SNP Links for Protein (Select 359751481) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 121

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Select item 14770514481.

rs1477051448 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:132077550 (GRCh38)
9:134952938 (GRCh37)
Canonical SPDI:: NC_000009.12:132077550:GG:GGG
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.132077552dup, NC_000009.11:g.134952939dup, XM_005272236.4:c.239dup, XM_005272236.3:c.239dup, XM_005272236.2:c.239dup, XM_005272236.1:c.239dup, NM_004269.4:c.239dup, NM_004269.3:c.239dup, XM_017015330.3:c.239dup, XM_017015330.2:c.239dup, XM_017015330.1:c.239dup, XM_017015329.2:c.239dup, XM_017015329.1:c.239dup, NM_001253881.2:c.239dup, NM_001253881.1:c.239dup, NM_001253882.2:c.239dup, NM_001253882.1:c.239dup, XP_005272293.1:p.Ser81fs, NP_004260.2:p.Ser81fs, XP_016870819.1:p.Ser81fs, XP_016870818.1:p.Ser81fs, NP_001240810.1:p.Ser81fs, NP_001240811.1:p.Ser81fs

Select item 14667357102.

rs1466735710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:132077580 (GRCh38)
9:134952967 (GRCh37)
Canonical SPDI:: NC_000009.12:132077579:C:G
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.132077580C>G, NC_000009.11:g.134952967C>G, XM_005272236.4:c.210G>C, XM_005272236.3:c.210G>C, XM_005272236.2:c.210G>C, XM_005272236.1:c.210G>C, NM_004269.4:c.210G>C, NM_004269.3:c.210G>C, XM_017015330.3:c.210G>C, XM_017015330.2:c.210G>C, XM_017015330.1:c.210G>C, XM_017015329.2:c.210G>C, XM_017015329.1:c.210G>C, NM_001253881.2:c.210G>C, NM_001253881.1:c.210G>C, NM_001253882.2:c.210G>C, NM_001253882.1:c.210G>C

Select item 14604107853.

rs1460410785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:132079836 (GRCh38)
9:134955223 (GRCh37)
Canonical SPDI:: NC_000009.12:132079835:G:T
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.132079836G>T, NC_000009.11:g.134955223G>T, XM_005272236.4:c.9C>A, XM_005272236.3:c.9C>A, XM_005272236.2:c.9C>A, XM_005272236.1:c.9C>A, NM_004269.4:c.9C>A, NM_004269.3:c.9C>A, XM_017015330.3:c.9C>A, XM_017015330.2:c.9C>A, XM_017015330.1:c.9C>A, XM_017015329.2:c.9C>A, XM_017015329.1:c.9C>A, NM_001253881.2:c.9C>A, NM_001253881.1:c.9C>A, NM_001253882.2:c.9C>A, NM_001253882.1:c.9C>A, XP_005272293.1:p.Asp3Glu, NP_004260.2:p.Asp3Glu, XP_016870819.1:p.Asp3Glu, XP_016870818.1:p.Asp3Glu, NP_001240810.1:p.Asp3Glu, NP_001240811.1:p.Asp3Glu

Select item 14603347954.

rs1460334795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:132079677 (GRCh38)
9:134955064 (GRCh37)
Canonical SPDI:: NC_000009.12:132079676:G:A
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.132079677G>A, NC_000009.11:g.134955064G>A, XM_005272236.4:c.168C>T, XM_005272236.3:c.168C>T, XM_005272236.2:c.168C>T, XM_005272236.1:c.168C>T, NM_004269.4:c.168C>T, NM_004269.3:c.168C>T, XM_017015330.3:c.168C>T, XM_017015330.2:c.168C>T, XM_017015330.1:c.168C>T, XM_017015329.2:c.168C>T, XM_017015329.1:c.168C>T, NM_001253881.2:c.168C>T, NM_001253881.1:c.168C>T, NM_001253882.2:c.168C>T, NM_001253882.1:c.168C>T

Select item 14585392085.

rs1458539208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:132079826 (GRCh38)
9:134955213 (GRCh37)
Canonical SPDI:: NC_000009.12:132079825:C:G
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.132079826C>G, NC_000009.11:g.134955213C>G, XM_005272236.4:c.19G>C, XM_005272236.3:c.19G>C, XM_005272236.2:c.19G>C, XM_005272236.1:c.19G>C, NM_004269.4:c.19G>C, NM_004269.3:c.19G>C, XM_017015330.3:c.19G>C, XM_017015330.2:c.19G>C, XM_017015330.1:c.19G>C, XM_017015329.2:c.19G>C, XM_017015329.1:c.19G>C, NM_001253881.2:c.19G>C, NM_001253881.1:c.19G>C, NM_001253882.2:c.19G>C, NM_001253882.1:c.19G>C, XP_005272293.1:p.Val7Leu, NP_004260.2:p.Val7Leu, XP_016870819.1:p.Val7Leu, XP_016870818.1:p.Val7Leu, NP_001240810.1:p.Val7Leu, NP_001240811.1:p.Val7Leu

Select item 14571036326.

rs1457103632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:132077448 (GRCh38)
9:134952835 (GRCh37)
Canonical SPDI:: NC_000009.12:132077447:T:A
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.132077448T>A, NC_000009.11:g.134952835T>A, XM_005272236.4:c.342A>T, XM_005272236.3:c.342A>T, XM_005272236.2:c.342A>T, XM_005272236.1:c.342A>T, NM_004269.4:c.342A>T, NM_004269.3:c.342A>T, XM_017015330.3:c.342A>T, XM_017015330.2:c.342A>T, XM_017015330.1:c.342A>T, XM_017015329.2:c.342A>T, XM_017015329.1:c.342A>T, NM_001253881.2:c.342A>T, NM_001253881.1:c.342A>T, NM_001253882.2:c.342A>T, NM_001253882.1:c.342A>T

Select item 14504387147.

rs1450438714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:132079683 (GRCh38)
9:134955070 (GRCh37)
Canonical SPDI:: NC_000009.12:132079682:C:A
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.132079683C>A, NC_000009.11:g.134955070C>A, XM_005272236.4:c.162G>T, XM_005272236.3:c.162G>T, XM_005272236.2:c.162G>T, XM_005272236.1:c.162G>T, NM_004269.4:c.162G>T, NM_004269.3:c.162G>T, XM_017015330.3:c.162G>T, XM_017015330.2:c.162G>T, XM_017015330.1:c.162G>T, XM_017015329.2:c.162G>T, XM_017015329.1:c.162G>T, NM_001253881.2:c.162G>T, NM_001253881.1:c.162G>T, NM_001253882.2:c.162G>T, NM_001253882.1:c.162G>T

Select item 14449728988.

rs1444972898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:132077471 (GRCh38)
9:134952858 (GRCh37)
Canonical SPDI:: NC_000009.12:132077470:G:C
Gene:: MED27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.132077471G>C, NC_000009.11:g.134952858G>C, XM_005272236.4:c.319C>G, XM_005272236.3:c.319C>G, XM_005272236.2:c.319C>G, XM_005272236.1:c.319C>G, NM_004269.4:c.319C>G, NM_004269.3:c.319C>G, XM_017015330.3:c.319C>G, XM_017015330.2:c.319C>G, XM_017015330.1:c.319C>G, XM_017015329.2:c.319C>G, XM_017015329.1:c.319C>G, NM_001253881.2:c.319C>G, NM_001253881.1:c.319C>G, NM_001253882.2:c.319C>G, NM_001253882.1:c.319C>G, XP_005272293.1:p.Leu107Val, NP_004260.2:p.Leu107Val, XP_016870819.1:p.Leu107Val, XP_016870818.1:p.Leu107Val, NP_001240810.1:p.Leu107Val, NP_001240811.1:p.Leu107Val

Select item 14447299139.

rs1444729913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:132079793 (GRCh38)
9:134955180 (GRCh37)
Canonical SPDI:: NC_000009.12:132079792:T:C
Gene:: MED27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.132079793T>C, NC_000009.11:g.134955180T>C, XM_005272236.4:c.52A>G, XM_005272236.3:c.52A>G, XM_005272236.2:c.52A>G, XM_005272236.1:c.52A>G, NM_004269.4:c.52A>G, NM_004269.3:c.52A>G, XM_017015330.3:c.52A>G, XM_017015330.2:c.52A>G, XM_017015330.1:c.52A>G, XM_017015329.2:c.52A>G, XM_017015329.1:c.52A>G, NM_001253881.2:c.52A>G, NM_001253881.1:c.52A>G, NM_001253882.2:c.52A>G, NM_001253882.1:c.52A>G, XP_005272293.1:p.Ile18Val, NP_004260.2:p.Ile18Val, XP_016870819.1:p.Ile18Val, XP_016870818.1:p.Ile18Val, NP_001240810.1:p.Ile18Val, NP_001240811.1:p.Ile18Val

Select item 143535242510.

rs1435352425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:132073732 (GRCh38)
9:134949119 (GRCh37)
Canonical SPDI:: NC_000009.12:132073731:A:G
Gene:: MED27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.132073732A>G, NC_000009.11:g.134949119A>G, NM_001253882.2:c.359T>C, NM_001253882.1:c.359T>C, NP_001240811.1:p.Leu120Pro

Select item 143020563811.

rs1430205638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132077553 (GRCh38)
9:134952940 (GRCh37)
Canonical SPDI:: NC_000009.12:132077552:C:T
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.132077553C>T, NC_000009.11:g.134952940C>T, XM_005272236.4:c.237G>A, XM_005272236.3:c.237G>A, XM_005272236.2:c.237G>A, XM_005272236.1:c.237G>A, NM_004269.4:c.237G>A, NM_004269.3:c.237G>A, XM_017015330.3:c.237G>A, XM_017015330.2:c.237G>A, XM_017015330.1:c.237G>A, XM_017015329.2:c.237G>A, XM_017015329.1:c.237G>A, NM_001253881.2:c.237G>A, NM_001253881.1:c.237G>A, NM_001253882.2:c.237G>A, NM_001253882.1:c.237G>A

Select item 141912052412.

rs1419120524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:132073714 (GRCh38)
9:134949101 (GRCh37)
Canonical SPDI:: NC_000009.12:132073713:A:G
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.132073714A>G, NC_000009.11:g.134949101A>G, NM_001253882.2:c.377T>C, NM_001253882.1:c.377T>C, NP_001240811.1:p.Phe126Ser

Select item 141910155513.

rs1419101555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:132079824 (GRCh38)
9:134955211 (GRCh37)
Canonical SPDI:: NC_000009.12:132079823:G:A,NC_000009.12:132079823:G:C
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.132079824G>A, NC_000009.12:g.132079824G>C, NC_000009.11:g.134955211G>A, NC_000009.11:g.134955211G>C, XM_005272236.4:c.21C>T, XM_005272236.4:c.21C>G, XM_005272236.3:c.21C>T, XM_005272236.3:c.21C>G, XM_005272236.2:c.21C>T, XM_005272236.2:c.21C>G, XM_005272236.1:c.21C>T, XM_005272236.1:c.21C>G, NM_004269.4:c.21C>T, NM_004269.4:c.21C>G, NM_004269.3:c.21C>T, NM_004269.3:c.21C>G, XM_017015330.3:c.21C>T, XM_017015330.3:c.21C>G, XM_017015330.2:c.21C>T, XM_017015330.2:c.21C>G, XM_017015330.1:c.21C>T, XM_017015330.1:c.21C>G, XM_017015329.2:c.21C>T, XM_017015329.2:c.21C>G, XM_017015329.1:c.21C>T, XM_017015329.1:c.21C>G, NM_001253881.2:c.21C>T, NM_001253881.2:c.21C>G, NM_001253881.1:c.21C>T, NM_001253881.1:c.21C>G, NM_001253882.2:c.21C>T, NM_001253882.2:c.21C>G, NM_001253882.1:c.21C>T, NM_001253882.1:c.21C>G

Select item 140732457714.

rs1407324577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132077454 (GRCh38)
9:134952841 (GRCh37)
Canonical SPDI:: NC_000009.12:132077453:C:T
Gene:: MED27 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.132077454C>T, NC_000009.11:g.134952841C>T, XM_005272236.4:c.336G>A, XM_005272236.3:c.336G>A, XM_005272236.2:c.336G>A, XM_005272236.1:c.336G>A, NM_004269.4:c.336G>A, NM_004269.3:c.336G>A, XM_017015330.3:c.336G>A, XM_017015330.2:c.336G>A, XM_017015330.1:c.336G>A, XM_017015329.2:c.336G>A, XM_017015329.1:c.336G>A, NM_001253881.2:c.336G>A, NM_001253881.1:c.336G>A, NM_001253882.2:c.336G>A, NM_001253882.1:c.336G>A

Select item 140182903615.

rs1401829036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132077442 (GRCh38)
9:134952829 (GRCh37)
Canonical SPDI:: NC_000009.12:132077441:C:T
Gene:: MED27 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.132077442C>T, NC_000009.11:g.134952829C>T, XM_005272236.4:c.348G>A, XM_005272236.3:c.348G>A, XM_005272236.2:c.348G>A, XM_005272236.1:c.348G>A, NM_004269.4:c.348G>A, NM_004269.3:c.348G>A, XM_017015330.3:c.348G>A, XM_017015330.2:c.348G>A, XM_017015330.1:c.348G>A, XM_017015329.2:c.348G>A, XM_017015329.1:c.348G>A, NM_001253881.2:c.348G>A, NM_001253881.1:c.348G>A, NM_001253882.2:c.348G>A, NM_001253882.1:c.348G>A

Select item 140029665316.

rs1400296653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132077571 (GRCh38)
9:134952958 (GRCh37)
Canonical SPDI:: NC_000009.12:132077570:C:T
Gene:: MED27 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.132077571C>T, NC_000009.11:g.134952958C>T, XM_005272236.4:c.219G>A, XM_005272236.3:c.219G>A, XM_005272236.2:c.219G>A, XM_005272236.1:c.219G>A, NM_004269.4:c.219G>A, NM_004269.3:c.219G>A, XM_017015330.3:c.219G>A, XM_017015330.2:c.219G>A, XM_017015330.1:c.219G>A, XM_017015329.2:c.219G>A, XM_017015329.1:c.219G>A, NM_001253881.2:c.219G>A, NM_001253881.1:c.219G>A, NM_001253882.2:c.219G>A, NM_001253882.1:c.219G>A

Select item 137677943817.

rs1376779438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:132077483 (GRCh38)
9:134952870 (GRCh37)
Canonical SPDI:: NC_000009.12:132077482:G:A
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.132077483G>A, NC_000009.11:g.134952870G>A, XM_005272236.4:c.307C>T, XM_005272236.3:c.307C>T, XM_005272236.2:c.307C>T, XM_005272236.1:c.307C>T, NM_004269.4:c.307C>T, NM_004269.3:c.307C>T, XM_017015330.3:c.307C>T, XM_017015330.2:c.307C>T, XM_017015330.1:c.307C>T, XM_017015329.2:c.307C>T, XM_017015329.1:c.307C>T, NM_001253881.2:c.307C>T, NM_001253881.1:c.307C>T, NM_001253882.2:c.307C>T, NM_001253882.1:c.307C>T, XP_005272293.1:p.Leu103Phe, NP_004260.2:p.Leu103Phe, XP_016870819.1:p.Leu103Phe, XP_016870818.1:p.Leu103Phe, NP_001240810.1:p.Leu103Phe, NP_001240811.1:p.Leu103Phe

Select item 137500302518.

rs1375003025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:132079813 (GRCh38)
9:134955200 (GRCh37)
Canonical SPDI:: NC_000009.12:132079812:A:G
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.132079813A>G, NC_000009.11:g.134955200A>G, XM_005272236.4:c.32T>C, XM_005272236.3:c.32T>C, XM_005272236.2:c.32T>C, XM_005272236.1:c.32T>C, NM_004269.4:c.32T>C, NM_004269.3:c.32T>C, XM_017015330.3:c.32T>C, XM_017015330.2:c.32T>C, XM_017015330.1:c.32T>C, XM_017015329.2:c.32T>C, XM_017015329.1:c.32T>C, NM_001253881.2:c.32T>C, NM_001253881.1:c.32T>C, NM_001253882.2:c.32T>C, NM_001253882.1:c.32T>C, XP_005272293.1:p.Leu11Pro, NP_004260.2:p.Leu11Pro, XP_016870819.1:p.Leu11Pro, XP_016870818.1:p.Leu11Pro, NP_001240810.1:p.Leu11Pro, NP_001240811.1:p.Leu11Pro

Select item 136567799219.

rs1365677992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:132079667 (GRCh38)
9:134955054 (GRCh37)
Canonical SPDI:: NC_000009.12:132079666:A:C
Gene:: MED27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.132079667A>C, NC_000009.11:g.134955054A>C, XM_005272236.4:c.178T>G, XM_005272236.3:c.178T>G, XM_005272236.2:c.178T>G, XM_005272236.1:c.178T>G, NM_004269.4:c.178T>G, NM_004269.3:c.178T>G, XM_017015330.3:c.178T>G, XM_017015330.2:c.178T>G, XM_017015330.1:c.178T>G, XM_017015329.2:c.178T>G, XM_017015329.1:c.178T>G, NM_001253881.2:c.178T>G, NM_001253881.1:c.178T>G, NM_001253882.2:c.178T>G, NM_001253882.1:c.178T>G, XP_005272293.1:p.Leu60Val, NP_004260.2:p.Leu60Val, XP_016870819.1:p.Leu60Val, XP_016870818.1:p.Leu60Val, NP_001240810.1:p.Leu60Val, NP_001240811.1:p.Leu60Val

Select item 136368692520.

rs1363686925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:132079818 (GRCh38)
9:134955205 (GRCh37)
Canonical SPDI:: NC_000009.12:132079817:C:G,NC_000009.12:132079817:C:T
Gene:: MED27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.132079818C>G, NC_000009.12:g.132079818C>T, NC_000009.11:g.134955205C>G, NC_000009.11:g.134955205C>T, XM_005272236.4:c.27G>C, XM_005272236.4:c.27G>A, XM_005272236.3:c.27G>C, XM_005272236.3:c.27G>A, XM_005272236.2:c.27G>C, XM_005272236.2:c.27G>A, XM_005272236.1:c.27G>C, XM_005272236.1:c.27G>A, NM_004269.4:c.27G>C, NM_004269.4:c.27G>A, NM_004269.3:c.27G>C, NM_004269.3:c.27G>A, XM_017015330.3:c.27G>C, XM_017015330.3:c.27G>A, XM_017015330.2:c.27G>C, XM_017015330.2:c.27G>A, XM_017015330.1:c.27G>C, XM_017015330.1:c.27G>A, XM_017015329.2:c.27G>C, XM_017015329.2:c.27G>A, XM_017015329.1:c.27G>C, XM_017015329.1:c.27G>A, NM_001253881.2:c.27G>C, NM_001253881.2:c.27G>A, NM_001253881.1:c.27G>C, NM_001253881.1:c.27G>A, NM_001253882.2:c.27G>C, NM_001253882.2:c.27G>A, NM_001253882.1:c.27G>C, NM_001253882.1:c.27G>A

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