SNP Links for Protein (Select 238859653) - SNP

Links from Protein

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Select item 14902881781.

rs1490288178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48858956 (GRCh38)
19:49362213 (GRCh37)
Canonical SPDI:: NC_000019.10:48858955:G:T
Gene:: PLEKHA4 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48858956G>T, NC_000019.9:g.49362213G>T, NG_054880.1:g.14672C>A, NM_020904.3:c.876C>A, NM_020904.2:c.876C>A, NM_001161354.2:c.876C>A, NM_001161354.1:c.876C>A, XM_011527158.4:c.768C>A, XM_011527158.3:c.768C>A, XM_011527158.2:c.768C>A, XM_011527158.1:c.768C>A, XM_005259107.3:c.876C>A, XM_005259107.2:c.876C>A, XM_005259107.1:c.876C>A, XM_011527157.2:c.876C>A, XM_011527157.1:c.876C>A, XM_011527159.2:c.756C>A, XM_011527159.1:c.756C>A, XM_017027037.2:c.495C>A, XM_017027037.1:c.495C>A, XM_047439135.1:c.768C>A, XM_047439136.1:c.768C>A, XM_047439137.1:c.876C>A, XM_047439138.1:c.876C>A

Select item 14887295472.

rs1488729547 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 19:48854015 (GRCh38)
19:49357272 (GRCh37)
Canonical SPDI:: NC_000019.10:48854009:CTCCTCCT:CTCCT
Gene:: PLEKHA4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CTCCT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48854012CCT[1], NC_000019.9:g.49357269CCT[1], NG_054880.1:g.19613GAG[1], NM_020904.3:c.1168GAG[1], NM_020904.2:c.1168GAG[1], NM_001161354.2:c.1093GAG[1], NM_001161354.1:c.1093GAG[1], XM_011527158.4:c.1072GAG[1], XM_011527158.3:c.1072GAG[1], XM_011527158.2:c.1072GAG[1], XM_011527158.1:c.1072GAG[1], XM_005259107.3:c.1093GAG[1], XM_005259107.2:c.1093GAG[1], XM_005259107.1:c.1093GAG[1], XM_011527162.3:c.133GAG[1], XM_011527162.2:c.133GAG[1], XM_011527162.1:c.133GAG[1], XM_011527157.2:c.1180GAG[1], XM_011527157.1:c.1180GAG[1], XM_011527159.2:c.1060GAG[1], XM_011527159.1:c.1060GAG[1], XM_017027037.2:c.799GAG[1], XM_017027037.1:c.799GAG[1], XM_047439135.1:c.1060GAG[1], XM_047439136.1:c.985GAG[1], XM_047439137.1:c.1180GAG[1], XM_047439138.1:c.1093GAG[1], NP_065955.2:p.Glu391del, NP_001154826.1:p.Glu366del, XP_011525460.1:p.Glu359del, XP_005259164.1:p.Glu366del, XP_011525464.1:p.Glu46del, XP_011525459.1:p.Glu395del, XP_011525461.1:p.Glu355del, XP_016882526.1:p.Glu268del, XP_047295091.1:p.Glu355del, XP_047295092.1:p.Glu330del, XP_047295093.1:p.Glu395del, XP_047295094.1:p.Glu366del

Select item 14885560613.

rs1488556061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48867571 (GRCh38)
19:49370828 (GRCh37)
Canonical SPDI:: NC_000019.10:48867570:G:A
Gene:: PLEKHA4 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.48867571G>A, NC_000019.9:g.49370828G>A, NG_054880.1:g.6057C>T, NM_020904.3:c.50C>T, NM_020904.2:c.50C>T, NM_001161354.2:c.50C>T, NM_001161354.1:c.50C>T, XM_011527158.4:c.50C>T, XM_011527158.3:c.50C>T, XM_011527158.2:c.50C>T, XM_011527158.1:c.50C>T, XM_005259107.3:c.50C>T, XM_005259107.2:c.50C>T, XM_005259107.1:c.50C>T, XM_011527157.2:c.50C>T, XM_011527157.1:c.50C>T, XM_011527159.2:c.-84C>T, XM_011527159.1:c.-84C>T, XM_047439135.1:c.50C>T, XM_047439136.1:c.50C>T, XM_047439137.1:c.50C>T, XM_047439138.1:c.50C>T, NP_065955.2:p.Ser17Phe, NP_001154826.1:p.Ser17Phe, XP_011525460.1:p.Ser17Phe, XP_005259164.1:p.Ser17Phe, XP_011525459.1:p.Ser17Phe, XP_047295091.1:p.Ser17Phe, XP_047295092.1:p.Ser17Phe, XP_047295093.1:p.Ser17Phe, XP_047295094.1:p.Ser17Phe

Select item 14874061634.

rs1487406163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48859618 (GRCh38)
19:49362875 (GRCh37)
Canonical SPDI:: NC_000019.10:48859617:C:T
Gene:: PLEKHA4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48859618C>T, NC_000019.9:g.49362875C>T, NG_054880.1:g.14010G>A, NM_020904.3:c.543G>A, NM_020904.2:c.543G>A, NM_001161354.2:c.543G>A, NM_001161354.1:c.543G>A, XM_011527158.4:c.435G>A, XM_011527158.3:c.435G>A, XM_011527158.2:c.435G>A, XM_011527158.1:c.435G>A, XM_005259107.3:c.543G>A, XM_005259107.2:c.543G>A, XM_005259107.1:c.543G>A, XM_011527157.2:c.543G>A, XM_011527157.1:c.543G>A, XM_011527159.2:c.423G>A, XM_011527159.1:c.423G>A, XM_017027037.2:c.162G>A, XM_017027037.1:c.162G>A, XM_047439135.1:c.435G>A, XM_047439136.1:c.435G>A, XM_047439137.1:c.543G>A, XM_047439138.1:c.543G>A

Select item 14868444495.

rs1486844449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48847986 (GRCh38)
19:49351243 (GRCh37)
Canonical SPDI:: NC_000019.10:48847985:G:C
Gene:: PLEKHA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.48847986G>C, NC_000019.9:g.49351243G>C, NG_054880.1:g.25642C>G, NM_020904.3:c.1480C>G, NM_020904.2:c.1480C>G, NM_001161354.2:c.1405C>G, NM_001161354.1:c.1405C>G, XM_011527158.4:c.1384C>G, XM_011527158.3:c.1384C>G, XM_011527158.2:c.1384C>G, XM_011527158.1:c.1384C>G, XM_005259107.3:c.1405C>G, XM_005259107.2:c.1405C>G, XM_005259107.1:c.1405C>G, XM_011527162.3:c.445C>G, XM_011527162.2:c.445C>G, XM_011527162.1:c.445C>G, XM_011527157.2:c.1492C>G, XM_011527157.1:c.1492C>G, XM_011527159.2:c.1372C>G, XM_011527159.1:c.1372C>G, XM_017027037.2:c.1111C>G, XM_017027037.1:c.1111C>G, XM_047439135.1:c.1372C>G, XM_047439136.1:c.1297C>G, XM_047439137.1:c.1492C>G, XM_047439138.1:c.1405C>G, NP_065955.2:p.Leu494Val, NP_001154826.1:p.Leu469Val, XP_011525460.1:p.Leu462Val, XP_005259164.1:p.Leu469Val, XP_011525464.1:p.Leu149Val, XP_011525459.1:p.Leu498Val, XP_011525461.1:p.Leu458Val, XP_016882526.1:p.Leu371Val, XP_047295091.1:p.Leu458Val, XP_047295092.1:p.Leu433Val, XP_047295093.1:p.Leu498Val, XP_047295094.1:p.Leu469Val

Select item 14847017776.

rs1484701777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48858896 (GRCh38)
19:49362153 (GRCh37)
Canonical SPDI:: NC_000019.10:48858895:C:T
Gene:: PLEKHA4 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48858896C>T, NC_000019.9:g.49362153C>T, NG_054880.1:g.14732G>A, NM_020904.3:c.936G>A, NM_020904.2:c.936G>A, NM_001161354.2:c.936G>A, NM_001161354.1:c.936G>A, XM_011527158.4:c.828G>A, XM_011527158.3:c.828G>A, XM_011527158.2:c.828G>A, XM_011527158.1:c.828G>A, XM_005259107.3:c.936G>A, XM_005259107.2:c.936G>A, XM_005259107.1:c.936G>A, XM_011527157.2:c.936G>A, XM_011527157.1:c.936G>A, XM_011527159.2:c.816G>A, XM_011527159.1:c.816G>A, XM_017027037.2:c.555G>A, XM_017027037.1:c.555G>A, XM_047439135.1:c.828G>A, XM_047439136.1:c.828G>A, XM_047439137.1:c.936G>A, XM_047439138.1:c.936G>A

Select item 14817521607.

rs1481752160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48852263 (GRCh38)
19:49355520 (GRCh37)
Canonical SPDI:: NC_000019.10:48852262:T:C
Gene:: PLEKHA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48852263T>C, NC_000019.9:g.49355520T>C, NG_054880.1:g.21365A>G, NM_020904.3:c.1390A>G, NM_020904.2:c.1390A>G, NM_001161354.2:c.1315A>G, NM_001161354.1:c.1315A>G, XM_011527158.4:c.1294A>G, XM_011527158.3:c.1294A>G, XM_011527158.2:c.1294A>G, XM_011527158.1:c.1294A>G, XM_005259107.3:c.1315A>G, XM_005259107.2:c.1315A>G, XM_005259107.1:c.1315A>G, XM_011527162.3:c.355A>G, XM_011527162.2:c.355A>G, XM_011527162.1:c.355A>G, XM_011527157.2:c.1402A>G, XM_011527157.1:c.1402A>G, XM_011527159.2:c.1282A>G, XM_011527159.1:c.1282A>G, XM_017027037.2:c.1021A>G, XM_017027037.1:c.1021A>G, XM_047439135.1:c.1282A>G, XM_047439136.1:c.1207A>G, XM_047439137.1:c.1402A>G, XM_047439138.1:c.1315A>G, NP_065955.2:p.Thr464Ala, NP_001154826.1:p.Thr439Ala, XP_011525460.1:p.Thr432Ala, XP_005259164.1:p.Thr439Ala, XP_011525464.1:p.Thr119Ala, XP_011525459.1:p.Thr468Ala, XP_011525461.1:p.Thr428Ala, XP_016882526.1:p.Thr341Ala, XP_047295091.1:p.Thr428Ala, XP_047295092.1:p.Thr403Ala, XP_047295093.1:p.Thr468Ala, XP_047295094.1:p.Thr439Ala

Select item 14800625938.

rs1480062593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48852297 (GRCh38)
19:49355554 (GRCh37)
Canonical SPDI:: NC_000019.10:48852296:A:G
Gene:: PLEKHA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.48852297A>G, NC_000019.9:g.49355554A>G, NG_054880.1:g.21331T>C, NM_020904.3:c.1356T>C, NM_020904.2:c.1356T>C, NM_001161354.2:c.1281T>C, NM_001161354.1:c.1281T>C, XM_011527158.4:c.1260T>C, XM_011527158.3:c.1260T>C, XM_011527158.2:c.1260T>C, XM_011527158.1:c.1260T>C, XM_005259107.3:c.1281T>C, XM_005259107.2:c.1281T>C, XM_005259107.1:c.1281T>C, XM_011527162.3:c.321T>C, XM_011527162.2:c.321T>C, XM_011527162.1:c.321T>C, XM_011527157.2:c.1368T>C, XM_011527157.1:c.1368T>C, XM_011527159.2:c.1248T>C, XM_011527159.1:c.1248T>C, XM_017027037.2:c.987T>C, XM_017027037.1:c.987T>C, XM_047439135.1:c.1248T>C, XM_047439136.1:c.1173T>C, XM_047439137.1:c.1368T>C, XM_047439138.1:c.1281T>C

Select item 14769107379.

rs1476910737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48852248 (GRCh38)
19:49355505 (GRCh37)
Canonical SPDI:: NC_000019.10:48852247:G:A
Gene:: PLEKHA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.48852248G>A, NC_000019.9:g.49355505G>A, NG_054880.1:g.21380C>T, NM_020904.3:c.1405C>T, NM_020904.2:c.1405C>T, NM_001161354.2:c.1330C>T, NM_001161354.1:c.1330C>T, XM_011527158.4:c.1309C>T, XM_011527158.3:c.1309C>T, XM_011527158.2:c.1309C>T, XM_011527158.1:c.1309C>T, XM_005259107.3:c.1330C>T, XM_005259107.2:c.1330C>T, XM_005259107.1:c.1330C>T, XM_011527162.3:c.370C>T, XM_011527162.2:c.370C>T, XM_011527162.1:c.370C>T, XM_011527157.2:c.1417C>T, XM_011527157.1:c.1417C>T, XM_011527159.2:c.1297C>T, XM_011527159.1:c.1297C>T, XM_017027037.2:c.1036C>T, XM_017027037.1:c.1036C>T, XM_047439135.1:c.1297C>T, XM_047439136.1:c.1222C>T, XM_047439137.1:c.1417C>T, XM_047439138.1:c.1330C>T

Select item 147644979010.

rs1476449790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:48847925 (GRCh38)
19:49351182 (GRCh37)
Canonical SPDI:: NC_000019.10:48847924:T:G
Gene:: PLEKHA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48847925T>G, NC_000019.9:g.49351182T>G, NG_054880.1:g.25703A>C, NM_020904.3:c.1541A>C, NM_020904.2:c.1541A>C, NM_001161354.2:c.1466A>C, NM_001161354.1:c.1466A>C, XM_011527158.4:c.1445A>C, XM_011527158.3:c.1445A>C, XM_011527158.2:c.1445A>C, XM_011527158.1:c.1445A>C, XM_005259107.3:c.1466A>C, XM_005259107.2:c.1466A>C, XM_005259107.1:c.1466A>C, XM_011527162.3:c.506A>C, XM_011527162.2:c.506A>C, XM_011527162.1:c.506A>C, XM_011527157.2:c.1553A>C, XM_011527157.1:c.1553A>C, XM_011527159.2:c.1433A>C, XM_011527159.1:c.1433A>C, XM_017027037.2:c.1172A>C, XM_017027037.1:c.1172A>C, XM_047439135.1:c.1433A>C, XM_047439136.1:c.1358A>C, XM_047439137.1:c.1553A>C, XM_047439138.1:c.1466A>C, NP_065955.2:p.Gln514Pro, NP_001154826.1:p.Gln489Pro, XP_011525460.1:p.Gln482Pro, XP_005259164.1:p.Gln489Pro, XP_011525464.1:p.Gln169Pro, XP_011525459.1:p.Gln518Pro, XP_011525461.1:p.Gln478Pro, XP_016882526.1:p.Gln391Pro, XP_047295091.1:p.Gln478Pro, XP_047295092.1:p.Gln453Pro, XP_047295093.1:p.Gln518Pro, XP_047295094.1:p.Gln489Pro

Select item 147210468911.

rs1472104689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48847997 (GRCh38)
19:49351254 (GRCh37)
Canonical SPDI:: NC_000019.10:48847996:G:A
Gene:: PLEKHA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.48847997G>A, NC_000019.9:g.49351254G>A, NG_054880.1:g.25631C>T, NM_020904.3:c.1469C>T, NM_020904.2:c.1469C>T, NM_001161354.2:c.1394C>T, NM_001161354.1:c.1394C>T, XM_011527158.4:c.1373C>T, XM_011527158.3:c.1373C>T, XM_011527158.2:c.1373C>T, XM_011527158.1:c.1373C>T, XM_005259107.3:c.1394C>T, XM_005259107.2:c.1394C>T, XM_005259107.1:c.1394C>T, XM_011527162.3:c.434C>T, XM_011527162.2:c.434C>T, XM_011527162.1:c.434C>T, XM_011527157.2:c.1481C>T, XM_011527157.1:c.1481C>T, XM_011527159.2:c.1361C>T, XM_011527159.1:c.1361C>T, XM_017027037.2:c.1100C>T, XM_017027037.1:c.1100C>T, XM_047439135.1:c.1361C>T, XM_047439136.1:c.1286C>T, XM_047439137.1:c.1481C>T, XM_047439138.1:c.1394C>T, NP_065955.2:p.Thr490Met, NP_001154826.1:p.Thr465Met, XP_011525460.1:p.Thr458Met, XP_005259164.1:p.Thr465Met, XP_011525464.1:p.Thr145Met, XP_011525459.1:p.Thr494Met, XP_011525461.1:p.Thr454Met, XP_016882526.1:p.Thr367Met, XP_047295091.1:p.Thr454Met, XP_047295092.1:p.Thr429Met, XP_047295093.1:p.Thr494Met, XP_047295094.1:p.Thr465Met

Select item 147001407212.

rs1470014072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48861481 (GRCh38)
19:49364738 (GRCh37)
Canonical SPDI:: NC_000019.10:48861480:G:A
Gene:: PLEKHA4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48861481G>A, NC_000019.9:g.49364738G>A, NG_054880.1:g.12147C>T, NM_020904.3:c.286C>T, NM_020904.2:c.286C>T, NM_001161354.2:c.286C>T, NM_001161354.1:c.286C>T, XM_011527158.4:c.178C>T, XM_011527158.3:c.178C>T, XM_011527158.2:c.178C>T, XM_011527158.1:c.178C>T, XM_005259107.3:c.286C>T, XM_005259107.2:c.286C>T, XM_005259107.1:c.286C>T, XM_011527157.2:c.286C>T, XM_011527157.1:c.286C>T, XM_011527159.2:c.166C>T, XM_011527159.1:c.166C>T, XM_017027037.2:c.-96C>T, XM_017027037.1:c.-96C>T, XM_047439135.1:c.178C>T, XM_047439136.1:c.178C>T, XM_047439137.1:c.286C>T, XM_047439138.1:c.286C>T

Select item 146941448413.

rs1469414484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:48859678 (GRCh38)
19:49362935 (GRCh37)
Canonical SPDI:: NC_000019.10:48859677:T:C,NC_000019.10:48859677:T:G
Gene:: PLEKHA4 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.48859678T>C, NC_000019.10:g.48859678T>G, NC_000019.9:g.49362935T>C, NC_000019.9:g.49362935T>G, NG_054880.1:g.13950A>G, NG_054880.1:g.13950A>C, NM_020904.3:c.483A>G, NM_020904.3:c.483A>C, NM_020904.2:c.483A>G, NM_020904.2:c.483A>C, NM_001161354.2:c.483A>G, NM_001161354.2:c.483A>C, NM_001161354.1:c.483A>G, NM_001161354.1:c.483A>C, XM_011527158.4:c.375A>G, XM_011527158.4:c.375A>C, XM_011527158.3:c.375A>G, XM_011527158.3:c.375A>C, XM_011527158.2:c.375A>G, XM_011527158.2:c.375A>C, XM_011527158.1:c.375A>G, XM_011527158.1:c.375A>C, XM_005259107.3:c.483A>G, XM_005259107.3:c.483A>C, XM_005259107.2:c.483A>G, XM_005259107.2:c.483A>C, XM_005259107.1:c.483A>G, XM_005259107.1:c.483A>C, XM_011527157.2:c.483A>G, XM_011527157.2:c.483A>C, XM_011527157.1:c.483A>G, XM_011527157.1:c.483A>C, XM_011527159.2:c.363A>G, XM_011527159.2:c.363A>C, XM_011527159.1:c.363A>G, XM_011527159.1:c.363A>C, XM_017027037.2:c.102A>G, XM_017027037.2:c.102A>C, XM_017027037.1:c.102A>G, XM_017027037.1:c.102A>C, XM_047439135.1:c.375A>G, XM_047439135.1:c.375A>C, XM_047439136.1:c.375A>G, XM_047439136.1:c.375A>C, XM_047439137.1:c.483A>G, XM_047439137.1:c.483A>C, XM_047439138.1:c.483A>G, XM_047439138.1:c.483A>C, NP_065955.2:p.Gln161His, NP_001154826.1:p.Gln161His, XP_011525460.1:p.Gln125His, XP_005259164.1:p.Gln161His, XP_011525459.1:p.Gln161His, XP_011525461.1:p.Gln121His, XP_016882526.1:p.Gln34His, XP_047295091.1:p.Gln125His, XP_047295092.1:p.Gln125His, XP_047295093.1:p.Gln161His, XP_047295094.1:p.Gln161His

Select item 146227386114.

rs1462273861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:48865569 (GRCh38)
19:49368826 (GRCh37)
Canonical SPDI:: NC_000019.10:48865568:C:A,NC_000019.10:48865568:C:T
Gene:: PLEKHA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.48865569C>A, NC_000019.10:g.48865569C>T, NC_000019.9:g.49368826C>A, NC_000019.9:g.49368826C>T, NG_054880.1:g.8059G>T, NG_054880.1:g.8059G>A, NM_020904.3:c.126G>T, NM_020904.3:c.126G>A, NM_020904.2:c.126G>T, NM_020904.2:c.126G>A, NM_001161354.2:c.126G>T, NM_001161354.2:c.126G>A, NM_001161354.1:c.126G>T, NM_001161354.1:c.126G>A, XM_005259107.3:c.126G>T, XM_005259107.3:c.126G>A, XM_005259107.2:c.126G>T, XM_005259107.2:c.126G>A, XM_005259107.1:c.126G>T, XM_005259107.1:c.126G>A, XM_011527157.2:c.126G>T, XM_011527157.2:c.126G>A, XM_011527157.1:c.126G>T, XM_011527157.1:c.126G>A, XM_011527159.2:c.-8G>T, XM_011527159.2:c.-8G>A, XM_011527159.1:c.-8G>T, XM_011527159.1:c.-8G>A, XM_017027037.2:c.-183G>T, XM_017027037.2:c.-183G>A, XM_017027037.1:c.-183G>T, XM_017027037.1:c.-183G>A, XM_047439137.1:c.126G>T, XM_047439137.1:c.126G>A, XM_047439138.1:c.126G>T, XM_047439138.1:c.126G>A, NP_065955.2:p.Lys42Asn, NP_001154826.1:p.Lys42Asn, XP_005259164.1:p.Lys42Asn, XP_011525459.1:p.Lys42Asn, XP_047295093.1:p.Lys42Asn, XP_047295094.1:p.Lys42Asn

Select item 145831691315.

rs1458316913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48865605 (GRCh38)
19:49368862 (GRCh37)
Canonical SPDI:: NC_000019.10:48865604:G:A
Gene:: PLEKHA4 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000019.10:g.48865605G>A, NC_000019.9:g.49368862G>A, NG_054880.1:g.8023C>T, NM_020904.3:c.90C>T, NM_020904.2:c.90C>T, NM_001161354.2:c.90C>T, NM_001161354.1:c.90C>T, XM_005259107.3:c.90C>T, XM_005259107.2:c.90C>T, XM_005259107.1:c.90C>T, XM_011527157.2:c.90C>T, XM_011527157.1:c.90C>T, XM_011527159.2:c.-44C>T, XM_011527159.1:c.-44C>T, XM_047439137.1:c.90C>T, XM_047439138.1:c.90C>T

Select item 145422334916.

rs1454223349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48860403 (GRCh38)
19:49363660 (GRCh37)
Canonical SPDI:: NC_000019.10:48860402:C:A
Gene:: PLEKHA4 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48860403C>A, NC_000019.9:g.49363660C>A, NG_054880.1:g.13225G>T, NM_020904.3:c.423G>T, NM_020904.2:c.423G>T, NM_001161354.2:c.423G>T, NM_001161354.1:c.423G>T, XM_011527158.4:c.315G>T, XM_011527158.3:c.315G>T, XM_011527158.2:c.315G>T, XM_011527158.1:c.315G>T, XM_005259107.3:c.423G>T, XM_005259107.2:c.423G>T, XM_005259107.1:c.423G>T, XM_011527157.2:c.423G>T, XM_011527157.1:c.423G>T, XM_011527159.2:c.303G>T, XM_011527159.1:c.303G>T, XM_017027037.2:c.42G>T, XM_017027037.1:c.42G>T, XM_047439135.1:c.315G>T, XM_047439136.1:c.315G>T, XM_047439137.1:c.423G>T, XM_047439138.1:c.423G>T

Select item 145406062517.

rs1454060625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48859080 (GRCh38)
19:49362337 (GRCh37)
Canonical SPDI:: NC_000019.10:48859079:G:A
Gene:: PLEKHA4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.48859080G>A, NC_000019.9:g.49362337G>A, NG_054880.1:g.14548C>T, NM_020904.3:c.752C>T, NM_020904.2:c.752C>T, NM_001161354.2:c.752C>T, NM_001161354.1:c.752C>T, XM_011527158.4:c.644C>T, XM_011527158.3:c.644C>T, XM_011527158.2:c.644C>T, XM_011527158.1:c.644C>T, XM_005259107.3:c.752C>T, XM_005259107.2:c.752C>T, XM_005259107.1:c.752C>T, XM_011527157.2:c.752C>T, XM_011527157.1:c.752C>T, XM_011527159.2:c.632C>T, XM_011527159.1:c.632C>T, XM_017027037.2:c.371C>T, XM_017027037.1:c.371C>T, XM_047439135.1:c.644C>T, XM_047439136.1:c.644C>T, XM_047439137.1:c.752C>T, XM_047439138.1:c.752C>T, NP_065955.2:p.Ala251Val, NP_001154826.1:p.Ala251Val, XP_011525460.1:p.Ala215Val, XP_005259164.1:p.Ala251Val, XP_011525459.1:p.Ala251Val, XP_011525461.1:p.Ala211Val, XP_016882526.1:p.Ala124Val, XP_047295091.1:p.Ala215Val, XP_047295092.1:p.Ala215Val, XP_047295093.1:p.Ala251Val, XP_047295094.1:p.Ala251Val

Select item 145067060718.

rs1450670607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48860422 (GRCh38)
19:49363679 (GRCh37)
Canonical SPDI:: NC_000019.10:48860421:G:T
Gene:: PLEKHA4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48860422G>T, NC_000019.9:g.49363679G>T, NG_054880.1:g.13206C>A, NM_020904.3:c.404C>A, NM_020904.2:c.404C>A, NM_001161354.2:c.404C>A, NM_001161354.1:c.404C>A, XM_011527158.4:c.296C>A, XM_011527158.3:c.296C>A, XM_011527158.2:c.296C>A, XM_011527158.1:c.296C>A, XM_005259107.3:c.404C>A, XM_005259107.2:c.404C>A, XM_005259107.1:c.404C>A, XM_011527157.2:c.404C>A, XM_011527157.1:c.404C>A, XM_011527159.2:c.284C>A, XM_011527159.1:c.284C>A, XM_017027037.2:c.23C>A, XM_017027037.1:c.23C>A, XM_047439135.1:c.296C>A, XM_047439136.1:c.296C>A, XM_047439137.1:c.404C>A, XM_047439138.1:c.404C>A, NP_065955.2:p.Ala135Asp, NP_001154826.1:p.Ala135Asp, XP_011525460.1:p.Ala99Asp, XP_005259164.1:p.Ala135Asp, XP_011525459.1:p.Ala135Asp, XP_011525461.1:p.Ala95Asp, XP_016882526.1:p.Ala8Asp, XP_047295091.1:p.Ala99Asp, XP_047295092.1:p.Ala99Asp, XP_047295093.1:p.Ala135Asp, XP_047295094.1:p.Ala135Asp

Select item 145054641919.

rs1450546419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48838080 (GRCh38)
19:49341337 (GRCh37)
Canonical SPDI:: NC_000019.10:48838079:G:A
Gene:: HSD17B14 (Varview), PLEKHA4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.48838080G>A, NC_000019.9:g.49341337G>A, NG_054880.1:g.35548C>T, NM_020904.3:c.2014C>T, NM_020904.2:c.2014C>T, NM_001161354.2:c.1718C>T, NM_001161354.1:c.1718C>T, XM_011527158.4:c.1918C>T, XM_011527158.3:c.1918C>T, XM_011527158.2:c.1918C>T, XM_011527158.1:c.1918C>T, XM_005259107.3:c.1939C>T, XM_005259107.2:c.1939C>T, XM_005259107.1:c.1939C>T, XM_011527162.3:c.979C>T, XM_011527162.2:c.979C>T, XM_011527162.1:c.979C>T, XM_011527157.2:c.2026C>T, XM_011527157.1:c.2026C>T, XM_011527159.2:c.1906C>T, XM_011527159.1:c.1906C>T, XM_017027037.2:c.1645C>T, XM_017027037.1:c.1645C>T, XM_047439135.1:c.1906C>T, XM_047439136.1:c.1831C>T, XM_047439137.1:c.1967C>T, XM_047439138.1:c.1880C>T, NP_065955.2:p.Arg672Trp, NP_001154826.1:p.Ala573Val, XP_011525460.1:p.Arg640Trp, XP_005259164.1:p.Arg647Trp, XP_011525464.1:p.Arg327Trp, XP_011525459.1:p.Arg676Trp, XP_011525461.1:p.Arg636Trp, XP_016882526.1:p.Arg549Trp, XP_047295091.1:p.Arg636Trp, XP_047295092.1:p.Arg611Trp, XP_047295093.1:p.Ala656Val, XP_047295094.1:p.Ala627Val

Select item 144909006620.

rs1449090066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:48859488 (GRCh38)
19:49362745 (GRCh37)
Canonical SPDI:: NC_000019.10:48859487:G:A,NC_000019.10:48859487:G:T
Gene:: PLEKHA4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.48859488G>A, NC_000019.10:g.48859488G>T, NC_000019.9:g.49362745G>A, NC_000019.9:g.49362745G>T, NG_054880.1:g.14140C>T, NG_054880.1:g.14140C>A, NM_020904.3:c.673C>T, NM_020904.3:c.673C>A, NM_020904.2:c.673C>T, NM_020904.2:c.673C>A, NM_001161354.2:c.673C>T, NM_001161354.2:c.673C>A, NM_001161354.1:c.673C>T, NM_001161354.1:c.673C>A, XM_011527158.4:c.565C>T, XM_011527158.4:c.565C>A, XM_011527158.3:c.565C>T, XM_011527158.3:c.565C>A, XM_011527158.2:c.565C>T, XM_011527158.2:c.565C>A, XM_011527158.1:c.565C>T, XM_011527158.1:c.565C>A, XM_005259107.3:c.673C>T, XM_005259107.3:c.673C>A, XM_005259107.2:c.673C>T, XM_005259107.2:c.673C>A, XM_005259107.1:c.673C>T, XM_005259107.1:c.673C>A, XM_011527157.2:c.673C>T, XM_011527157.2:c.673C>A, XM_011527157.1:c.673C>T, XM_011527157.1:c.673C>A, XM_011527159.2:c.553C>T, XM_011527159.2:c.553C>A, XM_011527159.1:c.553C>T, XM_011527159.1:c.553C>A, XM_017027037.2:c.292C>T, XM_017027037.2:c.292C>A, XM_017027037.1:c.292C>T, XM_017027037.1:c.292C>A, XM_047439135.1:c.565C>T, XM_047439135.1:c.565C>A, XM_047439136.1:c.565C>T, XM_047439136.1:c.565C>A, XM_047439137.1:c.673C>T, XM_047439137.1:c.673C>A, XM_047439138.1:c.673C>T, XM_047439138.1:c.673C>A, NP_065955.2:p.Arg225Trp, NP_001154826.1:p.Arg225Trp, XP_011525460.1:p.Arg189Trp, XP_005259164.1:p.Arg225Trp, XP_011525459.1:p.Arg225Trp, XP_011525461.1:p.Arg185Trp, XP_016882526.1:p.Arg98Trp, XP_047295091.1:p.Arg189Trp, XP_047295092.1:p.Arg189Trp, XP_047295093.1:p.Arg225Trp, XP_047295094.1:p.Arg225Trp

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