SNP Links for Protein (Select 110349748) - SNP

Links from Protein

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Select item 14915441751.

rs1491544175 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:190199993 (GRCh38)
2:191064720 (GRCh37)
Canonical SPDI:: NC_000002.12:190199993::G
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190199993_190199994insG, NC_000002.11:g.191064719_191064720insG, NM_032321.3:c.133_134insG, NM_032321.2:c.133_134insG, XM_011511983.2:c.133_134insG, XM_011511983.1:c.133_134insG, NM_001042519.2:c.133_134insG, NM_001042519.1:c.133_134insG, NM_001042520.2:c.133_134insG, NM_001042520.1:c.133_134insG, NM_001042521.2:c.133_134insG, NM_001042521.1:c.133_134insG, XM_047443905.1:c.*3912_*3913insC, XM_047446008.1:c.133_134insG, XM_047446009.1:c.133_134insG, NP_115697.2:p.Lys45fs, XP_011510285.1:p.Lys45fs, NP_001035984.1:p.Lys45fs, NP_001035985.1:p.Lys45fs, NP_001035986.1:p.Lys45fs, XP_047301964.1:p.Lys45fs, XP_047301965.1:p.Lys45fs

Select item 14870861882.

rs1487086188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190199915 (GRCh38)
2:191064641 (GRCh37)
Canonical SPDI:: NC_000002.12:190199914:G:A
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190199915G>A, NC_000002.11:g.191064641G>A, NM_032321.3:c.55G>A, NM_032321.2:c.55G>A, XM_011511983.2:c.55G>A, XM_011511983.1:c.55G>A, NM_001042519.2:c.55G>A, NM_001042519.1:c.55G>A, NM_001042520.2:c.55G>A, NM_001042520.1:c.55G>A, NM_001042521.2:c.55G>A, NM_001042521.1:c.55G>A, XM_047443905.1:c.*3991C>T, XM_047446008.1:c.55G>A, XM_047446009.1:c.55G>A, NP_115697.2:p.Glu19Lys, XP_011510285.1:p.Glu19Lys, NP_001035984.1:p.Glu19Lys, NP_001035985.1:p.Glu19Lys, NP_001035986.1:p.Glu19Lys, XP_047301964.1:p.Glu19Lys, XP_047301965.1:p.Glu19Lys

Select item 14868017973.

rs1486801797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190200109 (GRCh38)
2:191064835 (GRCh37)
Canonical SPDI:: NC_000002.12:190200108:G:A
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00014/2 (TOMMO)
HGVS:: NC_000002.12:g.190200109G>A, NC_000002.11:g.191064835G>A, NM_032321.3:c.249G>A, NM_032321.2:c.249G>A, XM_011511983.2:c.249G>A, XM_011511983.1:c.249G>A, NM_001042519.2:c.249G>A, NM_001042519.1:c.249G>A, NM_001042520.2:c.249G>A, NM_001042520.1:c.249G>A, NM_001042521.2:c.249G>A, NM_001042521.1:c.249G>A, XM_047443905.1:c.*3797C>T, XM_047446008.1:c.249G>A, XM_047446009.1:c.249G>A

Select item 14714771734.

rs1471477173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190200004 (GRCh38)
2:191064730 (GRCh37)
Canonical SPDI:: NC_000002.12:190200003:G:A
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190200004G>A, NC_000002.11:g.191064730G>A, NM_032321.3:c.144G>A, NM_032321.2:c.144G>A, XM_011511983.2:c.144G>A, XM_011511983.1:c.144G>A, NM_001042519.2:c.144G>A, NM_001042519.1:c.144G>A, NM_001042520.2:c.144G>A, NM_001042520.1:c.144G>A, NM_001042521.2:c.144G>A, NM_001042521.1:c.144G>A, XM_047443905.1:c.*3902C>T, XM_047446008.1:c.144G>A, XM_047446009.1:c.144G>A

Select item 14571970425.

rs1457197042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:190199871 (GRCh38)
2:191064597 (GRCh37)
Canonical SPDI:: NC_000002.12:190199870:T:A,NC_000002.12:190199870:T:C
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.190199871T>A, NC_000002.12:g.190199871T>C, NC_000002.11:g.191064597T>A, NC_000002.11:g.191064597T>C, NM_032321.3:c.11T>A, NM_032321.3:c.11T>C, NM_032321.2:c.11T>A, NM_032321.2:c.11T>C, XM_011511983.2:c.11T>A, XM_011511983.2:c.11T>C, XM_011511983.1:c.11T>A, XM_011511983.1:c.11T>C, NM_001042519.2:c.11T>A, NM_001042519.2:c.11T>C, NM_001042519.1:c.11T>A, NM_001042519.1:c.11T>C, NM_001042520.2:c.11T>A, NM_001042520.2:c.11T>C, NM_001042520.1:c.11T>A, NM_001042520.1:c.11T>C, NM_001042521.2:c.11T>A, NM_001042521.2:c.11T>C, NM_001042521.1:c.11T>A, NM_001042521.1:c.11T>C, XM_047443905.1:c.*4035A>T, XM_047443905.1:c.*4035A>G, XM_047446008.1:c.11T>A, XM_047446008.1:c.11T>C, XM_047446009.1:c.11T>A, XM_047446009.1:c.11T>C, NP_115697.2:p.Met4Lys, NP_115697.2:p.Met4Thr, XP_011510285.1:p.Met4Lys, XP_011510285.1:p.Met4Thr, NP_001035984.1:p.Met4Lys, NP_001035984.1:p.Met4Thr, NP_001035985.1:p.Met4Lys, NP_001035985.1:p.Met4Thr, NP_001035986.1:p.Met4Lys, NP_001035986.1:p.Met4Thr, XP_047301964.1:p.Met4Lys, XP_047301964.1:p.Met4Thr, XP_047301965.1:p.Met4Lys, XP_047301965.1:p.Met4Thr

Select item 14570789016.

rs1457078901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190200136 (GRCh38)
2:191064862 (GRCh37)
Canonical SPDI:: NC_000002.12:190200135:T:C
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_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_000002.12:g.190200136T>C, NC_000002.11:g.191064862T>C, NM_032321.3:c.276T>C, NM_032321.2:c.276T>C, XM_011511983.2:c.276T>C, XM_011511983.1:c.276T>C, NM_001042519.2:c.276T>C, NM_001042519.1:c.276T>C, NM_001042520.2:c.276T>C, NM_001042520.1:c.276T>C, NM_001042521.2:c.276T>C, NM_001042521.1:c.276T>C, XM_047443905.1:c.*3770A>G, XM_047446008.1:c.276T>C, XM_047446009.1:c.276T>C

Select item 14346234497.

rs1434623449 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATGAAGGTGAGA [Show Flanks]
Chromosome:: 2:190199902 (GRCh38)
2:191064629 (GRCh37)
Canonical SPDI:: NC_000002.12:190199902:ATATATGAAGGTGAGA:ATATATGAAGGTGAGATATATGAAGGTGAGA
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: ATATATGAAGGTGAGATATATGAAGGTGAGA=0./0 (ALFA)
ATATATGAAGGTGAG=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190199904_190199918dup, NC_000002.11:g.191064630_191064644dup, NM_032321.3:c.44_58dup, NM_032321.2:c.44_58dup, XM_011511983.2:c.44_58dup, XM_011511983.1:c.44_58dup, NM_001042519.2:c.44_58dup, NM_001042519.1:c.44_58dup, NM_001042520.2:c.44_58dup, NM_001042520.1:c.44_58dup, NM_001042521.2:c.44_58dup, NM_001042521.1:c.44_58dup, XM_047443905.1:c.*3989_*4003dup, XM_047446008.1:c.44_58dup, XM_047446009.1:c.44_58dup, NP_115697.2:p.Ile15_Glu19dup, XP_011510285.1:p.Ile15_Glu19dup, NP_001035984.1:p.Ile15_Glu19dup, NP_001035985.1:p.Ile15_Glu19dup, NP_001035986.1:p.Ile15_Glu19dup, XP_047301964.1:p.Ile15_Glu19dup, XP_047301965.1:p.Ile15_Glu19dup

Select item 14338039318.

rs1433803931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190199966 (GRCh38)
2:191064692 (GRCh37)
Canonical SPDI:: NC_000002.12:190199965:C:T
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.190199966C>T, NC_000002.11:g.191064692C>T, NM_032321.3:c.106C>T, NM_032321.2:c.106C>T, XM_011511983.2:c.106C>T, XM_011511983.1:c.106C>T, NM_001042519.2:c.106C>T, NM_001042519.1:c.106C>T, NM_001042520.2:c.106C>T, NM_001042520.1:c.106C>T, NM_001042521.2:c.106C>T, NM_001042521.1:c.106C>T, XM_047443905.1:c.*3940G>A, XM_047446008.1:c.106C>T, XM_047446009.1:c.106C>T, NP_115697.2:p.Pro36Ser, XP_011510285.1:p.Pro36Ser, NP_001035984.1:p.Pro36Ser, NP_001035985.1:p.Pro36Ser, NP_001035986.1:p.Pro36Ser, XP_047301964.1:p.Pro36Ser, XP_047301965.1:p.Pro36Ser

Select item 14286484039.

rs1428648403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190200089 (GRCh38)
2:191064815 (GRCh37)
Canonical SPDI:: NC_000002.12:190200088:T:C
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190200089T>C, NC_000002.11:g.191064815T>C, NM_032321.3:c.229T>C, NM_032321.2:c.229T>C, XM_011511983.2:c.229T>C, XM_011511983.1:c.229T>C, NM_001042519.2:c.229T>C, NM_001042519.1:c.229T>C, NM_001042520.2:c.229T>C, NM_001042520.1:c.229T>C, NM_001042521.2:c.229T>C, NM_001042521.1:c.229T>C, XM_047443905.1:c.*3817A>G, XM_047446008.1:c.229T>C, XM_047446009.1:c.229T>C, NP_115697.2:p.Trp77Arg, XP_011510285.1:p.Trp77Arg, NP_001035984.1:p.Trp77Arg, NP_001035985.1:p.Trp77Arg, NP_001035986.1:p.Trp77Arg, XP_047301964.1:p.Trp77Arg, XP_047301965.1:p.Trp77Arg

Select item 140835323610.

rs1408353236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:190200041 (GRCh38)
2:191064767 (GRCh37)
Canonical SPDI:: NC_000002.12:190200040:T:A
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190200041T>A, NC_000002.11:g.191064767T>A, NM_032321.3:c.181T>A, NM_032321.2:c.181T>A, XM_011511983.2:c.181T>A, XM_011511983.1:c.181T>A, NM_001042519.2:c.181T>A, NM_001042519.1:c.181T>A, NM_001042520.2:c.181T>A, NM_001042520.1:c.181T>A, NM_001042521.2:c.181T>A, NM_001042521.1:c.181T>A, XM_047443905.1:c.*3865A>T, XM_047446008.1:c.181T>A, XM_047446009.1:c.181T>A, NP_115697.2:p.Tyr61Asn, XP_011510285.1:p.Tyr61Asn, NP_001035984.1:p.Tyr61Asn, NP_001035985.1:p.Tyr61Asn, NP_001035986.1:p.Tyr61Asn, XP_047301964.1:p.Tyr61Asn, XP_047301965.1:p.Tyr61Asn

Select item 140218816211.

rs1402188162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190200127 (GRCh38)
2:191064853 (GRCh37)
Canonical SPDI:: NC_000002.12:190200126:C:T
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.190200127C>T, NC_000002.11:g.191064853C>T, NM_032321.3:c.267C>T, NM_032321.2:c.267C>T, XM_011511983.2:c.267C>T, XM_011511983.1:c.267C>T, NM_001042519.2:c.267C>T, NM_001042519.1:c.267C>T, NM_001042520.2:c.267C>T, NM_001042520.1:c.267C>T, NM_001042521.2:c.267C>T, NM_001042521.1:c.267C>T, XM_047443905.1:c.*3779G>A, XM_047446008.1:c.267C>T, XM_047446009.1:c.267C>T

Select item 139914339512.

rs1399143395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:190200033 (GRCh38)
2:191064759 (GRCh37)
Canonical SPDI:: NC_000002.12:190200032:T:C,NC_000002.12:190200032:T:G
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.190200033T>C, NC_000002.12:g.190200033T>G, NC_000002.11:g.191064759T>C, NC_000002.11:g.191064759T>G, NM_032321.3:c.173T>C, NM_032321.3:c.173T>G, NM_032321.2:c.173T>C, NM_032321.2:c.173T>G, XM_011511983.2:c.173T>C, XM_011511983.2:c.173T>G, XM_011511983.1:c.173T>C, XM_011511983.1:c.173T>G, NM_001042519.2:c.173T>C, NM_001042519.2:c.173T>G, NM_001042519.1:c.173T>C, NM_001042519.1:c.173T>G, NM_001042520.2:c.173T>C, NM_001042520.2:c.173T>G, NM_001042520.1:c.173T>C, NM_001042520.1:c.173T>G, NM_001042521.2:c.173T>C, NM_001042521.2:c.173T>G, NM_001042521.1:c.173T>C, NM_001042521.1:c.173T>G, XM_047443905.1:c.*3873A>G, XM_047443905.1:c.*3873A>C, XM_047446008.1:c.173T>C, XM_047446008.1:c.173T>G, XM_047446009.1:c.173T>C, XM_047446009.1:c.173T>G, NP_115697.2:p.Ile58Thr, NP_115697.2:p.Ile58Ser, XP_011510285.1:p.Ile58Thr, XP_011510285.1:p.Ile58Ser, NP_001035984.1:p.Ile58Thr, NP_001035984.1:p.Ile58Ser, NP_001035985.1:p.Ile58Thr, NP_001035985.1:p.Ile58Ser, NP_001035986.1:p.Ile58Thr, NP_001035986.1:p.Ile58Ser, XP_047301964.1:p.Ile58Thr, XP_047301964.1:p.Ile58Ser, XP_047301965.1:p.Ile58Thr, XP_047301965.1:p.Ile58Ser

Select item 139155089113.

rs1391550891 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATGCCAGAAGAGAGATGTCTACCTAG [Show Flanks]
Chromosome:: 2:190199943 (GRCh38)
2:191064670 (GRCh37)
Canonical SPDI:: NC_000002.12:190199943:TATGCCAGAAGAGAGATGTCTACCTAG:TATGCCAGAAGAGAGATGTCTACCTAGTATGCCAGAAGAGAGATGTCTACCTAG
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency
MAF:: TATGCCAGAAGAGAGATGTCTACCTAG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190199944_190199970dup, NC_000002.11:g.191064670_191064696dup, NM_032321.3:c.84_110dup, NM_032321.2:c.84_110dup, XM_011511983.2:c.84_110dup, XM_011511983.1:c.84_110dup, NM_001042519.2:c.84_110dup, NM_001042519.1:c.84_110dup, NM_001042520.2:c.84_110dup, NM_001042520.1:c.84_110dup, NM_001042521.2:c.84_110dup, NM_001042521.1:c.84_110dup, XM_047443905.1:c.*3936_*3962dup, XM_047446008.1:c.84_110dup, XM_047446009.1:c.84_110dup, NP_115697.2:p.Arg37_Met38insSerMetProGluGluArgCysLeuPro, XP_011510285.1:p.Arg37_Met38insSerMetProGluGluArgCysLeuPro, NP_001035984.1:p.Arg37_Met38insSerMetProGluGluArgCysLeuPro, NP_001035985.1:p.Arg37_Met38insSerMetProGluGluArgCysLeuPro, NP_001035986.1:p.Arg37_Met38insSerMetProGluGluArgCysLeuPro, XP_047301964.1:p.Arg37_Met38insSerMetProGluGluArgCysLeuPro, XP_047301965.1:p.Arg37_Met38insSerMetProGluGluArgCysLeuPro

Select item 138845141614.

rs1388451416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:190200001 (GRCh38)
2:191064727 (GRCh37)
Canonical SPDI:: NC_000002.12:190200000:A:C,NC_000002.12:190200000:A:G
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190200001A>C, NC_000002.12:g.190200001A>G, NC_000002.11:g.191064727A>C, NC_000002.11:g.191064727A>G, NM_032321.3:c.141A>C, NM_032321.3:c.141A>G, NM_032321.2:c.141A>C, NM_032321.2:c.141A>G, XM_011511983.2:c.141A>C, XM_011511983.2:c.141A>G, XM_011511983.1:c.141A>C, XM_011511983.1:c.141A>G, NM_001042519.2:c.141A>C, NM_001042519.2:c.141A>G, NM_001042519.1:c.141A>C, NM_001042519.1:c.141A>G, NM_001042520.2:c.141A>C, NM_001042520.2:c.141A>G, NM_001042520.1:c.141A>C, NM_001042520.1:c.141A>G, NM_001042521.2:c.141A>C, NM_001042521.2:c.141A>G, NM_001042521.1:c.141A>C, NM_001042521.1:c.141A>G, XM_047443905.1:c.*3905T>G, XM_047443905.1:c.*3905T>C, XM_047446008.1:c.141A>C, XM_047446008.1:c.141A>G, XM_047446009.1:c.141A>C, XM_047446009.1:c.141A>G, NP_115697.2:p.Glu47Asp, XP_011510285.1:p.Glu47Asp, NP_001035984.1:p.Glu47Asp, NP_001035985.1:p.Glu47Asp, NP_001035986.1:p.Glu47Asp, XP_047301964.1:p.Glu47Asp, XP_047301965.1:p.Glu47Asp

Select item 138797037615.

rs1387970376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:190200080 (GRCh38)
2:191064806 (GRCh37)
Canonical SPDI:: NC_000002.12:190200079:T:C,NC_000002.12:190200079:T:G
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
G=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.190200080T>C, NC_000002.12:g.190200080T>G, NC_000002.11:g.191064806T>C, NC_000002.11:g.191064806T>G, NM_032321.3:c.220T>C, NM_032321.3:c.220T>G, NM_032321.2:c.220T>C, NM_032321.2:c.220T>G, XM_011511983.2:c.220T>C, XM_011511983.2:c.220T>G, XM_011511983.1:c.220T>C, XM_011511983.1:c.220T>G, NM_001042519.2:c.220T>C, NM_001042519.2:c.220T>G, NM_001042519.1:c.220T>C, NM_001042519.1:c.220T>G, NM_001042520.2:c.220T>C, NM_001042520.2:c.220T>G, NM_001042520.1:c.220T>C, NM_001042520.1:c.220T>G, NM_001042521.2:c.220T>C, NM_001042521.2:c.220T>G, NM_001042521.1:c.220T>C, NM_001042521.1:c.220T>G, XM_047443905.1:c.*3826A>G, XM_047443905.1:c.*3826A>C, XM_047446008.1:c.220T>C, XM_047446008.1:c.220T>G, XM_047446009.1:c.220T>C, XM_047446009.1:c.220T>G, NP_115697.2:p.Leu74Val, XP_011510285.1:p.Leu74Val, NP_001035984.1:p.Leu74Val, NP_001035985.1:p.Leu74Val, NP_001035986.1:p.Leu74Val, XP_047301964.1:p.Leu74Val, XP_047301965.1:p.Leu74Val

Select item 138708350116.

rs1387083501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:190199876 (GRCh38)
2:191064602 (GRCh37)
Canonical SPDI:: NC_000002.12:190199875:T:G
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190199876T>G, NC_000002.11:g.191064602T>G, NM_032321.3:c.16T>G, NM_032321.2:c.16T>G, XM_011511983.2:c.16T>G, XM_011511983.1:c.16T>G, NM_001042519.2:c.16T>G, NM_001042519.1:c.16T>G, NM_001042520.2:c.16T>G, NM_001042520.1:c.16T>G, NM_001042521.2:c.16T>G, NM_001042521.1:c.16T>G, XM_047443905.1:c.*4030A>C, XM_047446008.1:c.16T>G, XM_047446009.1:c.16T>G, NP_115697.2:p.Ser6Ala, XP_011510285.1:p.Ser6Ala, NP_001035984.1:p.Ser6Ala, NP_001035985.1:p.Ser6Ala, NP_001035986.1:p.Ser6Ala, XP_047301964.1:p.Ser6Ala, XP_047301965.1:p.Ser6Ala

Select item 138337491117.

rs1383374911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190200098 (GRCh38)
2:191064824 (GRCh37)
Canonical SPDI:: NC_000002.12:190200097:A:G
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000637/11 (TOMMO)
HGVS:: NC_000002.12:g.190200098A>G, NC_000002.11:g.191064824A>G, NM_032321.3:c.238A>G, NM_032321.2:c.238A>G, XM_011511983.2:c.238A>G, XM_011511983.1:c.238A>G, NM_001042519.2:c.238A>G, NM_001042519.1:c.238A>G, NM_001042520.2:c.238A>G, NM_001042520.1:c.238A>G, NM_001042521.2:c.238A>G, NM_001042521.1:c.238A>G, XM_047443905.1:c.*3808T>C, XM_047446008.1:c.238A>G, XM_047446009.1:c.238A>G, NP_115697.2:p.Asn80Asp, XP_011510285.1:p.Asn80Asp, NP_001035984.1:p.Asn80Asp, NP_001035985.1:p.Asn80Asp, NP_001035986.1:p.Asn80Asp, XP_047301964.1:p.Asn80Asp, XP_047301965.1:p.Asn80Asp

Select item 138288731518.

rs1382887315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190199883 (GRCh38)
2:191064609 (GRCh37)
Canonical SPDI:: NC_000002.12:190199882:A:G
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_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_000002.12:g.190199883A>G, NC_000002.11:g.191064609A>G, NM_032321.3:c.23A>G, NM_032321.2:c.23A>G, XM_011511983.2:c.23A>G, XM_011511983.1:c.23A>G, NM_001042519.2:c.23A>G, NM_001042519.1:c.23A>G, NM_001042520.2:c.23A>G, NM_001042520.1:c.23A>G, NM_001042521.2:c.23A>G, NM_001042521.1:c.23A>G, XM_047443905.1:c.*4023T>C, XM_047446008.1:c.23A>G, XM_047446009.1:c.23A>G, NP_115697.2:p.Gln8Arg, XP_011510285.1:p.Gln8Arg, NP_001035984.1:p.Gln8Arg, NP_001035985.1:p.Gln8Arg, NP_001035986.1:p.Gln8Arg, XP_047301964.1:p.Gln8Arg, XP_047301965.1:p.Gln8Arg

Select item 138111883419.

rs1381118834 [Homo sapiens]

Variant type:: DEL
Alleles:: TCAGG>- [Show Flanks]
Chromosome:: 2:190200058 (GRCh38)
2:191064784 (GRCh37)
Canonical SPDI:: NC_000002.12:190200057:TCAGG:
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190200058_190200062del, NC_000002.11:g.191064784_191064788del, NM_032321.3:c.198_202del, NM_032321.2:c.198_202del, XM_011511983.2:c.198_202del, XM_011511983.1:c.198_202del, NM_001042519.2:c.198_202del, NM_001042519.1:c.198_202del, NM_001042520.2:c.198_202del, NM_001042520.1:c.198_202del, NM_001042521.2:c.198_202del, NM_001042521.1:c.198_202del, XM_047443905.1:c.*3844_*3848del, XM_047446008.1:c.198_202del, XM_047446009.1:c.198_202del, NP_115697.2:p.Gln67fs, XP_011510285.1:p.Gln67fs, NP_001035984.1:p.Gln67fs, NP_001035985.1:p.Gln67fs, NP_001035986.1:p.Gln67fs, XP_047301964.1:p.Gln67fs, XP_047301965.1:p.Gln67fs

Select item 137695066620.

rs1376950666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190199900 (GRCh38)
2:191064626 (GRCh37)
Canonical SPDI:: NC_000002.12:190199899:A:G
Gene:: HIBCH (Varview), C2orf88 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000002.12:g.190199900A>G, NC_000002.11:g.191064626A>G, NM_032321.3:c.40A>G, NM_032321.2:c.40A>G, XM_011511983.2:c.40A>G, XM_011511983.1:c.40A>G, NM_001042519.2:c.40A>G, NM_001042519.1:c.40A>G, NM_001042520.2:c.40A>G, NM_001042520.1:c.40A>G, NM_001042521.2:c.40A>G, NM_001042521.1:c.40A>G, XM_047443905.1:c.*4006T>C, XM_047446008.1:c.40A>G, XM_047446009.1:c.40A>G, NP_115697.2:p.Thr14Ala, XP_011510285.1:p.Thr14Ala, NP_001035984.1:p.Thr14Ala, NP_001035985.1:p.Thr14Ala, NP_001035986.1:p.Thr14Ala, XP_047301964.1:p.Thr14Ala, XP_047301965.1:p.Thr14Ala

dbSNP

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