SNP Links for Protein (Select 161333835) - SNP

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:157556114 (GRCh38)
2:158412626 (GRCh37)
Canonical SPDI:: NC_000002.12:157556113:T:G
Gene:: ACVR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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=0.000008/2 (TOPMED)
G=0.004367/8 (Korea1K)
HGVS:: NC_000002.12:g.157556114T>G, NC_000002.11:g.158412626T>G, NM_145259.3:c.523A>C, NM_145259.2:c.523A>C, NM_001111031.2:c.373A>C, NM_001111031.1:c.373A>C, NP_660302.2:p.Thr175Pro, NP_001104501.1:p.Thr125Pro

Select item 145895735815.

rs1458957358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:157556165 (GRCh38)
2:158412677 (GRCh37)
Canonical SPDI:: NC_000002.12:157556164:A:G
Gene:: ACVR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.157556165A>G, NC_000002.11:g.158412677A>G, NM_145259.3:c.472T>C, NM_145259.2:c.472T>C, NM_001111031.2:c.322T>C, NM_001111031.1:c.322T>C, NP_660302.2:p.Cys158Arg, NP_001104501.1:p.Cys108Arg

Select item 145867985116.

rs1458679851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:157542785 (GRCh38)
2:158399297 (GRCh37)
Canonical SPDI:: NC_000002.12:157542784:C:T
Gene:: ACVR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.157542785C>T, NC_000002.11:g.158399297C>T, NM_145259.3:c.1021G>A, NM_145259.2:c.1021G>A, NM_001111031.2:c.871G>A, NM_001111031.1:c.871G>A, NM_001111032.2:c.781G>A, NM_001111032.1:c.781G>A, NM_001111033.2:c.550G>A, NM_001111033.1:c.550G>A, NP_660302.2:p.Asp341Asn, NP_001104501.1:p.Asp291Asn, NP_001104502.1:p.Asp261Asn, NP_001104503.1:p.Asp184Asn

Select item 145589719417.

rs1455897194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:157541105 (GRCh38)
2:158397617 (GRCh37)
Canonical SPDI:: NC_000002.12:157541104:T:C
Gene:: ACVR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157541105T>C, NC_000002.11:g.158397617T>C, NM_145259.3:c.1210A>G, NM_145259.2:c.1210A>G, NM_001111031.2:c.1060A>G, NM_001111031.1:c.1060A>G, NM_001111032.2:c.970A>G, NM_001111032.1:c.970A>G, NM_001111033.2:c.739A>G, NM_001111033.1:c.739A>G, NP_660302.2:p.Arg404Gly, NP_001104501.1:p.Arg354Gly, NP_001104502.1:p.Arg324Gly, NP_001104503.1:p.Arg247Gly

Select item 144716699818.

rs1447166998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:157550207 (GRCh38)
2:158406719 (GRCh37)
Canonical SPDI:: NC_000002.12:157550206:G:A
Gene:: ACVR1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157550207G>A, NC_000002.11:g.158406719G>A, NM_145259.3:c.730C>T, NM_145259.2:c.730C>T, NM_001111031.2:c.580C>T, NM_001111031.1:c.580C>T, NM_001111032.2:c.490C>T, NM_001111032.1:c.490C>T

Select item 144354994319.

rs1443549943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:157550252 (GRCh38)
2:158406764 (GRCh37)
Canonical SPDI:: NC_000002.12:157550251:C:T
Gene:: ACVR1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157550252C>T, NC_000002.11:g.158406764C>T, NM_145259.3:c.685G>A, NM_145259.2:c.685G>A, NM_001111031.2:c.535G>A, NM_001111031.1:c.535G>A, NM_001111032.2:c.445G>A, NM_001111032.1:c.445G>A, NP_660302.2:p.Glu229Lys, NP_001104501.1:p.Glu179Lys, NP_001104502.1:p.Glu149Lys

Select item 144215016820.

rs1442150168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:157550184 (GRCh38)
2:158406696 (GRCh37)
Canonical SPDI:: NC_000002.12:157550183:A:G
Gene:: ACVR1C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.157550184A>G, NC_000002.11:g.158406696A>G, NM_145259.3:c.753T>C, NM_145259.2:c.753T>C, NM_001111031.2:c.603T>C, NM_001111031.1:c.603T>C, NM_001111032.2:c.513T>C, NM_001111032.1:c.513T>C

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