SNP Links for Protein (Select 767926135) - SNP

Links from Protein

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Select item 14903341931.

rs1490334193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129606559 (GRCh38)
3:129325402 (GRCh37)
Canonical SPDI:: NC_000003.12:129606558:C:T
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129606559C>T, NC_000003.11:g.129325402C>T, XM_011512588.3:c.81G>A, XM_011512588.2:c.81G>A, XM_011512588.1:c.81G>A, NM_015103.3:c.81G>A, NM_015103.2:c.81G>A, XM_011512590.3:c.81G>A, XM_011512590.2:c.81G>A, XM_011512590.1:c.81G>A, XM_011512589.2:c.81G>A, XM_011512589.1:c.81G>A, XM_047447765.1:c.81G>A, XM_047447766.1:c.81G>A

Select item 14898418692.

rs1489841869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129605977 (GRCh38)
3:129324820 (GRCh37)
Canonical SPDI:: NC_000003.12:129605976:G:A
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129605977G>A, NC_000003.11:g.129324820G>A, XM_011512588.3:c.663C>T, XM_011512588.2:c.663C>T, XM_011512588.1:c.663C>T, NM_015103.3:c.663C>T, NM_015103.2:c.663C>T, XM_011512590.3:c.663C>T, XM_011512590.2:c.663C>T, XM_011512590.1:c.663C>T, XM_011512589.2:c.663C>T, XM_011512589.1:c.663C>T, XM_047447765.1:c.663C>T, XM_047447766.1:c.663C>T

Select item 14895950403.

rs1489595040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129589485 (GRCh38)
3:129308328 (GRCh37)
Canonical SPDI:: NC_000003.12:129589484:G:A
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129589485G>A, NC_000003.11:g.129308328G>A, XM_011512588.3:c.1354C>T, XM_011512588.2:c.1354C>T, XM_011512588.1:c.1354C>T, NM_015103.3:c.1354C>T, NM_015103.2:c.1354C>T, XM_011512590.3:c.1354C>T, XM_011512590.2:c.1354C>T, XM_011512590.1:c.1354C>T, XM_011512589.2:c.1354C>T, XM_011512589.1:c.1354C>T, XM_047447765.1:c.1354C>T, XM_047447766.1:c.1354C>T, XP_011510890.1:p.His452Tyr, NP_055918.3:p.His452Tyr, XP_011510892.1:p.His452Tyr, XP_011510891.1:p.His452Tyr, XP_047303721.1:p.His452Tyr, XP_047303722.1:p.His452Tyr

Select item 14881179434.

rs1488117943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:129605329 (GRCh38)
3:129324172 (GRCh37)
Canonical SPDI:: NC_000003.12:129605328:C:A
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.129605329C>A, NC_000003.11:g.129324172C>A, XM_011512588.3:c.1311G>T, XM_011512588.2:c.1311G>T, XM_011512588.1:c.1311G>T, NM_015103.3:c.1311G>T, NM_015103.2:c.1311G>T, XM_011512590.3:c.1311G>T, XM_011512590.2:c.1311G>T, XM_011512590.1:c.1311G>T, XM_011512589.2:c.1311G>T, XM_011512589.1:c.1311G>T, XM_047447765.1:c.1311G>T, XM_047447766.1:c.1311G>T, XP_011510890.1:p.Gln437His, NP_055918.3:p.Gln437His, XP_011510892.1:p.Gln437His, XP_011510891.1:p.Gln437His, XP_047303721.1:p.Gln437His, XP_047303722.1:p.Gln437His

Select item 14881036135.

rs1488103613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129574365 (GRCh38)
3:129293208 (GRCh37)
Canonical SPDI:: NC_000003.12:129574364:C:T
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.129574365C>T, NC_000003.11:g.129293208C>T, XM_011512588.3:c.2656G>A, XM_011512588.2:c.2656G>A, XM_011512588.1:c.2656G>A, NM_015103.3:c.2656G>A, NM_015103.2:c.2656G>A, XM_011512590.3:c.2656G>A, XM_011512590.2:c.2656G>A, XM_011512590.1:c.2656G>A, XM_011512589.2:c.2266G>A, XM_011512589.1:c.2266G>A, XM_047447765.1:c.2656G>A, XM_047447766.1:c.2656G>A, XP_011510890.1:p.Gly886Ser, NP_055918.3:p.Gly886Ser, XP_011510892.1:p.Gly886Ser, XP_011510891.1:p.Gly756Ser, XP_047303721.1:p.Gly886Ser, XP_047303722.1:p.Gly886Ser

Select item 14880876416.

rs1488087641 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:129560706 (GRCh38)
3:129279549 (GRCh37)
Canonical SPDI:: NC_000003.12:129560702:TCTCT:TCT
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129560704CT[1], NC_000003.11:g.129279547CT[1], XM_011512588.3:c.5013_5014del, XM_011512588.2:c.5013_5014del, XM_011512588.1:c.5013_5014del, NM_015103.3:c.5013_5014del, NM_015103.2:c.5013_5014del, XM_011512589.2:c.4623_4624del, XM_011512589.1:c.4623_4624del, XM_047447765.1:c.5013_5014del, XM_011512592.1:c.2181_2182del, XP_011510890.1:p.Lys1672fs, NP_055918.3:p.Lys1672fs, XP_011510891.1:p.Lys1542fs, XP_047303721.1:p.Lys1672fs, XP_011510894.1:p.Lys728fs

Select item 14868106977.

rs1486810697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129605936 (GRCh38)
3:129324779 (GRCh37)
Canonical SPDI:: NC_000003.12:129605935:G:A
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129605936G>A, NC_000003.11:g.129324779G>A, XM_011512588.3:c.704C>T, XM_011512588.2:c.704C>T, XM_011512588.1:c.704C>T, NM_015103.3:c.704C>T, NM_015103.2:c.704C>T, XM_011512590.3:c.704C>T, XM_011512590.2:c.704C>T, XM_011512590.1:c.704C>T, XM_011512589.2:c.704C>T, XM_011512589.1:c.704C>T, XM_047447765.1:c.704C>T, XM_047447766.1:c.704C>T, XP_011510890.1:p.Thr235Met, NP_055918.3:p.Thr235Met, XP_011510892.1:p.Thr235Met, XP_011510891.1:p.Thr235Met, XP_047303721.1:p.Thr235Met, XP_047303722.1:p.Thr235Met

Select item 14864584408.

rs1486458440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129605550 (GRCh38)
3:129324393 (GRCh37)
Canonical SPDI:: NC_000003.12:129605549:C:T
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.129605550C>T, NC_000003.11:g.129324393C>T, XM_011512588.3:c.1090G>A, XM_011512588.2:c.1090G>A, XM_011512588.1:c.1090G>A, NM_015103.3:c.1090G>A, NM_015103.2:c.1090G>A, XM_011512590.3:c.1090G>A, XM_011512590.2:c.1090G>A, XM_011512590.1:c.1090G>A, XM_011512589.2:c.1090G>A, XM_011512589.1:c.1090G>A, XM_047447765.1:c.1090G>A, XM_047447766.1:c.1090G>A, XP_011510890.1:p.Ala364Thr, NP_055918.3:p.Ala364Thr, XP_011510892.1:p.Ala364Thr, XP_011510891.1:p.Ala364Thr, XP_047303721.1:p.Ala364Thr, XP_047303722.1:p.Ala364Thr

Select item 14856307029.

rs1485630702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:129571287 (GRCh38)
3:129290130 (GRCh37)
Canonical SPDI:: NC_000003.12:129571286:T:G
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129571287T>G, NC_000003.11:g.129290130T>G, XM_011512588.3:c.3353A>C, XM_011512588.2:c.3353A>C, XM_011512588.1:c.3353A>C, NM_015103.3:c.3353A>C, NM_015103.2:c.3353A>C, XM_011512590.3:c.3353A>C, XM_011512590.2:c.3353A>C, XM_011512590.1:c.3353A>C, XM_011512589.2:c.2963A>C, XM_011512589.1:c.2963A>C, XM_047447765.1:c.3353A>C, XM_011512592.1:c.521A>C, XP_011510890.1:p.Asn1118Thr, NP_055918.3:p.Asn1118Thr, XP_011510892.1:p.Asn1118Thr, XP_011510891.1:p.Asn988Thr, XP_047303721.1:p.Asn1118Thr, XP_011510894.1:p.Asn174Thr

Select item 148551530710.

rs1485515307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:129572657 (GRCh38)
3:129291500 (GRCh37)
Canonical SPDI:: NC_000003.12:129572656:G:C
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129572657G>C, NC_000003.11:g.129291500G>C, XM_011512588.3:c.3029C>G, XM_011512588.2:c.3029C>G, XM_011512588.1:c.3029C>G, NM_015103.3:c.3029C>G, NM_015103.2:c.3029C>G, XM_011512590.3:c.3029C>G, XM_011512590.2:c.3029C>G, XM_011512590.1:c.3029C>G, XM_011512589.2:c.2639C>G, XM_011512589.1:c.2639C>G, XM_047447765.1:c.3029C>G, XM_011512592.1:c.197C>G, XM_047447766.1:c.*126C>G, XP_011510890.1:p.Ser1010Cys, NP_055918.3:p.Ser1010Cys, XP_011510892.1:p.Ser1010Cys, XP_011510891.1:p.Ser880Cys, XP_047303721.1:p.Ser1010Cys, XP_011510894.1:p.Ser66Cys

Select item 148481996711.

rs1484819967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:129605867 (GRCh38)
3:129324710 (GRCh37)
Canonical SPDI:: NC_000003.12:129605866:T:A,NC_000003.12:129605866:T:C
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000003.12:g.129605867T>A, NC_000003.12:g.129605867T>C, NC_000003.11:g.129324710T>A, NC_000003.11:g.129324710T>C, XM_011512588.3:c.773A>T, XM_011512588.3:c.773A>G, XM_011512588.2:c.773A>T, XM_011512588.2:c.773A>G, XM_011512588.1:c.773A>T, XM_011512588.1:c.773A>G, NM_015103.3:c.773A>T, NM_015103.3:c.773A>G, NM_015103.2:c.773A>T, NM_015103.2:c.773A>G, XM_011512590.3:c.773A>T, XM_011512590.3:c.773A>G, XM_011512590.2:c.773A>T, XM_011512590.2:c.773A>G, XM_011512590.1:c.773A>T, XM_011512590.1:c.773A>G, XM_011512589.2:c.773A>T, XM_011512589.2:c.773A>G, XM_011512589.1:c.773A>T, XM_011512589.1:c.773A>G, XM_047447765.1:c.773A>T, XM_047447765.1:c.773A>G, XM_047447766.1:c.773A>T, XM_047447766.1:c.773A>G, XP_011510890.1:p.Asn258Ile, XP_011510890.1:p.Asn258Ser, NP_055918.3:p.Asn258Ile, NP_055918.3:p.Asn258Ser, XP_011510892.1:p.Asn258Ile, XP_011510892.1:p.Asn258Ser, XP_011510891.1:p.Asn258Ile, XP_011510891.1:p.Asn258Ser, XP_047303721.1:p.Asn258Ile, XP_047303721.1:p.Asn258Ser, XP_047303722.1:p.Asn258Ile, XP_047303722.1:p.Asn258Ser

Select item 148458830912.

rs1484588309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129605643 (GRCh38)
3:129324486 (GRCh37)
Canonical SPDI:: NC_000003.12:129605642:T:C
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129605643T>C, NC_000003.11:g.129324486T>C, XM_011512588.3:c.997A>G, XM_011512588.2:c.997A>G, XM_011512588.1:c.997A>G, NM_015103.3:c.997A>G, NM_015103.2:c.997A>G, XM_011512590.3:c.997A>G, XM_011512590.2:c.997A>G, XM_011512590.1:c.997A>G, XM_011512589.2:c.997A>G, XM_011512589.1:c.997A>G, XM_047447765.1:c.997A>G, XM_047447766.1:c.997A>G, XP_011510890.1:p.Lys333Glu, NP_055918.3:p.Lys333Glu, XP_011510892.1:p.Lys333Glu, XP_011510891.1:p.Lys333Glu, XP_047303721.1:p.Lys333Glu, XP_047303722.1:p.Lys333Glu

Select item 148452900913.

rs1484529009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129571750 (GRCh38)
3:129290593 (GRCh37)
Canonical SPDI:: NC_000003.12:129571749:G:T
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129571750G>T, NC_000003.11:g.129290593G>T, XM_011512588.3:c.3172C>A, XM_011512588.2:c.3172C>A, XM_011512588.1:c.3172C>A, NM_015103.3:c.3172C>A, NM_015103.2:c.3172C>A, XM_011512590.3:c.3172C>A, XM_011512590.2:c.3172C>A, XM_011512590.1:c.3172C>A, XM_011512589.2:c.2782C>A, XM_011512589.1:c.2782C>A, XM_047447765.1:c.3172C>A, XM_011512592.1:c.340C>A, XP_011510890.1:p.His1058Asn, NP_055918.3:p.His1058Asn, XP_011510892.1:p.His1058Asn, XP_011510891.1:p.His928Asn, XP_047303721.1:p.His1058Asn, XP_011510894.1:p.His114Asn

Select item 148430311714.

rs1484303117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:129605563 (GRCh38)
3:129324406 (GRCh37)
Canonical SPDI:: NC_000003.12:129605562:C:A
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129605563C>A, NC_000003.11:g.129324406C>A, XM_011512588.3:c.1077G>T, XM_011512588.2:c.1077G>T, XM_011512588.1:c.1077G>T, NM_015103.3:c.1077G>T, NM_015103.2:c.1077G>T, XM_011512590.3:c.1077G>T, XM_011512590.2:c.1077G>T, XM_011512590.1:c.1077G>T, XM_011512589.2:c.1077G>T, XM_011512589.1:c.1077G>T, XM_047447765.1:c.1077G>T, XM_047447766.1:c.1077G>T

Select item 148416333115.

rs1484163331 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:129606519 (GRCh38)
3:129325362 (GRCh37)
Canonical SPDI:: NC_000003.12:129606518:CCCCC:CCCC
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.129606523del, NC_000003.11:g.129325366del, XM_011512588.3:c.121del, XM_011512588.2:c.121del, XM_011512588.1:c.121del, NM_015103.3:c.121del, NM_015103.2:c.121del, XM_011512590.3:c.121del, XM_011512590.2:c.121del, XM_011512590.1:c.121del, XM_011512589.2:c.121del, XM_011512589.1:c.121del, XM_047447765.1:c.121del, XM_047447766.1:c.121del, XP_011510890.1:p.Ala41fs, NP_055918.3:p.Ala41fs, XP_011510892.1:p.Ala41fs, XP_011510891.1:p.Ala41fs, XP_047303721.1:p.Ala41fs, XP_047303722.1:p.Ala41fs

Select item 148318611016.

rs1483186110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129606196 (GRCh38)
3:129325039 (GRCh37)
Canonical SPDI:: NC_000003.12:129606195:G:T
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.129606196G>T, NC_000003.11:g.129325039G>T, XM_011512588.3:c.444C>A, XM_011512588.2:c.444C>A, XM_011512588.1:c.444C>A, NM_015103.3:c.444C>A, NM_015103.2:c.444C>A, XM_011512590.3:c.444C>A, XM_011512590.2:c.444C>A, XM_011512590.1:c.444C>A, XM_011512589.2:c.444C>A, XM_011512589.1:c.444C>A, XM_047447765.1:c.444C>A, XM_047447766.1:c.444C>A, XP_011510890.1:p.Cys148Ter, NP_055918.3:p.Cys148Ter, XP_011510892.1:p.Cys148Ter, XP_011510891.1:p.Cys148Ter, XP_047303721.1:p.Cys148Ter, XP_047303722.1:p.Cys148Ter

Select item 148262376817.

rs1482623768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129569923 (GRCh38)
3:129288766 (GRCh37)
Canonical SPDI:: NC_000003.12:129569922:G:A
Gene:: PLXND1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.129569923G>A, NC_000003.11:g.129288766G>A, XM_011512588.3:c.3785C>T, XM_011512588.2:c.3785C>T, XM_011512588.1:c.3785C>T, NM_015103.3:c.3785C>T, NM_015103.2:c.3785C>T, XM_011512590.3:c.3785C>T, XM_011512590.2:c.3785C>T, XM_011512590.1:c.3785C>T, XM_011512589.2:c.3395C>T, XM_011512589.1:c.3395C>T, XM_047447765.1:c.3785C>T, XM_011512592.1:c.953C>T, XP_011510890.1:p.Thr1262Ile, NP_055918.3:p.Thr1262Ile, XP_011510892.1:p.Thr1262Ile, XP_011510891.1:p.Thr1132Ile, XP_047303721.1:p.Thr1262Ile, XP_011510894.1:p.Thr318Ile

Select item 148093469118.

rs1480934691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129562791 (GRCh38)
3:129281634 (GRCh37)
Canonical SPDI:: NC_000003.12:129562790:G:T
Gene:: PLXND1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.129562791G>T, NC_000003.11:g.129281634G>T, XM_011512588.3:c.4821C>A, XM_011512588.2:c.4821C>A, XM_011512588.1:c.4821C>A, NM_015103.3:c.4821C>A, NM_015103.2:c.4821C>A, XM_011512589.2:c.4431C>A, XM_011512589.1:c.4431C>A, XM_047447765.1:c.4821C>A, XM_011512592.1:c.1989C>A, XP_011510890.1:p.Asp1607Glu, NP_055918.3:p.Asp1607Glu, XP_011510891.1:p.Asp1477Glu, XP_047303721.1:p.Asp1607Glu, XP_011510894.1:p.Asp663Glu

Select item 148031201919.

rs1480312019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:129606623 (GRCh38)
3:129325466 (GRCh37)
Canonical SPDI:: NC_000003.12:129606622:G:C,NC_000003.12:129606622:G:T
Gene:: PLXND1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000003.12:g.129606623G>C, NC_000003.12:g.129606623G>T, NC_000003.11:g.129325466G>C, NC_000003.11:g.129325466G>T, XM_011512588.3:c.17C>G, XM_011512588.3:c.17C>A, XM_011512588.2:c.17C>G, XM_011512588.2:c.17C>A, XM_011512588.1:c.17C>G, XM_011512588.1:c.17C>A, NM_015103.3:c.17C>G, NM_015103.3:c.17C>A, NM_015103.2:c.17C>G, NM_015103.2:c.17C>A, XM_011512590.3:c.17C>G, XM_011512590.3:c.17C>A, XM_011512590.2:c.17C>G, XM_011512590.2:c.17C>A, XM_011512590.1:c.17C>G, XM_011512590.1:c.17C>A, XM_011512589.2:c.17C>G, XM_011512589.2:c.17C>A, XM_011512589.1:c.17C>G, XM_011512589.1:c.17C>A, XM_047447765.1:c.17C>G, XM_047447765.1:c.17C>A, XM_047447766.1:c.17C>G, XM_047447766.1:c.17C>A, XP_011510890.1:p.Ala6Gly, XP_011510890.1:p.Ala6Glu, NP_055918.3:p.Ala6Gly, NP_055918.3:p.Ala6Glu, XP_011510892.1:p.Ala6Gly, XP_011510892.1:p.Ala6Glu, XP_011510891.1:p.Ala6Gly, XP_011510891.1:p.Ala6Glu, XP_047303721.1:p.Ala6Gly, XP_047303721.1:p.Ala6Glu, XP_047303722.1:p.Ala6Gly, XP_047303722.1:p.Ala6Glu

Select item 147927032620.

rs1479270326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129571817 (GRCh38)
3:129290660 (GRCh37)
Canonical SPDI:: NC_000003.12:129571816:G:A
Gene:: PLXND1 (Varview)
Functional Consequence:: genic_downstream_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=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.129571817G>A, NC_000003.11:g.129290660G>A, XM_011512588.3:c.3105C>T, XM_011512588.2:c.3105C>T, XM_011512588.1:c.3105C>T, NM_015103.3:c.3105C>T, NM_015103.2:c.3105C>T, XM_011512590.3:c.3105C>T, XM_011512590.2:c.3105C>T, XM_011512590.1:c.3105C>T, XM_011512589.2:c.2715C>T, XM_011512589.1:c.2715C>T, XM_047447765.1:c.3105C>T, XM_011512592.1:c.273C>T

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