SNP Links for Protein (Select 261878618) - SNP

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Links from Protein

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Select item 14903780421.

rs1490378042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:52784392 (GRCh38)
3:52818408 (GRCh37)
Canonical SPDI:: NC_000003.12:52784391:T:G
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52784392T>G, NC_000003.11:g.52818408T>G, NG_016005.1:g.11801T>G, NM_002215.4:c.1322T>G, NM_002215.3:c.1322T>G, NM_001166434.3:c.896T>G, NM_001166434.2:c.896T>G, NM_001166435.2:c.458T>G, NM_001166436.2:c.458T>G, NP_002206.2:p.Phe441Cys, NP_001159906.1:p.Phe299Cys, NP_001159907.1:p.Phe153Cys, NP_001159908.1:p.Phe153Cys

Select item 14889077402.

rs1488907740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52790875 (GRCh38)
3:52824891 (GRCh37)
Canonical SPDI:: NC_000003.12:52790874:T:C
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52790875T>C, NC_000003.11:g.52824891T>C, NG_016005.1:g.18284T>C, NM_002215.4:c.2448T>C, NM_002215.3:c.2448T>C, NM_001166434.3:c.2022T>C, NM_001166434.2:c.2022T>C, NM_001166435.2:c.1584T>C, NM_001166436.2:c.1584T>C

Select item 14888222473.

rs1488822247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52783011 (GRCh38)
3:52817027 (GRCh37)
Canonical SPDI:: NC_000003.12:52783010:G:T
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52783011G>T, NC_000003.11:g.52817027G>T, NG_016005.1:g.10420G>T, NM_002215.4:c.985G>T, NM_002215.3:c.985G>T, NM_001166434.3:c.559G>T, NM_001166434.2:c.559G>T, NM_001166435.2:c.121G>T, NM_001166436.2:c.121G>T, NP_002206.2:p.Asp329Tyr, NP_001159906.1:p.Asp187Tyr, NP_001159907.1:p.Asp41Tyr, NP_001159908.1:p.Asp41Tyr

Select item 14853279314.

rs1485327931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52790750 (GRCh38)
3:52824766 (GRCh37)
Canonical SPDI:: NC_000003.12:52790749:G:T
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52790750G>T, NC_000003.11:g.52824766G>T, NG_016005.1:g.18159G>T, NM_002215.4:c.2323G>T, NM_002215.3:c.2323G>T, NM_001166434.3:c.1897G>T, NM_001166434.2:c.1897G>T, NM_001166435.2:c.1459G>T, NM_001166436.2:c.1459G>T, NP_002206.2:p.Val775Leu, NP_001159906.1:p.Val633Leu, NP_001159907.1:p.Val487Leu, NP_001159908.1:p.Val487Leu

Select item 14852326845.

rs1485232684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:52787022 (GRCh38)
3:52821038 (GRCh37)
Canonical SPDI:: NC_000003.12:52787021:C:A
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.52787022C>A, NC_000003.11:g.52821038C>A, NG_016005.1:g.14431C>A, NM_002215.4:c.1811C>A, NM_002215.3:c.1811C>A, NM_001166434.3:c.1385C>A, NM_001166434.2:c.1385C>A, NM_001166435.2:c.947C>A, NM_001166436.2:c.947C>A, NP_002206.2:p.Thr604Asn, NP_001159906.1:p.Thr462Asn, NP_001159907.1:p.Thr316Asn, NP_001159908.1:p.Thr316Asn

Select item 14848122626.

rs1484812262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52784361 (GRCh38)
3:52818377 (GRCh37)
Canonical SPDI:: NC_000003.12:52784360:T:C
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52784361T>C, NC_000003.11:g.52818377T>C, NG_016005.1:g.11770T>C, NM_002215.4:c.1291T>C, NM_002215.3:c.1291T>C, NM_001166434.3:c.865T>C, NM_001166434.2:c.865T>C, NM_001166435.2:c.427T>C, NM_001166436.2:c.427T>C, NP_002206.2:p.Tyr431His, NP_001159906.1:p.Tyr289His, NP_001159907.1:p.Tyr143His, NP_001159908.1:p.Tyr143His

Select item 14838264567.

rs1483826456 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:52787022 (GRCh38)
3:52821038 (GRCh37)
Canonical SPDI:: NC_000003.12:52787021:CCCC:CCC
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52787025del, NC_000003.11:g.52821041del, NG_016005.1:g.14434del, NM_002215.4:c.1814del, NM_002215.3:c.1814del, NM_001166434.3:c.1388del, NM_001166434.2:c.1388del, NM_001166435.2:c.950del, NM_001166436.2:c.950del, NP_002206.2:p.Pro605fs, NP_001159906.1:p.Pro463fs, NP_001159907.1:p.Pro317fs, NP_001159908.1:p.Pro317fs

Select item 14837148938.

rs1483714893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:52788281 (GRCh38)
3:52822297 (GRCh37)
Canonical SPDI:: NC_000003.12:52788280:C:A,NC_000003.12:52788280:C:T
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52788281C>A, NC_000003.12:g.52788281C>T, NC_000003.11:g.52822297C>A, NC_000003.11:g.52822297C>T, NG_016005.1:g.15690C>A, NG_016005.1:g.15690C>T, NM_002215.4:c.2055C>A, NM_002215.4:c.2055C>T, NM_002215.3:c.2055C>A, NM_002215.3:c.2055C>T, NM_001166434.3:c.1629C>A, NM_001166434.3:c.1629C>T, NM_001166434.2:c.1629C>A, NM_001166434.2:c.1629C>T, NM_001166435.2:c.1191C>A, NM_001166435.2:c.1191C>T, NM_001166436.2:c.1191C>A, NM_001166436.2:c.1191C>T

Select item 14835257559.

rs1483525755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52788292 (GRCh38)
3:52822308 (GRCh37)
Canonical SPDI:: NC_000003.12:52788291:A:G
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/3 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52788292A>G, NC_000003.11:g.52822308A>G, NG_016005.1:g.15701A>G, NM_002215.4:c.2066A>G, NM_002215.3:c.2066A>G, NM_001166434.3:c.1640A>G, NM_001166434.2:c.1640A>G, NM_001166435.2:c.1202A>G, NM_001166436.2:c.1202A>G, NP_002206.2:p.Asn689Ser, NP_001159906.1:p.Asn547Ser, NP_001159907.1:p.Asn401Ser, NP_001159908.1:p.Asn401Ser

Select item 148284445010.

rs1482844450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:52786353 (GRCh38)
3:52820369 (GRCh37)
Canonical SPDI:: NC_000003.12:52786352:T:A,NC_000003.12:52786352:T:C
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52786353T>A, NC_000003.12:g.52786353T>C, NC_000003.11:g.52820369T>A, NC_000003.11:g.52820369T>C, NG_016005.1:g.13762T>A, NG_016005.1:g.13762T>C, NM_002215.4:c.1652T>A, NM_002215.4:c.1652T>C, NM_002215.3:c.1652T>A, NM_002215.3:c.1652T>C, NM_001166434.3:c.1226T>A, NM_001166434.3:c.1226T>C, NM_001166434.2:c.1226T>A, NM_001166434.2:c.1226T>C, NM_001166435.2:c.788T>A, NM_001166435.2:c.788T>C, NM_001166436.2:c.788T>A, NM_001166436.2:c.788T>C, NP_002206.2:p.Leu551His, NP_002206.2:p.Leu551Pro, NP_001159906.1:p.Leu409His, NP_001159906.1:p.Leu409Pro, NP_001159907.1:p.Leu263His, NP_001159907.1:p.Leu263Pro, NP_001159908.1:p.Leu263His, NP_001159908.1:p.Leu263Pro

Select item 148027187611.

rs1480271876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52782245 (GRCh38)
3:52816261 (GRCh37)
Canonical SPDI:: NC_000003.12:52782244:T:C
Gene:: ITIH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.52782245T>C, NC_000003.11:g.52816261T>C, NG_016005.1:g.9654T>C, NM_002215.4:c.908T>C, NM_002215.3:c.908T>C, NM_001166434.3:c.482T>C, NM_001166434.2:c.482T>C, NM_001166435.2:c.44T>C, NM_001166436.2:c.44T>C, NP_002206.2:p.Met303Thr, NP_001159906.1:p.Met161Thr, NP_001159907.1:p.Met15Thr, NP_001159908.1:p.Met15Thr

Select item 147943992012.

rs1479439920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52791827 (GRCh38)
3:52825843 (GRCh37)
Canonical SPDI:: NC_000003.12:52791826:G:A
Gene:: ITIH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52791827G>A, NC_000003.11:g.52825843G>A, NG_016005.1:g.19236G>A, NM_002215.4:c.2652G>A, NM_002215.3:c.2652G>A, NM_001166434.3:c.2226G>A, NM_001166434.2:c.2226G>A, NM_001166435.2:c.1788G>A, NM_001166436.2:c.1788G>A

Select item 147905451613.

rs1479054516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:52783121 (GRCh38)
3:52817137 (GRCh37)
Canonical SPDI:: NC_000003.12:52783120:T:A
Gene:: ITIH1 (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_000003.12:g.52783121T>A, NC_000003.11:g.52817137T>A, NG_016005.1:g.10530T>A, NM_002215.4:c.1095T>A, NM_002215.3:c.1095T>A, NM_001166434.3:c.669T>A, NM_001166434.2:c.669T>A, NM_001166435.2:c.231T>A, NM_001166436.2:c.231T>A, NP_002206.2:p.Asp365Glu, NP_001159906.1:p.Asp223Glu, NP_001159907.1:p.Asp77Glu, NP_001159908.1:p.Asp77Glu

Select item 147636980014.

rs1476369800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52791580 (GRCh38)
3:52825596 (GRCh37)
Canonical SPDI:: NC_000003.12:52791579:A:G
Gene:: ITIH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000003.12:g.52791580A>G, NC_000003.11:g.52825596A>G, NG_016005.1:g.18989A>G, NM_002215.4:c.2558A>G, NM_002215.3:c.2558A>G, NM_001166434.3:c.2132A>G, NM_001166434.2:c.2132A>G, NM_001166435.2:c.1694A>G, NM_001166436.2:c.1694A>G, NP_002206.2:p.Lys853Arg, NP_001159906.1:p.Lys711Arg, NP_001159907.1:p.Lys565Arg, NP_001159908.1:p.Lys565Arg

Select item 147526045515.

rs1475260455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:52787028 (GRCh38)
3:52821044 (GRCh37)
Canonical SPDI:: NC_000003.12:52787027:T:G
Gene:: ITIH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52787028T>G, NC_000003.11:g.52821044T>G, NG_016005.1:g.14437T>G, NM_002215.4:c.1817T>G, NM_002215.3:c.1817T>G, NM_001166434.3:c.1391T>G, NM_001166434.2:c.1391T>G, NM_001166435.2:c.953T>G, NM_001166436.2:c.953T>G, NP_002206.2:p.Leu606Arg, NP_001159906.1:p.Leu464Arg, NP_001159907.1:p.Leu318Arg, NP_001159908.1:p.Leu318Arg

Select item 147423467916.

rs1474234679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52784325 (GRCh38)
3:52818341 (GRCh37)
Canonical SPDI:: NC_000003.12:52784324:A:G
Gene:: ITIH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52784325A>G, NC_000003.11:g.52818341A>G, NG_016005.1:g.11734A>G, NM_002215.4:c.1255A>G, NM_002215.3:c.1255A>G, NM_001166434.3:c.829A>G, NM_001166434.2:c.829A>G, NM_001166435.2:c.391A>G, NM_001166436.2:c.391A>G, NP_002206.2:p.Asn419Asp, NP_001159906.1:p.Asn277Asp, NP_001159907.1:p.Asn131Asp, NP_001159908.1:p.Asn131Asp

Select item 147219497017.

rs1472194970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52785109 (GRCh38)
3:52819125 (GRCh37)
Canonical SPDI:: NC_000003.12:52785108:T:C
Gene:: ITIH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52785109T>C, NC_000003.11:g.52819125T>C, NG_016005.1:g.12518T>C, NM_002215.4:c.1473T>C, NM_002215.3:c.1473T>C, NM_001166434.3:c.1047T>C, NM_001166434.2:c.1047T>C, NM_001166435.2:c.609T>C, NM_001166436.2:c.609T>C

Select item 147013345318.

rs1470133453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52789687 (GRCh38)
3:52823703 (GRCh37)
Canonical SPDI:: NC_000003.12:52789686:G:T
Gene:: ITIH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.52789687G>T, NC_000003.11:g.52823703G>T, NG_016005.1:g.17096G>T, NM_002215.4:c.2154G>T, NM_002215.3:c.2154G>T, NM_001166434.3:c.1728G>T, NM_001166434.2:c.1728G>T, NM_001166435.2:c.1290G>T, NM_001166436.2:c.1290G>T, NP_002206.2:p.Lys718Asn, NP_001159906.1:p.Lys576Asn, NP_001159907.1:p.Lys430Asn, NP_001159908.1:p.Lys430Asn

Select item 146996184419.

rs1469961844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52791585 (GRCh38)
3:52825601 (GRCh37)
Canonical SPDI:: NC_000003.12:52791584:G:T
Gene:: ITIH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52791585G>T, NC_000003.11:g.52825601G>T, NG_016005.1:g.18994G>T, NM_002215.4:c.2563G>T, NM_002215.3:c.2563G>T, NM_001166434.3:c.2137G>T, NM_001166434.2:c.2137G>T, NM_001166435.2:c.1699G>T, NM_001166436.2:c.1699G>T, NP_002206.2:p.Asp855Tyr, NP_001159906.1:p.Asp713Tyr, NP_001159907.1:p.Asp567Tyr, NP_001159908.1:p.Asp567Tyr

Select item 146887132020.

rs1468871320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:52783102 (GRCh38)
3:52817118 (GRCh37)
Canonical SPDI:: NC_000003.12:52783101:T:G
Gene:: ITIH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52783102T>G, NC_000003.11:g.52817118T>G, NG_016005.1:g.10511T>G, NM_002215.4:c.1076T>G, NM_002215.3:c.1076T>G, NM_001166434.3:c.650T>G, NM_001166434.2:c.650T>G, NM_001166435.2:c.212T>G, NM_001166436.2:c.212T>G, NP_002206.2:p.Val359Gly, NP_001159906.1:p.Val217Gly, NP_001159907.1:p.Val71Gly, NP_001159908.1:p.Val71Gly

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