM_001098540.3:c.271T>A, NM_001098540.2:c.271T>C, NM_001098540.2:c.271T>A, NM_001166498.3:c.271T>C, NM_001166498.3:c.271T>A, NM_001166498.2:c.271T>C, NM_001166498.2:c.271T>A, NM_001199830.1:c.271T>C, NM_001199830.1:c.271T>A, NP_006656.2:p.Tyr91His, NP_006656.2:p.Tyr91Asn, NP_001092010.1:p.Tyr91His, NP_001092010.1:p.Tyr91Asn, NP_001159970.1:p.Tyr91His, NP_001159970.1:p.Tyr91Asn, NP_001186759.1:p.Tyr91His, NP_001186759.1:p.Tyr91Asn

Select item 146346448215.

rs1463464482 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGGATAGGGTAACCGCAA>- [Show Flanks]
Chromosome:: 4:83301024 (GRCh38)
4:84222177 (GRCh37)
Canonical SPDI:: NC_000004.12:83301021:AAAAGGATAGGGTAACCGCAA:AA
Gene:: HPSE (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83301024_83301042del, NC_000004.11:g.84222177_84222195del, NG_028037.1:g.39114_39132del, NM_006665.6:c.1392_1410del, NM_006665.5:c.1392_1410del, NM_001098540.3:c.1392_1410del, NM_001098540.2:c.1392_1410del, NM_001166498.3:c.1170_1188del, NM_001166498.2:c.1170_1188del, NM_001199830.1:c.1218_1236del, NP_006656.2:p.Leu464fs, NP_001092010.1:p.Leu464fs, NP_001159970.1:p.Leu390fs, NP_001186759.1:p.Leu406fs

Select item 146271471016.

rs1462714710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83302260 (GRCh38)
4:84223413 (GRCh37)
Canonical SPDI:: NC_000004.12:83302259:C:T
Gene:: HPSE (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.83302260C>T, NC_000004.11:g.84223413C>T, NG_028037.1:g.37894G>A, NM_006665.6:c.1215G>A, NM_006665.5:c.1215G>A, NM_001098540.3:c.1215G>A, NM_001098540.2:c.1215G>A, NM_001166498.3:c.993G>A, NM_001166498.2:c.993G>A, NM_001199830.1:c.1041G>A, NP_006656.2:p.Trp405Ter, NP_001092010.1:p.Trp405Ter, NP_001159970.1:p.Trp331Ter, NP_001186759.1:p.Trp347Ter

Select item 145664330717.

rs1456643307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:83301028 (GRCh38)
4:84222181 (GRCh37)
Canonical SPDI:: NC_000004.12:83301027:A:T
Gene:: HPSE (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83301028A>T, NC_000004.11:g.84222181A>T, NG_028037.1:g.39126T>A, NM_006665.6:c.1404T>A, NM_006665.5:c.1404T>A, NM_001098540.3:c.1404T>A, NM_001098540.2:c.1404T>A, NM_001166498.3:c.1182T>A, NM_001166498.2:c.1182T>A, NM_001199830.1:c.1230T>A, NP_006656.2:p.Tyr468Ter, NP_001092010.1:p.Tyr468Ter, NP_001159970.1:p.Tyr394Ter, NP_001186759.1:p.Tyr410Ter

Select item 145557152718.

rs1455571527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83334630 (GRCh38)
4:84255783 (GRCh37)
Canonical SPDI:: NC_000004.12:83334629:C:T
Gene:: HPSE (Varview)
Functional Consequence:: synonymous_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_000004.12:g.83334630C>T, NC_000004.11:g.84255783C>T, NG_028037.1:g.5524G>A, NM_006665.6:c.153G>A, NM_006665.5:c.153G>A, NM_001098540.3:c.153G>A, NM_001098540.2:c.153G>A, NM_001166498.3:c.153G>A, NM_001166498.2:c.153G>A, NM_001199830.1:c.153G>A

Select item 145524861219.

rs1455248612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83306235 (GRCh38)
4:84227388 (GRCh37)
Canonical SPDI:: NC_000004.12:83306234:G:A
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.83306235G>A, NC_000004.11:g.84227388G>A, NG_028037.1:g.33919C>T, NM_006665.6:c.1174C>T, NM_006665.5:c.1174C>T, NM_001098540.3:c.1174C>T, NM_001098540.2:c.1174C>T, NM_001199830.1:c.1000C>T, NP_006656.2:p.His392Tyr, NP_001092010.1:p.His392Tyr, NP_001186759.1:p.His334Tyr

Select item 145395995320.

rs1453959953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83322358 (GRCh38)
4:84243511 (GRCh37)
Canonical SPDI:: NC_000004.12:83322357:T:C
Gene:: HPSE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83322358T>C, NC_000004.11:g.84243511T>C, NG_028037.1:g.17796A>G, NM_006665.6:c.234A>G, NM_006665.5:c.234A>G, NM_001098540.3:c.234A>G, NM_001098540.2:c.234A>G, NM_001166498.3:c.234A>G, NM_001166498.2:c.234A>G, NM_001199830.1:c.234A>G

<< First< Prev

Page of 25

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 315360645) (493)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: