SNP Links for Protein (Select 530374530) - SNP

Select item 14861886571.

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 14861380542.

rs1486138054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:120644371 (GRCh38)
3:120363218 (GRCh37)
Canonical SPDI:: NC_000003.12:120644370:C:T
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120644371C>T, NC_000003.11:g.120363218C>T, NG_011957.1:g.43111G>A, NM_000187.4:c.722G>A, NM_000187.3:c.722G>A, XM_005247414.6:c.*196G>A, XM_005247414.5:c.*196G>A, XM_005247414.4:c.*196G>A, XM_017006277.3:c.299G>A, XM_017006277.2:c.299G>A, XM_017006277.1:c.299G>A, XM_005247413.3:c.722G>A, XM_005247413.2:c.722G>A, XM_005247413.1:c.722G>A, XM_011512746.3:c.722G>A, XM_011512746.2:c.722G>A, XM_011512746.1:c.722G>A, NP_000178.2:p.Gly241Asp, XP_016861766.1:p.Gly100Asp, XP_005247470.1:p.Gly241Asp, XP_011511048.1:p.Gly241Asp

Select item 14855300393.

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 14845004794.

rs1484500479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:120646312 (GRCh38)
3:120365159 (GRCh37)
Canonical SPDI:: NC_000003.12:120646311:C:T
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120646312C>T, NC_000003.11:g.120365159C>T, NG_011957.1:g.41170G>A, NM_000187.4:c.604G>A, NM_000187.3:c.604G>A, XM_005247414.6:c.604G>A, XM_005247414.5:c.604G>A, XM_005247414.4:c.604G>A, XM_005247414.3:c.604G>A, XM_005247414.2:c.604G>A, XM_005247414.1:c.604G>A, XM_017006277.3:c.181G>A, XM_017006277.2:c.181G>A, XM_017006277.1:c.181G>A, XM_005247413.3:c.604G>A, XM_005247413.2:c.604G>A, XM_005247413.1:c.604G>A, XM_011512746.3:c.604G>A, XM_011512746.2:c.604G>A, XM_011512746.1:c.604G>A, NP_000178.2:p.Glu202Lys, XP_005247471.1:p.Glu202Lys, XP_016861766.1:p.Glu61Lys, XP_005247470.1:p.Glu202Lys, XP_011511048.1:p.Glu202Lys

Select item 14799359395.

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 14751202116.

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 14697143357.

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 14688138718.

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 14670049519.

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 146158932310.

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 145875224611.

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 145766449512.

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 144743927313.

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 144587673214.

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 144350833815.

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 144261259816.

rs1442612598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:120646320 (GRCh38)
3:120365167 (GRCh37)
Canonical SPDI:: NC_000003.12:120646319:T:C
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.120646320T>C, NC_000003.11:g.120365167T>C, NG_011957.1:g.41162A>G, NM_000187.4:c.596A>G, NM_000187.3:c.596A>G, XM_005247414.6:c.596A>G, XM_005247414.5:c.596A>G, XM_005247414.4:c.596A>G, XM_005247414.3:c.596A>G, XM_005247414.2:c.596A>G, XM_005247414.1:c.596A>G, XM_017006277.3:c.173A>G, XM_017006277.2:c.173A>G, XM_017006277.1:c.173A>G, XM_005247413.3:c.596A>G, XM_005247413.2:c.596A>G, XM_005247413.1:c.596A>G, XM_011512746.3:c.596A>G, XM_011512746.2:c.596A>G, XM_011512746.1:c.596A>G, NP_000178.2:p.Tyr199Cys, XP_005247471.1:p.Tyr199Cys, XP_016861766.1:p.Tyr58Cys, XP_005247470.1:p.Tyr199Cys, XP_011511048.1:p.Tyr199Cys

Select item 143682662017.

rs1436826620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:120646355 (GRCh38)
3:120365202 (GRCh37)
Canonical SPDI:: NC_000003.12:120646354:C:T
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.120646355C>T, NC_000003.11:g.120365202C>T, NG_011957.1:g.41127G>A, NM_000187.4:c.561G>A, NM_000187.3:c.561G>A, XM_005247414.6:c.561G>A, XM_005247414.5:c.561G>A, XM_005247414.4:c.561G>A, XM_005247414.3:c.561G>A, XM_005247414.2:c.561G>A, XM_005247414.1:c.561G>A, XM_017006277.3:c.138G>A, XM_017006277.2:c.138G>A, XM_017006277.1:c.138G>A, XM_005247413.3:c.561G>A, XM_005247413.2:c.561G>A, XM_005247413.1:c.561G>A, XM_011512746.3:c.561G>A, XM_011512746.2:c.561G>A, XM_011512746.1:c.561G>A

Select item 143592142418.

rs1435921424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:120638545 (GRCh38)
3:120357392 (GRCh37)
Canonical SPDI:: NC_000003.12:120638544:C:G
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_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_000003.12:g.120638545C>G, NC_000003.11:g.120357392C>G, NG_011957.1:g.48937G>C, NM_000187.4:c.916G>C, NM_000187.3:c.916G>C, XM_017006277.3:c.493G>C, XM_017006277.2:c.493G>C, XM_017006277.1:c.493G>C, XM_005247412.3:c.691G>C, XM_005247412.2:c.691G>C, XM_005247412.1:c.691G>C, XM_005247413.3:c.916G>C, XM_005247413.2:c.916G>C, XM_005247413.1:c.916G>C, XM_047448058.1:c.691G>C, NP_000178.2:p.Val306Leu, XP_016861766.1:p.Val165Leu, XP_005247469.1:p.Val231Leu, XP_005247470.1:p.Val306Leu, XP_047304014.1:p.Val231Leu

Select item 143513102519.

rs1435131025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:120670526 (GRCh38)
3:120389373 (GRCh37)
Canonical SPDI:: NC_000003.12:120670525:C:T
Gene:: HGD (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.120670526C>T, NC_000003.11:g.120389373C>T, NG_011957.1:g.16956G>A, NM_000187.4:c.183G>A, NM_000187.3:c.183G>A, XM_005247414.6:c.183G>A, XM_005247414.5:c.183G>A, XM_005247414.4:c.183G>A, XM_005247414.3:c.183G>A, XM_005247414.2:c.183G>A, XM_005247414.1:c.183G>A, XM_017006277.3:c.-241G>A, XM_017006277.2:c.-241G>A, XM_017006277.1:c.-241G>A, XM_005247412.3:c.183G>A, XM_005247412.2:c.183G>A, XM_005247412.1:c.183G>A, XM_005247413.3:c.183G>A, XM_005247413.2:c.183G>A, XM_005247413.1:c.183G>A, XM_011512746.3:c.183G>A, XM_011512746.2:c.183G>A, XM_011512746.1:c.183G>A, XM_047448058.1:c.183G>A, XM_047448059.1:c.183G>A

Select item 143331674020.

rs1433316740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:120670513 (GRCh38)
3:120389360 (GRCh37)
Canonical SPDI:: NC_000003.12:120670512:G:A
Gene:: HGD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.120670513G>A, NC_000003.11:g.120389360G>A, NG_011957.1:g.16969C>T, NM_000187.4:c.196C>T, NM_000187.3:c.196C>T, XM_005247414.6:c.196C>T, XM_005247414.5:c.196C>T, XM_005247414.4:c.196C>T, XM_005247414.3:c.196C>T, XM_005247414.2:c.196C>T, XM_005247414.1:c.196C>T, XM_017006277.3:c.-228C>T, XM_017006277.2:c.-228C>T, XM_017006277.1:c.-228C>T, XM_005247412.3:c.196C>T, XM_005247412.2:c.196C>T, XM_005247412.1:c.196C>T, XM_005247413.3:c.196C>T, XM_005247413.2:c.196C>T, XM_005247413.1:c.196C>T, XM_011512746.3:c.196C>T, XM_011512746.2:c.196C>T, XM_011512746.1:c.196C>T, XM_047448058.1:c.196C>T, XM_047448059.1:c.196C>T, NP_000178.2:p.Pro66Ser, XP_005247471.1:p.Pro66Ser, XP_005247469.1:p.Pro66Ser, XP_005247470.1:p.Pro66Ser, XP_011511048.1:p.Pro66Ser, XP_047304014.1:p.Pro66Ser, XP_047304015.1:p.Pro66Ser

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dbSNP

Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 371

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