SNP Links for Protein (Select 767937701) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 373

<< First< Prev

Page of 19

Next >Last >>

Select item 14889299371.

rs1488929937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141639931 (GRCh38)
5:141019498 (GRCh37)
Canonical SPDI:: NC_000005.10:141639930:C:T
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.141639931C>T, NC_000005.9:g.141019498C>T, NG_029678.2:g.1926G>A, XM_005268524.6:c.*1567G>A, XM_006714803.5:c.*1567G>A, NM_173828.5:c.515C>T, NM_173828.4:c.515C>T, XM_005268414.5:c.515C>T, XM_005268414.4:c.515C>T, XM_005268414.3:c.515C>T, XM_005268414.2:c.515C>T, XM_005268414.1:c.515C>T, XM_011537625.4:c.515C>T, XM_011537625.3:c.515C>T, XM_011537625.2:c.515C>T, XM_011537625.1:c.515C>T, NM_033449.3:c.*1567G>A, NM_033449.2:c.*1567G>A, XM_011537624.3:c.515C>T, XM_011537624.2:c.515C>T, XM_011537624.1:c.515C>T, NM_001130029.2:c.515C>T, NM_001130029.1:c.515C>T, XM_047417860.1:c.*1567G>A, XM_047417113.1:c.515C>T, NP_776189.3:p.Thr172Ile, XP_005268471.1:p.Thr172Ile, XP_011535927.1:p.Thr172Ile, XP_011535926.1:p.Thr172Ile, NP_001123501.1:p.Thr172Ile, XP_047273069.1:p.Thr172Ile

Select item 14888485192.

rs1488848519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141640213 (GRCh38)
5:141019780 (GRCh37)
Canonical SPDI:: NC_000005.10:141640212:C:T
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141640213C>T, NC_000005.9:g.141019780C>T, NG_029678.2:g.1644G>A, XM_005268524.6:c.*1285G>A, XM_006714803.5:c.*1285G>A, NM_173828.5:c.797C>T, NM_173828.4:c.797C>T, XM_005268414.5:c.797C>T, XM_005268414.4:c.797C>T, XM_005268414.3:c.797C>T, XM_005268414.2:c.797C>T, XM_005268414.1:c.797C>T, XM_011537625.4:c.797C>T, XM_011537625.3:c.797C>T, XM_011537625.2:c.797C>T, XM_011537625.1:c.797C>T, NM_033449.3:c.*1285G>A, NM_033449.2:c.*1285G>A, XM_011537624.3:c.797C>T, XM_011537624.2:c.797C>T, XM_011537624.1:c.797C>T, NM_001130029.2:c.797C>T, NM_001130029.1:c.797C>T, XM_047417860.1:c.*1285G>A, XM_047417113.1:c.797C>T, NP_776189.3:p.Ala266Val, XP_005268471.1:p.Ala266Val, XP_011535927.1:p.Ala266Val, XP_011535926.1:p.Ala266Val, NP_001123501.1:p.Ala266Val, XP_047273069.1:p.Ala266Val

Select item 14881687273.

rs1488168727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141639942 (GRCh38)
5:141019509 (GRCh37)
Canonical SPDI:: NC_000005.10:141639941:A:C
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.141639942A>C, NC_000005.9:g.141019509A>C, NG_029678.2:g.1915T>G, XM_005268524.6:c.*1556T>G, XM_006714803.5:c.*1556T>G, NM_173828.5:c.526A>C, NM_173828.4:c.526A>C, XM_005268414.5:c.526A>C, XM_005268414.4:c.526A>C, XM_005268414.3:c.526A>C, XM_005268414.2:c.526A>C, XM_005268414.1:c.526A>C, XM_011537625.4:c.526A>C, XM_011537625.3:c.526A>C, XM_011537625.2:c.526A>C, XM_011537625.1:c.526A>C, NM_033449.3:c.*1556T>G, NM_033449.2:c.*1556T>G, XM_011537624.3:c.526A>C, XM_011537624.2:c.526A>C, XM_011537624.1:c.526A>C, NM_001130029.2:c.526A>C, NM_001130029.1:c.526A>C, XM_047417860.1:c.*1556T>G, XM_047417113.1:c.526A>C, NP_776189.3:p.Lys176Gln, XP_005268471.1:p.Lys176Gln, XP_011535927.1:p.Lys176Gln, XP_011535926.1:p.Lys176Gln, NP_001123501.1:p.Lys176Gln, XP_047273069.1:p.Lys176Gln

Select item 14879759844.

rs1487975984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141640406 (GRCh38)
5:141019973 (GRCh37)
Canonical SPDI:: NC_000005.10:141640405:T:C
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141640406T>C, NC_000005.9:g.141019973T>C, NG_029678.2:g.1451A>G, XM_005268524.6:c.*1092A>G, XM_006714803.5:c.*1092A>G, XM_005268414.5:c.990T>C, XM_005268414.4:c.990T>C, XM_005268414.3:c.990T>C, XM_005268414.2:c.990T>C, XM_005268414.1:c.990T>C, XM_011537625.4:c.990T>C, XM_011537625.3:c.990T>C, XM_011537625.2:c.990T>C, XM_011537625.1:c.990T>C, NM_033449.3:c.*1092A>G, NM_033449.2:c.*1092A>G, XM_011537624.3:c.990T>C, XM_011537624.2:c.990T>C, XM_011537624.1:c.990T>C, XM_047417860.1:c.*1092A>G

Select item 14879419755.

rs1487941975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141640012 (GRCh38)
5:141019579 (GRCh37)
Canonical SPDI:: NC_000005.10:141640011:A:G
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.141640012A>G, NC_000005.9:g.141019579A>G, NG_029678.2:g.1845T>C, XM_005268524.6:c.*1486T>C, XM_006714803.5:c.*1486T>C, NM_173828.5:c.596A>G, NM_173828.4:c.596A>G, XM_005268414.5:c.596A>G, XM_005268414.4:c.596A>G, XM_005268414.3:c.596A>G, XM_005268414.2:c.596A>G, XM_005268414.1:c.596A>G, XM_011537625.4:c.596A>G, XM_011537625.3:c.596A>G, XM_011537625.2:c.596A>G, XM_011537625.1:c.596A>G, NM_033449.3:c.*1486T>C, NM_033449.2:c.*1486T>C, XM_011537624.3:c.596A>G, XM_011537624.2:c.596A>G, XM_011537624.1:c.596A>G, NM_001130029.2:c.596A>G, NM_001130029.1:c.596A>G, XM_047417860.1:c.*1486T>C, XM_047417113.1:c.596A>G, NP_776189.3:p.Gln199Arg, XP_005268471.1:p.Gln199Arg, XP_011535927.1:p.Gln199Arg, XP_011535926.1:p.Gln199Arg, NP_001123501.1:p.Gln199Arg, XP_047273069.1:p.Gln199Arg

Select item 14876161476.

rs1487616147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141640316 (GRCh38)
5:141019883 (GRCh37)
Canonical SPDI:: NC_000005.10:141640315:C:G,NC_000005.10:141640315:C:T
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141640316C>G, NC_000005.10:g.141640316C>T, NC_000005.9:g.141019883C>G, NC_000005.9:g.141019883C>T, NG_029678.2:g.1541G>C, NG_029678.2:g.1541G>A, XM_005268524.6:c.*1182G>C, XM_005268524.6:c.*1182G>A, XM_006714803.5:c.*1182G>C, XM_006714803.5:c.*1182G>A, XM_005268414.5:c.900C>G, XM_005268414.5:c.900C>T, XM_005268414.4:c.900C>G, XM_005268414.4:c.900C>T, XM_005268414.3:c.900C>G, XM_005268414.3:c.900C>T, XM_005268414.2:c.900C>G, XM_005268414.2:c.900C>T, XM_005268414.1:c.900C>G, XM_005268414.1:c.900C>T, XM_011537625.4:c.900C>G, XM_011537625.4:c.900C>T, XM_011537625.3:c.900C>G, XM_011537625.3:c.900C>T, XM_011537625.2:c.900C>G, XM_011537625.2:c.900C>T, XM_011537625.1:c.900C>G, XM_011537625.1:c.900C>T, NM_033449.3:c.*1182G>C, NM_033449.3:c.*1182G>A, NM_033449.2:c.*1182G>C, NM_033449.2:c.*1182G>A, XM_011537624.3:c.900C>G, XM_011537624.3:c.900C>T, XM_011537624.2:c.900C>G, XM_011537624.2:c.900C>T, XM_011537624.1:c.900C>G, XM_011537624.1:c.900C>T, XM_047417860.1:c.*1182G>C, XM_047417860.1:c.*1182G>A, XP_005268471.1:p.Asp300Glu, XP_011535927.1:p.Asp300Glu, XP_011535926.1:p.Asp300Glu

Select item 14875095777.

rs1487509577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141640061 (GRCh38)
5:141019628 (GRCh37)
Canonical SPDI:: NC_000005.10:141640060:G:A
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141640061G>A, NC_000005.9:g.141019628G>A, NG_029678.2:g.1796C>T, XM_005268524.6:c.*1437C>T, XM_006714803.5:c.*1437C>T, NM_173828.5:c.645G>A, NM_173828.4:c.645G>A, XM_005268414.5:c.645G>A, XM_005268414.4:c.645G>A, XM_005268414.3:c.645G>A, XM_005268414.2:c.645G>A, XM_005268414.1:c.645G>A, XM_011537625.4:c.645G>A, XM_011537625.3:c.645G>A, XM_011537625.2:c.645G>A, XM_011537625.1:c.645G>A, NM_033449.3:c.*1437C>T, NM_033449.2:c.*1437C>T, XM_011537624.3:c.645G>A, XM_011537624.2:c.645G>A, XM_011537624.1:c.645G>A, NM_001130029.2:c.645G>A, NM_001130029.1:c.645G>A, XM_047417860.1:c.*1437C>T, XM_047417113.1:c.645G>A

Select item 14859875808.

rs1485987580 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:141638273 (GRCh38)
5:141017841 (GRCh37)
Canonical SPDI:: NC_000005.10:141638273:A:AA
Gene:: HDAC3 (Varview), RELL2 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.141638274dup, NC_000005.9:g.141017841dup, NG_029678.2:g.3583dup, NM_173828.5:c.49dup, NM_173828.4:c.49dup, XM_005268414.5:c.49dup, XM_005268414.4:c.49dup, XM_005268414.3:c.49dup, XM_005268414.2:c.49dup, XM_005268414.1:c.49dup, XM_011537625.4:c.49dup, XM_011537625.3:c.49dup, XM_011537625.2:c.49dup, XM_011537625.1:c.49dup, XM_011537624.3:c.49dup, XM_011537624.2:c.49dup, XM_011537624.1:c.49dup, NM_001130029.2:c.49dup, NM_001130029.1:c.49dup, XM_047417113.1:c.49dup, NP_776189.3:p.Met17fs, XP_005268471.1:p.Met17fs, XP_011535927.1:p.Met17fs, XP_011535926.1:p.Met17fs, NP_001123501.1:p.Met17fs, XP_047273069.1:p.Met17fs

Select item 14853286309.

rs1485328630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141640008 (GRCh38)
5:141019575 (GRCh37)
Canonical SPDI:: NC_000005.10:141640007:G:A
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141640008G>A, NC_000005.9:g.141019575G>A, NG_029678.2:g.1849C>T, XM_005268524.6:c.*1490C>T, XM_006714803.5:c.*1490C>T, NM_173828.5:c.592G>A, NM_173828.4:c.592G>A, XM_005268414.5:c.592G>A, XM_005268414.4:c.592G>A, XM_005268414.3:c.592G>A, XM_005268414.2:c.592G>A, XM_005268414.1:c.592G>A, XM_011537625.4:c.592G>A, XM_011537625.3:c.592G>A, XM_011537625.2:c.592G>A, XM_011537625.1:c.592G>A, NM_033449.3:c.*1490C>T, NM_033449.2:c.*1490C>T, XM_011537624.3:c.592G>A, XM_011537624.2:c.592G>A, XM_011537624.1:c.592G>A, NM_001130029.2:c.592G>A, NM_001130029.1:c.592G>A, XM_047417860.1:c.*1490C>T, XM_047417113.1:c.592G>A, NP_776189.3:p.Gly198Arg, XP_005268471.1:p.Gly198Arg, XP_011535927.1:p.Gly198Arg, XP_011535926.1:p.Gly198Arg, NP_001123501.1:p.Gly198Arg, XP_047273069.1:p.Gly198Arg

Select item 148055479010.

rs1480554790 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141640320 (GRCh38)
5:141019887 (GRCh37)
Canonical SPDI:: NC_000005.10:141640319:A:C
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141640320A>C, NC_000005.9:g.141019887A>C, NG_029678.2:g.1537T>G, XM_005268524.6:c.*1178T>G, XM_006714803.5:c.*1178T>G, XM_005268414.5:c.904A>C, XM_005268414.4:c.904A>C, XM_005268414.3:c.904A>C, XM_005268414.2:c.904A>C, XM_005268414.1:c.904A>C, XM_011537625.4:c.904A>C, XM_011537625.3:c.904A>C, XM_011537625.2:c.904A>C, XM_011537625.1:c.904A>C, NM_033449.3:c.*1178T>G, NM_033449.2:c.*1178T>G, XM_011537624.3:c.904A>C, XM_011537624.2:c.904A>C, XM_011537624.1:c.904A>C, XM_047417860.1:c.*1178T>G, XP_005268471.1:p.Thr302Pro, XP_011535927.1:p.Thr302Pro, XP_011535926.1:p.Thr302Pro

Select item 147848416911.

rs1478484169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141640249 (GRCh38)
5:141019816 (GRCh37)
Canonical SPDI:: NC_000005.10:141640248:A:G
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.141640249A>G, NC_000005.9:g.141019816A>G, NG_029678.2:g.1608T>C, XM_005268524.6:c.*1249T>C, XM_006714803.5:c.*1249T>C, NM_173828.5:c.833A>G, NM_173828.4:c.833A>G, XM_005268414.5:c.833A>G, XM_005268414.4:c.833A>G, XM_005268414.3:c.833A>G, XM_005268414.2:c.833A>G, XM_005268414.1:c.833A>G, XM_011537625.4:c.833A>G, XM_011537625.3:c.833A>G, XM_011537625.2:c.833A>G, XM_011537625.1:c.833A>G, NM_033449.3:c.*1249T>C, NM_033449.2:c.*1249T>C, XM_011537624.3:c.833A>G, XM_011537624.2:c.833A>G, XM_011537624.1:c.833A>G, NM_001130029.2:c.833A>G, NM_001130029.1:c.833A>G, XM_047417860.1:c.*1249T>C, XM_047417113.1:c.833A>G, NP_776189.3:p.Gln278Arg, XP_005268471.1:p.Gln278Arg, XP_011535927.1:p.Gln278Arg, XP_011535926.1:p.Gln278Arg, NP_001123501.1:p.Gln278Arg, XP_047273069.1:p.Gln278Arg

Select item 147767915812.

rs1477679158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:141639999 (GRCh38)
5:141019566 (GRCh37)
Canonical SPDI:: NC_000005.10:141639998:T:G
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141639999T>G, NC_000005.9:g.141019566T>G, NG_029678.2:g.1858A>C, XM_005268524.6:c.*1499A>C, XM_006714803.5:c.*1499A>C, NM_173828.5:c.583T>G, NM_173828.4:c.583T>G, XM_005268414.5:c.583T>G, XM_005268414.4:c.583T>G, XM_005268414.3:c.583T>G, XM_005268414.2:c.583T>G, XM_005268414.1:c.583T>G, XM_011537625.4:c.583T>G, XM_011537625.3:c.583T>G, XM_011537625.2:c.583T>G, XM_011537625.1:c.583T>G, NM_033449.3:c.*1499A>C, NM_033449.2:c.*1499A>C, XM_011537624.3:c.583T>G, XM_011537624.2:c.583T>G, XM_011537624.1:c.583T>G, NM_001130029.2:c.583T>G, NM_001130029.1:c.583T>G, XM_047417860.1:c.*1499A>C, XM_047417113.1:c.583T>G, NP_776189.3:p.Ser195Ala, XP_005268471.1:p.Ser195Ala, XP_011535927.1:p.Ser195Ala, XP_011535926.1:p.Ser195Ala, NP_001123501.1:p.Ser195Ala, XP_047273069.1:p.Ser195Ala

Select item 147750496913.

rs1477504969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141639973 (GRCh38)
5:141019540 (GRCh37)
Canonical SPDI:: NC_000005.10:141639972:G:T
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141639973G>T, NC_000005.9:g.141019540G>T, NG_029678.2:g.1884C>A, XM_005268524.6:c.*1525C>A, XM_006714803.5:c.*1525C>A, NM_173828.5:c.557G>T, NM_173828.4:c.557G>T, XM_005268414.5:c.557G>T, XM_005268414.4:c.557G>T, XM_005268414.3:c.557G>T, XM_005268414.2:c.557G>T, XM_005268414.1:c.557G>T, XM_011537625.4:c.557G>T, XM_011537625.3:c.557G>T, XM_011537625.2:c.557G>T, XM_011537625.1:c.557G>T, NM_033449.3:c.*1525C>A, NM_033449.2:c.*1525C>A, XM_011537624.3:c.557G>T, XM_011537624.2:c.557G>T, XM_011537624.1:c.557G>T, NM_001130029.2:c.557G>T, NM_001130029.1:c.557G>T, XM_047417860.1:c.*1525C>A, XM_047417113.1:c.557G>T, NP_776189.3:p.Gly186Val, XP_005268471.1:p.Gly186Val, XP_011535927.1:p.Gly186Val, XP_011535926.1:p.Gly186Val, NP_001123501.1:p.Gly186Val, XP_047273069.1:p.Gly186Val

Select item 147748637314.

rs1477486373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141639495 (GRCh38)
5:141019062 (GRCh37)
Canonical SPDI:: NC_000005.10:141639494:G:A
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.141639495G>A, NC_000005.9:g.141019062G>A, NG_029678.2:g.2362C>T, XM_005268524.6:c.*2003C>T, XM_006714803.5:c.*2003C>T, NM_173828.5:c.349G>A, NM_173828.4:c.349G>A, XM_005268414.5:c.349G>A, XM_005268414.4:c.349G>A, XM_005268414.3:c.349G>A, XM_005268414.2:c.349G>A, XM_005268414.1:c.349G>A, XM_011537625.4:c.349G>A, XM_011537625.3:c.349G>A, XM_011537625.2:c.349G>A, XM_011537625.1:c.349G>A, NM_033449.3:c.*2003C>T, NM_033449.2:c.*2003C>T, XM_011537624.3:c.349G>A, XM_011537624.2:c.349G>A, XM_011537624.1:c.349G>A, NM_001130029.2:c.349G>A, NM_001130029.1:c.349G>A, XM_047417860.1:c.*2003C>T, XM_047417113.1:c.349G>A, NP_776189.3:p.Ala117Thr, XP_005268471.1:p.Ala117Thr, XP_011535927.1:p.Ala117Thr, XP_011535926.1:p.Ala117Thr, NP_001123501.1:p.Ala117Thr, XP_047273069.1:p.Ala117Thr

Select item 147506337415.

rs1475063374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141638296 (GRCh38)
5:141017863 (GRCh37)
Canonical SPDI:: NC_000005.10:141638295:T:C
Gene:: HDAC3 (Varview), RELL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141638296T>C, NC_000005.9:g.141017863T>C, NG_029678.2:g.3561A>G, NM_173828.5:c.71T>C, NM_173828.4:c.71T>C, XM_005268414.5:c.71T>C, XM_005268414.4:c.71T>C, XM_005268414.3:c.71T>C, XM_005268414.2:c.71T>C, XM_005268414.1:c.71T>C, XM_011537625.4:c.71T>C, XM_011537625.3:c.71T>C, XM_011537625.2:c.71T>C, XM_011537625.1:c.71T>C, XM_011537624.3:c.71T>C, XM_011537624.2:c.71T>C, XM_011537624.1:c.71T>C, NM_001130029.2:c.71T>C, NM_001130029.1:c.71T>C, XM_047417113.1:c.71T>C, NP_776189.3:p.Val24Ala, XP_005268471.1:p.Val24Ala, XP_011535927.1:p.Val24Ala, XP_011535926.1:p.Val24Ala, NP_001123501.1:p.Val24Ala, XP_047273069.1:p.Val24Ala

Select item 147201721316.

rs1472017213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141640082 (GRCh38)
5:141019649 (GRCh37)
Canonical SPDI:: NC_000005.10:141640081:G:T
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_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_000005.10:g.141640082G>T, NC_000005.9:g.141019649G>T, NG_029678.2:g.1775C>A, XM_005268524.6:c.*1416C>A, XM_006714803.5:c.*1416C>A, NM_173828.5:c.666G>T, NM_173828.4:c.666G>T, XM_005268414.5:c.666G>T, XM_005268414.4:c.666G>T, XM_005268414.3:c.666G>T, XM_005268414.2:c.666G>T, XM_005268414.1:c.666G>T, XM_011537625.4:c.666G>T, XM_011537625.3:c.666G>T, XM_011537625.2:c.666G>T, XM_011537625.1:c.666G>T, NM_033449.3:c.*1416C>A, NM_033449.2:c.*1416C>A, XM_011537624.3:c.666G>T, XM_011537624.2:c.666G>T, XM_011537624.1:c.666G>T, NM_001130029.2:c.666G>T, NM_001130029.1:c.666G>T, XM_047417860.1:c.*1416C>A, XM_047417113.1:c.666G>T

Select item 147198705917.

rs1471987059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141638958 (GRCh38)
5:141018525 (GRCh37)
Canonical SPDI:: NC_000005.10:141638957:A:G
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.141638958A>G, NC_000005.9:g.141018525A>G, NG_029678.2:g.2899T>C, NM_173828.5:c.254A>G, NM_173828.4:c.254A>G, XM_005268414.5:c.254A>G, XM_005268414.4:c.254A>G, XM_005268414.3:c.254A>G, XM_005268414.2:c.254A>G, XM_005268414.1:c.254A>G, XM_011537625.4:c.254A>G, XM_011537625.3:c.254A>G, XM_011537625.2:c.254A>G, XM_011537625.1:c.254A>G, XM_011537624.3:c.254A>G, XM_011537624.2:c.254A>G, XM_011537624.1:c.254A>G, NM_001130029.2:c.254A>G, NM_001130029.1:c.254A>G, XM_047417113.1:c.254A>G, NP_776189.3:p.Asn85Ser, XP_005268471.1:p.Asn85Ser, XP_011535927.1:p.Asn85Ser, XP_011535926.1:p.Asn85Ser, NP_001123501.1:p.Asn85Ser, XP_047273069.1:p.Asn85Ser

Select item 146999140418.

rs1469991404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141638961 (GRCh38)
5:141018528 (GRCh37)
Canonical SPDI:: NC_000005.10:141638960:C:G,NC_000005.10:141638960:C:T
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141638961C>G, NC_000005.10:g.141638961C>T, NC_000005.9:g.141018528C>G, NC_000005.9:g.141018528C>T, NG_029678.2:g.2896G>C, NG_029678.2:g.2896G>A, NM_173828.5:c.257C>G, NM_173828.5:c.257C>T, NM_173828.4:c.257C>G, NM_173828.4:c.257C>T, XM_005268414.5:c.257C>G, XM_005268414.5:c.257C>T, XM_005268414.4:c.257C>G, XM_005268414.4:c.257C>T, XM_005268414.3:c.257C>G, XM_005268414.3:c.257C>T, XM_005268414.2:c.257C>G, XM_005268414.2:c.257C>T, XM_005268414.1:c.257C>G, XM_005268414.1:c.257C>T, XM_011537625.4:c.257C>G, XM_011537625.4:c.257C>T, XM_011537625.3:c.257C>G, XM_011537625.3:c.257C>T, XM_011537625.2:c.257C>G, XM_011537625.2:c.257C>T, XM_011537625.1:c.257C>G, XM_011537625.1:c.257C>T, XM_011537624.3:c.257C>G, XM_011537624.3:c.257C>T, XM_011537624.2:c.257C>G, XM_011537624.2:c.257C>T, XM_011537624.1:c.257C>G, XM_011537624.1:c.257C>T, NM_001130029.2:c.257C>G, NM_001130029.2:c.257C>T, NM_001130029.1:c.257C>G, NM_001130029.1:c.257C>T, XM_047417113.1:c.257C>G, XM_047417113.1:c.257C>T, NP_776189.3:p.Ala86Gly, NP_776189.3:p.Ala86Val, XP_005268471.1:p.Ala86Gly, XP_005268471.1:p.Ala86Val, XP_011535927.1:p.Ala86Gly, XP_011535927.1:p.Ala86Val, XP_011535926.1:p.Ala86Gly, XP_011535926.1:p.Ala86Val, NP_001123501.1:p.Ala86Gly, NP_001123501.1:p.Ala86Val, XP_047273069.1:p.Ala86Gly, XP_047273069.1:p.Ala86Val

Select item 146576803719.

rs1465768037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141639526 (GRCh38)
5:141019093 (GRCh37)
Canonical SPDI:: NC_000005.10:141639525:G:A
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_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_000005.10:g.141639526G>A, NC_000005.9:g.141019093G>A, NG_029678.2:g.2331C>T, XM_005268524.6:c.*1972C>T, XM_006714803.5:c.*1972C>T, NM_173828.5:c.380G>A, NM_173828.4:c.380G>A, XM_005268414.5:c.380G>A, XM_005268414.4:c.380G>A, XM_005268414.3:c.380G>A, XM_005268414.2:c.380G>A, XM_005268414.1:c.380G>A, XM_011537625.4:c.380G>A, XM_011537625.3:c.380G>A, XM_011537625.2:c.380G>A, XM_011537625.1:c.380G>A, NM_033449.3:c.*1972C>T, NM_033449.2:c.*1972C>T, XM_011537624.3:c.380G>A, XM_011537624.2:c.380G>A, XM_011537624.1:c.380G>A, NM_001130029.2:c.380G>A, NM_001130029.1:c.380G>A, XM_047417860.1:c.*1972C>T, XM_047417113.1:c.380G>A, NP_776189.3:p.Gly127Asp, XP_005268471.1:p.Gly127Asp, XP_011535927.1:p.Gly127Asp, XP_011535926.1:p.Gly127Asp, NP_001123501.1:p.Gly127Asp, XP_047273069.1:p.Gly127Asp

Select item 146476940520.

rs1464769405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141639981 (GRCh38)
5:141019548 (GRCh37)
Canonical SPDI:: NC_000005.10:141639980:A:C
Gene:: FCHSD1 (Varview), RELL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141639981A>C, NC_000005.9:g.141019548A>C, NG_029678.2:g.1876T>G, XM_005268524.6:c.*1517T>G, XM_006714803.5:c.*1517T>G, NM_173828.5:c.565A>C, NM_173828.4:c.565A>C, XM_005268414.5:c.565A>C, XM_005268414.4:c.565A>C, XM_005268414.3:c.565A>C, XM_005268414.2:c.565A>C, XM_005268414.1:c.565A>C, XM_011537625.4:c.565A>C, XM_011537625.3:c.565A>C, XM_011537625.2:c.565A>C, XM_011537625.1:c.565A>C, NM_033449.3:c.*1517T>G, NM_033449.2:c.*1517T>G, XM_011537624.3:c.565A>C, XM_011537624.2:c.565A>C, XM_011537624.1:c.565A>C, NM_001130029.2:c.565A>C, NM_001130029.1:c.565A>C, XM_047417860.1:c.*1517T>G, XM_047417113.1:c.565A>C, NP_776189.3:p.Thr189Pro, XP_005268471.1:p.Thr189Pro, XP_011535927.1:p.Thr189Pro, XP_011535926.1:p.Thr189Pro, NP_001123501.1:p.Thr189Pro, XP_047273069.1:p.Thr189Pro

<< First< Prev

Page of 19

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 767937701) (373)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: