SNP Links for Protein (Select 530374528) - SNP

Select item 14889068071.

rs1488906807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:120628495 (GRCh38)
3:120347342 (GRCh37)
Canonical SPDI:: NC_000003.12:120628494:A:C
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120628495A>C, NC_000003.11:g.120347342A>C, NG_011957.1:g.58987T>G, NM_000187.4:c.1223T>G, NM_000187.3:c.1223T>G, XM_017006277.3:c.800T>G, XM_017006277.2:c.800T>G, XM_017006277.1:c.800T>G, XM_005247412.3:c.998T>G, XM_005247412.2:c.998T>G, XM_005247412.1:c.998T>G, NP_000178.2:p.Val408Gly, XP_016861766.1:p.Val267Gly, XP_005247469.1:p.Val333Gly

Select item 14883355182.

rs1488335518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:120628430 (GRCh38)
3:120347277 (GRCh37)
Canonical SPDI:: NC_000003.12:120628429:G:A,NC_000003.12:120628429:G:T
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.120628430G>A, NC_000003.12:g.120628430G>T, NC_000003.11:g.120347277G>A, NC_000003.11:g.120347277G>T, NG_011957.1:g.59052C>T, NG_011957.1:g.59052C>A, NM_000187.4:c.1288C>T, NM_000187.4:c.1288C>A, NM_000187.3:c.1288C>T, NM_000187.3:c.1288C>A, XM_017006277.3:c.865C>T, XM_017006277.3:c.865C>A, XM_017006277.2:c.865C>T, XM_017006277.2:c.865C>A, XM_017006277.1:c.865C>T, XM_017006277.1:c.865C>A, XM_005247412.3:c.1063C>T, XM_005247412.3:c.1063C>A, XM_005247412.2:c.1063C>T, XM_005247412.2:c.1063C>A, XM_005247412.1:c.1063C>T, XM_005247412.1:c.1063C>A, NP_000178.2:p.Leu430Phe, NP_000178.2:p.Leu430Ile, XP_016861766.1:p.Leu289Phe, XP_016861766.1:p.Leu289Ile, XP_005247469.1:p.Leu355Phe, XP_005247469.1:p.Leu355Ile

Select item 14881465353.

rs1488146535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:120628499 (GRCh38)
3:120347346 (GRCh37)
Canonical SPDI:: NC_000003.12:120628498:C:T
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120628499C>T, NC_000003.11:g.120347346C>T, NG_011957.1:g.58983G>A, NM_000187.4:c.1219G>A, NM_000187.3:c.1219G>A, XM_017006277.3:c.796G>A, XM_017006277.2:c.796G>A, XM_017006277.1:c.796G>A, XM_005247412.3:c.994G>A, XM_005247412.2:c.994G>A, XM_005247412.1:c.994G>A, NP_000178.2:p.Ala407Thr, XP_016861766.1:p.Ala266Thr, XP_005247469.1:p.Ala332Thr

Select item 14871266574.

rs1487126657 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:120628444 (GRCh38)
3:120347291 (GRCh37)
Canonical SPDI:: NC_000003.12:120628443:T:C
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000003.12:g.120628444T>C, NC_000003.11:g.120347291T>C, NG_011957.1:g.59038A>G, NM_000187.4:c.1274A>G, NM_000187.3:c.1274A>G, XM_017006277.3:c.851A>G, XM_017006277.2:c.851A>G, XM_017006277.1:c.851A>G, XM_005247412.3:c.1049A>G, XM_005247412.2:c.1049A>G, XM_005247412.1:c.1049A>G, NP_000178.2:p.Lys425Arg, XP_016861766.1:p.Lys284Arg, XP_005247469.1:p.Lys350Arg

Select item 14861886575.

rs1486188657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:120650788 (GRCh38)
3:120369635 (GRCh37)
Canonical SPDI:: NC_000003.12:120650787:G:A
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.120650788G>A, NC_000003.11:g.120369635G>A, NG_011957.1:g.36694C>T, NM_000187.4:c.420C>T, NM_000187.3:c.420C>T, XM_005247414.6:c.420C>T, XM_005247414.5:c.420C>T, XM_005247414.4:c.420C>T, XM_005247414.3:c.420C>T, XM_005247414.2:c.420C>T, XM_005247414.1:c.420C>T, XM_017006277.3:c.-4C>T, XM_017006277.2:c.-4C>T, XM_017006277.1:c.-4C>T, XM_005247412.3:c.420C>T, XM_005247412.2:c.420C>T, XM_005247412.1:c.420C>T, XM_005247413.3:c.420C>T, XM_005247413.2:c.420C>T, XM_005247413.1:c.420C>T, XM_011512746.3:c.420C>T, XM_011512746.2:c.420C>T, XM_011512746.1:c.420C>T, XM_047448058.1:c.420C>T, XM_047448059.1:c.420C>T

Select item 14855300396.

rs1485530039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:120674963 (GRCh38)
3:120393810 (GRCh37)
Canonical SPDI:: NC_000003.12:120674962:A:G
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_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.120674963A>G, NC_000003.11:g.120393810A>G, NG_011957.1:g.12519T>C, NM_000187.4:c.114T>C, NM_000187.3:c.114T>C, XM_005247414.6:c.114T>C, XM_005247414.5:c.114T>C, XM_005247414.4:c.114T>C, XM_005247414.3:c.114T>C, XM_005247414.2:c.114T>C, XM_005247414.1:c.114T>C, XM_017006277.3:c.-310T>C, XM_017006277.2:c.-310T>C, XM_017006277.1:c.-310T>C, XM_005247412.3:c.114T>C, XM_005247412.2:c.114T>C, XM_005247412.1:c.114T>C, XM_005247413.3:c.114T>C, XM_005247413.2:c.114T>C, XM_005247413.1:c.114T>C, XM_011512746.3:c.114T>C, XM_011512746.2:c.114T>C, XM_011512746.1:c.114T>C, XM_047448058.1:c.114T>C, XM_047448059.1:c.114T>C

Select item 14799359397.

rs1479935939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:120641605 (GRCh38)
3:120360452 (GRCh37)
Canonical SPDI:: NC_000003.12:120641604:A:T
Gene:: HGD (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.120641605A>T, NC_000003.11:g.120360452A>T, NG_011957.1:g.45877T>A, NM_000187.4:c.863T>A, NM_000187.3:c.863T>A, XM_017006277.3:c.440T>A, XM_017006277.2:c.440T>A, XM_017006277.1:c.440T>A, XM_005247412.3:c.638T>A, XM_005247412.2:c.638T>A, XM_005247412.1:c.638T>A, XM_005247413.3:c.863T>A, XM_005247413.2:c.863T>A, XM_005247413.1:c.863T>A, XM_011512746.3:c.863T>A, XM_011512746.2:c.863T>A, XM_011512746.1:c.863T>A, XM_047448058.1:c.638T>A, XM_047448059.1:c.638T>A, NP_000178.2:p.Val288Glu, XP_016861766.1:p.Val147Glu, XP_005247469.1:p.Val213Glu, XP_005247470.1:p.Val288Glu, XP_011511048.1:p.Val288Glu, XP_047304014.1:p.Val213Glu, XP_047304015.1:p.Val213Glu

Select item 14771173428.

rs1477117342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:120628524 (GRCh38)
3:120347371 (GRCh37)
Canonical SPDI:: NC_000003.12:120628523:A:G
Gene:: HGD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120628524A>G, NC_000003.11:g.120347371A>G, NG_011957.1:g.58958T>C, NM_000187.4:c.1194T>C, NM_000187.3:c.1194T>C, XM_017006277.3:c.771T>C, XM_017006277.2:c.771T>C, XM_017006277.1:c.771T>C, XM_005247412.3:c.969T>C, XM_005247412.2:c.969T>C, XM_005247412.1:c.969T>C

Select item 14751202119.

rs1475120211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:120674918 (GRCh38)
3:120393765 (GRCh37)
Canonical SPDI:: NC_000003.12:120674917:C:T
Gene:: HGD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120674918C>T, NC_000003.11:g.120393765C>T, NG_011957.1:g.12564G>A, NM_000187.4:c.159G>A, NM_000187.3:c.159G>A, XM_005247414.6:c.159G>A, XM_005247414.5:c.159G>A, XM_005247414.4:c.159G>A, XM_005247414.3:c.159G>A, XM_005247414.2:c.159G>A, XM_005247414.1:c.159G>A, XM_017006277.3:c.-265G>A, XM_017006277.2:c.-265G>A, XM_017006277.1:c.-265G>A, XM_005247412.3:c.159G>A, XM_005247412.2:c.159G>A, XM_005247412.1:c.159G>A, XM_005247413.3:c.159G>A, XM_005247413.2:c.159G>A, XM_005247413.1:c.159G>A, XM_011512746.3:c.159G>A, XM_011512746.2:c.159G>A, XM_011512746.1:c.159G>A, XM_047448058.1:c.159G>A, XM_047448059.1:c.159G>A

Select item 146971433510.

rs1469714335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:120641677 (GRCh38)
3:120360524 (GRCh37)
Canonical SPDI:: NC_000003.12:120641676:T:C
Gene:: HGD (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.120641677T>C, NC_000003.11:g.120360524T>C, NG_011957.1:g.45805A>G, NM_000187.4:c.791A>G, NM_000187.3:c.791A>G, XM_017006277.3:c.368A>G, XM_017006277.2:c.368A>G, XM_017006277.1:c.368A>G, XM_005247412.3:c.566A>G, XM_005247412.2:c.566A>G, XM_005247412.1:c.566A>G, XM_005247413.3:c.791A>G, XM_005247413.2:c.791A>G, XM_005247413.1:c.791A>G, XM_011512746.3:c.791A>G, XM_011512746.2:c.791A>G, XM_011512746.1:c.791A>G, XM_047448058.1:c.566A>G, XM_047448059.1:c.566A>G, NP_000178.2:p.Asn264Ser, XP_016861766.1:p.Asn123Ser, XP_005247469.1:p.Asn189Ser, XP_005247470.1:p.Asn264Ser, XP_011511048.1:p.Asn264Ser, XP_047304014.1:p.Asn189Ser, XP_047304015.1:p.Asn189Ser

Select item 146881387111.

rs1468813871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:120647002 (GRCh38)
3:120365849 (GRCh37)
Canonical SPDI:: NC_000003.12:120647001:C:T
Gene:: HGD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120647002C>T, NC_000003.11:g.120365849C>T, NG_011957.1:g.40480G>A, NM_000187.4:c.520G>A, NM_000187.3:c.520G>A, XM_005247414.6:c.520G>A, XM_005247414.5:c.520G>A, XM_005247414.4:c.520G>A, XM_005247414.3:c.520G>A, XM_005247414.2:c.520G>A, XM_005247414.1:c.520G>A, XM_017006277.3:c.97G>A, XM_017006277.2:c.97G>A, XM_017006277.1:c.97G>A, XM_005247412.3:c.520G>A, XM_005247412.2:c.520G>A, XM_005247412.1:c.520G>A, XM_005247413.3:c.520G>A, XM_005247413.2:c.520G>A, XM_005247413.1:c.520G>A, XM_011512746.3:c.520G>A, XM_011512746.2:c.520G>A, XM_011512746.1:c.520G>A, XM_047448058.1:c.520G>A, XM_047448059.1:c.520G>A, NP_000178.2:p.Val174Ile, XP_005247471.1:p.Val174Ile, XP_016861766.1:p.Val33Ile, XP_005247469.1:p.Val174Ile, XP_005247470.1:p.Val174Ile, XP_011511048.1:p.Val174Ile, XP_047304014.1:p.Val174Ile, XP_047304015.1:p.Val174Ile

Select item 146700495112.

rs1467004951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:120675811 (GRCh38)
3:120394658 (GRCh37)
Canonical SPDI:: NC_000003.12:120675810:C:A,NC_000003.12:120675810:C:T
Gene:: HGD (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.120675811C>A, NC_000003.12:g.120675811C>T, NC_000003.11:g.120394658C>A, NC_000003.11:g.120394658C>T, NG_011957.1:g.11671G>T, NG_011957.1:g.11671G>A, NM_000187.4:c.68G>T, NM_000187.4:c.68G>A, NM_000187.3:c.68G>T, NM_000187.3:c.68G>A, XM_005247414.6:c.68G>T, XM_005247414.6:c.68G>A, XM_005247414.5:c.68G>T, XM_005247414.5:c.68G>A, XM_005247414.4:c.68G>T, XM_005247414.4:c.68G>A, XM_005247414.3:c.68G>T, XM_005247414.3:c.68G>A, XM_005247414.2:c.68G>T, XM_005247414.2:c.68G>A, XM_005247414.1:c.68G>T, XM_005247414.1:c.68G>A, XM_017006277.3:c.-356G>T, XM_017006277.3:c.-356G>A, XM_017006277.2:c.-356G>T, XM_017006277.2:c.-356G>A, XM_017006277.1:c.-356G>T, XM_017006277.1:c.-356G>A, XM_005247412.3:c.68G>T, XM_005247412.3:c.68G>A, XM_005247412.2:c.68G>T, XM_005247412.2:c.68G>A, XM_005247412.1:c.68G>T, XM_005247412.1:c.68G>A, XM_005247413.3:c.68G>T, XM_005247413.3:c.68G>A, XM_005247413.2:c.68G>T, XM_005247413.2:c.68G>A, XM_005247413.1:c.68G>T, XM_005247413.1:c.68G>A, XM_011512746.3:c.68G>T, XM_011512746.3:c.68G>A, XM_011512746.2:c.68G>T, XM_011512746.2:c.68G>A, XM_011512746.1:c.68G>T, XM_011512746.1:c.68G>A, XM_047448058.1:c.68G>T, XM_047448058.1:c.68G>A, XM_047448059.1:c.68G>T, XM_047448059.1:c.68G>A, NP_000178.2:p.Gly23Val, NP_000178.2:p.Gly23Asp, XP_005247471.1:p.Gly23Val, XP_005247471.1:p.Gly23Asp, XP_005247469.1:p.Gly23Val, XP_005247469.1:p.Gly23Asp, XP_005247470.1:p.Gly23Val, XP_005247470.1:p.Gly23Asp, XP_011511048.1:p.Gly23Val, XP_011511048.1:p.Gly23Asp, XP_047304014.1:p.Gly23Val, XP_047304014.1:p.Gly23Asp, XP_047304015.1:p.Gly23Val, XP_047304015.1:p.Gly23Asp

Select item 146158932313.

rs1461589323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:120652605 (GRCh38)
3:120371452 (GRCh37)
Canonical SPDI:: NC_000003.12:120652604:A:T
Gene:: HGD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120652605A>T, NC_000003.11:g.120371452A>T, NG_011957.1:g.34877T>A, NM_000187.4:c.329T>A, NM_000187.3:c.329T>A, XM_005247414.6:c.329T>A, XM_005247414.5:c.329T>A, XM_005247414.4:c.329T>A, XM_005247414.3:c.329T>A, XM_005247414.2:c.329T>A, XM_005247414.1:c.329T>A, XM_017006277.3:c.-95T>A, XM_017006277.2:c.-95T>A, XM_017006277.1:c.-95T>A, XM_005247412.3:c.329T>A, XM_005247412.2:c.329T>A, XM_005247412.1:c.329T>A, XM_005247413.3:c.329T>A, XM_005247413.2:c.329T>A, XM_005247413.1:c.329T>A, XM_011512746.3:c.329T>A, XM_011512746.2:c.329T>A, XM_011512746.1:c.329T>A, XM_047448058.1:c.329T>A, XM_047448059.1:c.329T>A, NP_000178.2:p.Val110Glu, XP_005247471.1:p.Val110Glu, XP_005247469.1:p.Val110Glu, XP_005247470.1:p.Val110Glu, XP_011511048.1:p.Val110Glu, XP_047304014.1:p.Val110Glu, XP_047304015.1:p.Val110Glu

Select item 145919024814.

rs1459190248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:120633170 (GRCh38)
3:120352017 (GRCh37)
Canonical SPDI:: NC_000003.12:120633169:C:G,NC_000003.12:120633169:C:T
Gene:: HGD (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.120633170C>G, NC_000003.12:g.120633170C>T, NC_000003.11:g.120352017C>G, NC_000003.11:g.120352017C>T, NG_011957.1:g.54312G>C, NG_011957.1:g.54312G>A, NM_000187.4:c.1165G>C, NM_000187.4:c.1165G>A, NM_000187.3:c.1165G>C, NM_000187.3:c.1165G>A, XM_017006277.3:c.742G>C, XM_017006277.3:c.742G>A, XM_017006277.2:c.742G>C, XM_017006277.2:c.742G>A, XM_017006277.1:c.742G>C, XM_017006277.1:c.742G>A, XM_005247412.3:c.940G>C, XM_005247412.3:c.940G>A, XM_005247412.2:c.940G>C, XM_005247412.2:c.940G>A, XM_005247412.1:c.940G>C, XM_005247412.1:c.940G>A, NP_000178.2:p.Glu389Gln, NP_000178.2:p.Glu389Lys, XP_016861766.1:p.Glu248Gln, XP_016861766.1:p.Glu248Lys, XP_005247469.1:p.Glu314Gln, XP_005247469.1:p.Glu314Lys

Select item 145875224615.

rs1458752246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:120675842 (GRCh38)
3:120394689 (GRCh37)
Canonical SPDI:: NC_000003.12:120675841:C:T
Gene:: HGD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.120675842C>T, NC_000003.11:g.120394689C>T, NG_011957.1:g.11640G>A, NM_000187.4:c.37G>A, NM_000187.3:c.37G>A, XM_005247414.6:c.37G>A, XM_005247414.5:c.37G>A, XM_005247414.4:c.37G>A, XM_005247414.3:c.37G>A, XM_005247414.2:c.37G>A, XM_005247414.1:c.37G>A, XM_017006277.3:c.-387G>A, XM_017006277.2:c.-387G>A, XM_017006277.1:c.-387G>A, XM_005247412.3:c.37G>A, XM_005247412.2:c.37G>A, XM_005247412.1:c.37G>A, XM_005247413.3:c.37G>A, XM_005247413.2:c.37G>A, XM_005247413.1:c.37G>A, XM_011512746.3:c.37G>A, XM_011512746.2:c.37G>A, XM_011512746.1:c.37G>A, XM_047448058.1:c.37G>A, XM_047448059.1:c.37G>A, NP_000178.2:p.Glu13Lys, XP_005247471.1:p.Glu13Lys, XP_005247469.1:p.Glu13Lys, XP_005247470.1:p.Glu13Lys, XP_011511048.1:p.Glu13Lys, XP_047304014.1:p.Glu13Lys, XP_047304015.1:p.Glu13Lys

Select item 145766449516.

rs1457664495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:120638459 (GRCh38)
3:120357306 (GRCh37)
Canonical SPDI:: NC_000003.12:120638458:G:T
Gene:: HGD (Varview)
Functional Consequence:: stop_gained,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.120638459G>T, NC_000003.11:g.120357306G>T, NG_011957.1:g.49023C>A, NM_000187.4:c.1002C>A, NM_000187.3:c.1002C>A, XM_017006277.3:c.579C>A, XM_017006277.2:c.579C>A, XM_017006277.1:c.579C>A, XM_005247412.3:c.777C>A, XM_005247412.2:c.777C>A, XM_005247412.1:c.777C>A, XM_005247413.3:c.1002C>A, XM_005247413.2:c.1002C>A, XM_005247413.1:c.1002C>A, XM_047448058.1:c.777C>A, NP_000178.2:p.Tyr334Ter, XP_016861766.1:p.Tyr193Ter, XP_005247469.1:p.Tyr259Ter, XP_005247470.1:p.Tyr334Ter, XP_047304014.1:p.Tyr259Ter

Select item 144743927317.

rs1447439273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:120646982 (GRCh38)
3:120365829 (GRCh37)
Canonical SPDI:: NC_000003.12:120646981:G:A
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.120646982G>A, NC_000003.11:g.120365829G>A, NG_011957.1:g.40500C>T, NM_000187.4:c.540C>T, NM_000187.3:c.540C>T, XM_005247414.6:c.540C>T, XM_005247414.5:c.540C>T, XM_005247414.4:c.540C>T, XM_005247414.3:c.540C>T, XM_005247414.2:c.540C>T, XM_005247414.1:c.540C>T, XM_017006277.3:c.117C>T, XM_017006277.2:c.117C>T, XM_017006277.1:c.117C>T, XM_005247412.3:c.540C>T, XM_005247412.2:c.540C>T, XM_005247412.1:c.540C>T, XM_005247413.3:c.540C>T, XM_005247413.2:c.540C>T, XM_005247413.1:c.540C>T, XM_011512746.3:c.540C>T, XM_011512746.2:c.540C>T, XM_011512746.1:c.540C>T, XM_047448058.1:c.540C>T, XM_047448059.1:c.540C>T

Select item 144587673218.

rs1445876732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:120652615 (GRCh38)
3:120371462 (GRCh37)
Canonical SPDI:: NC_000003.12:120652614:G:A
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.120652615G>A, NC_000003.11:g.120371462G>A, NG_011957.1:g.34867C>T, NM_000187.4:c.319C>T, NM_000187.3:c.319C>T, XM_005247414.6:c.319C>T, XM_005247414.5:c.319C>T, XM_005247414.4:c.319C>T, XM_005247414.3:c.319C>T, XM_005247414.2:c.319C>T, XM_005247414.1:c.319C>T, XM_017006277.3:c.-105C>T, XM_017006277.2:c.-105C>T, XM_017006277.1:c.-105C>T, XM_005247412.3:c.319C>T, XM_005247412.2:c.319C>T, XM_005247412.1:c.319C>T, XM_005247413.3:c.319C>T, XM_005247413.2:c.319C>T, XM_005247413.1:c.319C>T, XM_011512746.3:c.319C>T, XM_011512746.2:c.319C>T, XM_011512746.1:c.319C>T, XM_047448058.1:c.319C>T, XM_047448059.1:c.319C>T, NP_000178.2:p.Gln107Ter, XP_005247471.1:p.Gln107Ter, XP_005247469.1:p.Gln107Ter, XP_005247470.1:p.Gln107Ter, XP_011511048.1:p.Gln107Ter, XP_047304014.1:p.Gln107Ter, XP_047304015.1:p.Gln107Ter

Select item 144350833819.

rs1443508338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:120674971 (GRCh38)
3:120393818 (GRCh37)
Canonical SPDI:: NC_000003.12:120674970:G:A
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.120674971G>A, NC_000003.11:g.120393818G>A, NG_011957.1:g.12511C>T, NM_000187.4:c.106C>T, NM_000187.3:c.106C>T, XM_005247414.6:c.106C>T, XM_005247414.5:c.106C>T, XM_005247414.4:c.106C>T, XM_005247414.3:c.106C>T, XM_005247414.2:c.106C>T, XM_005247414.1:c.106C>T, XM_017006277.3:c.-318C>T, XM_017006277.2:c.-318C>T, XM_017006277.1:c.-318C>T, XM_005247412.3:c.106C>T, XM_005247412.2:c.106C>T, XM_005247412.1:c.106C>T, XM_005247413.3:c.106C>T, XM_005247413.2:c.106C>T, XM_005247413.1:c.106C>T, XM_011512746.3:c.106C>T, XM_011512746.2:c.106C>T, XM_011512746.1:c.106C>T, XM_047448058.1:c.106C>T, XM_047448059.1:c.106C>T, NP_000178.2:p.Pro36Ser, XP_005247471.1:p.Pro36Ser, XP_005247469.1:p.Pro36Ser, XP_005247470.1:p.Pro36Ser, XP_011511048.1:p.Pro36Ser, XP_047304014.1:p.Pro36Ser, XP_047304015.1:p.Pro36Ser

Select item 144015605220.

rs1440156052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:120628387 (GRCh38)
3:120347234 (GRCh37)
Canonical SPDI:: NC_000003.12:120628386:G:A
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.120628387G>A, NC_000003.11:g.120347234G>A, NG_011957.1:g.59095C>T, NM_000187.4:c.1331C>T, NM_000187.3:c.1331C>T, XM_017006277.3:c.908C>T, XM_017006277.2:c.908C>T, XM_017006277.1:c.908C>T, XM_005247412.3:c.1106C>T, XM_005247412.2:c.1106C>T, XM_005247412.1:c.1106C>T, NP_000178.2:p.Pro444Leu, XP_016861766.1:p.Pro303Leu, XP_005247469.1:p.Pro369Leu

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