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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1483929196

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:16794553 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/251124, GnomAD_exome)
A=0.000000 (0/140226, GnomAD)
A=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PLEKHA7 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 10680 G=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 466 G=1.000 A=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 251124 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135172 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48990 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34564 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16218 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10050 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6130 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140226 G=1.000000 A=0.000000
gnomAD - Genomes European Sub 75948 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42016 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13660 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 11 NC_000011.10:g.16794553G>A
GRCh37.p13 chr 11 NC_000011.9:g.16816100G>A
Gene: PLEKHA7, pleckstrin homology domain containing A7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PLEKHA7 transcript variant 1 NM_001329630.2:c.2680C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform 1 NP_001316559.1:p.His894Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant 2 NM_175058.5:c.2680C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform 2 NP_778228.3:p.His894Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant 3 NM_001329631.2:c.2680C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform 3 NP_001316560.1:p.His894Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X13 XM_024448370.2:c.2611-335…

XM_024448370.2:c.2611-3351C>T

 		N/A Intron Variant
PLEKHA7 transcript variant X27 XM_047426441.1:c.2410-335…

XM_047426441.1:c.2410-3351C>T

 		N/A Intron Variant
PLEKHA7 transcript variant X31 XM_047426444.1:c.2410-335…

XM_047426444.1:c.2410-3351C>T

 		N/A Intron Variant
PLEKHA7 transcript variant X34 XM_047426447.1:c.2272-335…

XM_047426447.1:c.2272-3351C>T

 		N/A Intron Variant
PLEKHA7 transcript variant X1 XM_047426426.1:c.2881C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X1 XP_047282382.1:p.His961Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X2 XM_024448357.2:c.2881C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X2 XP_024304125.1:p.His961Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X3 XM_024448358.2:c.2881C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X3 XP_024304126.1:p.His961Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X4 XM_047426427.1:c.2800C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X4 XP_047282383.1:p.His934Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X5 XM_047426428.1:c.2761C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X5 XP_047282384.1:p.His921Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X6 XM_047426429.1:c.2800C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X6 XP_047282385.1:p.His934Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X7 XM_047426430.1:c.2761C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X7 XP_047282386.1:p.His921Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X8 XM_047426431.1:c.2680C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X8 XP_047282387.1:p.His894Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X9 XM_047426432.1:c.2680C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X9 XP_047282388.1:p.His894Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X10 XM_047426433.1:c.2752C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X10 XP_047282389.1:p.His918Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X11 XM_024448361.2:c.2743C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X11 XP_024304129.1:p.His915Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X12 XM_024448364.2:c.2680C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X12 XP_024304132.1:p.His894Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X12 XM_024448362.2:c.2707C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X12 XP_024304130.1:p.His903Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X14 XM_047426434.1:c.2623C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X14 XP_047282390.1:p.His875Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X15 XM_024448365.2:c.2599C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X15 XP_024304133.1:p.His867Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X16 XM_047426435.1:c.2662C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X16 XP_047282391.1:p.His888Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X17 XM_047426436.1:c.2680C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X17 XP_047282392.1:p.His894Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X18 XM_024448366.2:c.2563C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X18 XP_024304134.1:p.His855Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X19 XM_024448367.2:c.2563C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X18 XP_024304135.1:p.His855Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X20 XM_024448369.2:c.2563C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X18 XP_024304137.1:p.His855Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X21 XM_047426437.1:c.2542C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X19 XP_047282393.1:p.His848Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X22 XM_047426438.1:c.2881C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X20 XP_047282394.1:p.His961Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X24 XM_017017241.3:c.2881C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X21 XP_016872730.1:p.His961Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X25 XM_047426439.1:c.2542C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X22 XP_047282395.1:p.His848Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X26 XM_047426440.1:c.2800C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X23 XP_047282396.1:p.His934Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X28 XM_017017242.3:c.2761C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X25 XP_016872731.1:p.His921Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X29 XM_047426442.1:c.2542C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X26 XP_047282398.1:p.His848Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X30 XM_047426443.1:c.2542C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X27 XP_047282399.1:p.His848Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X32 XM_047426445.1:c.2398C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X29 XP_047282401.1:p.His800Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X33 XM_047426446.1:c.2362C>T H [CAC] > Y [TAC] Coding Sequence Variant
pleckstrin homology domain-containing family A member 7 isoform X30 XP_047282402.1:p.His788Tyr H (His) > Y (Tyr) Missense Variant
PLEKHA7 transcript variant X23 XR_007062454.1:n.2894C>T N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p14 chr 11 NC_000011.10:g.16794553= NC_000011.10:g.16794553G>A
GRCh37.p13 chr 11 NC_000011.9:g.16816100= NC_000011.9:g.16816100G>A
PLEKHA7 transcript variant 2 NM_175058.5:c.2680= NM_175058.5:c.2680C>T
PLEKHA7 transcript variant 2 NM_175058.4:c.2680= NM_175058.4:c.2680C>T
PLEKHA7 transcript variant X24 XM_017017241.3:c.2881= XM_017017241.3:c.2881C>T
PLEKHA7 transcript variant X17 XM_017017241.2:c.2881= XM_017017241.2:c.2881C>T
PLEKHA7 transcript variant X2 XM_017017241.1:c.2881= XM_017017241.1:c.2881C>T
PLEKHA7 transcript variant X28 XM_017017242.3:c.2761= XM_017017242.3:c.2761C>T
PLEKHA7 transcript variant X18 XM_017017242.2:c.2761= XM_017017242.2:c.2761C>T
PLEKHA7 transcript variant X3 XM_017017242.1:c.2761= XM_017017242.1:c.2761C>T
PLEKHA7 transcript variant X3 XM_024448358.2:c.2881= XM_024448358.2:c.2881C>T
PLEKHA7 transcript variant X3 XM_024448358.1:c.2881= XM_024448358.1:c.2881C>T
PLEKHA7 transcript variant X12 XM_024448364.2:c.2680= XM_024448364.2:c.2680C>T
PLEKHA7 transcript variant 1 NM_001329630.2:c.2680= NM_001329630.2:c.2680C>T
PLEKHA7 transcript variant 1 NM_001329630.1:c.2680= NM_001329630.1:c.2680C>T
PLEKHA7 transcript variant X18 XM_024448366.2:c.2563= XM_024448366.2:c.2563C>T
PLEKHA7 transcript variant X11 XM_024448366.1:c.2563= XM_024448366.1:c.2563C>T
PLEKHA7 transcript variant X19 XM_024448367.2:c.2563= XM_024448367.2:c.2563C>T
PLEKHA7 transcript variant X12 XM_024448367.1:c.2563= XM_024448367.1:c.2563C>T
PLEKHA7 transcript variant X20 XM_024448369.2:c.2563= XM_024448369.2:c.2563C>T
PLEKHA7 transcript variant X14 XM_024448369.1:c.2563= XM_024448369.1:c.2563C>T
PLEKHA7 transcript variant 3 NM_001329631.2:c.2680= NM_001329631.2:c.2680C>T
PLEKHA7 transcript variant 3 NM_001329631.1:c.2680= NM_001329631.1:c.2680C>T
PLEKHA7 transcript variant X15 XM_024448365.2:c.2599= XM_024448365.2:c.2599C>T
PLEKHA7 transcript variant X10 XM_024448365.1:c.2599= XM_024448365.1:c.2599C>T
PLEKHA7 transcript variant X11 XM_024448361.2:c.2743= XM_024448361.2:c.2743C>T
PLEKHA7 transcript variant X6 XM_024448361.1:c.2743= XM_024448361.1:c.2743C>T
PLEKHA7 transcript variant X12 XM_024448362.2:c.2707= XM_024448362.2:c.2707C>T
PLEKHA7 transcript variant X7 XM_024448362.1:c.2707= XM_024448362.1:c.2707C>T
PLEKHA7 transcript variant X2 XM_024448357.2:c.2881= XM_024448357.2:c.2881C>T
PLEKHA7 transcript variant X2 XM_024448357.1:c.2881= XM_024448357.1:c.2881C>T
PLEKHA7 transcript variant X10 XM_047426433.1:c.2752= XM_047426433.1:c.2752C>T
PLEKHA7 transcript variant X16 XM_047426435.1:c.2662= XM_047426435.1:c.2662C>T
PLEKHA7 transcript variant X6 XM_047426429.1:c.2800= XM_047426429.1:c.2800C>T
PLEKHA7 transcript variant X25 XM_047426439.1:c.2542= XM_047426439.1:c.2542C>T
PLEKHA7 transcript variant X7 XM_047426430.1:c.2761= XM_047426430.1:c.2761C>T
PLEKHA7 transcript variant 4 NM_001410960.1:c.2680= NM_001410960.1:c.2680C>T
PLEKHA7 transcript variant X17 XM_047426436.1:c.2680= XM_047426436.1:c.2680C>T
PLEKHA7 transcript variant X32 XM_047426445.1:c.2398= XM_047426445.1:c.2398C>T
PLEKHA7 transcript variant X26 XM_047426440.1:c.2800= XM_047426440.1:c.2800C>T
PLEKHA7 transcript variant X29 XM_047426442.1:c.2542= XM_047426442.1:c.2542C>T
PLEKHA7 transcript variant X30 XM_047426443.1:c.2542= XM_047426443.1:c.2542C>T
PLEKHA7 transcript variant X33 XM_047426446.1:c.2362= XM_047426446.1:c.2362C>T
PLEKHA7 transcript variant X22 XM_047426438.1:c.2881= XM_047426438.1:c.2881C>T
PLEKHA7 transcript variant X1 XM_047426426.1:c.2881= XM_047426426.1:c.2881C>T
PLEKHA7 transcript variant X14 XM_047426434.1:c.2623= XM_047426434.1:c.2623C>T
PLEKHA7 transcript variant X4 XM_047426427.1:c.2800= XM_047426427.1:c.2800C>T
PLEKHA7 transcript variant X21 XM_047426437.1:c.2542= XM_047426437.1:c.2542C>T
PLEKHA7 transcript variant X5 XM_047426428.1:c.2761= XM_047426428.1:c.2761C>T
PLEKHA7 transcript variant X8 XM_047426431.1:c.2680= XM_047426431.1:c.2680C>T
PLEKHA7 transcript variant X9 XM_047426432.1:c.2680= XM_047426432.1:c.2680C>T
PLEKHA7 transcript variant X23 XR_007062454.1:n.2894= XR_007062454.1:n.2894C>T
pleckstrin homology domain-containing family A member 7 isoform 2 NP_778228.3:p.His894= NP_778228.3:p.His894Tyr
pleckstrin homology domain-containing family A member 7 isoform X21 XP_016872730.1:p.His961= XP_016872730.1:p.His961Tyr
pleckstrin homology domain-containing family A member 7 isoform X25 XP_016872731.1:p.His921= XP_016872731.1:p.His921Tyr
pleckstrin homology domain-containing family A member 7 isoform X3 XP_024304126.1:p.His961= XP_024304126.1:p.His961Tyr
pleckstrin homology domain-containing family A member 7 isoform X12 XP_024304132.1:p.His894= XP_024304132.1:p.His894Tyr
pleckstrin homology domain-containing family A member 7 isoform 1 NP_001316559.1:p.His894= NP_001316559.1:p.His894Tyr
pleckstrin homology domain-containing family A member 7 isoform X18 XP_024304134.1:p.His855= XP_024304134.1:p.His855Tyr
pleckstrin homology domain-containing family A member 7 isoform X18 XP_024304135.1:p.His855= XP_024304135.1:p.His855Tyr
pleckstrin homology domain-containing family A member 7 isoform X18 XP_024304137.1:p.His855= XP_024304137.1:p.His855Tyr
pleckstrin homology domain-containing family A member 7 isoform 3 NP_001316560.1:p.His894= NP_001316560.1:p.His894Tyr
pleckstrin homology domain-containing family A member 7 isoform X15 XP_024304133.1:p.His867= XP_024304133.1:p.His867Tyr
pleckstrin homology domain-containing family A member 7 isoform X11 XP_024304129.1:p.His915= XP_024304129.1:p.His915Tyr
pleckstrin homology domain-containing family A member 7 isoform X12 XP_024304130.1:p.His903= XP_024304130.1:p.His903Tyr
pleckstrin homology domain-containing family A member 7 isoform X2 XP_024304125.1:p.His961= XP_024304125.1:p.His961Tyr
pleckstrin homology domain-containing family A member 7 isoform X10 XP_047282389.1:p.His918= XP_047282389.1:p.His918Tyr
pleckstrin homology domain-containing family A member 7 isoform X16 XP_047282391.1:p.His888= XP_047282391.1:p.His888Tyr
pleckstrin homology domain-containing family A member 7 isoform X6 XP_047282385.1:p.His934= XP_047282385.1:p.His934Tyr
pleckstrin homology domain-containing family A member 7 isoform X22 XP_047282395.1:p.His848= XP_047282395.1:p.His848Tyr
pleckstrin homology domain-containing family A member 7 isoform X7 XP_047282386.1:p.His921= XP_047282386.1:p.His921Tyr
pleckstrin homology domain-containing family A member 7 isoform X17 XP_047282392.1:p.His894= XP_047282392.1:p.His894Tyr
pleckstrin homology domain-containing family A member 7 isoform X29 XP_047282401.1:p.His800= XP_047282401.1:p.His800Tyr
pleckstrin homology domain-containing family A member 7 isoform X23 XP_047282396.1:p.His934= XP_047282396.1:p.His934Tyr
pleckstrin homology domain-containing family A member 7 isoform X26 XP_047282398.1:p.His848= XP_047282398.1:p.His848Tyr
pleckstrin homology domain-containing family A member 7 isoform X27 XP_047282399.1:p.His848= XP_047282399.1:p.His848Tyr
pleckstrin homology domain-containing family A member 7 isoform X30 XP_047282402.1:p.His788= XP_047282402.1:p.His788Tyr
pleckstrin homology domain-containing family A member 7 isoform X20 XP_047282394.1:p.His961= XP_047282394.1:p.His961Tyr
pleckstrin homology domain-containing family A member 7 isoform X1 XP_047282382.1:p.His961= XP_047282382.1:p.His961Tyr
pleckstrin homology domain-containing family A member 7 isoform X14 XP_047282390.1:p.His875= XP_047282390.1:p.His875Tyr
pleckstrin homology domain-containing family A member 7 isoform X4 XP_047282383.1:p.His934= XP_047282383.1:p.His934Tyr
pleckstrin homology domain-containing family A member 7 isoform X19 XP_047282393.1:p.His848= XP_047282393.1:p.His848Tyr
pleckstrin homology domain-containing family A member 7 isoform X5 XP_047282384.1:p.His921= XP_047282384.1:p.His921Tyr
pleckstrin homology domain-containing family A member 7 isoform X8 XP_047282387.1:p.His894= XP_047282387.1:p.His894Tyr
pleckstrin homology domain-containing family A member 7 isoform X9 XP_047282388.1:p.His894= XP_047282388.1:p.His894Tyr
PLEKHA7 transcript variant X13 XM_024448370.2:c.2611-3351= XM_024448370.2:c.2611-3351C>T
PLEKHA7 transcript variant X27 XM_047426441.1:c.2410-3351= XM_047426441.1:c.2410-3351C>T
PLEKHA7 transcript variant X31 XM_047426444.1:c.2410-3351= XM_047426444.1:c.2410-3351C>T
PLEKHA7 transcript variant X34 XM_047426447.1:c.2272-3351= XM_047426447.1:c.2272-3351C>T
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738826175 Nov 08, 2017 (151)
2 GNOMAD ss4230785653 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000011.10 - 16794553 Apr 26, 2021 (155)
4 gnomAD - Exomes NC_000011.9 - 16816100 Jul 13, 2019 (153)
5 ALFA NC_000011.10 - 16794553 Apr 26, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8036629, ss2738826175 NC_000011.9:16816099:G:A NC_000011.10:16794552:G:A (self)
372529838, 8126954619, ss4230785653 NC_000011.10:16794552:G:A NC_000011.10:16794552:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1483929196

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d