SNP Links for Protein (Select 1060099116) - SNP

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Links from Protein

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Select item 14905502891.

rs1490550289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:61103961 (GRCh38)
2:61331096 (GRCh37)
Canonical SPDI:: NC_000002.12:61103960:G:C
Gene:: SANBR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.61103961G>C, NC_000002.11:g.61331096G>C, NM_032506.4:c.1474G>C, NM_032506.3:c.1474G>C, NM_032506.2:c.1474G>C, NM_001129993.3:c.1474G>C, NM_001129993.2:c.1474G>C, NM_001129993.1:c.1474G>C, NM_001330436.2:c.1474G>C, NM_001330436.1:c.1474G>C, NM_001330432.2:c.1036G>C, NM_001330432.1:c.1036G>C, NM_001330434.2:c.1321G>C, NM_001330434.1:c.1321G>C, NM_001330433.2:c.1474G>C, NM_001330433.1:c.1474G>C, NM_001330435.2:c.1474G>C, NM_001330435.1:c.1474G>C, NP_115895.2:p.Asp492His, NP_001123465.1:p.Asp492His, NP_001317365.1:p.Asp492His, NP_001317361.1:p.Asp346His, NP_001317363.1:p.Asp441His, NP_001317362.1:p.Asp492His, NP_001317364.1:p.Asp492His

Select item 14889033002.

rs1488903300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:61070446 (GRCh38)
2:61297581 (GRCh37)
Canonical SPDI:: NC_000002.12:61070445:G:A
Gene:: SANBR (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61070446G>A, NC_000002.11:g.61297581G>A, NM_032506.4:c.96G>A, NM_032506.3:c.96G>A, NM_032506.2:c.96G>A, NM_001129993.3:c.96G>A, NM_001129993.2:c.96G>A, NM_001129993.1:c.96G>A, NM_001330436.2:c.96G>A, NM_001330436.1:c.96G>A, NM_001330432.2:c.-249G>A, NM_001330432.1:c.-249G>A, NM_001330434.2:c.96G>A, NM_001330434.1:c.96G>A, NM_001330433.2:c.96G>A, NM_001330433.1:c.96G>A, NM_001330435.2:c.96G>A, NM_001330435.1:c.96G>A

Select item 14886808163.

rs1488680816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:61118079 (GRCh38)
2:61345214 (GRCh37)
Canonical SPDI:: NC_000002.12:61118078:G:T
Gene:: SANBR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61118079G>T, NC_000002.11:g.61345214G>T, NM_032506.4:c.1991G>T, NM_032506.3:c.1991G>T, NM_032506.2:c.1991G>T, NM_001129993.3:c.1991G>T, NM_001129993.2:c.1991G>T, NM_001129993.1:c.1991G>T, NM_001330436.2:c.1991G>T, NM_001330436.1:c.1991G>T, NM_001330432.2:c.1553G>T, NM_001330432.1:c.1553G>T, NM_001330434.2:c.1838G>T, NM_001330434.1:c.1838G>T, NM_001330433.2:c.1991G>T, NM_001330433.1:c.1991G>T, NM_001330435.2:c.1991G>T, NM_001330435.1:c.1991G>T, NP_115895.2:p.Gly664Val, NP_001123465.1:p.Gly664Val, NP_001317365.1:p.Gly664Val, NP_001317361.1:p.Gly518Val, NP_001317363.1:p.Gly613Val, NP_001317362.1:p.Gly664Val, NP_001317364.1:p.Gly664Val

Select item 14865847774.

rs1486584777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:61097764 (GRCh38)
2:61324899 (GRCh37)
Canonical SPDI:: NC_000002.12:61097763:C:T
Gene:: SANBR (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61097764C>T, NC_000002.11:g.61324899C>T, NM_032506.4:c.1277C>T, NM_032506.3:c.1277C>T, NM_032506.2:c.1277C>T, NM_001129993.3:c.1277C>T, NM_001129993.2:c.1277C>T, NM_001129993.1:c.1277C>T, NM_001330436.2:c.1277C>T, NM_001330436.1:c.1277C>T, NM_001330432.2:c.839C>T, NM_001330432.1:c.839C>T, NM_001330433.2:c.1277C>T, NM_001330433.1:c.1277C>T, NM_001330435.2:c.1277C>T, NM_001330435.1:c.1277C>T, NP_115895.2:p.Ala426Val, NP_001123465.1:p.Ala426Val, NP_001317365.1:p.Ala426Val, NP_001317361.1:p.Ala280Val, NP_001317362.1:p.Ala426Val, NP_001317364.1:p.Ala426Val

Select item 14858440835.

rs1485844083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:61134177 (GRCh38)
2:61361312 (GRCh37)
Canonical SPDI:: NC_000002.12:61134176:G:A
Gene:: SANBR (Varview), LOC105374759 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.61134177G>A, NC_000002.11:g.61361312G>A, NM_032506.4:c.2069G>A, NM_032506.3:c.2069G>A, NM_032506.2:c.2069G>A, NM_001330433.2:c.2069G>A, NM_001330433.1:c.2069G>A, NM_001330435.2:c.2069G>A, NM_001330435.1:c.2069G>A, NP_115895.2:p.Ser690Asn, NP_001317362.1:p.Ser690Asn, NP_001317364.1:p.Ser690Asn

Select item 14854054736.

rs1485405473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:61088188 (GRCh38)
2:61315323 (GRCh37)
Canonical SPDI:: NC_000002.12:61088187:T:G
Gene:: SANBR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61088188T>G, NC_000002.11:g.61315323T>G, NM_032506.4:c.920T>G, NM_032506.3:c.920T>G, NM_032506.2:c.920T>G, NM_001129993.3:c.920T>G, NM_001129993.2:c.920T>G, NM_001129993.1:c.920T>G, NM_001330436.2:c.920T>G, NM_001330436.1:c.920T>G, NM_001330432.2:c.482T>G, NM_001330432.1:c.482T>G, NM_001330434.2:c.920T>G, NM_001330434.1:c.920T>G, NM_001330433.2:c.920T>G, NM_001330433.1:c.920T>G, NM_001330435.2:c.920T>G, NM_001330435.1:c.920T>G, NP_115895.2:p.Leu307Arg, NP_001123465.1:p.Leu307Arg, NP_001317365.1:p.Leu307Arg, NP_001317361.1:p.Leu161Arg, NP_001317363.1:p.Leu307Arg, NP_001317362.1:p.Leu307Arg, NP_001317364.1:p.Leu307Arg

Select item 14837180047.

rs1483718004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:61073532 (GRCh38)
2:61300667 (GRCh37)
Canonical SPDI:: NC_000002.12:61073531:A:G
Gene:: SANBR (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.61073532A>G, NC_000002.11:g.61300667A>G, NM_032506.4:c.412A>G, NM_032506.3:c.412A>G, NM_032506.2:c.412A>G, NM_001129993.3:c.412A>G, NM_001129993.2:c.412A>G, NM_001129993.1:c.412A>G, NM_001330436.2:c.412A>G, NM_001330436.1:c.412A>G, NM_001330434.2:c.412A>G, NM_001330434.1:c.412A>G, NM_001330433.2:c.412A>G, NM_001330433.1:c.412A>G, NM_001330435.2:c.412A>G, NM_001330435.1:c.412A>G, NP_115895.2:p.Met138Val, NP_001123465.1:p.Met138Val, NP_001317365.1:p.Met138Val, NP_001317363.1:p.Met138Val, NP_001317362.1:p.Met138Val, NP_001317364.1:p.Met138Val

Select item 14823228228.

rs1482322822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:61134154 (GRCh38)
2:61361289 (GRCh37)
Canonical SPDI:: NC_000002.12:61134153:C:T
Gene:: SANBR (Varview), LOC105374759 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61134154C>T, NC_000002.11:g.61361289C>T, NM_032506.4:c.2046C>T, NM_032506.3:c.2046C>T, NM_032506.2:c.2046C>T, NM_001330433.2:c.2046C>T, NM_001330433.1:c.2046C>T, NM_001330435.2:c.2046C>T, NM_001330435.1:c.2046C>T

Select item 14817148089.

rs1481714808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:61092555 (GRCh38)
2:61319690 (GRCh37)
Canonical SPDI:: NC_000002.12:61092554:A:G
Gene:: SANBR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.61092555A>G, NC_000002.11:g.61319690A>G, NM_032506.4:c.1180A>G, NM_032506.3:c.1180A>G, NM_032506.2:c.1180A>G, NM_001129993.3:c.1180A>G, NM_001129993.2:c.1180A>G, NM_001129993.1:c.1180A>G, NM_001330436.2:c.1180A>G, NM_001330436.1:c.1180A>G, NM_001330432.2:c.742A>G, NM_001330432.1:c.742A>G, NM_001330434.2:c.1180A>G, NM_001330434.1:c.1180A>G, NM_001330433.2:c.1180A>G, NM_001330433.1:c.1180A>G, NM_001330435.2:c.1180A>G, NM_001330435.1:c.1180A>G, NP_115895.2:p.Ile394Val, NP_001123465.1:p.Ile394Val, NP_001317365.1:p.Ile394Val, NP_001317361.1:p.Ile248Val, NP_001317363.1:p.Ile394Val, NP_001317362.1:p.Ile394Val, NP_001317364.1:p.Ile394Val

Select item 147974673010.

rs1479746730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:61076925 (GRCh38)
2:61304060 (GRCh37)
Canonical SPDI:: NC_000002.12:61076924:A:G
Gene:: SANBR (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61076925A>G, NC_000002.11:g.61304060A>G, NM_032506.4:c.437A>G, NM_032506.3:c.437A>G, NM_032506.2:c.437A>G, NM_001129993.3:c.437A>G, NM_001129993.2:c.437A>G, NM_001129993.1:c.437A>G, NM_001330436.2:c.437A>G, NM_001330436.1:c.437A>G, NM_001330432.2:c.-2A>G, NM_001330432.1:c.-2A>G, NM_001330434.2:c.437A>G, NM_001330434.1:c.437A>G, NM_001330433.2:c.437A>G, NM_001330433.1:c.437A>G, NM_001330435.2:c.437A>G, NM_001330435.1:c.437A>G, NP_115895.2:p.Asn146Ser, NP_001123465.1:p.Asn146Ser, NP_001317365.1:p.Asn146Ser, NP_001317363.1:p.Asn146Ser, NP_001317362.1:p.Asn146Ser, NP_001317364.1:p.Asn146Ser

Select item 147939657511.

rs1479396575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:61081454 (GRCh38)
2:61308589 (GRCh37)
Canonical SPDI:: NC_000002.12:61081453:C:T
Gene:: SANBR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000037/5 (GnomAD)
HGVS:: NC_000002.12:g.61081454C>T, NC_000002.11:g.61308589C>T, NM_032506.4:c.673C>T, NM_032506.3:c.673C>T, NM_032506.2:c.673C>T, NM_001129993.3:c.673C>T, NM_001129993.2:c.673C>T, NM_001129993.1:c.673C>T, NM_001330436.2:c.673C>T, NM_001330436.1:c.673C>T, NM_001330432.2:c.235C>T, NM_001330432.1:c.235C>T, NM_001330434.2:c.673C>T, NM_001330434.1:c.673C>T, NM_001330433.2:c.673C>T, NM_001330433.1:c.673C>T, NM_001330435.2:c.673C>T, NM_001330435.1:c.673C>T, NP_115895.2:p.Pro225Ser, NP_001123465.1:p.Pro225Ser, NP_001317365.1:p.Pro225Ser, NP_001317361.1:p.Pro79Ser, NP_001317363.1:p.Pro225Ser, NP_001317362.1:p.Pro225Ser, NP_001317364.1:p.Pro225Ser

Select item 147773007912.

rs1477730079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:61073544 (GRCh38)
2:61300679 (GRCh37)
Canonical SPDI:: NC_000002.12:61073543:T:C
Gene:: SANBR (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61073544T>C, NC_000002.11:g.61300679T>C, NM_032506.4:c.424T>C, NM_032506.3:c.424T>C, NM_032506.2:c.424T>C, NM_001129993.3:c.424T>C, NM_001129993.2:c.424T>C, NM_001129993.1:c.424T>C, NM_001330436.2:c.424T>C, NM_001330436.1:c.424T>C, NM_001330434.2:c.424T>C, NM_001330434.1:c.424T>C, NM_001330433.2:c.424T>C, NM_001330433.1:c.424T>C, NM_001330435.2:c.424T>C, NM_001330435.1:c.424T>C, NP_115895.2:p.Ser142Pro, NP_001123465.1:p.Ser142Pro, NP_001317365.1:p.Ser142Pro, NP_001317363.1:p.Ser142Pro, NP_001317362.1:p.Ser142Pro, NP_001317364.1:p.Ser142Pro

Select item 147730004913.

rs1477300049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:61088166 (GRCh38)
2:61315301 (GRCh37)
Canonical SPDI:: NC_000002.12:61088165:T:C
Gene:: SANBR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61088166T>C, NC_000002.11:g.61315301T>C, NM_032506.4:c.898T>C, NM_032506.3:c.898T>C, NM_032506.2:c.898T>C, NM_001129993.3:c.898T>C, NM_001129993.2:c.898T>C, NM_001129993.1:c.898T>C, NM_001330436.2:c.898T>C, NM_001330436.1:c.898T>C, NM_001330432.2:c.460T>C, NM_001330432.1:c.460T>C, NM_001330434.2:c.898T>C, NM_001330434.1:c.898T>C, NM_001330433.2:c.898T>C, NM_001330433.1:c.898T>C, NM_001330435.2:c.898T>C, NM_001330435.1:c.898T>C, NP_115895.2:p.Phe300Leu, NP_001123465.1:p.Phe300Leu, NP_001317365.1:p.Phe300Leu, NP_001317361.1:p.Phe154Leu, NP_001317363.1:p.Phe300Leu, NP_001317362.1:p.Phe300Leu, NP_001317364.1:p.Phe300Leu

Select item 147582705114.

rs1475827051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:61092577 (GRCh38)
2:61319712 (GRCh37)
Canonical SPDI:: NC_000002.12:61092576:G:T
Gene:: SANBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.61092577G>T, NC_000002.11:g.61319712G>T, NM_032506.4:c.1202G>T, NM_032506.3:c.1202G>T, NM_032506.2:c.1202G>T, NM_001129993.3:c.1202G>T, NM_001129993.2:c.1202G>T, NM_001129993.1:c.1202G>T, NM_001330436.2:c.1202G>T, NM_001330436.1:c.1202G>T, NM_001330432.2:c.764G>T, NM_001330432.1:c.764G>T, NM_001330434.2:c.1202G>T, NM_001330434.1:c.1202G>T, NM_001330433.2:c.1202G>T, NM_001330433.1:c.1202G>T, NM_001330435.2:c.1202G>T, NM_001330435.1:c.1202G>T, NP_115895.2:p.Arg401Ile, NP_001123465.1:p.Arg401Ile, NP_001317365.1:p.Arg401Ile, NP_001317361.1:p.Arg255Ile, NP_001317363.1:p.Arg401Ile, NP_001317362.1:p.Arg401Ile, NP_001317364.1:p.Arg401Ile

Select item 147462487215.

rs1474624872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:61106647 (GRCh38)
2:61333782 (GRCh37)
Canonical SPDI:: NC_000002.12:61106646:T:C
Gene:: SANBR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.61106647T>C, NC_000002.11:g.61333782T>C, NM_032506.4:c.1596T>C, NM_032506.3:c.1596T>C, NM_032506.2:c.1596T>C, NM_001129993.3:c.1596T>C, NM_001129993.2:c.1596T>C, NM_001129993.1:c.1596T>C, NM_001330436.2:c.1596T>C, NM_001330436.1:c.1596T>C, NM_001330432.2:c.1158T>C, NM_001330432.1:c.1158T>C, NM_001330434.2:c.1443T>C, NM_001330434.1:c.1443T>C, NM_001330433.2:c.1596T>C, NM_001330433.1:c.1596T>C, NM_001330435.2:c.1596T>C, NM_001330435.1:c.1596T>C

Select item 147377094916.

rs1473770949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:61106636 (GRCh38)
2:61333771 (GRCh37)
Canonical SPDI:: NC_000002.12:61106635:G:T
Gene:: SANBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.61106636G>T, NC_000002.11:g.61333771G>T, NM_032506.4:c.1585G>T, NM_032506.3:c.1585G>T, NM_032506.2:c.1585G>T, NM_001129993.3:c.1585G>T, NM_001129993.2:c.1585G>T, NM_001129993.1:c.1585G>T, NM_001330436.2:c.1585G>T, NM_001330436.1:c.1585G>T, NM_001330432.2:c.1147G>T, NM_001330432.1:c.1147G>T, NM_001330434.2:c.1432G>T, NM_001330434.1:c.1432G>T, NM_001330433.2:c.1585G>T, NM_001330433.1:c.1585G>T, NM_001330435.2:c.1585G>T, NM_001330435.1:c.1585G>T, NP_115895.2:p.Gly529Cys, NP_001123465.1:p.Gly529Cys, NP_001317365.1:p.Gly529Cys, NP_001317361.1:p.Gly383Cys, NP_001317363.1:p.Gly478Cys, NP_001317362.1:p.Gly529Cys, NP_001317364.1:p.Gly529Cys

Select item 147220676117.

rs1472206761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:61117476 (GRCh38)
2:61344611 (GRCh37)
Canonical SPDI:: NC_000002.12:61117475:G:A
Gene:: SANBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.61117476G>A, NC_000002.11:g.61344611G>A, NM_032506.4:c.1875G>A, NM_032506.3:c.1875G>A, NM_032506.2:c.1875G>A, NM_001129993.3:c.1875G>A, NM_001129993.2:c.1875G>A, NM_001129993.1:c.1875G>A, NM_001330436.2:c.1875G>A, NM_001330436.1:c.1875G>A, NM_001330432.2:c.1437G>A, NM_001330432.1:c.1437G>A, NM_001330434.2:c.1722G>A, NM_001330434.1:c.1722G>A, NM_001330433.2:c.1875G>A, NM_001330433.1:c.1875G>A, NM_001330435.2:c.1875G>A, NM_001330435.1:c.1875G>A, NP_115895.2:p.Met625Ile, NP_001123465.1:p.Met625Ile, NP_001317365.1:p.Met625Ile, NP_001317361.1:p.Met479Ile, NP_001317363.1:p.Met574Ile, NP_001317362.1:p.Met625Ile, NP_001317364.1:p.Met625Ile

Select item 147123654118.

rs1471236541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:61092472 (GRCh38)
2:61319607 (GRCh37)
Canonical SPDI:: NC_000002.12:61092471:C:T
Gene:: SANBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.61092472C>T, NC_000002.11:g.61319607C>T, NM_032506.4:c.1097C>T, NM_032506.3:c.1097C>T, NM_032506.2:c.1097C>T, NM_001129993.3:c.1097C>T, NM_001129993.2:c.1097C>T, NM_001129993.1:c.1097C>T, NM_001330436.2:c.1097C>T, NM_001330436.1:c.1097C>T, NM_001330432.2:c.659C>T, NM_001330432.1:c.659C>T, NM_001330434.2:c.1097C>T, NM_001330434.1:c.1097C>T, NM_001330433.2:c.1097C>T, NM_001330433.1:c.1097C>T, NM_001330435.2:c.1097C>T, NM_001330435.1:c.1097C>T, NP_115895.2:p.Thr366Ile, NP_001123465.1:p.Thr366Ile, NP_001317365.1:p.Thr366Ile, NP_001317361.1:p.Thr220Ile, NP_001317363.1:p.Thr366Ile, NP_001317362.1:p.Thr366Ile, NP_001317364.1:p.Thr366Ile

Select item 147060135419.

rs1470601354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:61092495 (GRCh38)
2:61319630 (GRCh37)
Canonical SPDI:: NC_000002.12:61092494:A:G
Gene:: SANBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.61092495A>G, NC_000002.11:g.61319630A>G, NM_032506.4:c.1120A>G, NM_032506.3:c.1120A>G, NM_032506.2:c.1120A>G, NM_001129993.3:c.1120A>G, NM_001129993.2:c.1120A>G, NM_001129993.1:c.1120A>G, NM_001330436.2:c.1120A>G, NM_001330436.1:c.1120A>G, NM_001330432.2:c.682A>G, NM_001330432.1:c.682A>G, NM_001330434.2:c.1120A>G, NM_001330434.1:c.1120A>G, NM_001330433.2:c.1120A>G, NM_001330433.1:c.1120A>G, NM_001330435.2:c.1120A>G, NM_001330435.1:c.1120A>G, NP_115895.2:p.Asn374Asp, NP_001123465.1:p.Asn374Asp, NP_001317365.1:p.Asn374Asp, NP_001317361.1:p.Asn228Asp, NP_001317363.1:p.Asn374Asp, NP_001317362.1:p.Asn374Asp, NP_001317364.1:p.Asn374Asp

Select item 146968695320.

rs1469686953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:61118046 (GRCh38)
2:61345181 (GRCh37)
Canonical SPDI:: NC_000002.12:61118045:A:G
Gene:: SANBR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.61118046A>G, NC_000002.11:g.61345181A>G, NM_032506.4:c.1958A>G, NM_032506.3:c.1958A>G, NM_032506.2:c.1958A>G, NM_001129993.3:c.1958A>G, NM_001129993.2:c.1958A>G, NM_001129993.1:c.1958A>G, NM_001330436.2:c.1958A>G, NM_001330436.1:c.1958A>G, NM_001330432.2:c.1520A>G, NM_001330432.1:c.1520A>G, NM_001330434.2:c.1805A>G, NM_001330434.1:c.1805A>G, NM_001330433.2:c.1958A>G, NM_001330433.1:c.1958A>G, NM_001330435.2:c.1958A>G, NM_001330435.1:c.1958A>G, NP_115895.2:p.Glu653Gly, NP_001123465.1:p.Glu653Gly, NP_001317365.1:p.Glu653Gly, NP_001317361.1:p.Glu507Gly, NP_001317363.1:p.Glu602Gly, NP_001317362.1:p.Glu653Gly, NP_001317364.1:p.Glu653Gly

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