SNP Links for Protein (Select 510937004) - SNP

Select item 14908503081.

rs1490850308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164695209 (GRCh38)
2:165551719 (GRCh37)
Canonical SPDI:: NC_000002.12:164695208:T:C
Gene:: COBLL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.164695209T>C, NC_000002.11:g.165551719T>C, NM_014900.5:c.2297A>G, NM_014900.4:c.2297A>G, NM_001278458.2:c.2498A>G, NM_001278458.1:c.2498A>G, NM_001278461.2:c.2183A>G, NM_001278461.1:c.2183A>G, NM_001365674.2:c.2222A>G, NM_001365674.1:c.2222A>G, NM_001365675.2:c.2222A>G, NM_001365675.1:c.2222A>G, NM_001278460.2:c.2321A>G, NM_001278460.1:c.2321A>G, NM_001365670.2:c.2318A>G, NM_001365670.1:c.2318A>G, NM_001365672.2:c.2183A>G, NM_001365672.1:c.2183A>G, NM_001365673.2:c.2183A>G, NM_001365673.1:c.2183A>G, NM_001365671.1:c.2360A>G, NP_055715.3:p.Lys766Arg, NP_001265387.1:p.Lys833Arg, NP_001265390.1:p.Lys728Arg, NP_001352603.1:p.Lys741Arg, NP_001352604.1:p.Lys741Arg, NP_001265389.1:p.Lys774Arg, NP_001352599.1:p.Lys773Arg, NP_001352601.1:p.Lys728Arg, NP_001352602.1:p.Lys728Arg, NP_001352600.1:p.Lys787Arg

Select item 14904364602.

rs1490436460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164695502 (GRCh38)
2:165552012 (GRCh37)
Canonical SPDI:: NC_000002.12:164695501:A:G
Gene:: COBLL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164695502A>G, NC_000002.11:g.165552012A>G, NM_014900.5:c.2004T>C, NM_014900.4:c.2004T>C, NM_001278458.2:c.2205T>C, NM_001278458.1:c.2205T>C, NM_001278461.2:c.1890T>C, NM_001278461.1:c.1890T>C, NM_001365674.2:c.1929T>C, NM_001365674.1:c.1929T>C, NM_001365675.2:c.1929T>C, NM_001365675.1:c.1929T>C, NM_001278460.2:c.2028T>C, NM_001278460.1:c.2028T>C, NM_001365670.2:c.2025T>C, NM_001365670.1:c.2025T>C, NM_001365672.2:c.1890T>C, NM_001365672.1:c.1890T>C, NM_001365673.2:c.1890T>C, NM_001365673.1:c.1890T>C, NM_001365671.1:c.2067T>C

Select item 14883478403.

rs1488347840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:164743875 (GRCh38)
2:165600385 (GRCh37)
Canonical SPDI:: NC_000002.12:164743874:C:T
Gene:: COBLL1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.164743875C>T, NC_000002.11:g.165600385C>T, NM_014900.5:c.42G>A, NM_014900.4:c.42G>A, NM_001278458.2:c.201G>A, NM_001278458.1:c.201G>A, NM_001278461.2:c.42G>A, NM_001278461.1:c.42G>A, NM_001365674.2:c.42G>A, NM_001365674.1:c.42G>A, NM_001365675.2:c.42G>A, NM_001365675.1:c.42G>A, NM_001278460.2:c.180G>A, NM_001278460.1:c.180G>A, NM_001365670.2:c.180G>A, NM_001365670.1:c.180G>A, NM_001365672.2:c.42G>A, NM_001365672.1:c.42G>A, NM_001365673.2:c.42G>A, NM_001365673.1:c.42G>A, NM_001365671.1:c.180G>A, NP_001265387.1:p.Trp67Ter

Select item 14871511104.

rs1487151110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:164695243 (GRCh38)
2:165551753 (GRCh37)
Canonical SPDI:: NC_000002.12:164695242:G:A,NC_000002.12:164695242:G:T
Gene:: COBLL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.164695243G>A, NC_000002.12:g.164695243G>T, NC_000002.11:g.165551753G>A, NC_000002.11:g.165551753G>T, NM_014900.5:c.2263C>T, NM_014900.5:c.2263C>A, NM_014900.4:c.2263C>T, NM_014900.4:c.2263C>A, NM_001278458.2:c.2464C>T, NM_001278458.2:c.2464C>A, NM_001278458.1:c.2464C>T, NM_001278458.1:c.2464C>A, NM_001278461.2:c.2149C>T, NM_001278461.2:c.2149C>A, NM_001278461.1:c.2149C>T, NM_001278461.1:c.2149C>A, NM_001365674.2:c.2188C>T, NM_001365674.2:c.2188C>A, NM_001365674.1:c.2188C>T, NM_001365674.1:c.2188C>A, NM_001365675.2:c.2188C>T, NM_001365675.2:c.2188C>A, NM_001365675.1:c.2188C>T, NM_001365675.1:c.2188C>A, NM_001278460.2:c.2287C>T, NM_001278460.2:c.2287C>A, NM_001278460.1:c.2287C>T, NM_001278460.1:c.2287C>A, NM_001365670.2:c.2284C>T, NM_001365670.2:c.2284C>A, NM_001365670.1:c.2284C>T, NM_001365670.1:c.2284C>A, NM_001365672.2:c.2149C>T, NM_001365672.2:c.2149C>A, NM_001365672.1:c.2149C>T, NM_001365672.1:c.2149C>A, NM_001365673.2:c.2149C>T, NM_001365673.2:c.2149C>A, NM_001365673.1:c.2149C>T, NM_001365673.1:c.2149C>A, NM_001365671.1:c.2326C>T, NM_001365671.1:c.2326C>A, NP_055715.3:p.Pro755Ser, NP_055715.3:p.Pro755Thr, NP_001265387.1:p.Pro822Ser, NP_001265387.1:p.Pro822Thr, NP_001265390.1:p.Pro717Ser, NP_001265390.1:p.Pro717Thr, NP_001352603.1:p.Pro730Ser, NP_001352603.1:p.Pro730Thr, NP_001352604.1:p.Pro730Ser, NP_001352604.1:p.Pro730Thr, NP_001265389.1:p.Pro763Ser, NP_001265389.1:p.Pro763Thr, NP_001352599.1:p.Pro762Ser, NP_001352599.1:p.Pro762Thr, NP_001352601.1:p.Pro717Ser, NP_001352601.1:p.Pro717Thr, NP_001352602.1:p.Pro717Ser, NP_001352602.1:p.Pro717Thr, NP_001352600.1:p.Pro776Ser, NP_001352600.1:p.Pro776Thr

Select item 14860256195.

rs1486025619 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:164730080 (GRCh38)
2:165586591 (GRCh37)
Canonical SPDI:: NC_000002.12:164730080:C:CC
Gene:: COBLL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.00001/1 (ALFA)
HGVS:: NC_000002.12:g.164730081dup, NC_000002.11:g.165586591dup, NM_014900.5:c.265dup, NM_014900.4:c.265dup, NM_001278458.2:c.424dup, NM_001278458.1:c.424dup, NM_001278461.2:c.265dup, NM_001278461.1:c.265dup, NM_001365674.2:c.265dup, NM_001365674.1:c.265dup, NM_001365675.2:c.265dup, NM_001365675.1:c.265dup, NM_001278460.2:c.403dup, NM_001278460.1:c.403dup, NM_001365670.2:c.403dup, NM_001365670.1:c.403dup, NM_001365672.2:c.265dup, NM_001365672.1:c.265dup, NM_001365673.2:c.265dup, NM_001365673.1:c.265dup, NM_001365671.1:c.403dup, NP_055715.3:p.Ala89fs, NP_001265387.1:p.Ala142fs, NP_001265390.1:p.Ala89fs, NP_001352603.1:p.Ala89fs, NP_001352604.1:p.Ala89fs, NP_001265389.1:p.Ala135fs, NP_001352599.1:p.Ala135fs, NP_001352601.1:p.Ala89fs, NP_001352602.1:p.Ala89fs, NP_001352600.1:p.Ala135fs

Select item 14860014476.

rs1486001447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:164841219 (GRCh38)
2:165697729 (GRCh37)
Canonical SPDI:: NC_000002.12:164841218:G:T
Gene:: COBLL1 (Varview), LOC101929633 (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.164841219G>T, NC_000002.11:g.165697729G>T, NM_014900.5:c.-23C>A, NM_014900.4:c.-23C>A, NM_001278458.2:c.116C>A, NM_001278458.1:c.116C>A, NM_001278461.2:c.-23C>A, NM_001278461.1:c.-23C>A, NM_001365674.2:c.-23C>A, NM_001365674.1:c.-23C>A, NM_001365675.2:c.-23C>A, NM_001365675.1:c.-23C>A, NM_001278460.2:c.116C>A, NM_001278460.1:c.116C>A, NM_001365670.2:c.116C>A, NM_001365670.1:c.116C>A, NM_001365672.2:c.-23C>A, NM_001365672.1:c.-23C>A, NM_001365673.2:c.-23C>A, NM_001365673.1:c.-23C>A, NM_001365671.1:c.116C>A, NP_001265387.1:p.Ala39Asp, NP_001265389.1:p.Ala39Asp, NP_001352599.1:p.Ala39Asp, NP_001352600.1:p.Ala39Asp

Select item 14852097257.

rs1485209725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:164728009 (GRCh38)
2:165584519 (GRCh37)
Canonical SPDI:: NC_000002.12:164728008:G:A
Gene:: COBLL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.164728009G>A, NC_000002.11:g.165584519G>A, NM_014900.5:c.621C>T, NM_014900.4:c.621C>T, NM_001278458.2:c.780C>T, NM_001278458.1:c.780C>T, NM_001278461.2:c.621C>T, NM_001278461.1:c.621C>T, NM_001365674.2:c.621C>T, NM_001365674.1:c.621C>T, NM_001365675.2:c.621C>T, NM_001365675.1:c.621C>T, NM_001278460.2:c.759C>T, NM_001278460.1:c.759C>T, NM_001365670.2:c.759C>T, NM_001365670.1:c.759C>T, NM_001365672.2:c.621C>T, NM_001365672.1:c.621C>T, NM_001365673.2:c.621C>T, NM_001365673.1:c.621C>T, NM_001365671.1:c.759C>T

Select item 14846651088.

rs1484665108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:164729990 (GRCh38)
2:165586500 (GRCh37)
Canonical SPDI:: NC_000002.12:164729989:C:T
Gene:: COBLL1 (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)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.164729990C>T, NC_000002.11:g.165586500C>T, NM_014900.5:c.356G>A, NM_014900.4:c.356G>A, NM_001278458.2:c.515G>A, NM_001278458.1:c.515G>A, NM_001278461.2:c.356G>A, NM_001278461.1:c.356G>A, NM_001365674.2:c.356G>A, NM_001365674.1:c.356G>A, NM_001365675.2:c.356G>A, NM_001365675.1:c.356G>A, NM_001278460.2:c.494G>A, NM_001278460.1:c.494G>A, NM_001365670.2:c.494G>A, NM_001365670.1:c.494G>A, NM_001365672.2:c.356G>A, NM_001365672.1:c.356G>A, NM_001365673.2:c.356G>A, NM_001365673.1:c.356G>A, NM_001365671.1:c.494G>A, NP_055715.3:p.Gly119Glu, NP_001265387.1:p.Gly172Glu, NP_001265390.1:p.Gly119Glu, NP_001352603.1:p.Gly119Glu, NP_001352604.1:p.Gly119Glu, NP_001265389.1:p.Gly165Glu, NP_001352599.1:p.Gly165Glu, NP_001352601.1:p.Gly119Glu, NP_001352602.1:p.Gly119Glu, NP_001352600.1:p.Gly165Glu

Select item 14833453529.

rs1483345352 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:164841982 (GRCh38)
2:165698492 (GRCh37)
Canonical SPDI:: NC_000002.12:164841981:CC:C
Gene:: COBLL1 (Varview), LOC101929633 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000015/2 (GnomAD_exomes)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.164841983del, NC_000002.11:g.165698493del, NM_001278458.2:c.63del, NM_001278458.1:c.63del, NM_001278460.2:c.63del, NM_001278460.1:c.63del, NM_001365670.2:c.63del, NM_001365670.1:c.63del, NM_001365671.1:c.63del, NP_001265387.1:p.Thr22fs, NP_001265389.1:p.Thr22fs, NP_001352599.1:p.Thr22fs, NP_001352600.1:p.Thr22fs

Select item 148269641310.

rs1482696413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:164695762 (GRCh38)
2:165552272 (GRCh37)
Canonical SPDI:: NC_000002.12:164695761:T:G
Gene:: COBLL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.164695762T>G, NC_000002.11:g.165552272T>G, NM_014900.5:c.1744A>C, NM_014900.4:c.1744A>C, NM_001278458.2:c.1945A>C, NM_001278458.1:c.1945A>C, NM_001278461.2:c.1630A>C, NM_001278461.1:c.1630A>C, NM_001365674.2:c.1669A>C, NM_001365674.1:c.1669A>C, NM_001365675.2:c.1669A>C, NM_001365675.1:c.1669A>C, NM_001278460.2:c.1768A>C, NM_001278460.1:c.1768A>C, NM_001365670.2:c.1765A>C, NM_001365670.1:c.1765A>C, NM_001365672.2:c.1630A>C, NM_001365672.1:c.1630A>C, NM_001365673.2:c.1630A>C, NM_001365673.1:c.1630A>C, NM_001365671.1:c.1807A>C, NP_055715.3:p.Ile582Leu, NP_001265387.1:p.Ile649Leu, NP_001265390.1:p.Ile544Leu, NP_001352603.1:p.Ile557Leu, NP_001352604.1:p.Ile557Leu, NP_001265389.1:p.Ile590Leu, NP_001352599.1:p.Ile589Leu, NP_001352601.1:p.Ile544Leu, NP_001352602.1:p.Ile544Leu, NP_001352600.1:p.Ile603Leu

Select item 148142156311.

rs1481421563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:164694624 (GRCh38)
2:165551134 (GRCh37)
Canonical SPDI:: NC_000002.12:164694623:G:A
Gene:: COBLL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164694624G>A, NC_000002.11:g.165551134G>A, NM_014900.5:c.2882C>T, NM_014900.4:c.2882C>T, NM_001278458.2:c.3083C>T, NM_001278458.1:c.3083C>T, NM_001278461.2:c.2768C>T, NM_001278461.1:c.2768C>T, NM_001365674.2:c.2807C>T, NM_001365674.1:c.2807C>T, NM_001365675.2:c.2807C>T, NM_001365675.1:c.2807C>T, NM_001278460.2:c.2906C>T, NM_001278460.1:c.2906C>T, NM_001365670.2:c.2903C>T, NM_001365670.1:c.2903C>T, NM_001365672.2:c.2768C>T, NM_001365672.1:c.2768C>T, NM_001365673.2:c.2768C>T, NM_001365673.1:c.2768C>T, NM_001365671.1:c.2945C>T, NP_055715.3:p.Pro961Leu, NP_001265387.1:p.Pro1028Leu, NP_001265390.1:p.Pro923Leu, NP_001352603.1:p.Pro936Leu, NP_001352604.1:p.Pro936Leu, NP_001265389.1:p.Pro969Leu, NP_001352599.1:p.Pro968Leu, NP_001352601.1:p.Pro923Leu, NP_001352602.1:p.Pro923Leu, NP_001352600.1:p.Pro982Leu

Select item 147752792512.

rs1477527925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164730004 (GRCh38)
2:165586514 (GRCh37)
Canonical SPDI:: NC_000002.12:164730003:T:C
Gene:: COBLL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164730004T>C, NC_000002.11:g.165586514T>C, NM_014900.5:c.342A>G, NM_014900.4:c.342A>G, NM_001278458.2:c.501A>G, NM_001278458.1:c.501A>G, NM_001278461.2:c.342A>G, NM_001278461.1:c.342A>G, NM_001365674.2:c.342A>G, NM_001365674.1:c.342A>G, NM_001365675.2:c.342A>G, NM_001365675.1:c.342A>G, NM_001278460.2:c.480A>G, NM_001278460.1:c.480A>G, NM_001365670.2:c.480A>G, NM_001365670.1:c.480A>G, NM_001365672.2:c.342A>G, NM_001365672.1:c.342A>G, NM_001365673.2:c.342A>G, NM_001365673.1:c.342A>G, NM_001365671.1:c.480A>G

Select item 147523547813.

rs1475235478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:164728020 (GRCh38)
2:165584530 (GRCh37)
Canonical SPDI:: NC_000002.12:164728019:A:T
Gene:: COBLL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164728020A>T, NC_000002.11:g.165584530A>T, NM_014900.5:c.610T>A, NM_014900.4:c.610T>A, NM_001278458.2:c.769T>A, NM_001278458.1:c.769T>A, NM_001278461.2:c.610T>A, NM_001278461.1:c.610T>A, NM_001365674.2:c.610T>A, NM_001365674.1:c.610T>A, NM_001365675.2:c.610T>A, NM_001365675.1:c.610T>A, NM_001278460.2:c.748T>A, NM_001278460.1:c.748T>A, NM_001365670.2:c.748T>A, NM_001365670.1:c.748T>A, NM_001365672.2:c.610T>A, NM_001365672.1:c.610T>A, NM_001365673.2:c.610T>A, NM_001365673.1:c.610T>A, NM_001365671.1:c.748T>A, NP_055715.3:p.Ser204Thr, NP_001265387.1:p.Ser257Thr, NP_001265390.1:p.Ser204Thr, NP_001352603.1:p.Ser204Thr, NP_001352604.1:p.Ser204Thr, NP_001265389.1:p.Ser250Thr, NP_001352599.1:p.Ser250Thr, NP_001352601.1:p.Ser204Thr, NP_001352602.1:p.Ser204Thr, NP_001352600.1:p.Ser250Thr

Select item 147461093214.

rs1474610932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:164705067 (GRCh38)
2:165561577 (GRCh37)
Canonical SPDI:: NC_000002.12:164705066:C:T
Gene:: COBLL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.164705067C>T, NC_000002.11:g.165561577C>T, NM_014900.5:c.1035G>A, NM_014900.4:c.1035G>A, NM_001278458.2:c.1233G>A, NM_001278458.1:c.1233G>A, NM_001278461.2:c.1035G>A, NM_001278461.1:c.1035G>A, NM_001365674.2:c.1074G>A, NM_001365674.1:c.1074G>A, NM_001365675.2:c.1074G>A, NM_001365675.1:c.1074G>A, NM_001278460.2:c.1173G>A, NM_001278460.1:c.1173G>A, NM_001365670.2:c.1173G>A, NM_001365670.1:c.1173G>A, NM_001365672.2:c.1035G>A, NM_001365672.1:c.1035G>A, NM_001365673.2:c.1035G>A, NM_001365673.1:c.1035G>A, NM_001365671.1:c.1212G>A

Select item 147449283115.

rs1474492831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:164694779 (GRCh38)
2:165551289 (GRCh37)
Canonical SPDI:: NC_000002.12:164694778:C:A,NC_000002.12:164694778:C:T
Gene:: COBLL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.164694779C>A, NC_000002.12:g.164694779C>T, NC_000002.11:g.165551289C>A, NC_000002.11:g.165551289C>T, NM_014900.5:c.2727G>T, NM_014900.5:c.2727G>A, NM_014900.4:c.2727G>T, NM_014900.4:c.2727G>A, NM_001278458.2:c.2928G>T, NM_001278458.2:c.2928G>A, NM_001278458.1:c.2928G>T, NM_001278458.1:c.2928G>A, NM_001278461.2:c.2613G>T, NM_001278461.2:c.2613G>A, NM_001278461.1:c.2613G>T, NM_001278461.1:c.2613G>A, NM_001365674.2:c.2652G>T, NM_001365674.2:c.2652G>A, NM_001365674.1:c.2652G>T, NM_001365674.1:c.2652G>A, NM_001365675.2:c.2652G>T, NM_001365675.2:c.2652G>A, NM_001365675.1:c.2652G>T, NM_001365675.1:c.2652G>A, NM_001278460.2:c.2751G>T, NM_001278460.2:c.2751G>A, NM_001278460.1:c.2751G>T, NM_001278460.1:c.2751G>A, NM_001365670.2:c.2748G>T, NM_001365670.2:c.2748G>A, NM_001365670.1:c.2748G>T, NM_001365670.1:c.2748G>A, NM_001365672.2:c.2613G>T, NM_001365672.2:c.2613G>A, NM_001365672.1:c.2613G>T, NM_001365672.1:c.2613G>A, NM_001365673.2:c.2613G>T, NM_001365673.2:c.2613G>A, NM_001365673.1:c.2613G>T, NM_001365673.1:c.2613G>A, NM_001365671.1:c.2790G>T, NM_001365671.1:c.2790G>A, NP_055715.3:p.Met909Ile, NP_055715.3:p.Met909Ile, NP_001265387.1:p.Met976Ile, NP_001265387.1:p.Met976Ile, NP_001265390.1:p.Met871Ile, NP_001265390.1:p.Met871Ile, NP_001352603.1:p.Met884Ile, NP_001352603.1:p.Met884Ile, NP_001352604.1:p.Met884Ile, NP_001352604.1:p.Met884Ile, NP_001265389.1:p.Met917Ile, NP_001265389.1:p.Met917Ile, NP_001352599.1:p.Met916Ile, NP_001352599.1:p.Met916Ile, NP_001352601.1:p.Met871Ile, NP_001352601.1:p.Met871Ile, NP_001352602.1:p.Met871Ile, NP_001352602.1:p.Met871Ile, NP_001352600.1:p.Met930Ile, NP_001352600.1:p.Met930Ile

Select item 147385398116.

rs1473853981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:164692335 (GRCh38)
2:165548845 (GRCh37)
Canonical SPDI:: NC_000002.12:164692334:T:A,NC_000002.12:164692334:T:G
Gene:: COBLL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164692335T>A, NC_000002.12:g.164692335T>G, NC_000002.11:g.165548845T>A, NC_000002.11:g.165548845T>G, NM_014900.5:c.3300A>T, NM_014900.5:c.3300A>C, NM_014900.4:c.3300A>T, NM_014900.4:c.3300A>C, NM_001278458.2:c.3501A>T, NM_001278458.2:c.3501A>C, NM_001278458.1:c.3501A>T, NM_001278458.1:c.3501A>C, NM_001278461.2:c.3186A>T, NM_001278461.2:c.3186A>C, NM_001278461.1:c.3186A>T, NM_001278461.1:c.3186A>C, NM_001365674.2:c.3225A>T, NM_001365674.2:c.3225A>C, NM_001365674.1:c.3225A>T, NM_001365674.1:c.3225A>C, NM_001365675.2:c.3225A>T, NM_001365675.2:c.3225A>C, NM_001365675.1:c.3225A>T, NM_001365675.1:c.3225A>C, NM_001278460.2:c.3324A>T, NM_001278460.2:c.3324A>C, NM_001278460.1:c.3324A>T, NM_001278460.1:c.3324A>C, NM_001365670.2:c.3321A>T, NM_001365670.2:c.3321A>C, NM_001365670.1:c.3321A>T, NM_001365670.1:c.3321A>C, NM_001365672.2:c.3186A>T, NM_001365672.2:c.3186A>C, NM_001365672.1:c.3186A>T, NM_001365672.1:c.3186A>C, NM_001365673.2:c.3186A>T, NM_001365673.2:c.3186A>C, NM_001365673.1:c.3186A>T, NM_001365673.1:c.3186A>C, NM_001365671.1:c.3363A>T, NM_001365671.1:c.3363A>C

Select item 147359536617.

rs1473595366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164704503 (GRCh38)
2:165561013 (GRCh37)
Canonical SPDI:: NC_000002.12:164704502:T:C
Gene:: COBLL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164704503T>C, NC_000002.11:g.165561013T>C, NM_014900.5:c.1166A>G, NM_014900.4:c.1166A>G, NM_001278458.2:c.1364A>G, NM_001278458.1:c.1364A>G, NM_001278461.2:c.1166A>G, NM_001278461.1:c.1166A>G, NM_001365674.2:c.1205A>G, NM_001365674.1:c.1205A>G, NM_001365675.2:c.1205A>G, NM_001365675.1:c.1205A>G, NM_001278460.2:c.1304A>G, NM_001278460.1:c.1304A>G, NM_001365670.2:c.1304A>G, NM_001365670.1:c.1304A>G, NM_001365672.2:c.1166A>G, NM_001365672.1:c.1166A>G, NM_001365673.2:c.1166A>G, NM_001365673.1:c.1166A>G, NM_001365671.1:c.1343A>G, NP_055715.3:p.Asp389Gly, NP_001265387.1:p.Asp455Gly, NP_001265390.1:p.Asp389Gly, NP_001352603.1:p.Asp402Gly, NP_001352604.1:p.Asp402Gly, NP_001265389.1:p.Asp435Gly, NP_001352599.1:p.Asp435Gly, NP_001352601.1:p.Asp389Gly, NP_001352602.1:p.Asp389Gly, NP_001352600.1:p.Asp448Gly

Select item 147353310518.

rs1473533105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164700527 (GRCh38)
2:165557037 (GRCh37)
Canonical SPDI:: NC_000002.12:164700526:A:G
Gene:: COBLL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.164700527A>G, NC_000002.11:g.165557037A>G, NM_014900.5:c.1572T>C, NM_014900.4:c.1572T>C, NM_001278458.2:c.1770T>C, NM_001278458.1:c.1770T>C, NM_001278461.2:c.1455T>C, NM_001278461.1:c.1455T>C, NM_001365674.2:c.1494T>C, NM_001365674.1:c.1494T>C, NM_001365675.2:c.1494T>C, NM_001365675.1:c.1494T>C, NM_001278460.2:c.1593T>C, NM_001278460.1:c.1593T>C, NM_001365670.2:c.1593T>C, NM_001365670.1:c.1593T>C, NM_001365672.2:c.1455T>C, NM_001365672.1:c.1455T>C, NM_001365673.2:c.1455T>C, NM_001365673.1:c.1455T>C, NM_001365671.1:c.1632T>C

Select item 147147506219.

rs1471475062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:164695730 (GRCh38)
2:165552240 (GRCh37)
Canonical SPDI:: NC_000002.12:164695729:G:A
Gene:: COBLL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.164695730G>A, NC_000002.11:g.165552240G>A, NM_014900.5:c.1776C>T, NM_014900.4:c.1776C>T, NM_001278458.2:c.1977C>T, NM_001278458.1:c.1977C>T, NM_001278461.2:c.1662C>T, NM_001278461.1:c.1662C>T, NM_001365674.2:c.1701C>T, NM_001365674.1:c.1701C>T, NM_001365675.2:c.1701C>T, NM_001365675.1:c.1701C>T, NM_001278460.2:c.1800C>T, NM_001278460.1:c.1800C>T, NM_001365670.2:c.1797C>T, NM_001365670.1:c.1797C>T, NM_001365672.2:c.1662C>T, NM_001365672.1:c.1662C>T, NM_001365673.2:c.1662C>T, NM_001365673.1:c.1662C>T, NM_001365671.1:c.1839C>T

Select item 147073910720.

rs1470739107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164694875 (GRCh38)
2:165551385 (GRCh37)
Canonical SPDI:: NC_000002.12:164694874:T:C
Gene:: COBLL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164694875T>C, NC_000002.11:g.165551385T>C, NM_014900.5:c.2631A>G, NM_014900.4:c.2631A>G, NM_001278458.2:c.2832A>G, NM_001278458.1:c.2832A>G, NM_001278461.2:c.2517A>G, NM_001278461.1:c.2517A>G, NM_001365674.2:c.2556A>G, NM_001365674.1:c.2556A>G, NM_001365675.2:c.2556A>G, NM_001365675.1:c.2556A>G, NM_001278460.2:c.2655A>G, NM_001278460.1:c.2655A>G, NM_001365670.2:c.2652A>G, NM_001365670.1:c.2652A>G, NM_001365672.2:c.2517A>G, NM_001365672.1:c.2517A>G, NM_001365673.2:c.2517A>G, NM_001365673.1:c.2517A>G, NM_001365671.1:c.2694A>G

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