SNP Links for Protein (Select 21361583) - SNP

Select item 14875057101.

rs1487505710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102839802 (GRCh38)
8:103852030 (GRCh37)
Canonical SPDI:: NC_000008.11:102839801:C:A
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0007/6 (ALFA)
HGVS:: NC_000008.11:g.102839802C>A, NC_000008.10:g.103852030C>A, NM_015878.5:c.124G>T, NM_015878.4:c.124G>T, NM_148174.4:c.124G>T, NM_148174.3:c.124G>T, NM_148174.2:c.124G>T, NM_001301668.3:c.124G>T, NM_001301668.2:c.124G>T, NM_001301668.1:c.124G>T, NM_001363014.1:c.-529G>T, XM_047421860.1:c.124G>T, XM_047421862.1:c.124G>T, NM_001363083.1:c.124G>T, XM_047421861.1:c.124G>T, NM_001363024.1:c.124G>T, NM_001363012.1:c.124G>T, NM_001363013.1:c.-529G>T, NM_001363011.1:c.124G>T, NM_001363010.1:c.124G>T, NP_056962.2:p.Val42Leu, NP_680479.1:p.Val42Leu, NP_001288597.1:p.Val42Leu, XP_047277816.1:p.Val42Leu, XP_047277818.1:p.Val42Leu, NP_001350012.1:p.Val42Leu, XP_047277817.1:p.Val42Leu, NP_001349953.1:p.Val42Leu, NP_001349941.1:p.Val42Leu, NP_001349940.1:p.Val42Leu, NP_001349939.1:p.Val42Leu

Select item 14800711922.

rs1480071192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:102843646 (GRCh38)
8:103855874 (GRCh37)
Canonical SPDI:: NC_000008.11:102843645:C:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102843646C>G, NC_000008.10:g.103855874C>G, NM_015878.5:c.7G>C, NM_015878.4:c.7G>C, NM_148174.4:c.7G>C, NM_148174.3:c.7G>C, NM_148174.2:c.7G>C, NM_001301668.3:c.7G>C, NM_001301668.2:c.7G>C, NM_001301668.1:c.7G>C, NM_001363014.1:c.-646G>C, XM_047421860.1:c.7G>C, XM_047421862.1:c.7G>C, NM_001363083.1:c.7G>C, XM_047421861.1:c.7G>C, NM_001363024.1:c.7G>C, NM_001363012.1:c.7G>C, NM_001363013.1:c.-646G>C, NM_001363011.1:c.7G>C, NM_001363010.1:c.7G>C, NP_056962.2:p.Gly3Arg, NP_680479.1:p.Gly3Arg, NP_001288597.1:p.Gly3Arg, XP_047277816.1:p.Gly3Arg, XP_047277818.1:p.Gly3Arg, NP_001350012.1:p.Gly3Arg, XP_047277817.1:p.Gly3Arg, NP_001349953.1:p.Gly3Arg, NP_001349941.1:p.Gly3Arg, NP_001349940.1:p.Gly3Arg, NP_001349939.1:p.Gly3Arg

Select item 14790111553.

rs1479011155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:102828633 (GRCh38)
8:103840861 (GRCh37)
Canonical SPDI:: NC_000008.11:102828632:C:A,NC_000008.11:102828632:C:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102828633C>A, NC_000008.11:g.102828633C>G, NC_000008.10:g.103840861C>A, NC_000008.10:g.103840861C>G, NM_015878.5:c.1281G>T, NM_015878.5:c.1281G>C, NM_015878.4:c.1281G>T, NM_015878.4:c.1281G>C, NM_148174.4:c.1281G>T, NM_148174.4:c.1281G>C, NM_148174.3:c.1281G>T, NM_148174.3:c.1281G>C, NM_148174.2:c.1281G>T, NM_148174.2:c.1281G>C, NM_001363014.1:c.780G>T, NM_001363014.1:c.780G>C, XM_047421860.1:c.1281G>T, XM_047421860.1:c.1281G>C, XM_047421862.1:c.1278G>T, XM_047421862.1:c.1278G>C, NM_001363083.1:c.1281G>T, NM_001363083.1:c.1281G>C, XM_047421861.1:c.1278G>T, XM_047421861.1:c.1278G>C, NM_001363024.1:c.1281G>T, NM_001363024.1:c.1281G>C, NM_001363012.1:c.1278G>T, NM_001363012.1:c.1278G>C, NM_001363013.1:c.780G>T, NM_001363013.1:c.780G>C, NM_001363011.1:c.1278G>T, NM_001363011.1:c.1278G>C, NM_001363010.1:c.1278G>T, NM_001363010.1:c.1278G>C, NP_056962.2:p.Lys427Asn, NP_056962.2:p.Lys427Asn, NP_680479.1:p.Lys427Asn, NP_680479.1:p.Lys427Asn, NP_001349943.1:p.Lys260Asn, NP_001349943.1:p.Lys260Asn, XP_047277816.1:p.Lys427Asn, XP_047277816.1:p.Lys427Asn, XP_047277818.1:p.Lys426Asn, XP_047277818.1:p.Lys426Asn, NP_001350012.1:p.Lys427Asn, NP_001350012.1:p.Lys427Asn, XP_047277817.1:p.Lys426Asn, XP_047277817.1:p.Lys426Asn, NP_001349953.1:p.Lys427Asn, NP_001349953.1:p.Lys427Asn, NP_001349941.1:p.Lys426Asn, NP_001349941.1:p.Lys426Asn, NP_001349942.1:p.Lys260Asn, NP_001349942.1:p.Lys260Asn, NP_001349940.1:p.Lys426Asn, NP_001349940.1:p.Lys426Asn, NP_001349939.1:p.Lys426Asn, NP_001349939.1:p.Lys426Asn

Select item 14788164494.

rs1478816449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102838861 (GRCh38)
8:103851089 (GRCh37)
Canonical SPDI:: NC_000008.11:102838860:A:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102838861A>G, NC_000008.10:g.103851089A>G, NM_015878.5:c.332T>C, NM_015878.4:c.332T>C, NM_148174.4:c.332T>C, NM_148174.3:c.332T>C, NM_148174.2:c.332T>C, NM_001301668.3:c.332T>C, NM_001301668.2:c.332T>C, NM_001301668.1:c.332T>C, NM_001363014.1:c.-321T>C, XM_047421860.1:c.332T>C, XM_047421862.1:c.332T>C, NM_001363083.1:c.332T>C, XM_047421861.1:c.332T>C, NM_001363024.1:c.332T>C, NM_001363012.1:c.332T>C, NM_001363013.1:c.-321T>C, NM_001363011.1:c.332T>C, NM_001363010.1:c.332T>C, NP_056962.2:p.Ile111Thr, NP_680479.1:p.Ile111Thr, NP_001288597.1:p.Ile111Thr, XP_047277816.1:p.Ile111Thr, XP_047277818.1:p.Ile111Thr, NP_001350012.1:p.Ile111Thr, XP_047277817.1:p.Ile111Thr, NP_001349953.1:p.Ile111Thr, NP_001349941.1:p.Ile111Thr, NP_001349940.1:p.Ile111Thr, NP_001349939.1:p.Ile111Thr

Select item 14770900715.

rs1477090071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102839712 (GRCh38)
8:103851940 (GRCh37)
Canonical SPDI:: NC_000008.11:102839711:A:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.102839712A>G, NC_000008.10:g.103851940A>G, NM_015878.5:c.214T>C, NM_015878.4:c.214T>C, NM_148174.4:c.214T>C, NM_148174.3:c.214T>C, NM_148174.2:c.214T>C, NM_001301668.3:c.214T>C, NM_001301668.2:c.214T>C, NM_001301668.1:c.214T>C, NM_001363014.1:c.-439T>C, XM_047421860.1:c.214T>C, XM_047421862.1:c.214T>C, NM_001363083.1:c.214T>C, XM_047421861.1:c.214T>C, NM_001363024.1:c.214T>C, NM_001363012.1:c.214T>C, NM_001363013.1:c.-439T>C, NM_001363011.1:c.214T>C, NM_001363010.1:c.214T>C, NP_056962.2:p.Ser72Pro, NP_680479.1:p.Ser72Pro, NP_001288597.1:p.Ser72Pro, XP_047277816.1:p.Ser72Pro, XP_047277818.1:p.Ser72Pro, NP_001350012.1:p.Ser72Pro, XP_047277817.1:p.Ser72Pro, NP_001349953.1:p.Ser72Pro, NP_001349941.1:p.Ser72Pro, NP_001349940.1:p.Ser72Pro, NP_001349939.1:p.Ser72Pro

Select item 14754944066.

rs1475494406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:102839743 (GRCh38)
8:103851971 (GRCh37)
Canonical SPDI:: NC_000008.11:102839742:C:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_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_000008.11:g.102839743C>G, NC_000008.10:g.103851971C>G, NM_015878.5:c.183G>C, NM_015878.4:c.183G>C, NM_148174.4:c.183G>C, NM_148174.3:c.183G>C, NM_148174.2:c.183G>C, NM_001301668.3:c.183G>C, NM_001301668.2:c.183G>C, NM_001301668.1:c.183G>C, NM_001363014.1:c.-470G>C, XM_047421860.1:c.183G>C, XM_047421862.1:c.183G>C, NM_001363083.1:c.183G>C, XM_047421861.1:c.183G>C, NM_001363024.1:c.183G>C, NM_001363012.1:c.183G>C, NM_001363013.1:c.-470G>C, NM_001363011.1:c.183G>C, NM_001363010.1:c.183G>C, NP_056962.2:p.Gln61His, NP_680479.1:p.Gln61His, NP_001288597.1:p.Gln61His, XP_047277816.1:p.Gln61His, XP_047277818.1:p.Gln61His, NP_001350012.1:p.Gln61His, XP_047277817.1:p.Gln61His, NP_001349953.1:p.Gln61His, NP_001349941.1:p.Gln61His, NP_001349940.1:p.Gln61His, NP_001349939.1:p.Gln61His

Select item 14743678137.

rs1474367813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102829936 (GRCh38)
8:103842164 (GRCh37)
Canonical SPDI:: NC_000008.11:102829935:A:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.102829936A>G, NC_000008.10:g.103842164A>G, NM_015878.5:c.905T>C, NM_015878.4:c.905T>C, NM_148174.4:c.905T>C, NM_148174.3:c.905T>C, NM_148174.2:c.905T>C, NM_001301668.3:c.905T>C, NM_001301668.2:c.905T>C, NM_001301668.1:c.905T>C, NM_001363014.1:c.404T>C, XM_047421860.1:c.905T>C, NM_001363083.1:c.905T>C, NM_001363024.1:c.905T>C, NM_001363013.1:c.404T>C, NP_056962.2:p.Val302Ala, NP_680479.1:p.Val302Ala, NP_001288597.1:p.Val302Ala, NP_001349943.1:p.Val135Ala, XP_047277816.1:p.Val302Ala, NP_001350012.1:p.Val302Ala, NP_001349953.1:p.Val302Ala, NP_001349942.1:p.Val135Ala

Select item 14726952828.

rs1472695282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102833131 (GRCh38)
8:103845359 (GRCh37)
Canonical SPDI:: NC_000008.11:102833130:C:T
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000071/2 (TOMMO)
HGVS:: NC_000008.11:g.102833131C>T, NC_000008.10:g.103845359C>T, NM_015878.5:c.829G>A, NM_015878.4:c.829G>A, NM_148174.4:c.829G>A, NM_148174.3:c.829G>A, NM_148174.2:c.829G>A, NM_001301668.3:c.829G>A, NM_001301668.2:c.829G>A, NM_001301668.1:c.829G>A, NM_001363014.1:c.328G>A, XM_047421860.1:c.829G>A, XM_047421862.1:c.829G>A, NM_001363083.1:c.829G>A, XM_047421861.1:c.829G>A, NM_001363024.1:c.829G>A, NM_001363012.1:c.829G>A, NM_001363013.1:c.328G>A, NM_001363011.1:c.829G>A, NM_001363010.1:c.829G>A, NP_056962.2:p.Val277Met, NP_680479.1:p.Val277Met, NP_001288597.1:p.Val277Met, NP_001349943.1:p.Val110Met, XP_047277816.1:p.Val277Met, XP_047277818.1:p.Val277Met, NP_001350012.1:p.Val277Met, XP_047277817.1:p.Val277Met, NP_001349953.1:p.Val277Met, NP_001349941.1:p.Val277Met, NP_001349942.1:p.Val110Met, NP_001349940.1:p.Val277Met, NP_001349939.1:p.Val277Met

Select item 14706082509.

rs1470608250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102829351 (GRCh38)
8:103841579 (GRCh37)
Canonical SPDI:: NC_000008.11:102829350:C:T
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.102829351C>T, NC_000008.10:g.103841579C>T, NM_015878.5:c.1156G>A, NM_015878.4:c.1156G>A, NM_148174.4:c.1156G>A, NM_148174.3:c.1156G>A, NM_148174.2:c.1156G>A, NM_001363014.1:c.655G>A, XM_047421860.1:c.1156G>A, XM_047421862.1:c.1153G>A, NM_001363083.1:c.1156G>A, XM_047421861.1:c.1153G>A, NM_001363024.1:c.1156G>A, NM_001363012.1:c.1153G>A, NM_001363013.1:c.655G>A, NM_001363011.1:c.1153G>A, NM_001363010.1:c.1153G>A, NP_056962.2:p.Ala386Thr, NP_680479.1:p.Ala386Thr, NP_001349943.1:p.Ala219Thr, XP_047277816.1:p.Ala386Thr, XP_047277818.1:p.Ala385Thr, NP_001350012.1:p.Ala386Thr, XP_047277817.1:p.Ala385Thr, NP_001349953.1:p.Ala386Thr, NP_001349941.1:p.Ala385Thr, NP_001349942.1:p.Ala219Thr, NP_001349940.1:p.Ala385Thr, NP_001349939.1:p.Ala385Thr

Select item 146613282410.

rs1466132824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:102829479 (GRCh38)
8:103841707 (GRCh37)
Canonical SPDI:: NC_000008.11:102829478:T:C
Gene:: AZIN1 (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)
HGVS:: NC_000008.11:g.102829479T>C, NC_000008.10:g.103841707T>C, NM_015878.5:c.1028A>G, NM_015878.4:c.1028A>G, NM_148174.4:c.1028A>G, NM_148174.3:c.1028A>G, NM_148174.2:c.1028A>G, NM_001301668.3:c.1028A>G, NM_001301668.2:c.1028A>G, NM_001301668.1:c.1028A>G, NM_001363014.1:c.527A>G, XM_047421860.1:c.1028A>G, XM_047421862.1:c.1025A>G, NM_001363083.1:c.1028A>G, XM_047421861.1:c.1025A>G, NM_001363024.1:c.1028A>G, NM_001363012.1:c.1025A>G, NM_001363013.1:c.527A>G, NM_001363011.1:c.1025A>G, NM_001363010.1:c.1025A>G, NP_056962.2:p.Lys343Arg, NP_680479.1:p.Lys343Arg, NP_001288597.1:p.Lys343Arg, NP_001349943.1:p.Lys176Arg, XP_047277816.1:p.Lys343Arg, XP_047277818.1:p.Lys342Arg, NP_001350012.1:p.Lys343Arg, XP_047277817.1:p.Lys342Arg, NP_001349953.1:p.Lys343Arg, NP_001349941.1:p.Lys342Arg, NP_001349942.1:p.Lys176Arg, NP_001349940.1:p.Lys342Arg, NP_001349939.1:p.Lys342Arg

Select item 146305015711.

rs1463050157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:102839745 (GRCh38)
8:103851973 (GRCh37)
Canonical SPDI:: NC_000008.11:102839744:G:C
Gene:: AZIN1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102839745G>C, NC_000008.10:g.103851973G>C, NM_015878.5:c.181C>G, NM_015878.4:c.181C>G, NM_148174.4:c.181C>G, NM_148174.3:c.181C>G, NM_148174.2:c.181C>G, NM_001301668.3:c.181C>G, NM_001301668.2:c.181C>G, NM_001301668.1:c.181C>G, NM_001363014.1:c.-472C>G, XM_047421860.1:c.181C>G, XM_047421862.1:c.181C>G, NM_001363083.1:c.181C>G, XM_047421861.1:c.181C>G, NM_001363024.1:c.181C>G, NM_001363012.1:c.181C>G, NM_001363013.1:c.-472C>G, NM_001363011.1:c.181C>G, NM_001363010.1:c.181C>G, NP_056962.2:p.Gln61Glu, NP_680479.1:p.Gln61Glu, NP_001288597.1:p.Gln61Glu, XP_047277816.1:p.Gln61Glu, XP_047277818.1:p.Gln61Glu, NP_001350012.1:p.Gln61Glu, XP_047277817.1:p.Gln61Glu, NP_001349953.1:p.Gln61Glu, NP_001349941.1:p.Gln61Glu, NP_001349940.1:p.Gln61Glu, NP_001349939.1:p.Gln61Glu

Select item 145926210912.

rs1459262109 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATCTG>- [Show Flanks]
Chromosome:: 8:102829345 (GRCh38)
8:103841573 (GRCh37)
Canonical SPDI:: NC_000008.11:102829343:GAATCTG:G
Gene:: AZIN1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102829345_102829350del, NC_000008.10:g.103841573_103841578del, NM_015878.5:c.1158_1163del, NM_015878.4:c.1158_1163del, NM_148174.4:c.1158_1163del, NM_148174.3:c.1158_1163del, NM_148174.2:c.1158_1163del, NM_001363014.1:c.657_662del, XM_047421860.1:c.1158_1163del, XM_047421862.1:c.1155_1160del, NM_001363083.1:c.1158_1163del, XM_047421861.1:c.1155_1160del, NM_001363024.1:c.1158_1163del, NM_001363012.1:c.1155_1160del, NM_001363013.1:c.657_662del, NM_001363011.1:c.1155_1160del, NM_001363010.1:c.1155_1160del, NP_056962.2:p.Asp387_Ser388del, NP_680479.1:p.Asp387_Ser388del, NP_001349943.1:p.Asp220_Ser221del, XP_047277816.1:p.Asp387_Ser388del, XP_047277818.1:p.Asp386_Ser387del, NP_001350012.1:p.Asp387_Ser388del, XP_047277817.1:p.Asp386_Ser387del, NP_001349953.1:p.Asp387_Ser388del, NP_001349941.1:p.Asp386_Ser387del, NP_001349942.1:p.Asp220_Ser221del, NP_001349940.1:p.Asp386_Ser387del, NP_001349939.1:p.Asp386_Ser387del

Select item 145801268613.

rs1458012686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:102833084 (GRCh38)
8:103845312 (GRCh37)
Canonical SPDI:: NC_000008.11:102833083:A:T
Gene:: AZIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.102833084A>T, NC_000008.10:g.103845312A>T, NM_015878.5:c.876T>A, NM_015878.4:c.876T>A, NM_148174.4:c.876T>A, NM_148174.3:c.876T>A, NM_148174.2:c.876T>A, NM_001301668.3:c.876T>A, NM_001301668.2:c.876T>A, NM_001301668.1:c.876T>A, NM_001363014.1:c.375T>A, XM_047421860.1:c.876T>A, XM_047421862.1:c.876T>A, NM_001363083.1:c.876T>A, XM_047421861.1:c.876T>A, NM_001363024.1:c.876T>A, NM_001363012.1:c.876T>A, NM_001363013.1:c.375T>A, NM_001363011.1:c.876T>A, NM_001363010.1:c.876T>A

Select item 145639113714.

rs1456391137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:102843570 (GRCh38)
8:103855798 (GRCh37)
Canonical SPDI:: NC_000008.11:102843569:T:C
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102843570T>C, NC_000008.10:g.103855798T>C, NM_015878.5:c.83A>G, NM_015878.4:c.83A>G, NM_148174.4:c.83A>G, NM_148174.3:c.83A>G, NM_148174.2:c.83A>G, NM_001301668.3:c.83A>G, NM_001301668.2:c.83A>G, NM_001301668.1:c.83A>G, NM_001363014.1:c.-570A>G, XM_047421860.1:c.83A>G, XM_047421862.1:c.83A>G, NM_001363083.1:c.83A>G, XM_047421861.1:c.83A>G, NM_001363024.1:c.83A>G, NM_001363012.1:c.83A>G, NM_001363013.1:c.-570A>G, NM_001363011.1:c.83A>G, NM_001363010.1:c.83A>G, NP_056962.2:p.Tyr28Cys, NP_680479.1:p.Tyr28Cys, NP_001288597.1:p.Tyr28Cys, XP_047277816.1:p.Tyr28Cys, XP_047277818.1:p.Tyr28Cys, NP_001350012.1:p.Tyr28Cys, XP_047277817.1:p.Tyr28Cys, NP_001349953.1:p.Tyr28Cys, NP_001349941.1:p.Tyr28Cys, NP_001349940.1:p.Tyr28Cys, NP_001349939.1:p.Tyr28Cys

Select item 145455370815.

rs1454553708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:102833146 (GRCh38)
8:103845374 (GRCh37)
Canonical SPDI:: NC_000008.11:102833145:G:T
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.102833146G>T, NC_000008.10:g.103845374G>T, NM_015878.5:c.814C>A, NM_015878.4:c.814C>A, NM_148174.4:c.814C>A, NM_148174.3:c.814C>A, NM_148174.2:c.814C>A, NM_001301668.3:c.814C>A, NM_001301668.2:c.814C>A, NM_001301668.1:c.814C>A, NM_001363014.1:c.313C>A, XM_047421860.1:c.814C>A, XM_047421862.1:c.814C>A, NM_001363083.1:c.814C>A, XM_047421861.1:c.814C>A, NM_001363024.1:c.814C>A, NM_001363012.1:c.814C>A, NM_001363013.1:c.313C>A, NM_001363011.1:c.814C>A, NM_001363010.1:c.814C>A, NP_056962.2:p.Pro272Thr, NP_680479.1:p.Pro272Thr, NP_001288597.1:p.Pro272Thr, NP_001349943.1:p.Pro105Thr, XP_047277816.1:p.Pro272Thr, XP_047277818.1:p.Pro272Thr, NP_001350012.1:p.Pro272Thr, XP_047277817.1:p.Pro272Thr, NP_001349953.1:p.Pro272Thr, NP_001349941.1:p.Pro272Thr, NP_001349942.1:p.Pro105Thr, NP_001349940.1:p.Pro272Thr, NP_001349939.1:p.Pro272Thr

Select item 145211074316.

rs1452110743 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:102836346 (GRCh38)
8:103848575 (GRCh37)
Canonical SPDI:: NC_000008.11:102836346:C:CC
Gene:: AZIN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102836347dup, NC_000008.10:g.103848575dup, NM_015878.5:c.493dup, NM_015878.4:c.493dup, NM_148174.4:c.493dup, NM_148174.3:c.493dup, NM_148174.2:c.493dup, NM_001301668.3:c.493dup, NM_001301668.2:c.493dup, NM_001301668.1:c.493dup, NM_001363014.1:c.-9dup, XM_047421860.1:c.493dup, XM_047421862.1:c.493dup, NM_001363083.1:c.493dup, XM_047421861.1:c.493dup, NM_001363024.1:c.493dup, NM_001363012.1:c.493dup, NM_001363013.1:c.-9dup, NM_001363011.1:c.493dup, NM_001363010.1:c.493dup, NP_056962.2:p.Glu165fs, NP_680479.1:p.Glu165fs, NP_001288597.1:p.Glu165fs, XP_047277816.1:p.Glu165fs, XP_047277818.1:p.Glu165fs, NP_001350012.1:p.Glu165fs, XP_047277817.1:p.Glu165fs, NP_001349953.1:p.Glu165fs, NP_001349941.1:p.Glu165fs, NP_001349940.1:p.Glu165fs, NP_001349939.1:p.Glu165fs

Select item 145090679517.

rs1450906795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:102838759 (GRCh38)
8:103850987 (GRCh37)
Canonical SPDI:: NC_000008.11:102838758:T:C
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102838759T>C, NC_000008.10:g.103850987T>C, NM_015878.5:c.434A>G, NM_015878.4:c.434A>G, NM_148174.4:c.434A>G, NM_148174.3:c.434A>G, NM_148174.2:c.434A>G, NM_001301668.3:c.434A>G, NM_001301668.2:c.434A>G, NM_001301668.1:c.434A>G, NM_001363014.1:c.-219A>G, XM_047421860.1:c.434A>G, XM_047421862.1:c.434A>G, NM_001363083.1:c.434A>G, XM_047421861.1:c.434A>G, NM_001363024.1:c.434A>G, NM_001363012.1:c.434A>G, NM_001363013.1:c.-219A>G, NM_001363011.1:c.434A>G, NM_001363010.1:c.434A>G, NP_056962.2:p.Asn145Ser, NP_680479.1:p.Asn145Ser, NP_001288597.1:p.Asn145Ser, XP_047277816.1:p.Asn145Ser, XP_047277818.1:p.Asn145Ser, NP_001350012.1:p.Asn145Ser, XP_047277817.1:p.Asn145Ser, NP_001349953.1:p.Asn145Ser, NP_001349941.1:p.Asn145Ser, NP_001349940.1:p.Asn145Ser, NP_001349939.1:p.Asn145Ser

Select item 144832318418.

rs1448323184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102833169 (GRCh38)
8:103845397 (GRCh37)
Canonical SPDI:: NC_000008.11:102833168:G:A
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102833169G>A, NC_000008.10:g.103845397G>A, NM_015878.5:c.791C>T, NM_015878.4:c.791C>T, NM_148174.4:c.791C>T, NM_148174.3:c.791C>T, NM_148174.2:c.791C>T, NM_001301668.3:c.791C>T, NM_001301668.2:c.791C>T, NM_001301668.1:c.791C>T, NM_001363014.1:c.290C>T, XM_047421860.1:c.791C>T, XM_047421862.1:c.791C>T, NM_001363083.1:c.791C>T, XM_047421861.1:c.791C>T, NM_001363024.1:c.791C>T, NM_001363012.1:c.791C>T, NM_001363013.1:c.290C>T, NM_001363011.1:c.791C>T, NM_001363010.1:c.791C>T, NP_056962.2:p.Ser264Phe, NP_680479.1:p.Ser264Phe, NP_001288597.1:p.Ser264Phe, NP_001349943.1:p.Ser97Phe, XP_047277816.1:p.Ser264Phe, XP_047277818.1:p.Ser264Phe, NP_001350012.1:p.Ser264Phe, XP_047277817.1:p.Ser264Phe, NP_001349953.1:p.Ser264Phe, NP_001349941.1:p.Ser264Phe, NP_001349942.1:p.Ser97Phe, NP_001349940.1:p.Ser264Phe, NP_001349939.1:p.Ser264Phe

Select item 144673264519.

rs1446732645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102836352 (GRCh38)
8:103848580 (GRCh37)
Canonical SPDI:: NC_000008.11:102836351:C:A
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_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_000008.11:g.102836352C>A, NC_000008.10:g.103848580C>A, NM_015878.5:c.488G>T, NM_015878.4:c.488G>T, NM_148174.4:c.488G>T, NM_148174.3:c.488G>T, NM_148174.2:c.488G>T, NM_001301668.3:c.488G>T, NM_001301668.2:c.488G>T, NM_001301668.1:c.488G>T, NM_001363014.1:c.-14G>T, XM_047421860.1:c.488G>T, XM_047421862.1:c.488G>T, NM_001363083.1:c.488G>T, XM_047421861.1:c.488G>T, NM_001363024.1:c.488G>T, NM_001363012.1:c.488G>T, NM_001363013.1:c.-14G>T, NM_001363011.1:c.488G>T, NM_001363010.1:c.488G>T, NP_056962.2:p.Gly163Val, NP_680479.1:p.Gly163Val, NP_001288597.1:p.Gly163Val, XP_047277816.1:p.Gly163Val, XP_047277818.1:p.Gly163Val, NP_001350012.1:p.Gly163Val, XP_047277817.1:p.Gly163Val, NP_001349953.1:p.Gly163Val, NP_001349941.1:p.Gly163Val, NP_001349940.1:p.Gly163Val, NP_001349939.1:p.Gly163Val

Select item 144609511320.

rs1446095113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102829376 (GRCh38)
8:103841604 (GRCh37)
Canonical SPDI:: NC_000008.11:102829375:A:G
Gene:: AZIN1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102829376A>G, NC_000008.10:g.103841604A>G, NM_015878.5:c.1131T>C, NM_015878.4:c.1131T>C, NM_148174.4:c.1131T>C, NM_148174.3:c.1131T>C, NM_148174.2:c.1131T>C, NM_001363014.1:c.630T>C, XM_047421860.1:c.1131T>C, XM_047421862.1:c.1128T>C, NM_001363083.1:c.1131T>C, XM_047421861.1:c.1128T>C, NM_001363024.1:c.1131T>C, NM_001363012.1:c.1128T>C, NM_001363013.1:c.630T>C, NM_001363011.1:c.1128T>C, NM_001363010.1:c.1128T>C

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Result Filters

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Additional filters

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Items: 1 to 20 of 334

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