SNP Links for Protein (Select 767974684) - SNP

Links from Protein

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Select item 14853193561.

rs1485319356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110731891 (GRCh38)
12:111169696 (GRCh37)
Canonical SPDI:: NC_000012.12:110731890:G:A
Gene:: PPP1CC (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.110731891G>A, NC_000012.11:g.111169696G>A, NG_030325.1:g.16088C>T, NM_002710.4:c.66C>T, NM_002710.3:c.66C>T, NM_001244974.2:c.66C>T, NM_001244974.1:c.66C>T, XM_011538504.4:c.66C>T, XM_011538504.3:c.66C>T, XM_011538504.2:c.66C>T, XM_011538504.1:c.66C>T, XM_011538505.4:c.66C>T, XM_011538505.3:c.66C>T, XM_011538505.2:c.66C>T, XM_011538505.1:c.66C>T, XR_007063094.1:n.250C>T

Select item 14845540042.

rs1484554004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110730749 (GRCh38)
12:111168554 (GRCh37)
Canonical SPDI:: NC_000012.12:110730748:A:G
Gene:: PPP1CC (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.110730749A>G, NC_000012.11:g.111168554A>G, NG_030325.1:g.17230T>C, NM_002710.4:c.198T>C, NM_002710.3:c.198T>C, NM_001244974.2:c.198T>C, NM_001244974.1:c.198T>C, XM_011538504.4:c.198T>C, XM_011538504.3:c.198T>C, XM_011538504.2:c.198T>C, XM_011538504.1:c.198T>C, XM_011538505.4:c.198T>C, XM_011538505.3:c.198T>C, XM_011538505.2:c.198T>C, XM_011538505.1:c.198T>C, XR_007063094.1:n.382T>C

Select item 14691911923.

rs1469191192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:110722214 (GRCh38)
12:111160019 (GRCh37)
Canonical SPDI:: NC_000012.12:110722213:G:C
Gene:: PPP1CC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110722214G>C, NC_000012.11:g.111160019G>C, NG_030325.1:g.25765C>G, NM_002710.4:c.803C>G, NM_002710.3:c.803C>G, NM_001244974.2:c.803C>G, NM_001244974.1:c.803C>G, XM_011538504.4:c.803C>G, XM_011538504.3:c.803C>G, XM_011538504.2:c.803C>G, XM_011538504.1:c.803C>G, XM_011538505.4:c.803C>G, XM_011538505.3:c.803C>G, XM_011538505.2:c.803C>G, XM_011538505.1:c.803C>G, XR_007063094.1:n.987C>G, NP_002701.1:p.Ser268Cys, NP_001231903.1:p.Ser268Cys, XP_011536806.1:p.Ser268Cys, XP_011536807.1:p.Ser268Cys

Select item 14656765494.

rs1465676549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110721132 (GRCh38)
12:111158937 (GRCh37)
Canonical SPDI:: NC_000012.12:110721131:C:T
Gene:: PPP1CC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.110721132C>T, NC_000012.11:g.111158937C>T, NG_030325.1:g.26847G>A, NM_002710.4:c.916G>A, NM_002710.3:c.916G>A, NM_001244974.2:c.916G>A, NM_001244974.1:c.916G>A, XM_011538504.4:c.916G>A, XM_011538504.3:c.916G>A, XM_011538504.2:c.916G>A, XM_011538504.1:c.916G>A, XM_011538505.4:c.916G>A, XM_011538505.3:c.916G>A, XM_011538505.2:c.916G>A, XM_011538505.1:c.916G>A, XR_007063094.1:n.1100G>A, NP_002701.1:p.Ala306Thr, NP_001231903.1:p.Ala306Thr, XP_011536806.1:p.Ala306Thr, XP_011536807.1:p.Ala306Thr

Select item 14640332885.

rs1464033288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:110709003 (GRCh38)
12:111146808 (GRCh37)
Canonical SPDI:: NC_000012.12:110709002:C:A
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_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_000012.12:g.110709003C>A, NC_000012.11:g.111146808C>A, XM_011538504.4:c.*32G>T, XM_011538504.3:c.*32G>T, XM_011538504.2:c.*32G>T, XM_011538505.4:c.975G>T, XM_011538505.3:c.975G>T, XM_011538505.2:c.975G>T, XM_011538505.1:c.975G>T, XR_007063094.1:n.1418G>T, XP_011536807.1:p.Met325Ile

Select item 14596722406.

rs1459672240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:110731800 (GRCh38)
12:111169605 (GRCh37)
Canonical SPDI:: NC_000012.12:110731799:G:T
Gene:: PPP1CC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110731800G>T, NC_000012.11:g.111169605G>T, NG_030325.1:g.16179C>A, NM_002710.4:c.157C>A, NM_002710.3:c.157C>A, NM_001244974.2:c.157C>A, NM_001244974.1:c.157C>A, XM_011538504.4:c.157C>A, XM_011538504.3:c.157C>A, XM_011538504.2:c.157C>A, XM_011538504.1:c.157C>A, XM_011538505.4:c.157C>A, XM_011538505.3:c.157C>A, XM_011538505.2:c.157C>A, XM_011538505.1:c.157C>A, XR_007063094.1:n.341C>A, NP_002701.1:p.Leu53Ile, NP_001231903.1:p.Leu53Ile, XP_011536806.1:p.Leu53Ile, XP_011536807.1:p.Leu53Ile

Select item 14580022997.

rs1458002299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110742683 (GRCh38)
12:111180488 (GRCh37)
Canonical SPDI:: NC_000012.12:110742682:T:C
Gene:: PPP1CC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.110742683T>C, NC_000012.11:g.111180488T>C, NG_030325.1:g.5296A>G, NM_002710.4:c.25A>G, NM_002710.3:c.25A>G, NM_001244974.2:c.25A>G, NM_001244974.1:c.25A>G, XM_011538504.4:c.25A>G, XM_011538504.3:c.25A>G, XM_011538504.2:c.25A>G, XM_011538504.1:c.25A>G, XM_011538505.4:c.25A>G, XM_011538505.3:c.25A>G, XM_011538505.2:c.25A>G, XM_011538505.1:c.25A>G, XR_007063094.1:n.209A>G, NP_002701.1:p.Ile9Val, NP_001231903.1:p.Ile9Val, XP_011536806.1:p.Ile9Val, XP_011536807.1:p.Ile9Val

Select item 14540184948.

rs1454018494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110722542 (GRCh38)
12:111160347 (GRCh37)
Canonical SPDI:: NC_000012.12:110722541:G:A
Gene:: PPP1CC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110722542G>A, NC_000012.11:g.111160347G>A, NG_030325.1:g.25437C>T, NM_002710.4:c.677C>T, NM_002710.3:c.677C>T, NM_001244974.2:c.677C>T, NM_001244974.1:c.677C>T, XM_011538504.4:c.677C>T, XM_011538504.3:c.677C>T, XM_011538504.2:c.677C>T, XM_011538504.1:c.677C>T, XM_011538505.4:c.677C>T, XM_011538505.3:c.677C>T, XM_011538505.2:c.677C>T, XM_011538505.1:c.677C>T, XR_007063094.1:n.861C>T, NP_002701.1:p.Thr226Ile, NP_001231903.1:p.Thr226Ile, XP_011536806.1:p.Thr226Ile, XP_011536807.1:p.Thr226Ile

Select item 14512747659.

rs1451274765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:110742695 (GRCh38)
12:111180500 (GRCh37)
Canonical SPDI:: NC_000012.12:110742694:C:G
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110742695C>G, NC_000012.11:g.111180500C>G, NG_030325.1:g.5284G>C, NM_002710.4:c.13G>C, NM_002710.3:c.13G>C, NM_001244974.2:c.13G>C, NM_001244974.1:c.13G>C, XM_011538504.4:c.13G>C, XM_011538504.3:c.13G>C, XM_011538504.2:c.13G>C, XM_011538504.1:c.13G>C, XM_011538505.4:c.13G>C, XM_011538505.3:c.13G>C, XM_011538505.2:c.13G>C, XM_011538505.1:c.13G>C, XR_007063094.1:n.197G>C, NP_002701.1:p.Asp5His, NP_001231903.1:p.Asp5His, XP_011536806.1:p.Asp5His, XP_011536807.1:p.Asp5His

Select item 145095379410.

rs1450953794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:110721163 (GRCh38)
12:111158968 (GRCh37)
Canonical SPDI:: NC_000012.12:110721162:A:T
Gene:: PPP1CC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.110721163A>T, NC_000012.11:g.111158968A>T, NG_030325.1:g.26816T>A, NM_002710.4:c.885T>A, NM_002710.3:c.885T>A, NM_001244974.2:c.885T>A, NM_001244974.1:c.885T>A, XM_011538504.4:c.885T>A, XM_011538504.3:c.885T>A, XM_011538504.2:c.885T>A, XM_011538504.1:c.885T>A, XM_011538505.4:c.885T>A, XM_011538505.3:c.885T>A, XM_011538505.2:c.885T>A, XM_011538505.1:c.885T>A, XR_007063094.1:n.1069T>A

Select item 143829902211.

rs1438299022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:110722651 (GRCh38)
12:111160456 (GRCh37)
Canonical SPDI:: NC_000012.12:110722650:T:C
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110722651T>C, NC_000012.11:g.111160456T>C, NG_030325.1:g.25328A>G, NM_002710.4:c.568A>G, NM_002710.3:c.568A>G, NM_001244974.2:c.568A>G, NM_001244974.1:c.568A>G, XM_011538504.4:c.568A>G, XM_011538504.3:c.568A>G, XM_011538504.2:c.568A>G, XM_011538504.1:c.568A>G, XM_011538505.4:c.568A>G, XM_011538505.3:c.568A>G, XM_011538505.2:c.568A>G, XM_011538505.1:c.568A>G, XR_007063094.1:n.752A>G, NP_002701.1:p.Met190Val, NP_001231903.1:p.Met190Val, XP_011536806.1:p.Met190Val, XP_011536807.1:p.Met190Val

Select item 142740759812.

rs1427407598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110722591 (GRCh38)
12:111160396 (GRCh37)
Canonical SPDI:: NC_000012.12:110722590:C:T
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110722591C>T, NC_000012.11:g.111160396C>T, NG_030325.1:g.25388G>A, NM_002710.4:c.628G>A, NM_002710.3:c.628G>A, NM_001244974.2:c.628G>A, NM_001244974.1:c.628G>A, XM_011538504.4:c.628G>A, XM_011538504.3:c.628G>A, XM_011538504.2:c.628G>A, XM_011538504.1:c.628G>A, XM_011538505.4:c.628G>A, XM_011538505.3:c.628G>A, XM_011538505.2:c.628G>A, XM_011538505.1:c.628G>A, XR_007063094.1:n.812G>A, NP_002701.1:p.Asp210Asn, NP_001231903.1:p.Asp210Asn, XP_011536806.1:p.Asp210Asn, XP_011536807.1:p.Asp210Asn

Select item 141550431813.

rs1415504318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110722660 (GRCh38)
12:111160465 (GRCh37)
Canonical SPDI:: NC_000012.12:110722659:G:A
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000012.12:g.110722660G>A, NC_000012.11:g.111160465G>A, NG_030325.1:g.25319C>T, NM_002710.4:c.559C>T, NM_002710.3:c.559C>T, NM_001244974.2:c.559C>T, NM_001244974.1:c.559C>T, XM_011538504.4:c.559C>T, XM_011538504.3:c.559C>T, XM_011538504.2:c.559C>T, XM_011538504.1:c.559C>T, XM_011538505.4:c.559C>T, XM_011538505.3:c.559C>T, XM_011538505.2:c.559C>T, XM_011538505.1:c.559C>T, XR_007063094.1:n.743C>T, NP_002701.1:p.Arg187Trp, NP_001231903.1:p.Arg187Trp, XP_011536806.1:p.Arg187Trp, XP_011536807.1:p.Arg187Trp

Select item 141489959014.

rs1414899590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:110724701 (GRCh38)
12:111162506 (GRCh37)
Canonical SPDI:: NC_000012.12:110724700:A:G
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110724701A>G, NC_000012.11:g.111162506A>G, NG_030325.1:g.23278T>C, NM_002710.4:c.482T>C, NM_002710.3:c.482T>C, NM_001244974.2:c.482T>C, NM_001244974.1:c.482T>C, XM_011538504.4:c.482T>C, XM_011538504.3:c.482T>C, XM_011538504.2:c.482T>C, XM_011538504.1:c.482T>C, XM_011538505.4:c.482T>C, XM_011538505.3:c.482T>C, XM_011538505.2:c.482T>C, XM_011538505.1:c.482T>C, XR_007063094.1:n.666T>C, NP_002701.1:p.Ile161Thr, NP_001231903.1:p.Ile161Thr, XP_011536806.1:p.Ile161Thr, XP_011536807.1:p.Ile161Thr

Select item 141422005915.

rs1414220059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:110722264 (GRCh38)
12:111160069 (GRCh37)
Canonical SPDI:: NC_000012.12:110722263:A:C,NC_000012.12:110722263:A:G
Gene:: PPP1CC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110722264A>C, NC_000012.12:g.110722264A>G, NC_000012.11:g.111160069A>C, NC_000012.11:g.111160069A>G, NG_030325.1:g.25715T>G, NG_030325.1:g.25715T>C, NM_002710.4:c.753T>G, NM_002710.4:c.753T>C, NM_002710.3:c.753T>G, NM_002710.3:c.753T>C, NM_001244974.2:c.753T>G, NM_001244974.2:c.753T>C, NM_001244974.1:c.753T>G, NM_001244974.1:c.753T>C, XM_011538504.4:c.753T>G, XM_011538504.4:c.753T>C, XM_011538504.3:c.753T>G, XM_011538504.3:c.753T>C, XM_011538504.2:c.753T>G, XM_011538504.2:c.753T>C, XM_011538504.1:c.753T>G, XM_011538504.1:c.753T>C, XM_011538505.4:c.753T>G, XM_011538505.4:c.753T>C, XM_011538505.3:c.753T>G, XM_011538505.3:c.753T>C, XM_011538505.2:c.753T>G, XM_011538505.2:c.753T>C, XM_011538505.1:c.753T>G, XM_011538505.1:c.753T>C, XR_007063094.1:n.937T>G, XR_007063094.1:n.937T>C

Select item 140920396216.

rs1409203962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110722636 (GRCh38)
12:111160441 (GRCh37)
Canonical SPDI:: NC_000012.12:110722635:C:T
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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.110722636C>T, NC_000012.11:g.111160441C>T, NG_030325.1:g.25343G>A, NM_002710.4:c.583G>A, NM_002710.3:c.583G>A, NM_001244974.2:c.583G>A, NM_001244974.1:c.583G>A, XM_011538504.4:c.583G>A, XM_011538504.3:c.583G>A, XM_011538504.2:c.583G>A, XM_011538504.1:c.583G>A, XM_011538505.4:c.583G>A, XM_011538505.3:c.583G>A, XM_011538505.2:c.583G>A, XM_011538505.1:c.583G>A, XR_007063094.1:n.767G>A, NP_002701.1:p.Val195Ile, NP_001231903.1:p.Val195Ile, XP_011536806.1:p.Val195Ile, XP_011536807.1:p.Val195Ile

Select item 139489894117.

rs1394898941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:110722171 (GRCh38)
12:111159976 (GRCh37)
Canonical SPDI:: NC_000012.12:110722170:C:G
Gene:: PPP1CC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000012.12:g.110722171C>G, NC_000012.11:g.111159976C>G, NG_030325.1:g.25808G>C, NM_002710.4:c.846G>C, NM_002710.3:c.846G>C, NM_001244974.2:c.846G>C, NM_001244974.1:c.846G>C, XM_011538504.4:c.846G>C, XM_011538504.3:c.846G>C, XM_011538504.2:c.846G>C, XM_011538504.1:c.846G>C, XM_011538505.4:c.846G>C, XM_011538505.3:c.846G>C, XM_011538505.2:c.846G>C, XM_011538505.1:c.846G>C, XR_007063094.1:n.1030G>C, NP_002701.1:p.Met282Ile, NP_001231903.1:p.Met282Ile, XP_011536806.1:p.Met282Ile, XP_011536807.1:p.Met282Ile

Select item 139209511418.

rs1392095114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:110742665 (GRCh38)
12:111180470 (GRCh37)
Canonical SPDI:: NC_000012.12:110742664:G:A,NC_000012.12:110742664:G:T
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.110742665G>A, NC_000012.12:g.110742665G>T, NC_000012.11:g.111180470G>A, NC_000012.11:g.111180470G>T, NG_030325.1:g.5314C>T, NG_030325.1:g.5314C>A, NM_002710.4:c.43C>T, NM_002710.4:c.43C>A, NM_002710.3:c.43C>T, NM_002710.3:c.43C>A, NM_001244974.2:c.43C>T, NM_001244974.2:c.43C>A, NM_001244974.1:c.43C>T, NM_001244974.1:c.43C>A, XM_011538504.4:c.43C>T, XM_011538504.4:c.43C>A, XM_011538504.3:c.43C>T, XM_011538504.3:c.43C>A, XM_011538504.2:c.43C>T, XM_011538504.2:c.43C>A, XM_011538504.1:c.43C>T, XM_011538504.1:c.43C>A, XM_011538505.4:c.43C>T, XM_011538505.4:c.43C>A, XM_011538505.3:c.43C>T, XM_011538505.3:c.43C>A, XM_011538505.2:c.43C>T, XM_011538505.2:c.43C>A, XM_011538505.1:c.43C>T, XM_011538505.1:c.43C>A, XR_007063094.1:n.227C>T, XR_007063094.1:n.227C>A, NP_002701.1:p.Arg15Trp, NP_001231903.1:p.Arg15Trp, XP_011536806.1:p.Arg15Trp, XP_011536807.1:p.Arg15Trp

Select item 139169921019.

rs1391699210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110721123 (GRCh38)
12:111158928 (GRCh37)
Canonical SPDI:: NC_000012.12:110721122:G:A
Gene:: PPP1CC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000012.12:g.110721123G>A, NC_000012.11:g.111158928G>A, NG_030325.1:g.26856C>T, NM_002710.4:c.925C>T, NM_002710.3:c.925C>T, NM_001244974.2:c.925C>T, NM_001244974.1:c.925C>T, XM_011538504.4:c.925C>T, XM_011538504.3:c.925C>T, XM_011538504.2:c.925C>T, XM_011538504.1:c.925C>T, XM_011538505.4:c.925C>T, XM_011538505.3:c.925C>T, XM_011538505.2:c.925C>T, XM_011538505.1:c.925C>T, XR_007063094.1:n.1109C>T, NP_002701.1:p.Pro309Ser, NP_001231903.1:p.Pro309Ser, XP_011536806.1:p.Pro309Ser, XP_011536807.1:p.Pro309Ser

Select item 138904019620.

rs1389040196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110730641 (GRCh38)
12:111168446 (GRCh37)
Canonical SPDI:: NC_000012.12:110730640:C:T
Gene:: PPP1CC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.110730641C>T, NC_000012.11:g.111168446C>T, NG_030325.1:g.17338G>A, NM_002710.4:c.306G>A, NM_002710.3:c.306G>A, NM_001244974.2:c.306G>A, NM_001244974.1:c.306G>A, XM_011538504.4:c.306G>A, XM_011538504.3:c.306G>A, XM_011538504.2:c.306G>A, XM_011538504.1:c.306G>A, XM_011538505.4:c.306G>A, XM_011538505.3:c.306G>A, XM_011538505.2:c.306G>A, XM_011538505.1:c.306G>A, XR_007063094.1:n.490G>A

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