SNP Links for Protein (Select 1034579110) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56257405 (GRCh38)
12:56651189 (GRCh37)
Canonical SPDI:: NC_000012.12:56257404:G:A
Gene:: ANKRD52 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56257405G>A, NC_000012.11:g.56651189G>A, XM_017019183.2:c.65C>T, XM_017019183.1:c.65C>T, XP_016874672.1:p.Pro22Leu

Select item 14871395916.

rs1487139591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56255846 (GRCh38)
12:56649630 (GRCh37)
Canonical SPDI:: NC_000012.12:56255845:T:C
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.56255846T>C, NC_000012.11:g.56649630T>C, NM_173595.4:c.400A>G, NM_173595.3:c.400A>G, XM_011538197.3:c.217A>G, XM_011538197.2:c.217A>G, XM_011538197.1:c.217A>G, XM_017019183.2:c.397A>G, XM_017019183.1:c.397A>G, NP_775866.2:p.Asn134Asp, XP_011536499.1:p.Asn73Asp, XP_016874672.1:p.Asn133Asp

Select item 14863723267.

rs1486372326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56245435 (GRCh38)
12:56639219 (GRCh37)
Canonical SPDI:: NC_000012.12:56245434:G:A
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56245435G>A, NC_000012.11:g.56639219G>A, NM_173595.4:c.2346C>T, NM_173595.3:c.2346C>T, XM_011538197.3:c.2163C>T, XM_011538197.2:c.2163C>T, XM_011538197.1:c.2163C>T, XM_017019183.2:c.2343C>T, XM_017019183.1:c.2343C>T

Select item 14860535618.

rs1486053561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56247520 (GRCh38)
12:56641304 (GRCh37)
Canonical SPDI:: NC_000012.12:56247519:G:A
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.56247520G>A, NC_000012.11:g.56641304G>A, NM_173595.4:c.2157C>T, NM_173595.3:c.2157C>T, XM_011538197.3:c.1974C>T, XM_011538197.2:c.1974C>T, XM_011538197.1:c.1974C>T, XM_017019183.2:c.2154C>T, XM_017019183.1:c.2154C>T

Select item 14859329909.

rs1485932990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56257368 (GRCh38)
12:56651152 (GRCh37)
Canonical SPDI:: NC_000012.12:56257367:A:G
Gene:: ANKRD52 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56257368A>G, NC_000012.11:g.56651152A>G, XM_017019183.2:c.102T>C, XM_017019183.1:c.102T>C

Select item 148469044310.

rs1484690443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56247596 (GRCh38)
12:56641380 (GRCh37)
Canonical SPDI:: NC_000012.12:56247595:A:G
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56247596A>G, NC_000012.11:g.56641380A>G, NM_173595.4:c.2081T>C, NM_173595.3:c.2081T>C, XM_011538197.3:c.1898T>C, XM_011538197.2:c.1898T>C, XM_011538197.1:c.1898T>C, XM_017019183.2:c.2078T>C, XM_017019183.1:c.2078T>C, NP_775866.2:p.Leu694Pro, XP_011536499.1:p.Leu633Pro, XP_016874672.1:p.Leu693Pro

Select item 148411566711.

rs1484115667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56253080 (GRCh38)
12:56646864 (GRCh37)
Canonical SPDI:: NC_000012.12:56253079:G:T
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.56253080G>T, NC_000012.11:g.56646864G>T, NM_173595.4:c.1107C>A, NM_173595.3:c.1107C>A, XM_011538197.3:c.924C>A, XM_011538197.2:c.924C>A, XM_011538197.1:c.924C>A, XM_017019183.2:c.1104C>A, XM_017019183.1:c.1104C>A

Select item 148235133012.

rs1482351330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56248864 (GRCh38)
12:56642648 (GRCh37)
Canonical SPDI:: NC_000012.12:56248863:C:T
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.56248864C>T, NC_000012.11:g.56642648C>T, NM_173595.4:c.1599G>A, NM_173595.3:c.1599G>A, XM_011538197.3:c.1416G>A, XM_011538197.2:c.1416G>A, XM_011538197.1:c.1416G>A, XM_017019183.2:c.1596G>A, XM_017019183.1:c.1596G>A

Select item 148127051013.

rs1481270510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:56254694 (GRCh38)
12:56648478 (GRCh37)
Canonical SPDI:: NC_000012.12:56254693:C:A,NC_000012.12:56254693:C:T
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56254694C>A, NC_000012.12:g.56254694C>T, NC_000012.11:g.56648478C>A, NC_000012.11:g.56648478C>T, NM_173595.4:c.577G>T, NM_173595.4:c.577G>A, NM_173595.3:c.577G>T, NM_173595.3:c.577G>A, XM_011538197.3:c.394G>T, XM_011538197.3:c.394G>A, XM_011538197.2:c.394G>T, XM_011538197.2:c.394G>A, XM_011538197.1:c.394G>T, XM_011538197.1:c.394G>A, XM_017019183.2:c.574G>T, XM_017019183.2:c.574G>A, XM_017019183.1:c.574G>T, XM_017019183.1:c.574G>A, NP_775866.2:p.Val193Leu, NP_775866.2:p.Val193Met, XP_011536499.1:p.Val132Leu, XP_011536499.1:p.Val132Met, XP_016874672.1:p.Val192Leu, XP_016874672.1:p.Val192Met

Select item 148116838714.

rs1481168387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:56257385 (GRCh38)
12:56651169 (GRCh37)
Canonical SPDI:: NC_000012.12:56257384:G:A,NC_000012.12:56257384:G:C
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56257385G>A, NC_000012.12:g.56257385G>C, NC_000012.11:g.56651169G>A, NC_000012.11:g.56651169G>C, XM_017019183.2:c.85C>T, XM_017019183.2:c.85C>G, XM_017019183.1:c.85C>T, XM_017019183.1:c.85C>G, XP_016874672.1:p.Pro29Ser, XP_016874672.1:p.Pro29Ala

Select item 148080896715.

rs1480808967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56254941 (GRCh38)
12:56648725 (GRCh37)
Canonical SPDI:: NC_000012.12:56254940:C:T
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56254941C>T, NC_000012.11:g.56648725C>T, NM_173595.4:c.474G>A, NM_173595.3:c.474G>A, XM_011538197.3:c.291G>A, XM_011538197.2:c.291G>A, XM_011538197.1:c.291G>A, XM_017019183.2:c.471G>A, XM_017019183.1:c.471G>A

Select item 148033835816.

rs1480338358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56252567 (GRCh38)
12:56646351 (GRCh37)
Canonical SPDI:: NC_000012.12:56252566:A:G
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56252567A>G, NC_000012.11:g.56646351A>G, NM_173595.4:c.1305T>C, NM_173595.3:c.1305T>C, XM_011538197.3:c.1122T>C, XM_011538197.2:c.1122T>C, XM_011538197.1:c.1122T>C, XM_017019183.2:c.1302T>C, XM_017019183.1:c.1302T>C

Select item 147841603117.

rs1478416031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:56245455 (GRCh38)
12:56639239 (GRCh37)
Canonical SPDI:: NC_000012.12:56245454:C:A
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56245455C>A, NC_000012.11:g.56639239C>A, NM_173595.4:c.2326G>T, NM_173595.3:c.2326G>T, XM_011538197.3:c.2143G>T, XM_011538197.2:c.2143G>T, XM_011538197.1:c.2143G>T, XM_017019183.2:c.2323G>T, XM_017019183.1:c.2323G>T, NP_775866.2:p.Ala776Ser, XP_011536499.1:p.Ala715Ser, XP_016874672.1:p.Ala775Ser

Select item 147669736718.

rs1476697367 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:56257372 (GRCh38)
12:56651156 (GRCh37)
Canonical SPDI:: NC_000012.12:56257371:AAAAAA:AAAAA
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56257377del, NC_000012.11:g.56651161del, XM_017019183.2:c.98del, XM_017019183.1:c.98del, XP_016874672.1:p.Leu33fs

Select item 147640698919.

rs1476406989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56247736 (GRCh38)
12:56641520 (GRCh37)
Canonical SPDI:: NC_000012.12:56247735:C:T
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56247736C>T, NC_000012.11:g.56641520C>T, NM_173595.4:c.2017G>A, NM_173595.3:c.2017G>A, XM_011538197.3:c.1834G>A, XM_011538197.2:c.1834G>A, XM_011538197.1:c.1834G>A, XM_017019183.2:c.2014G>A, XM_017019183.1:c.2014G>A, NP_775866.2:p.Asp673Asn, XP_011536499.1:p.Asp612Asn, XP_016874672.1:p.Asp672Asn

Select item 147417344720.

rs1474173447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56247532 (GRCh38)
12:56641316 (GRCh37)
Canonical SPDI:: NC_000012.12:56247531:A:G
Gene:: ANKRD52 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56247532A>G, NC_000012.11:g.56641316A>G, NM_173595.4:c.2145T>C, NM_173595.3:c.2145T>C, XM_011538197.3:c.1962T>C, XM_011538197.2:c.1962T>C, XM_011538197.1:c.1962T>C, XM_017019183.2:c.2142T>C, XM_017019183.1:c.2142T>C

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