SNP Links for Protein (Select 961349597) - SNP

Select item 14880683051.

rs1488068305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:26710395 (GRCh38)
3:26751886 (GRCh37)
Canonical SPDI:: NC_000003.12:26710394:C:A,NC_000003.12:26710394:C:T
Gene:: LRRC3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.26710395C>A, NC_000003.12:g.26710395C>T, NC_000003.11:g.26751886C>A, NC_000003.11:g.26751886C>T, NM_052953.4:c.723C>A, NM_052953.4:c.723C>T, NM_052953.3:c.723C>A, NM_052953.3:c.723C>T, NM_052953.2:c.723C>A, NM_052953.2:c.723C>T, XM_011533332.4:c.723C>A, XM_011533332.4:c.723C>T, XM_011533332.3:c.723C>A, XM_011533332.3:c.723C>T, XM_011533332.2:c.723C>A, XM_011533332.2:c.723C>T, XM_011533332.1:c.723C>A, XM_011533332.1:c.723C>T, NM_001317810.3:c.723C>A, NM_001317810.3:c.723C>T, NM_001317810.2:c.723C>A, NM_001317810.2:c.723C>T, NM_001317810.1:c.723C>A, NM_001317810.1:c.723C>T, NM_001317811.2:c.723C>A, NM_001317811.2:c.723C>T, NM_001317811.1:c.723C>A, NM_001317811.1:c.723C>T, NM_001317809.2:c.723C>A, NM_001317809.2:c.723C>T, NM_001317809.1:c.723C>A, NM_001317809.1:c.723C>T, NM_001317808.2:c.723C>A, NM_001317808.2:c.723C>T, NM_001317808.1:c.723C>A, NM_001317808.1:c.723C>T, XM_047447402.1:c.723C>A, XM_047447402.1:c.723C>T, NM_001395647.1:c.723C>A, NM_001395647.1:c.723C>T, NM_001395646.1:c.723C>A, NM_001395646.1:c.723C>T, NM_001395645.1:c.723C>A, NM_001395645.1:c.723C>T

Select item 14867371272.

rs1486737127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:26710001 (GRCh38)
3:26751492 (GRCh37)
Canonical SPDI:: NC_000003.12:26710000:G:A
Gene:: LRRC3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26710001G>A, NC_000003.11:g.26751492G>A, NM_052953.4:c.329G>A, NM_052953.3:c.329G>A, NM_052953.2:c.329G>A, XM_011533332.4:c.329G>A, XM_011533332.3:c.329G>A, XM_011533332.2:c.329G>A, XM_011533332.1:c.329G>A, NM_001317810.3:c.329G>A, NM_001317810.2:c.329G>A, NM_001317810.1:c.329G>A, NM_001317811.2:c.329G>A, NM_001317811.1:c.329G>A, NM_001317809.2:c.329G>A, NM_001317809.1:c.329G>A, NM_001317808.2:c.329G>A, NM_001317808.1:c.329G>A, XM_047447402.1:c.329G>A, NM_001395647.1:c.329G>A, NM_001395646.1:c.329G>A, NM_001395645.1:c.329G>A, NP_443185.1:p.Gly110Glu, XP_011531634.1:p.Gly110Glu, NP_001304739.1:p.Gly110Glu, NP_001304740.1:p.Gly110Glu, NP_001304738.1:p.Gly110Glu, NP_001304737.1:p.Gly110Glu, XP_047303358.1:p.Gly110Glu, NP_001382576.1:p.Gly110Glu, NP_001382575.1:p.Gly110Glu, NP_001382574.1:p.Gly110Glu

Select item 14811036723.

rs1481103672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:26709679 (GRCh38)
3:26751170 (GRCh37)
Canonical SPDI:: NC_000003.12:26709678:C:T
Gene:: LRRC3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26709679C>T, NC_000003.11:g.26751170C>T, NM_052953.4:c.7C>T, NM_052953.3:c.7C>T, NM_052953.2:c.7C>T, XM_011533332.4:c.7C>T, XM_011533332.3:c.7C>T, XM_011533332.2:c.7C>T, XM_011533332.1:c.7C>T, NM_001317810.3:c.7C>T, NM_001317810.2:c.7C>T, NM_001317810.1:c.7C>T, NM_001317811.2:c.7C>T, NM_001317811.1:c.7C>T, NM_001317809.2:c.7C>T, NM_001317809.1:c.7C>T, NM_001317808.2:c.7C>T, NM_001317808.1:c.7C>T, XM_047447402.1:c.7C>T, NM_001395647.1:c.7C>T, NM_001395646.1:c.7C>T, NM_001395645.1:c.7C>T

Select item 14792830754.

rs1479283075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:26710437 (GRCh38)
3:26751928 (GRCh37)
Canonical SPDI:: NC_000003.12:26710436:T:C,NC_000003.12:26710436:T:G
Gene:: LRRC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.26710437T>C, NC_000003.12:g.26710437T>G, NC_000003.11:g.26751928T>C, NC_000003.11:g.26751928T>G, NM_052953.4:c.765T>C, NM_052953.4:c.765T>G, NM_052953.3:c.765T>C, NM_052953.3:c.765T>G, NM_052953.2:c.765T>C, NM_052953.2:c.765T>G, XM_011533332.4:c.765T>C, XM_011533332.4:c.765T>G, XM_011533332.3:c.765T>C, XM_011533332.3:c.765T>G, XM_011533332.2:c.765T>C, XM_011533332.2:c.765T>G, XM_011533332.1:c.765T>C, XM_011533332.1:c.765T>G, NM_001317810.3:c.765T>C, NM_001317810.3:c.765T>G, NM_001317810.2:c.765T>C, NM_001317810.2:c.765T>G, NM_001317810.1:c.765T>C, NM_001317810.1:c.765T>G, NM_001317811.2:c.765T>C, NM_001317811.2:c.765T>G, NM_001317811.1:c.765T>C, NM_001317811.1:c.765T>G, NM_001317809.2:c.765T>C, NM_001317809.2:c.765T>G, NM_001317809.1:c.765T>C, NM_001317809.1:c.765T>G, NM_001317808.2:c.765T>C, NM_001317808.2:c.765T>G, NM_001317808.1:c.765T>C, NM_001317808.1:c.765T>G, XM_047447402.1:c.765T>C, XM_047447402.1:c.765T>G, NM_001395647.1:c.765T>C, NM_001395647.1:c.765T>G, NM_001395646.1:c.765T>C, NM_001395646.1:c.765T>G, NM_001395645.1:c.765T>C, NM_001395645.1:c.765T>G, NP_443185.1:p.Ile255Met, XP_011531634.1:p.Ile255Met, NP_001304739.1:p.Ile255Met, NP_001304740.1:p.Ile255Met, NP_001304738.1:p.Ile255Met, NP_001304737.1:p.Ile255Met, XP_047303358.1:p.Ile255Met, NP_001382576.1:p.Ile255Met, NP_001382575.1:p.Ile255Met, NP_001382574.1:p.Ile255Met

Select item 14771358285.

rs1477135828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:26709807 (GRCh38)
3:26751298 (GRCh37)
Canonical SPDI:: NC_000003.12:26709806:T:G
Gene:: LRRC3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.26709807T>G, NC_000003.11:g.26751298T>G, NM_052953.4:c.135T>G, NM_052953.3:c.135T>G, NM_052953.2:c.135T>G, XM_011533332.4:c.135T>G, XM_011533332.3:c.135T>G, XM_011533332.2:c.135T>G, XM_011533332.1:c.135T>G, NM_001317810.3:c.135T>G, NM_001317810.2:c.135T>G, NM_001317810.1:c.135T>G, NM_001317811.2:c.135T>G, NM_001317811.1:c.135T>G, NM_001317809.2:c.135T>G, NM_001317809.1:c.135T>G, NM_001317808.2:c.135T>G, NM_001317808.1:c.135T>G, XM_047447402.1:c.135T>G, NM_001395647.1:c.135T>G, NM_001395646.1:c.135T>G, NM_001395645.1:c.135T>G

Select item 14751676416.

rs1475167641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:26710365 (GRCh38)
3:26751856 (GRCh37)
Canonical SPDI:: NC_000003.12:26710364:T:C
Gene:: LRRC3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26710365T>C, NC_000003.11:g.26751856T>C, NM_052953.4:c.693T>C, NM_052953.3:c.693T>C, NM_052953.2:c.693T>C, XM_011533332.4:c.693T>C, XM_011533332.3:c.693T>C, XM_011533332.2:c.693T>C, XM_011533332.1:c.693T>C, NM_001317810.3:c.693T>C, NM_001317810.2:c.693T>C, NM_001317810.1:c.693T>C, NM_001317811.2:c.693T>C, NM_001317811.1:c.693T>C, NM_001317809.2:c.693T>C, NM_001317809.1:c.693T>C, NM_001317808.2:c.693T>C, NM_001317808.1:c.693T>C, XM_047447402.1:c.693T>C, NM_001395647.1:c.693T>C, NM_001395646.1:c.693T>C, NM_001395645.1:c.693T>C

Select item 14714054397.

rs1471405439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:26710248 (GRCh38)
3:26751739 (GRCh37)
Canonical SPDI:: NC_000003.12:26710247:T:G
Gene:: LRRC3B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26710248T>G, NC_000003.11:g.26751739T>G, NM_052953.4:c.576T>G, NM_052953.3:c.576T>G, NM_052953.2:c.576T>G, XM_011533332.4:c.576T>G, XM_011533332.3:c.576T>G, XM_011533332.2:c.576T>G, XM_011533332.1:c.576T>G, NM_001317810.3:c.576T>G, NM_001317810.2:c.576T>G, NM_001317810.1:c.576T>G, NM_001317811.2:c.576T>G, NM_001317811.1:c.576T>G, NM_001317809.2:c.576T>G, NM_001317809.1:c.576T>G, NM_001317808.2:c.576T>G, NM_001317808.1:c.576T>G, XM_047447402.1:c.576T>G, NM_001395647.1:c.576T>G, NM_001395646.1:c.576T>G, NM_001395645.1:c.576T>G

Select item 14692537728.

rs1469253772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:26710426 (GRCh38)
3:26751917 (GRCh37)
Canonical SPDI:: NC_000003.12:26710425:C:T
Gene:: LRRC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000223/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26710426C>T, NC_000003.11:g.26751917C>T, NM_052953.4:c.754C>T, NM_052953.3:c.754C>T, NM_052953.2:c.754C>T, XM_011533332.4:c.754C>T, XM_011533332.3:c.754C>T, XM_011533332.2:c.754C>T, XM_011533332.1:c.754C>T, NM_001317810.3:c.754C>T, NM_001317810.2:c.754C>T, NM_001317810.1:c.754C>T, NM_001317811.2:c.754C>T, NM_001317811.1:c.754C>T, NM_001317809.2:c.754C>T, NM_001317809.1:c.754C>T, NM_001317808.2:c.754C>T, NM_001317808.1:c.754C>T, XM_047447402.1:c.754C>T, NM_001395647.1:c.754C>T, NM_001395646.1:c.754C>T, NM_001395645.1:c.754C>T, NP_443185.1:p.Pro252Ser, XP_011531634.1:p.Pro252Ser, NP_001304739.1:p.Pro252Ser, NP_001304740.1:p.Pro252Ser, NP_001304738.1:p.Pro252Ser, NP_001304737.1:p.Pro252Ser, XP_047303358.1:p.Pro252Ser, NP_001382576.1:p.Pro252Ser, NP_001382575.1:p.Pro252Ser, NP_001382574.1:p.Pro252Ser

Select item 14691649359.

rs1469164935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:26710140 (GRCh38)
3:26751631 (GRCh37)
Canonical SPDI:: NC_000003.12:26710139:T:G
Gene:: LRRC3B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26710140T>G, NC_000003.11:g.26751631T>G, NM_052953.4:c.468T>G, NM_052953.3:c.468T>G, NM_052953.2:c.468T>G, XM_011533332.4:c.468T>G, XM_011533332.3:c.468T>G, XM_011533332.2:c.468T>G, XM_011533332.1:c.468T>G, NM_001317810.3:c.468T>G, NM_001317810.2:c.468T>G, NM_001317810.1:c.468T>G, NM_001317811.2:c.468T>G, NM_001317811.1:c.468T>G, NM_001317809.2:c.468T>G, NM_001317809.1:c.468T>G, NM_001317808.2:c.468T>G, NM_001317808.1:c.468T>G, XM_047447402.1:c.468T>G, NM_001395647.1:c.468T>G, NM_001395646.1:c.468T>G, NM_001395645.1:c.468T>G

Select item 146445258410.

rs1464452584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:26710008 (GRCh38)
3:26751499 (GRCh37)
Canonical SPDI:: NC_000003.12:26710007:T:C
Gene:: LRRC3B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.26710008T>C, NC_000003.11:g.26751499T>C, NM_052953.4:c.336T>C, NM_052953.3:c.336T>C, NM_052953.2:c.336T>C, XM_011533332.4:c.336T>C, XM_011533332.3:c.336T>C, XM_011533332.2:c.336T>C, XM_011533332.1:c.336T>C, NM_001317810.3:c.336T>C, NM_001317810.2:c.336T>C, NM_001317810.1:c.336T>C, NM_001317811.2:c.336T>C, NM_001317811.1:c.336T>C, NM_001317809.2:c.336T>C, NM_001317809.1:c.336T>C, NM_001317808.2:c.336T>C, NM_001317808.1:c.336T>C, XM_047447402.1:c.336T>C, NM_001395647.1:c.336T>C, NM_001395646.1:c.336T>C, NM_001395645.1:c.336T>C

Select item 146344526711.

rs1463445267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:26709977 (GRCh38)
3:26751468 (GRCh37)
Canonical SPDI:: NC_000003.12:26709976:T:A
Gene:: LRRC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26709977T>A, NC_000003.11:g.26751468T>A, NM_052953.4:c.305T>A, NM_052953.3:c.305T>A, NM_052953.2:c.305T>A, XM_011533332.4:c.305T>A, XM_011533332.3:c.305T>A, XM_011533332.2:c.305T>A, XM_011533332.1:c.305T>A, NM_001317810.3:c.305T>A, NM_001317810.2:c.305T>A, NM_001317810.1:c.305T>A, NM_001317811.2:c.305T>A, NM_001317811.1:c.305T>A, NM_001317809.2:c.305T>A, NM_001317809.1:c.305T>A, NM_001317808.2:c.305T>A, NM_001317808.1:c.305T>A, XM_047447402.1:c.305T>A, NM_001395647.1:c.305T>A, NM_001395646.1:c.305T>A, NM_001395645.1:c.305T>A, NP_443185.1:p.Phe102Tyr, XP_011531634.1:p.Phe102Tyr, NP_001304739.1:p.Phe102Tyr, NP_001304740.1:p.Phe102Tyr, NP_001304738.1:p.Phe102Tyr, NP_001304737.1:p.Phe102Tyr, XP_047303358.1:p.Phe102Tyr, NP_001382576.1:p.Phe102Tyr, NP_001382575.1:p.Phe102Tyr, NP_001382574.1:p.Phe102Tyr

Select item 146325417812.

rs1463254178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:26709723 (GRCh38)
3:26751214 (GRCh37)
Canonical SPDI:: NC_000003.12:26709722:C:T
Gene:: LRRC3B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.26709723C>T, NC_000003.11:g.26751214C>T, NM_052953.4:c.51C>T, NM_052953.3:c.51C>T, NM_052953.2:c.51C>T, XM_011533332.4:c.51C>T, XM_011533332.3:c.51C>T, XM_011533332.2:c.51C>T, XM_011533332.1:c.51C>T, NM_001317810.3:c.51C>T, NM_001317810.2:c.51C>T, NM_001317810.1:c.51C>T, NM_001317811.2:c.51C>T, NM_001317811.1:c.51C>T, NM_001317809.2:c.51C>T, NM_001317809.1:c.51C>T, NM_001317808.2:c.51C>T, NM_001317808.1:c.51C>T, XM_047447402.1:c.51C>T, NM_001395647.1:c.51C>T, NM_001395646.1:c.51C>T, NM_001395645.1:c.51C>T

Select item 146310308513.

rs1463103085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:26709919 (GRCh38)
3:26751410 (GRCh37)
Canonical SPDI:: NC_000003.12:26709918:A:G
Gene:: LRRC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.26709919A>G, NC_000003.11:g.26751410A>G, NM_052953.4:c.247A>G, NM_052953.3:c.247A>G, NM_052953.2:c.247A>G, XM_011533332.4:c.247A>G, XM_011533332.3:c.247A>G, XM_011533332.2:c.247A>G, XM_011533332.1:c.247A>G, NM_001317810.3:c.247A>G, NM_001317810.2:c.247A>G, NM_001317810.1:c.247A>G, NM_001317811.2:c.247A>G, NM_001317811.1:c.247A>G, NM_001317809.2:c.247A>G, NM_001317809.1:c.247A>G, NM_001317808.2:c.247A>G, NM_001317808.1:c.247A>G, XM_047447402.1:c.247A>G, NM_001395647.1:c.247A>G, NM_001395646.1:c.247A>G, NM_001395645.1:c.247A>G, NP_443185.1:p.Ile83Val, XP_011531634.1:p.Ile83Val, NP_001304739.1:p.Ile83Val, NP_001304740.1:p.Ile83Val, NP_001304738.1:p.Ile83Val, NP_001304737.1:p.Ile83Val, XP_047303358.1:p.Ile83Val, NP_001382576.1:p.Ile83Val, NP_001382575.1:p.Ile83Val, NP_001382574.1:p.Ile83Val

Select item 146148740814.

rs1461487408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:26709876 (GRCh38)
3:26751367 (GRCh37)
Canonical SPDI:: NC_000003.12:26709875:A:T
Gene:: LRRC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26709876A>T, NC_000003.11:g.26751367A>T, NM_052953.4:c.204A>T, NM_052953.3:c.204A>T, NM_052953.2:c.204A>T, XM_011533332.4:c.204A>T, XM_011533332.3:c.204A>T, XM_011533332.2:c.204A>T, XM_011533332.1:c.204A>T, NM_001317810.3:c.204A>T, NM_001317810.2:c.204A>T, NM_001317810.1:c.204A>T, NM_001317811.2:c.204A>T, NM_001317811.1:c.204A>T, NM_001317809.2:c.204A>T, NM_001317809.1:c.204A>T, NM_001317808.2:c.204A>T, NM_001317808.1:c.204A>T, XM_047447402.1:c.204A>T, NM_001395647.1:c.204A>T, NM_001395646.1:c.204A>T, NM_001395645.1:c.204A>T, NP_443185.1:p.Leu68Phe, XP_011531634.1:p.Leu68Phe, NP_001304739.1:p.Leu68Phe, NP_001304740.1:p.Leu68Phe, NP_001304738.1:p.Leu68Phe, NP_001304737.1:p.Leu68Phe, XP_047303358.1:p.Leu68Phe, NP_001382576.1:p.Leu68Phe, NP_001382575.1:p.Leu68Phe, NP_001382574.1:p.Leu68Phe

Select item 146005345815.

rs1460053458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:26709869 (GRCh38)
3:26751360 (GRCh37)
Canonical SPDI:: NC_000003.12:26709868:C:T
Gene:: LRRC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.26709869C>T, NC_000003.11:g.26751360C>T, NM_052953.4:c.197C>T, NM_052953.3:c.197C>T, NM_052953.2:c.197C>T, XM_011533332.4:c.197C>T, XM_011533332.3:c.197C>T, XM_011533332.2:c.197C>T, XM_011533332.1:c.197C>T, NM_001317810.3:c.197C>T, NM_001317810.2:c.197C>T, NM_001317810.1:c.197C>T, NM_001317811.2:c.197C>T, NM_001317811.1:c.197C>T, NM_001317809.2:c.197C>T, NM_001317809.1:c.197C>T, NM_001317808.2:c.197C>T, NM_001317808.1:c.197C>T, XM_047447402.1:c.197C>T, NM_001395647.1:c.197C>T, NM_001395646.1:c.197C>T, NM_001395645.1:c.197C>T, NP_443185.1:p.Thr66Ile, XP_011531634.1:p.Thr66Ile, NP_001304739.1:p.Thr66Ile, NP_001304740.1:p.Thr66Ile, NP_001304738.1:p.Thr66Ile, NP_001304737.1:p.Thr66Ile, XP_047303358.1:p.Thr66Ile, NP_001382576.1:p.Thr66Ile, NP_001382575.1:p.Thr66Ile, NP_001382574.1:p.Thr66Ile

Select item 145991599116.

rs1459915991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:26710377 (GRCh38)
3:26751868 (GRCh37)
Canonical SPDI:: NC_000003.12:26710376:C:A,NC_000003.12:26710376:C:T
Gene:: LRRC3B (Varview)
Functional Consequence:: synonymous_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=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.26710377C>A, NC_000003.12:g.26710377C>T, NC_000003.11:g.26751868C>A, NC_000003.11:g.26751868C>T, NM_052953.4:c.705C>A, NM_052953.4:c.705C>T, NM_052953.3:c.705C>A, NM_052953.3:c.705C>T, NM_052953.2:c.705C>A, NM_052953.2:c.705C>T, XM_011533332.4:c.705C>A, XM_011533332.4:c.705C>T, XM_011533332.3:c.705C>A, XM_011533332.3:c.705C>T, XM_011533332.2:c.705C>A, XM_011533332.2:c.705C>T, XM_011533332.1:c.705C>A, XM_011533332.1:c.705C>T, NM_001317810.3:c.705C>A, NM_001317810.3:c.705C>T, NM_001317810.2:c.705C>A, NM_001317810.2:c.705C>T, NM_001317810.1:c.705C>A, NM_001317810.1:c.705C>T, NM_001317811.2:c.705C>A, NM_001317811.2:c.705C>T, NM_001317811.1:c.705C>A, NM_001317811.1:c.705C>T, NM_001317809.2:c.705C>A, NM_001317809.2:c.705C>T, NM_001317809.1:c.705C>A, NM_001317809.1:c.705C>T, NM_001317808.2:c.705C>A, NM_001317808.2:c.705C>T, NM_001317808.1:c.705C>A, NM_001317808.1:c.705C>T, XM_047447402.1:c.705C>A, XM_047447402.1:c.705C>T, NM_001395647.1:c.705C>A, NM_001395647.1:c.705C>T, NM_001395646.1:c.705C>A, NM_001395646.1:c.705C>T, NM_001395645.1:c.705C>A, NM_001395645.1:c.705C>T, NP_443185.1:p.His235Gln, XP_011531634.1:p.His235Gln, NP_001304739.1:p.His235Gln, NP_001304740.1:p.His235Gln, NP_001304738.1:p.His235Gln, NP_001304737.1:p.His235Gln, XP_047303358.1:p.His235Gln, NP_001382576.1:p.His235Gln, NP_001382575.1:p.His235Gln, NP_001382574.1:p.His235Gln

Select item 145882442017.

rs1458824420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:26710032 (GRCh38)
3:26751523 (GRCh37)
Canonical SPDI:: NC_000003.12:26710031:G:A
Gene:: LRRC3B (Varview)
Functional Consequence:: synonymous_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_000003.12:g.26710032G>A, NC_000003.11:g.26751523G>A, NM_052953.4:c.360G>A, NM_052953.3:c.360G>A, NM_052953.2:c.360G>A, XM_011533332.4:c.360G>A, XM_011533332.3:c.360G>A, XM_011533332.2:c.360G>A, XM_011533332.1:c.360G>A, NM_001317810.3:c.360G>A, NM_001317810.2:c.360G>A, NM_001317810.1:c.360G>A, NM_001317811.2:c.360G>A, NM_001317811.1:c.360G>A, NM_001317809.2:c.360G>A, NM_001317809.1:c.360G>A, NM_001317808.2:c.360G>A, NM_001317808.1:c.360G>A, XM_047447402.1:c.360G>A, NM_001395647.1:c.360G>A, NM_001395646.1:c.360G>A, NM_001395645.1:c.360G>A

Select item 145365770318.

rs1453657703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:26709697 (GRCh38)
3:26751188 (GRCh37)
Canonical SPDI:: NC_000003.12:26709696:A:T
Gene:: LRRC3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.26709697A>T, NC_000003.11:g.26751188A>T, NM_052953.4:c.25A>T, NM_052953.3:c.25A>T, NM_052953.2:c.25A>T, XM_011533332.4:c.25A>T, XM_011533332.3:c.25A>T, XM_011533332.2:c.25A>T, XM_011533332.1:c.25A>T, NM_001317810.3:c.25A>T, NM_001317810.2:c.25A>T, NM_001317810.1:c.25A>T, NM_001317811.2:c.25A>T, NM_001317811.1:c.25A>T, NM_001317809.2:c.25A>T, NM_001317809.1:c.25A>T, NM_001317808.2:c.25A>T, NM_001317808.1:c.25A>T, XM_047447402.1:c.25A>T, NM_001395647.1:c.25A>T, NM_001395646.1:c.25A>T, NM_001395645.1:c.25A>T, NP_443185.1:p.Thr9Ser, XP_011531634.1:p.Thr9Ser, NP_001304739.1:p.Thr9Ser, NP_001304740.1:p.Thr9Ser, NP_001304738.1:p.Thr9Ser, NP_001304737.1:p.Thr9Ser, XP_047303358.1:p.Thr9Ser, NP_001382576.1:p.Thr9Ser, NP_001382575.1:p.Thr9Ser, NP_001382574.1:p.Thr9Ser

Select item 144765647019.

rs1447656470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:26709841 (GRCh38)
3:26751332 (GRCh37)
Canonical SPDI:: NC_000003.12:26709840:G:A,NC_000003.12:26709840:G:C
Gene:: LRRC3B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.26709841G>A, NC_000003.12:g.26709841G>C, NC_000003.11:g.26751332G>A, NC_000003.11:g.26751332G>C, NM_052953.4:c.169G>A, NM_052953.4:c.169G>C, NM_052953.3:c.169G>A, NM_052953.3:c.169G>C, NM_052953.2:c.169G>A, NM_052953.2:c.169G>C, XM_011533332.4:c.169G>A, XM_011533332.4:c.169G>C, XM_011533332.3:c.169G>A, XM_011533332.3:c.169G>C, XM_011533332.2:c.169G>A, XM_011533332.2:c.169G>C, XM_011533332.1:c.169G>A, XM_011533332.1:c.169G>C, NM_001317810.3:c.169G>A, NM_001317810.3:c.169G>C, NM_001317810.2:c.169G>A, NM_001317810.2:c.169G>C, NM_001317810.1:c.169G>A, NM_001317810.1:c.169G>C, NM_001317811.2:c.169G>A, NM_001317811.2:c.169G>C, NM_001317811.1:c.169G>A, NM_001317811.1:c.169G>C, NM_001317809.2:c.169G>A, NM_001317809.2:c.169G>C, NM_001317809.1:c.169G>A, NM_001317809.1:c.169G>C, NM_001317808.2:c.169G>A, NM_001317808.2:c.169G>C, NM_001317808.1:c.169G>A, NM_001317808.1:c.169G>C, XM_047447402.1:c.169G>A, XM_047447402.1:c.169G>C, NM_001395647.1:c.169G>A, NM_001395647.1:c.169G>C, NM_001395646.1:c.169G>A, NM_001395646.1:c.169G>C, NM_001395645.1:c.169G>A, NM_001395645.1:c.169G>C, NP_443185.1:p.Glu57Lys, NP_443185.1:p.Glu57Gln, XP_011531634.1:p.Glu57Lys, XP_011531634.1:p.Glu57Gln, NP_001304739.1:p.Glu57Lys, NP_001304739.1:p.Glu57Gln, NP_001304740.1:p.Glu57Lys, NP_001304740.1:p.Glu57Gln, NP_001304738.1:p.Glu57Lys, NP_001304738.1:p.Glu57Gln, NP_001304737.1:p.Glu57Lys, NP_001304737.1:p.Glu57Gln, XP_047303358.1:p.Glu57Lys, XP_047303358.1:p.Glu57Gln, NP_001382576.1:p.Glu57Lys, NP_001382576.1:p.Glu57Gln, NP_001382575.1:p.Glu57Lys, NP_001382575.1:p.Glu57Gln, NP_001382574.1:p.Glu57Lys, NP_001382574.1:p.Glu57Gln

Select item 144488255020.

rs1444882550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:26710308 (GRCh38)
3:26751799 (GRCh37)
Canonical SPDI:: NC_000003.12:26710307:C:G
Gene:: LRRC3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.26710308C>G, NC_000003.11:g.26751799C>G, NM_052953.4:c.636C>G, NM_052953.3:c.636C>G, NM_052953.2:c.636C>G, XM_011533332.4:c.636C>G, XM_011533332.3:c.636C>G, XM_011533332.2:c.636C>G, XM_011533332.1:c.636C>G, NM_001317810.3:c.636C>G, NM_001317810.2:c.636C>G, NM_001317810.1:c.636C>G, NM_001317811.2:c.636C>G, NM_001317811.1:c.636C>G, NM_001317809.2:c.636C>G, NM_001317809.1:c.636C>G, NM_001317808.2:c.636C>G, NM_001317808.1:c.636C>G, XM_047447402.1:c.636C>G, NM_001395647.1:c.636C>G, NM_001395646.1:c.636C>G, NM_001395645.1:c.636C>G

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Result Filters

Clinical Significance

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

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Links from Protein

Items: 1 to 20 of 189

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