SNP Links for Protein (Select 530406516) - SNP

Select item 14899727571.

rs1489972757 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:73703866 (GRCh38)
15:73996207 (GRCh37)
Canonical SPDI:: NC_000015.10:73703865:T:A
Gene:: CD276 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.73703866T>A, NC_000015.9:g.73996207T>A, NG_051242.1:g.24901T>A, NM_001024736.2:c.941T>A, NM_001024736.1:c.941T>A, NM_001329629.2:c.503T>A, NM_001329629.1:c.503T>A, XM_005254700.5:c.941T>A, XM_005254700.4:c.941T>A, XM_005254700.3:c.941T>A, XM_005254700.2:c.941T>A, XM_005254700.1:c.941T>A, XM_011522095.3:c.941T>A, XM_011522095.2:c.941T>A, XM_011522095.1:c.941T>A, XM_017022638.2:c.941T>A, XM_017022638.1:c.941T>A, XM_047433148.1:c.941T>A, XM_047433147.1:c.941T>A, NP_001019907.1:p.Phe314Tyr, NP_001316558.1:p.Phe168Tyr, XP_005254757.1:p.Phe314Tyr, XP_011520397.1:p.Phe314Tyr, XP_016878127.1:p.Phe314Tyr, XP_047289104.1:p.Phe314Tyr, XP_047289103.1:p.Phe314Tyr

Select item 14899533062.

rs1489953306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:73702483 (GRCh38)
15:73994824 (GRCh37)
Canonical SPDI:: NC_000015.10:73702482:G:C
Gene:: CD276 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.73702483G>C, NC_000015.9:g.73994824G>C, NG_051242.1:g.23518G>C, NM_025240.3:c.308G>C, NM_025240.2:c.308G>C, NM_001024736.2:c.308G>C, NM_001024736.1:c.308G>C, NM_001329629.2:c.-131G>C, NM_001329629.1:c.-131G>C, NM_001329628.2:c.308G>C, NM_001329628.1:c.308G>C, XM_005254700.5:c.308G>C, XM_005254700.4:c.308G>C, XM_005254700.3:c.308G>C, XM_005254700.2:c.308G>C, XM_005254700.1:c.308G>C, XM_011522095.3:c.308G>C, XM_011522095.2:c.308G>C, XM_011522095.1:c.308G>C, XM_017022638.2:c.308G>C, XM_017022638.1:c.308G>C, XM_047433148.1:c.308G>C, XM_047433147.1:c.308G>C, NP_079516.1:p.Gly103Ala, NP_001019907.1:p.Gly103Ala, NP_001316557.1:p.Gly103Ala, XP_005254757.1:p.Gly103Ala, XP_011520397.1:p.Gly103Ala, XP_016878127.1:p.Gly103Ala, XP_047289104.1:p.Gly103Ala, XP_047289103.1:p.Gly103Ala

Select item 14891359383.

rs1489135938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:73703739 (GRCh38)
15:73996080 (GRCh37)
Canonical SPDI:: NC_000015.10:73703738:C:A
Gene:: CD276 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.73703739C>A, NC_000015.9:g.73996080C>A, NG_051242.1:g.24774C>A, NM_001024736.2:c.814C>A, NM_001024736.1:c.814C>A, NM_001329629.2:c.376C>A, NM_001329629.1:c.376C>A, XM_005254700.5:c.814C>A, XM_005254700.4:c.814C>A, XM_005254700.3:c.814C>A, XM_005254700.2:c.814C>A, XM_005254700.1:c.814C>A, XM_011522095.3:c.814C>A, XM_011522095.2:c.814C>A, XM_011522095.1:c.814C>A, XM_017022638.2:c.814C>A, XM_017022638.1:c.814C>A, XM_047433148.1:c.814C>A, XM_047433147.1:c.814C>A, NP_001019907.1:p.Pro272Thr, NP_001316558.1:p.Pro126Thr, XP_005254757.1:p.Pro272Thr, XP_011520397.1:p.Pro272Thr, XP_016878127.1:p.Pro272Thr, XP_047289104.1:p.Pro272Thr, XP_047289103.1:p.Pro272Thr

Select item 14888585074.

rs1488858507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:73708416 (GRCh38)
15:74000757 (GRCh37)
Canonical SPDI:: NC_000015.10:73708415:G:T
Gene:: CD276 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73708416G>T, NC_000015.9:g.74000757G>T, NG_051242.1:g.29451G>T, NM_025240.3:c.793G>T, NM_025240.2:c.793G>T, NM_001024736.2:c.1447G>T, NM_001024736.1:c.1447G>T, NM_001329629.2:c.1009G>T, NM_001329629.1:c.1009G>T, NM_001329628.2:c.793G>T, NM_001329628.1:c.793G>T, XM_005254700.5:c.1447G>T, XM_005254700.4:c.1447G>T, XM_005254700.3:c.1447G>T, XM_005254700.2:c.1447G>T, XM_005254700.1:c.1447G>T, XM_011522095.3:c.1447G>T, XM_011522095.2:c.1447G>T, XM_011522095.1:c.1447G>T, XM_017022638.2:c.1447G>T, XM_017022638.1:c.1447G>T, XM_047433148.1:c.1447G>T, XM_047433147.1:c.1447G>T, NP_079516.1:p.Ala265Ser, NP_001019907.1:p.Ala483Ser, NP_001316558.1:p.Ala337Ser, NP_001316557.1:p.Ala265Ser, XP_005254757.1:p.Ala483Ser, XP_011520397.1:p.Ala483Ser, XP_016878127.1:p.Ala483Ser, XP_047289104.1:p.Ala483Ser, XP_047289103.1:p.Ala483Ser

Select item 14856987255.

rs1485698725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:73703694 (GRCh38)
15:73996035 (GRCh37)
Canonical SPDI:: NC_000015.10:73703693:G:T
Gene:: CD276 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.73703694G>T, NC_000015.9:g.73996035G>T, NG_051242.1:g.24729G>T, NM_001024736.2:c.769G>T, NM_001024736.1:c.769G>T, NM_001329629.2:c.331G>T, NM_001329629.1:c.331G>T, XM_005254700.5:c.769G>T, XM_005254700.4:c.769G>T, XM_005254700.3:c.769G>T, XM_005254700.2:c.769G>T, XM_005254700.1:c.769G>T, XM_011522095.3:c.769G>T, XM_011522095.2:c.769G>T, XM_011522095.1:c.769G>T, XM_017022638.2:c.769G>T, XM_017022638.1:c.769G>T, XM_047433148.1:c.769G>T, XM_047433147.1:c.769G>T, NP_001019907.1:p.Val257Leu, NP_001316558.1:p.Val111Leu, XP_005254757.1:p.Val257Leu, XP_011520397.1:p.Val257Leu, XP_016878127.1:p.Val257Leu, XP_047289104.1:p.Val257Leu, XP_047289103.1:p.Val257Leu

Select item 14845552966.

rs1484555296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:73704292 (GRCh38)
15:73996633 (GRCh37)
Canonical SPDI:: NC_000015.10:73704291:C:T
Gene:: CD276 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73704292C>T, NC_000015.9:g.73996633C>T, NG_051242.1:g.25327C>T, NM_025240.3:c.535C>T, NM_025240.2:c.535C>T, NM_001024736.2:c.1189C>T, NM_001024736.1:c.1189C>T, NM_001329629.2:c.751C>T, NM_001329629.1:c.751C>T, NM_001329628.2:c.535C>T, NM_001329628.1:c.535C>T, XM_005254700.5:c.1189C>T, XM_005254700.4:c.1189C>T, XM_005254700.3:c.1189C>T, XM_005254700.2:c.1189C>T, XM_005254700.1:c.1189C>T, XM_011522095.3:c.1189C>T, XM_011522095.2:c.1189C>T, XM_011522095.1:c.1189C>T, XM_017022638.2:c.1189C>T, XM_017022638.1:c.1189C>T, XM_047433148.1:c.1189C>T, XM_047433147.1:c.1189C>T, NP_079516.1:p.Gln179Ter, NP_001019907.1:p.Gln397Ter, NP_001316558.1:p.Gln251Ter, NP_001316557.1:p.Gln179Ter, XP_005254757.1:p.Gln397Ter, XP_011520397.1:p.Gln397Ter, XP_016878127.1:p.Gln397Ter, XP_047289104.1:p.Gln397Ter, XP_047289103.1:p.Gln397Ter

Select item 14839971967.

rs1483997196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:73703688 (GRCh38)
15:73996029 (GRCh37)
Canonical SPDI:: NC_000015.10:73703687:C:T
Gene:: CD276 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.73703688C>T, NC_000015.9:g.73996029C>T, NG_051242.1:g.24723C>T, NM_001024736.2:c.763C>T, NM_001024736.1:c.763C>T, NM_001329629.2:c.325C>T, NM_001329629.1:c.325C>T, XM_005254700.5:c.763C>T, XM_005254700.4:c.763C>T, XM_005254700.3:c.763C>T, XM_005254700.2:c.763C>T, XM_005254700.1:c.763C>T, XM_011522095.3:c.763C>T, XM_011522095.2:c.763C>T, XM_011522095.1:c.763C>T, XM_017022638.2:c.763C>T, XM_017022638.1:c.763C>T, XM_047433148.1:c.763C>T, XM_047433147.1:c.763C>T, NP_001019907.1:p.Pro255Ser, NP_001316558.1:p.Pro109Ser, XP_005254757.1:p.Pro255Ser, XP_011520397.1:p.Pro255Ser, XP_016878127.1:p.Pro255Ser, XP_047289104.1:p.Pro255Ser, XP_047289103.1:p.Pro255Ser

Select item 14830227778.

rs1483022777 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 15:73703766 (GRCh38)
15:73996107 (GRCh37)
Canonical SPDI:: NC_000015.10:73703765:C:
Gene:: CD276 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.73703766del, NC_000015.9:g.73996107del, NG_051242.1:g.24801del, NM_001024736.2:c.841del, NM_001024736.1:c.841del, NM_001329629.2:c.403del, NM_001329629.1:c.403del, XM_005254700.5:c.841del, XM_005254700.4:c.841del, XM_005254700.3:c.841del, XM_005254700.2:c.841del, XM_005254700.1:c.841del, XM_011522095.3:c.841del, XM_011522095.2:c.841del, XM_011522095.1:c.841del, XM_017022638.2:c.841del, XM_017022638.1:c.841del, XM_047433148.1:c.841del, XM_047433147.1:c.841del, NP_001019907.1:p.Leu281fs, NP_001316558.1:p.Leu135fs, XP_005254757.1:p.Leu281fs, XP_011520397.1:p.Leu281fs, XP_016878127.1:p.Leu281fs, XP_047289104.1:p.Leu281fs, XP_047289103.1:p.Leu281fs

Select item 14822139229.

rs1482213922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:73703682 (GRCh38)
15:73996023 (GRCh37)
Canonical SPDI:: NC_000015.10:73703681:G:A
Gene:: CD276 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73703682G>A, NC_000015.9:g.73996023G>A, NG_051242.1:g.24717G>A, NM_001024736.2:c.757G>A, NM_001024736.1:c.757G>A, NM_001329629.2:c.319G>A, NM_001329629.1:c.319G>A, XM_005254700.5:c.757G>A, XM_005254700.4:c.757G>A, XM_005254700.3:c.757G>A, XM_005254700.2:c.757G>A, XM_005254700.1:c.757G>A, XM_011522095.3:c.757G>A, XM_011522095.2:c.757G>A, XM_011522095.1:c.757G>A, XM_017022638.2:c.757G>A, XM_017022638.1:c.757G>A, XM_047433148.1:c.757G>A, XM_047433147.1:c.757G>A, NP_001019907.1:p.Glu253Lys, NP_001316558.1:p.Glu107Lys, XP_005254757.1:p.Glu253Lys, XP_011520397.1:p.Glu253Lys, XP_016878127.1:p.Glu253Lys, XP_047289104.1:p.Glu253Lys, XP_047289103.1:p.Glu253Lys

Select item 147856084910.

rs1478560849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:73704296 (GRCh38)
15:73996637 (GRCh37)
Canonical SPDI:: NC_000015.10:73704295:A:T
Gene:: CD276 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73704296A>T, NC_000015.9:g.73996637A>T, NG_051242.1:g.25331A>T, NM_025240.3:c.539A>T, NM_025240.2:c.539A>T, NM_001024736.2:c.1193A>T, NM_001024736.1:c.1193A>T, NM_001329629.2:c.755A>T, NM_001329629.1:c.755A>T, NM_001329628.2:c.539A>T, NM_001329628.1:c.539A>T, XM_005254700.5:c.1193A>T, XM_005254700.4:c.1193A>T, XM_005254700.3:c.1193A>T, XM_005254700.2:c.1193A>T, XM_005254700.1:c.1193A>T, XM_011522095.3:c.1193A>T, XM_011522095.2:c.1193A>T, XM_011522095.1:c.1193A>T, XM_017022638.2:c.1193A>T, XM_017022638.1:c.1193A>T, XM_047433148.1:c.1193A>T, XM_047433147.1:c.1193A>T, NP_079516.1:p.Asp180Val, NP_001019907.1:p.Asp398Val, NP_001316558.1:p.Asp252Val, NP_001316557.1:p.Asp180Val, XP_005254757.1:p.Asp398Val, XP_011520397.1:p.Asp398Val, XP_016878127.1:p.Asp398Val, XP_047289104.1:p.Asp398Val, XP_047289103.1:p.Asp398Val

Select item 147823551111.

rs1478235511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:73708357 (GRCh38)
15:74000698 (GRCh37)
Canonical SPDI:: NC_000015.10:73708356:C:T
Gene:: CD276 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73708357C>T, NC_000015.9:g.74000698C>T, NG_051242.1:g.29392C>T, NM_025240.3:c.734C>T, NM_025240.2:c.734C>T, NM_001024736.2:c.1388C>T, NM_001024736.1:c.1388C>T, NM_001329629.2:c.950C>T, NM_001329629.1:c.950C>T, NM_001329628.2:c.734C>T, NM_001329628.1:c.734C>T, XM_005254700.5:c.1388C>T, XM_005254700.4:c.1388C>T, XM_005254700.3:c.1388C>T, XM_005254700.2:c.1388C>T, XM_005254700.1:c.1388C>T, XM_011522095.3:c.1388C>T, XM_011522095.2:c.1388C>T, XM_011522095.1:c.1388C>T, XM_017022638.2:c.1388C>T, XM_017022638.1:c.1388C>T, XM_047433148.1:c.1388C>T, XM_047433147.1:c.1388C>T, NP_079516.1:p.Pro245Leu, NP_001019907.1:p.Pro463Leu, NP_001316558.1:p.Pro317Leu, NP_001316557.1:p.Pro245Leu, XP_005254757.1:p.Pro463Leu, XP_011520397.1:p.Pro463Leu, XP_016878127.1:p.Pro463Leu, XP_047289104.1:p.Pro463Leu, XP_047289103.1:p.Pro463Leu

Select item 147811155612.

rs1478111556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:73703750 (GRCh38)
15:73996091 (GRCh37)
Canonical SPDI:: NC_000015.10:73703749:C:T
Gene:: CD276 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73703750C>T, NC_000015.9:g.73996091C>T, NG_051242.1:g.24785C>T, NM_001024736.2:c.825C>T, NM_001024736.1:c.825C>T, NM_001329629.2:c.387C>T, NM_001329629.1:c.387C>T, XM_005254700.5:c.825C>T, XM_005254700.4:c.825C>T, XM_005254700.3:c.825C>T, XM_005254700.2:c.825C>T, XM_005254700.1:c.825C>T, XM_011522095.3:c.825C>T, XM_011522095.2:c.825C>T, XM_011522095.1:c.825C>T, XM_017022638.2:c.825C>T, XM_017022638.1:c.825C>T, XM_047433148.1:c.825C>T, XM_047433147.1:c.825C>T

Select item 147746667913.

rs1477466679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:73702776 (GRCh38)
15:73995117 (GRCh37)
Canonical SPDI:: NC_000015.10:73702775:C:G
Gene:: CD276 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73702776C>G, NC_000015.9:g.73995117C>G, NG_051242.1:g.23811C>G, NM_001024736.2:c.423C>G, NM_001024736.1:c.423C>G, NM_001329629.2:c.-16C>G, NM_001329629.1:c.-16C>G, XM_005254700.5:c.423C>G, XM_005254700.4:c.423C>G, XM_005254700.3:c.423C>G, XM_005254700.2:c.423C>G, XM_005254700.1:c.423C>G, XM_011522095.3:c.423C>G, XM_011522095.2:c.423C>G, XM_011522095.1:c.423C>G, XM_017022638.2:c.423C>G, XM_017022638.1:c.423C>G, XM_047433148.1:c.423C>G, XM_047433147.1:c.423C>G

Select item 147527185614.

rs1475271856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:73702373 (GRCh38)
15:73994714 (GRCh37)
Canonical SPDI:: NC_000015.10:73702372:C:G
Gene:: CD276 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_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)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.73702373C>G, NC_000015.9:g.73994714C>G, NG_051242.1:g.23408C>G, NM_025240.3:c.198C>G, NM_025240.2:c.198C>G, NM_001024736.2:c.198C>G, NM_001024736.1:c.198C>G, NM_001329629.2:c.-241C>G, NM_001329629.1:c.-241C>G, NM_001329628.2:c.198C>G, NM_001329628.1:c.198C>G, XM_005254700.5:c.198C>G, XM_005254700.4:c.198C>G, XM_005254700.3:c.198C>G, XM_005254700.2:c.198C>G, XM_005254700.1:c.198C>G, XM_011522095.3:c.198C>G, XM_011522095.2:c.198C>G, XM_011522095.1:c.198C>G, XM_017022638.2:c.198C>G, XM_017022638.1:c.198C>G, XM_047433148.1:c.198C>G, XM_047433147.1:c.198C>G, NP_079516.1:p.Ile66Met, NP_001019907.1:p.Ile66Met, NP_001316557.1:p.Ile66Met, XP_005254757.1:p.Ile66Met, XP_011520397.1:p.Ile66Met, XP_016878127.1:p.Ile66Met, XP_047289104.1:p.Ile66Met, XP_047289103.1:p.Ile66Met

Select item 147447640015.

rs1474476400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:73699679 (GRCh38)
15:73992020 (GRCh37)
Canonical SPDI:: NC_000015.10:73699678:G:A
Gene:: CD276 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73699679G>A, NC_000015.9:g.73992020G>A, NG_051242.1:g.20714G>A, NM_025240.3:c.40G>A, NM_025240.2:c.40G>A, NM_001024736.2:c.40G>A, NM_001024736.1:c.40G>A, NM_001329628.2:c.40G>A, NM_001329628.1:c.40G>A, XM_005254700.5:c.40G>A, XM_005254700.4:c.40G>A, XM_005254700.3:c.40G>A, XM_005254700.2:c.40G>A, XM_005254700.1:c.40G>A, XM_011522095.3:c.40G>A, XM_011522095.2:c.40G>A, XM_011522095.1:c.40G>A, XM_017022638.2:c.40G>A, XM_017022638.1:c.40G>A, XM_047433148.1:c.40G>A, XM_047433147.1:c.40G>A, NP_079516.1:p.Val14Met, NP_001019907.1:p.Val14Met, NP_001316557.1:p.Val14Met, XP_005254757.1:p.Val14Met, XP_011520397.1:p.Val14Met, XP_016878127.1:p.Val14Met, XP_047289104.1:p.Val14Met, XP_047289103.1:p.Val14Met

Select item 147436414516.

rs1474364145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:73704355 (GRCh38)
15:73996696 (GRCh37)
Canonical SPDI:: NC_000015.10:73704354:G:A
Gene:: CD276 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.73704355G>A, NC_000015.9:g.73996696G>A, NG_051242.1:g.25390G>A, NM_025240.3:c.598G>A, NM_025240.2:c.598G>A, NM_001024736.2:c.1252G>A, NM_001024736.1:c.1252G>A, NM_001329629.2:c.814G>A, NM_001329629.1:c.814G>A, NM_001329628.2:c.598G>A, NM_001329628.1:c.598G>A, XM_005254700.5:c.1252G>A, XM_005254700.4:c.1252G>A, XM_005254700.3:c.1252G>A, XM_005254700.2:c.1252G>A, XM_005254700.1:c.1252G>A, XM_011522095.3:c.1252G>A, XM_011522095.2:c.1252G>A, XM_011522095.1:c.1252G>A, XM_017022638.2:c.1252G>A, XM_017022638.1:c.1252G>A, XM_047433148.1:c.1252G>A, XM_047433147.1:c.1252G>A, NP_079516.1:p.Gly200Ser, NP_001019907.1:p.Gly418Ser, NP_001316558.1:p.Gly272Ser, NP_001316557.1:p.Gly200Ser, XP_005254757.1:p.Gly418Ser, XP_011520397.1:p.Gly418Ser, XP_016878127.1:p.Gly418Ser, XP_047289104.1:p.Gly418Ser, XP_047289103.1:p.Gly418Ser

Select item 147194627117.

rs1471946271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:73708444 (GRCh38)
15:74000785 (GRCh37)
Canonical SPDI:: NC_000015.10:73708443:T:A,NC_000015.10:73708443:T:C
Gene:: CD276 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.73708444T>A, NC_000015.10:g.73708444T>C, NC_000015.9:g.74000785T>A, NC_000015.9:g.74000785T>C, NG_051242.1:g.29479T>A, NG_051242.1:g.29479T>C, NM_025240.3:c.821T>A, NM_025240.3:c.821T>C, NM_025240.2:c.821T>A, NM_025240.2:c.821T>C, NM_001024736.2:c.1475T>A, NM_001024736.2:c.1475T>C, NM_001024736.1:c.1475T>A, NM_001024736.1:c.1475T>C, NM_001329629.2:c.1037T>A, NM_001329629.2:c.1037T>C, NM_001329629.1:c.1037T>A, NM_001329629.1:c.1037T>C, NM_001329628.2:c.821T>A, NM_001329628.2:c.821T>C, NM_001329628.1:c.821T>A, NM_001329628.1:c.821T>C, XM_005254700.5:c.1475T>A, XM_005254700.5:c.1475T>C, XM_005254700.4:c.1475T>A, XM_005254700.4:c.1475T>C, XM_005254700.3:c.1475T>A, XM_005254700.3:c.1475T>C, XM_005254700.2:c.1475T>A, XM_005254700.2:c.1475T>C, XM_005254700.1:c.1475T>A, XM_005254700.1:c.1475T>C, XM_011522095.3:c.1475T>A, XM_011522095.3:c.1475T>C, XM_011522095.2:c.1475T>A, XM_011522095.2:c.1475T>C, XM_011522095.1:c.1475T>A, XM_011522095.1:c.1475T>C, XM_017022638.2:c.1475T>A, XM_017022638.2:c.1475T>C, XM_017022638.1:c.1475T>A, XM_017022638.1:c.1475T>C, XM_047433148.1:c.1475T>A, XM_047433148.1:c.1475T>C, XM_047433147.1:c.1475T>A, XM_047433147.1:c.1475T>C, NP_079516.1:p.Ile274Asn, NP_079516.1:p.Ile274Thr, NP_001019907.1:p.Ile492Asn, NP_001019907.1:p.Ile492Thr, NP_001316558.1:p.Ile346Asn, NP_001316558.1:p.Ile346Thr, NP_001316557.1:p.Ile274Asn, NP_001316557.1:p.Ile274Thr, XP_005254757.1:p.Ile492Asn, XP_005254757.1:p.Ile492Thr, XP_011520397.1:p.Ile492Asn, XP_011520397.1:p.Ile492Thr, XP_016878127.1:p.Ile492Asn, XP_016878127.1:p.Ile492Thr, XP_047289104.1:p.Ile492Asn, XP_047289104.1:p.Ile492Thr, XP_047289103.1:p.Ile492Asn, XP_047289103.1:p.Ile492Thr

Select item 146893199818.

rs1468931998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:73699697 (GRCh38)
15:73992038 (GRCh37)
Canonical SPDI:: NC_000015.10:73699696:G:C
Gene:: CD276 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73699697G>C, NC_000015.9:g.73992038G>C, NG_051242.1:g.20732G>C, NM_025240.3:c.58G>C, NM_025240.2:c.58G>C, NM_001024736.2:c.58G>C, NM_001024736.1:c.58G>C, NM_001329628.2:c.58G>C, NM_001329628.1:c.58G>C, XM_005254700.5:c.58G>C, XM_005254700.4:c.58G>C, XM_005254700.3:c.58G>C, XM_005254700.2:c.58G>C, XM_005254700.1:c.58G>C, XM_011522095.3:c.58G>C, XM_011522095.2:c.58G>C, XM_011522095.1:c.58G>C, XM_017022638.2:c.58G>C, XM_017022638.1:c.58G>C, XM_047433148.1:c.58G>C, XM_047433147.1:c.58G>C, NP_079516.1:p.Ala20Pro, NP_001019907.1:p.Ala20Pro, NP_001316557.1:p.Ala20Pro, XP_005254757.1:p.Ala20Pro, XP_011520397.1:p.Ala20Pro, XP_016878127.1:p.Ala20Pro, XP_047289104.1:p.Ala20Pro, XP_047289103.1:p.Ala20Pro

Select item 146839497919.

rs1468394979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:73702390 (GRCh38)
15:73994731 (GRCh37)
Canonical SPDI:: NC_000015.10:73702389:C:A
Gene:: CD276 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.73702390C>A, NC_000015.9:g.73994731C>A, NG_051242.1:g.23425C>A, NM_025240.3:c.215C>A, NM_025240.2:c.215C>A, NM_001024736.2:c.215C>A, NM_001024736.1:c.215C>A, NM_001329629.2:c.-224C>A, NM_001329629.1:c.-224C>A, NM_001329628.2:c.215C>A, NM_001329628.1:c.215C>A, XM_005254700.5:c.215C>A, XM_005254700.4:c.215C>A, XM_005254700.3:c.215C>A, XM_005254700.2:c.215C>A, XM_005254700.1:c.215C>A, XM_011522095.3:c.215C>A, XM_011522095.2:c.215C>A, XM_011522095.1:c.215C>A, XM_017022638.2:c.215C>A, XM_017022638.1:c.215C>A, XM_047433148.1:c.215C>A, XM_047433147.1:c.215C>A, NP_079516.1:p.Thr72Asn, NP_001019907.1:p.Thr72Asn, NP_001316557.1:p.Thr72Asn, XP_005254757.1:p.Thr72Asn, XP_011520397.1:p.Thr72Asn, XP_016878127.1:p.Thr72Asn, XP_047289104.1:p.Thr72Asn, XP_047289103.1:p.Thr72Asn

Select item 146834805220.

rs1468348052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:73703074 (GRCh38)
15:73995415 (GRCh37)
Canonical SPDI:: NC_000015.10:73703073:A:G
Gene:: CD276 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000015.10:g.73703074A>G, NC_000015.9:g.73995415A>G, NG_051242.1:g.24109A>G, NM_001024736.2:c.721A>G, NM_001024736.1:c.721A>G, NM_001329629.2:c.283A>G, NM_001329629.1:c.283A>G, XM_005254700.5:c.721A>G, XM_005254700.4:c.721A>G, XM_005254700.3:c.721A>G, XM_005254700.2:c.721A>G, XM_005254700.1:c.721A>G, XM_011522095.3:c.721A>G, XM_011522095.2:c.721A>G, XM_011522095.1:c.721A>G, XM_017022638.2:c.721A>G, XM_017022638.1:c.721A>G, XM_047433148.1:c.721A>G, XM_047433147.1:c.721A>G, NP_001019907.1:p.Arg241Gly, NP_001316558.1:p.Arg95Gly, XP_005254757.1:p.Arg241Gly, XP_011520397.1:p.Arg241Gly, XP_016878127.1:p.Arg241Gly, XP_047289104.1:p.Arg241Gly, XP_047289103.1:p.Arg241Gly

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Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 682

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