SNP Links for Protein (Select 1034570197) - SNP

Links from Protein

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Select item 14898138491.

rs1489813849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:91981734 (GRCh38)
10:93741491 (GRCh37)
Canonical SPDI:: NC_000010.11:91981733:A:T
Gene:: BTAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.91981734A>T, NC_000010.10:g.93741491A>T, NM_003972.3:c.1847A>T, NM_003972.2:c.1847A>T, XM_011540326.3:c.1736A>T, XM_011540326.2:c.1736A>T, XM_011540326.1:c.1736A>T, XM_011540327.3:c.1475A>T, XM_011540327.2:c.1475A>T, XM_011540327.1:c.1475A>T, XM_011540328.3:c.1379A>T, XM_011540328.2:c.1379A>T, XM_011540328.1:c.1379A>T, XM_017016877.2:c.1700A>T, XM_017016877.1:c.1700A>T, NR_165093.1:n.2536A>T, NR_165097.1:n.2421A>T, NR_165091.1:n.2282A>T, NR_165100.1:n.2351A>T, NR_165099.1:n.2351A>T, NR_165102.1:n.2286A>T, NR_165095.1:n.2282A>T, NR_165098.1:n.2277A>T, NR_165104.1:n.2154A>T, NR_165094.1:n.2158A>T, NR_165103.1:n.2152A>T, NR_165092.1:n.2135A>T, NR_165101.1:n.2282A>T, NR_165096.1:n.2029A>T, NR_165090.1:n.2154A>T, XM_047425989.1:c.857A>T, NP_003963.1:p.Gln616Leu, XP_011538628.1:p.Gln579Leu, XP_011538629.1:p.Gln492Leu, XP_011538630.1:p.Gln460Leu, XP_016872366.1:p.Gln567Leu, XP_047281945.1:p.Gln286Leu

Select item 14895268172.

rs1489526817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:92008864 (GRCh38)
10:93768621 (GRCh37)
Canonical SPDI:: NC_000010.11:92008863:T:C
Gene:: BTAF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.92008864T>C, NC_000010.10:g.93768621T>C, NM_003972.3:c.3849T>C, NM_003972.2:c.3849T>C, XM_011540326.3:c.3738T>C, XM_011540326.2:c.3738T>C, XM_011540326.1:c.3738T>C, XM_011540327.3:c.3477T>C, XM_011540327.2:c.3477T>C, XM_011540327.1:c.3477T>C, XM_011540328.3:c.3381T>C, XM_011540328.2:c.3381T>C, XM_011540328.1:c.3381T>C, XM_017016877.2:c.3702T>C, XM_017016877.1:c.3702T>C, NR_165093.1:n.4643T>C, NR_165097.1:n.4423T>C, NR_165091.1:n.4389T>C, NR_165100.1:n.4366T>C, NR_165099.1:n.4366T>C, NR_165102.1:n.4288T>C, NR_165095.1:n.4284T>C, NR_165098.1:n.4279T>C, NR_165104.1:n.4261T>C, NR_165094.1:n.4160T>C, NR_165103.1:n.4154T>C, NR_165092.1:n.4137T>C, NR_165101.1:n.4131T>C, NR_165096.1:n.4031T>C, NR_165090.1:n.4016T>C, XM_047425989.1:c.2859T>C

Select item 14889550443.

rs1488955044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:92014026 (GRCh38)
10:93773783 (GRCh37)
Canonical SPDI:: NC_000010.11:92014025:C:G
Gene:: BTAF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.92014026C>G, NC_000010.10:g.93773783C>G, NM_003972.3:c.4581C>G, NM_003972.2:c.4581C>G, XM_011540326.3:c.4470C>G, XM_011540326.2:c.4470C>G, XM_011540326.1:c.4470C>G, XM_011540327.3:c.4209C>G, XM_011540327.2:c.4209C>G, XM_011540327.1:c.4209C>G, XM_011540328.3:c.4113C>G, XM_011540328.2:c.4113C>G, XM_011540328.1:c.4113C>G, XM_017016877.2:c.4434C>G, XM_017016877.1:c.4434C>G, NR_165093.1:n.5375C>G, NR_165097.1:n.5155C>G, NR_165091.1:n.5121C>G, NR_165100.1:n.5098C>G, NR_165099.1:n.5098C>G, NR_165102.1:n.5020C>G, NR_165095.1:n.5016C>G, NR_165098.1:n.5011C>G, NR_165104.1:n.4993C>G, NR_165094.1:n.4892C>G, NR_165103.1:n.4886C>G, NR_165092.1:n.4869C>G, NR_165101.1:n.4863C>G, NR_165096.1:n.4763C>G, NR_165090.1:n.4748C>G, XM_047425989.1:c.3591C>G

Select item 14883151224.

rs1488315122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:91989303 (GRCh38)
10:93749060 (GRCh37)
Canonical SPDI:: NC_000010.11:91989302:T:C
Gene:: BTAF1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_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_000010.11:g.91989303T>C, NC_000010.10:g.93749060T>C, NM_003972.3:c.2577T>C, NM_003972.2:c.2577T>C, XM_011540326.3:c.2466T>C, XM_011540326.2:c.2466T>C, XM_011540326.1:c.2466T>C, XM_011540327.3:c.2205T>C, XM_011540327.2:c.2205T>C, XM_011540327.1:c.2205T>C, XM_011540328.3:c.2109T>C, XM_011540328.2:c.2109T>C, XM_011540328.1:c.2109T>C, XM_017016877.2:c.2430T>C, XM_017016877.1:c.2430T>C, NR_165093.1:n.3266T>C, NR_165097.1:n.3151T>C, NR_165091.1:n.3012T>C, NR_165100.1:n.3081T>C, NR_165099.1:n.3081T>C, NR_165102.1:n.3016T>C, NR_165095.1:n.3012T>C, NR_165098.1:n.3007T>C, NR_165104.1:n.2884T>C, NR_165094.1:n.2888T>C, NR_165103.1:n.2882T>C, NR_165092.1:n.2865T>C, NR_165101.1:n.3012T>C, NR_165096.1:n.2759T>C, NR_165090.1:n.2884T>C, XM_047425989.1:c.1587T>C

Select item 14882728405.

rs1488272840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:91981758 (GRCh38)
10:93741515 (GRCh37)
Canonical SPDI:: NC_000010.11:91981757:T:C
Gene:: BTAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.91981758T>C, NC_000010.10:g.93741515T>C, NM_003972.3:c.1871T>C, NM_003972.2:c.1871T>C, XM_011540326.3:c.1760T>C, XM_011540326.2:c.1760T>C, XM_011540326.1:c.1760T>C, XM_011540327.3:c.1499T>C, XM_011540327.2:c.1499T>C, XM_011540327.1:c.1499T>C, XM_011540328.3:c.1403T>C, XM_011540328.2:c.1403T>C, XM_011540328.1:c.1403T>C, XM_017016877.2:c.1724T>C, XM_017016877.1:c.1724T>C, NR_165093.1:n.2560T>C, NR_165097.1:n.2445T>C, NR_165091.1:n.2306T>C, NR_165100.1:n.2375T>C, NR_165099.1:n.2375T>C, NR_165102.1:n.2310T>C, NR_165095.1:n.2306T>C, NR_165098.1:n.2301T>C, NR_165104.1:n.2178T>C, NR_165094.1:n.2182T>C, NR_165103.1:n.2176T>C, NR_165092.1:n.2159T>C, NR_165101.1:n.2306T>C, NR_165096.1:n.2053T>C, NR_165090.1:n.2178T>C, XM_047425989.1:c.881T>C, NP_003963.1:p.Leu624Ser, XP_011538628.1:p.Leu587Ser, XP_011538629.1:p.Leu500Ser, XP_011538630.1:p.Leu468Ser, XP_016872366.1:p.Leu575Ser, XP_047281945.1:p.Leu294Ser

Select item 14880862386.

rs1488086238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:92024867 (GRCh38)
10:93784624 (GRCh37)
Canonical SPDI:: NC_000010.11:92024866:A:G
Gene:: BTAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.92024867A>G, NC_000010.10:g.93784624A>G, NM_003972.3:c.4975A>G, NM_003972.2:c.4975A>G, XM_011540326.3:c.4864A>G, XM_011540326.2:c.4864A>G, XM_011540326.1:c.4864A>G, XM_011540327.3:c.4603A>G, XM_011540327.2:c.4603A>G, XM_011540327.1:c.4603A>G, XM_011540328.3:c.4507A>G, XM_011540328.2:c.4507A>G, XM_011540328.1:c.4507A>G, XM_017016877.2:c.4828A>G, XM_017016877.1:c.4828A>G, NR_165093.1:n.5769A>G, NR_165097.1:n.5549A>G, NR_165091.1:n.5515A>G, NR_165100.1:n.5492A>G, NR_165099.1:n.5492A>G, NR_165102.1:n.5414A>G, NR_165095.1:n.5410A>G, NR_165098.1:n.5405A>G, NR_165104.1:n.5387A>G, NR_165094.1:n.5286A>G, NR_165103.1:n.5280A>G, NR_165092.1:n.5263A>G, NR_165101.1:n.5257A>G, NR_165096.1:n.5157A>G, NR_165090.1:n.5142A>G, XM_047425989.1:c.3985A>G, NP_003963.1:p.Ile1659Val, XP_011538628.1:p.Ile1622Val, XP_011538629.1:p.Ile1535Val, XP_011538630.1:p.Ile1503Val, XP_016872366.1:p.Ile1610Val, XP_047281945.1:p.Ile1329Val

Select item 14871073427.

rs1487107342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:91935755 (GRCh38)
10:93695512 (GRCh37)
Canonical SPDI:: NC_000010.11:91935754:A:G,NC_000010.11:91935754:A:T
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.91935755A>G, NC_000010.11:g.91935755A>T, NC_000010.10:g.93695512A>G, NC_000010.10:g.93695512A>T, NM_003972.3:c.113A>G, NM_003972.3:c.113A>T, NM_003972.2:c.113A>G, NM_003972.2:c.113A>T, XM_011540326.3:c.113A>G, XM_011540326.3:c.113A>T, XM_011540326.2:c.113A>G, XM_011540326.2:c.113A>T, XM_011540326.1:c.113A>G, XM_011540326.1:c.113A>T, XM_017016877.2:c.113A>G, XM_017016877.2:c.113A>T, XM_017016877.1:c.113A>G, XM_017016877.1:c.113A>T, NR_165093.1:n.559A>G, NR_165093.1:n.559A>T, NR_165097.1:n.559A>G, NR_165097.1:n.559A>T, NR_165091.1:n.420A>G, NR_165091.1:n.420A>T, NR_165100.1:n.489A>G, NR_165100.1:n.489A>T, NR_165099.1:n.489A>G, NR_165099.1:n.489A>T, NR_165102.1:n.420A>G, NR_165102.1:n.420A>T, NR_165095.1:n.420A>G, NR_165095.1:n.420A>T, NR_165098.1:n.420A>G, NR_165098.1:n.420A>T, NR_165104.1:n.420A>G, NR_165104.1:n.420A>T, NR_165094.1:n.420A>G, NR_165094.1:n.420A>T, NR_165103.1:n.420A>G, NR_165103.1:n.420A>T, NR_165092.1:n.420A>G, NR_165092.1:n.420A>T, NR_165101.1:n.420A>G, NR_165101.1:n.420A>T, NR_165096.1:n.420A>G, NR_165096.1:n.420A>T, NR_165090.1:n.420A>G, NR_165090.1:n.420A>T, NP_003963.1:p.His38Arg, NP_003963.1:p.His38Leu, XP_011538628.1:p.His38Arg, XP_011538628.1:p.His38Leu, XP_016872366.1:p.His38Arg, XP_016872366.1:p.His38Leu

Select item 14870808368.

rs1487080836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:91951434 (GRCh38)
10:93711191 (GRCh37)
Canonical SPDI:: NC_000010.11:91951433:C:T
Gene:: BTAF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.91951434C>T, NC_000010.10:g.93711191C>T, NM_003972.3:c.432C>T, NM_003972.2:c.432C>T, XM_011540326.3:c.432C>T, XM_011540326.2:c.432C>T, XM_011540326.1:c.432C>T, XM_011540327.3:c.60C>T, XM_011540327.2:c.60C>T, XM_011540327.1:c.60C>T, XM_011540328.3:c.-37C>T, XM_011540328.2:c.-37C>T, XM_011540328.1:c.-37C>T, XM_017016877.2:c.285C>T, XM_017016877.1:c.285C>T, NR_165093.1:n.878C>T, NR_165097.1:n.878C>T, NR_165091.1:n.739C>T, NR_165100.1:n.808C>T, NR_165099.1:n.808C>T, NR_165102.1:n.739C>T, NR_165095.1:n.739C>T, NR_165098.1:n.733C>T, NR_165104.1:n.739C>T, NR_165094.1:n.739C>T, NR_165103.1:n.739C>T, NR_165092.1:n.592C>T, NR_165101.1:n.739C>T, NR_165096.1:n.739C>T, NR_165090.1:n.739C>T

Select item 14868244479.

rs1486824447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:91962661 (GRCh38)
10:93722418 (GRCh37)
Canonical SPDI:: NC_000010.11:91962660:T:C
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.91962661T>C, NC_000010.10:g.93722418T>C, NM_003972.3:c.1387T>C, NM_003972.2:c.1387T>C, XM_011540326.3:c.1387T>C, XM_011540326.2:c.1387T>C, XM_011540326.1:c.1387T>C, XM_011540327.3:c.1015T>C, XM_011540327.2:c.1015T>C, XM_011540327.1:c.1015T>C, XM_011540328.3:c.919T>C, XM_011540328.2:c.919T>C, XM_011540328.1:c.919T>C, XM_017016877.2:c.1240T>C, XM_017016877.1:c.1240T>C, NR_165093.1:n.2076T>C, NR_165097.1:n.1961T>C, NR_165091.1:n.1822T>C, NR_165100.1:n.1891T>C, NR_165099.1:n.1891T>C, NR_165102.1:n.1826T>C, NR_165095.1:n.1822T>C, NR_165098.1:n.1928T>C, NR_165104.1:n.1694T>C, NR_165094.1:n.1698T>C, NR_165103.1:n.1692T>C, NR_165092.1:n.1675T>C, NR_165101.1:n.1822T>C, NR_165096.1:n.1694T>C, NR_165090.1:n.1694T>C, XM_047425989.1:c.397T>C, NP_003963.1:p.Tyr463His, XP_011538628.1:p.Tyr463His, XP_011538629.1:p.Tyr339His, XP_011538630.1:p.Tyr307His, XP_016872366.1:p.Tyr414His, XP_047281945.1:p.Tyr133His

Select item 148543457710.

rs1485434577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:92026690 (GRCh38)
10:93786447 (GRCh37)
Canonical SPDI:: NC_000010.11:92026689:A:G
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.92026690A>G, NC_000010.10:g.93786447A>G, NM_003972.3:c.5174A>G, NM_003972.2:c.5174A>G, XM_011540326.3:c.5063A>G, XM_011540326.2:c.5063A>G, XM_011540326.1:c.5063A>G, XM_011540327.3:c.4802A>G, XM_011540327.2:c.4802A>G, XM_011540327.1:c.4802A>G, XM_011540328.3:c.4706A>G, XM_011540328.2:c.4706A>G, XM_011540328.1:c.4706A>G, XM_017016877.2:c.5027A>G, XM_017016877.1:c.5027A>G, NR_165093.1:n.5968A>G, NR_165097.1:n.5748A>G, NR_165091.1:n.5714A>G, NR_165100.1:n.5691A>G, NR_165099.1:n.5691A>G, NR_165102.1:n.5613A>G, NR_165095.1:n.5609A>G, NR_165098.1:n.5604A>G, NR_165104.1:n.5586A>G, NR_165094.1:n.5485A>G, NR_165103.1:n.5479A>G, NR_165092.1:n.5462A>G, NR_165101.1:n.5456A>G, NR_165096.1:n.5356A>G, NR_165090.1:n.5341A>G, XM_047425989.1:c.4184A>G, NP_003963.1:p.Glu1725Gly, XP_011538628.1:p.Glu1688Gly, XP_011538629.1:p.Glu1601Gly, XP_011538630.1:p.Glu1569Gly, XP_016872366.1:p.Glu1676Gly, XP_047281945.1:p.Glu1395Gly

Select item 148481998211.

rs1484819982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:91996507 (GRCh38)
10:93756264 (GRCh37)
Canonical SPDI:: NC_000010.11:91996506:C:A
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.91996507C>A, NC_000010.10:g.93756264C>A, NM_003972.3:c.3448C>A, NM_003972.2:c.3448C>A, XM_011540326.3:c.3337C>A, XM_011540326.2:c.3337C>A, XM_011540326.1:c.3337C>A, XM_011540327.3:c.3076C>A, XM_011540327.2:c.3076C>A, XM_011540327.1:c.3076C>A, XM_011540328.3:c.2980C>A, XM_011540328.2:c.2980C>A, XM_011540328.1:c.2980C>A, XM_017016877.2:c.3301C>A, XM_017016877.1:c.3301C>A, NR_165093.1:n.4137C>A, NR_165097.1:n.4022C>A, NR_165091.1:n.3883C>A, NR_165100.1:n.3965C>A, NR_165099.1:n.3965C>A, NR_165102.1:n.3887C>A, NR_165095.1:n.3883C>A, NR_165098.1:n.3878C>A, NR_165104.1:n.3755C>A, NR_165094.1:n.3759C>A, NR_165103.1:n.3753C>A, NR_165092.1:n.3736C>A, NR_165101.1:n.3883C>A, NR_165096.1:n.3630C>A, NR_165090.1:n.3768C>A, XM_047425989.1:c.2458C>A, NP_003963.1:p.Leu1150Ile, XP_011538628.1:p.Leu1113Ile, XP_011538629.1:p.Leu1026Ile, XP_011538630.1:p.Leu994Ile, XP_016872366.1:p.Leu1101Ile, XP_047281945.1:p.Leu820Ile

Select item 148471835812.

rs1484718358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:91964142 (GRCh38)
10:93723899 (GRCh37)
Canonical SPDI:: NC_000010.11:91964141:A:C
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.91964142A>C, NC_000010.10:g.93723899A>C, NM_003972.3:c.1470A>C, NM_003972.2:c.1470A>C, XM_011540327.3:c.1098A>C, XM_011540327.2:c.1098A>C, XM_011540327.1:c.1098A>C, XM_011540328.3:c.1002A>C, XM_011540328.2:c.1002A>C, XM_011540328.1:c.1002A>C, XM_017016877.2:c.1323A>C, XM_017016877.1:c.1323A>C, NR_165093.1:n.2159A>C, NR_165097.1:n.2044A>C, NR_165091.1:n.1905A>C, NR_165100.1:n.1974A>C, NR_165099.1:n.1974A>C, NR_165102.1:n.1909A>C, NR_165095.1:n.1905A>C, NR_165104.1:n.1777A>C, NR_165094.1:n.1781A>C, NR_165103.1:n.1775A>C, NR_165092.1:n.1758A>C, NR_165101.1:n.1905A>C, NR_165090.1:n.1777A>C, XM_047425989.1:c.480A>C

Select item 148316534113.

rs1483165341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:92013994 (GRCh38)
10:93773751 (GRCh37)
Canonical SPDI:: NC_000010.11:92013993:A:T
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_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_000010.11:g.92013994A>T, NC_000010.10:g.93773751A>T, NM_003972.3:c.4549A>T, NM_003972.2:c.4549A>T, XM_011540326.3:c.4438A>T, XM_011540326.2:c.4438A>T, XM_011540326.1:c.4438A>T, XM_011540327.3:c.4177A>T, XM_011540327.2:c.4177A>T, XM_011540327.1:c.4177A>T, XM_011540328.3:c.4081A>T, XM_011540328.2:c.4081A>T, XM_011540328.1:c.4081A>T, XM_017016877.2:c.4402A>T, XM_017016877.1:c.4402A>T, NR_165093.1:n.5343A>T, NR_165097.1:n.5123A>T, NR_165091.1:n.5089A>T, NR_165100.1:n.5066A>T, NR_165099.1:n.5066A>T, NR_165102.1:n.4988A>T, NR_165095.1:n.4984A>T, NR_165098.1:n.4979A>T, NR_165104.1:n.4961A>T, NR_165094.1:n.4860A>T, NR_165103.1:n.4854A>T, NR_165092.1:n.4837A>T, NR_165101.1:n.4831A>T, NR_165096.1:n.4731A>T, NR_165090.1:n.4716A>T, XM_047425989.1:c.3559A>T, NP_003963.1:p.Ile1517Phe, XP_011538628.1:p.Ile1480Phe, XP_011538629.1:p.Ile1393Phe, XP_011538630.1:p.Ile1361Phe, XP_016872366.1:p.Ile1468Phe, XP_047281945.1:p.Ile1187Phe

Select item 148229742014.

rs1482297420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:91981775 (GRCh38)
10:93741532 (GRCh37)
Canonical SPDI:: NC_000010.11:91981774:G:C
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.91981775G>C, NC_000010.10:g.93741532G>C, NM_003972.3:c.1888G>C, NM_003972.2:c.1888G>C, XM_011540326.3:c.1777G>C, XM_011540326.2:c.1777G>C, XM_011540326.1:c.1777G>C, XM_011540327.3:c.1516G>C, XM_011540327.2:c.1516G>C, XM_011540327.1:c.1516G>C, XM_011540328.3:c.1420G>C, XM_011540328.2:c.1420G>C, XM_011540328.1:c.1420G>C, XM_017016877.2:c.1741G>C, XM_017016877.1:c.1741G>C, NR_165093.1:n.2577G>C, NR_165097.1:n.2462G>C, NR_165091.1:n.2323G>C, NR_165100.1:n.2392G>C, NR_165099.1:n.2392G>C, NR_165102.1:n.2327G>C, NR_165095.1:n.2323G>C, NR_165098.1:n.2318G>C, NR_165104.1:n.2195G>C, NR_165094.1:n.2199G>C, NR_165103.1:n.2193G>C, NR_165092.1:n.2176G>C, NR_165101.1:n.2323G>C, NR_165096.1:n.2070G>C, NR_165090.1:n.2195G>C, XM_047425989.1:c.898G>C, NP_003963.1:p.Val630Leu, XP_011538628.1:p.Val593Leu, XP_011538629.1:p.Val506Leu, XP_011538630.1:p.Val474Leu, XP_016872366.1:p.Val581Leu, XP_047281945.1:p.Val300Leu

Select item 148147943815.

rs1481479438 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGT>- [Show Flanks]
Chromosome:: 10:91959125 (GRCh38)
10:93718882 (GRCh37)
Canonical SPDI:: NC_000010.11:91959119:GTGGTGGT:GTGGT
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.91959122GGT[1], NC_000010.10:g.93718879GGT[1], NM_003972.3:c.958GGT[1], NM_003972.2:c.958GGT[1], XM_011540326.3:c.958GGT[1], XM_011540326.2:c.958GGT[1], XM_011540326.1:c.958GGT[1], XM_011540327.3:c.586GGT[1], XM_011540327.2:c.586GGT[1], XM_011540327.1:c.586GGT[1], XM_011540328.3:c.490GGT[1], XM_011540328.2:c.490GGT[1], XM_011540328.1:c.490GGT[1], XM_017016877.2:c.811GGT[1], XM_017016877.1:c.811GGT[1], NR_165093.1:n.1519GGT[1], NR_165097.1:n.1404GGT[1], NR_165091.1:n.1265GGT[1], NR_165100.1:n.1334GGT[1], NR_165099.1:n.1334GGT[1], NR_165102.1:n.1269GGT[1], NR_165095.1:n.1265GGT[1], NR_165098.1:n.1371GGT[1], NR_165104.1:n.1265GGT[1], NR_165094.1:n.1269GGT[1], NR_165103.1:n.1135GGT[1], NR_165092.1:n.1118GGT[1], NR_165101.1:n.1265GGT[1], NR_165096.1:n.1265GGT[1], NR_165090.1:n.1265GGT[1], XM_047425989.1:c.-161GGT[1], NP_003963.1:p.Gly321del, XP_011538628.1:p.Gly321del, XP_011538629.1:p.Gly197del, XP_011538630.1:p.Gly165del, XP_016872366.1:p.Gly272del

Select item 148104570716.

rs1481045707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:91935700 (GRCh38)
10:93695457 (GRCh37)
Canonical SPDI:: NC_000010.11:91935699:G:A
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.91935700G>A, NC_000010.10:g.93695457G>A, NM_003972.3:c.58G>A, NM_003972.2:c.58G>A, XM_011540326.3:c.58G>A, XM_011540326.2:c.58G>A, XM_011540326.1:c.58G>A, XM_017016877.2:c.58G>A, XM_017016877.1:c.58G>A, NR_165093.1:n.504G>A, NR_165097.1:n.504G>A, NR_165091.1:n.365G>A, NR_165100.1:n.434G>A, NR_165099.1:n.434G>A, NR_165102.1:n.365G>A, NR_165095.1:n.365G>A, NR_165098.1:n.365G>A, NR_165104.1:n.365G>A, NR_165094.1:n.365G>A, NR_165103.1:n.365G>A, NR_165092.1:n.365G>A, NR_165101.1:n.365G>A, NR_165096.1:n.365G>A, NR_165090.1:n.365G>A, NP_003963.1:p.Val20Ile, XP_011538628.1:p.Val20Ile, XP_016872366.1:p.Val20Ile

Select item 148042855817.

rs1480428558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:91992290 (GRCh38)
10:93752047 (GRCh37)
Canonical SPDI:: NC_000010.11:91992289:T:A,NC_000010.11:91992289:T:C
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.91992290T>A, NC_000010.11:g.91992290T>C, NC_000010.10:g.93752047T>A, NC_000010.10:g.93752047T>C, NM_003972.3:c.3026T>A, NM_003972.3:c.3026T>C, NM_003972.2:c.3026T>A, NM_003972.2:c.3026T>C, XM_011540326.3:c.2915T>A, XM_011540326.3:c.2915T>C, XM_011540326.2:c.2915T>A, XM_011540326.2:c.2915T>C, XM_011540326.1:c.2915T>A, XM_011540326.1:c.2915T>C, XM_011540327.3:c.2654T>A, XM_011540327.3:c.2654T>C, XM_011540327.2:c.2654T>A, XM_011540327.2:c.2654T>C, XM_011540327.1:c.2654T>A, XM_011540327.1:c.2654T>C, XM_011540328.3:c.2558T>A, XM_011540328.3:c.2558T>C, XM_011540328.2:c.2558T>A, XM_011540328.2:c.2558T>C, XM_011540328.1:c.2558T>A, XM_011540328.1:c.2558T>C, XM_017016877.2:c.2879T>A, XM_017016877.2:c.2879T>C, XM_017016877.1:c.2879T>A, XM_017016877.1:c.2879T>C, NR_165093.1:n.3715T>A, NR_165093.1:n.3715T>C, NR_165097.1:n.3600T>A, NR_165097.1:n.3600T>C, NR_165091.1:n.3461T>A, NR_165091.1:n.3461T>C, NR_165100.1:n.3530T>A, NR_165100.1:n.3530T>C, NR_165099.1:n.3530T>A, NR_165099.1:n.3530T>C, NR_165102.1:n.3465T>A, NR_165102.1:n.3465T>C, NR_165095.1:n.3461T>A, NR_165095.1:n.3461T>C, NR_165098.1:n.3456T>A, NR_165098.1:n.3456T>C, NR_165104.1:n.3333T>A, NR_165104.1:n.3333T>C, NR_165094.1:n.3337T>A, NR_165094.1:n.3337T>C, NR_165103.1:n.3331T>A, NR_165103.1:n.3331T>C, NR_165092.1:n.3314T>A, NR_165092.1:n.3314T>C, NR_165101.1:n.3461T>A, NR_165101.1:n.3461T>C, NR_165096.1:n.3208T>A, NR_165096.1:n.3208T>C, NR_165090.1:n.3333T>A, NR_165090.1:n.3333T>C, XM_047425989.1:c.2036T>A, XM_047425989.1:c.2036T>C, NP_003963.1:p.Ile1009Asn, NP_003963.1:p.Ile1009Thr, XP_011538628.1:p.Ile972Asn, XP_011538628.1:p.Ile972Thr, XP_011538629.1:p.Ile885Asn, XP_011538629.1:p.Ile885Thr, XP_011538630.1:p.Ile853Asn, XP_011538630.1:p.Ile853Thr, XP_016872366.1:p.Ile960Asn, XP_016872366.1:p.Ile960Thr, XP_047281945.1:p.Ile679Asn, XP_047281945.1:p.Ile679Thr

Select item 147985703218.

rs1479857032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:91957264 (GRCh38)
10:93717021 (GRCh37)
Canonical SPDI:: NC_000010.11:91957263:T:G
Gene:: BTAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.91957264T>G, NC_000010.10:g.93717021T>G, NM_003972.3:c.871T>G, NM_003972.2:c.871T>G, XM_011540326.3:c.871T>G, XM_011540326.2:c.871T>G, XM_011540326.1:c.871T>G, XM_011540327.3:c.499T>G, XM_011540327.2:c.499T>G, XM_011540327.1:c.499T>G, XM_011540328.3:c.403T>G, XM_011540328.2:c.403T>G, XM_011540328.1:c.403T>G, XM_017016877.2:c.724T>G, XM_017016877.1:c.724T>G, NR_165093.1:n.1432T>G, NR_165097.1:n.1317T>G, NR_165091.1:n.1178T>G, NR_165100.1:n.1247T>G, NR_165099.1:n.1247T>G, NR_165102.1:n.1182T>G, NR_165095.1:n.1178T>G, NR_165098.1:n.1284T>G, NR_165104.1:n.1178T>G, NR_165094.1:n.1182T>G, NR_165103.1:n.1048T>G, NR_165092.1:n.1031T>G, NR_165101.1:n.1178T>G, NR_165096.1:n.1178T>G, NR_165090.1:n.1178T>G, NP_003963.1:p.Cys291Gly, XP_011538628.1:p.Cys291Gly, XP_011538629.1:p.Cys167Gly, XP_011538630.1:p.Cys135Gly, XP_016872366.1:p.Cys242Gly

Select item 147825791219.

rs1478257912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:91959807 (GRCh38)
10:93719564 (GRCh37)
Canonical SPDI:: NC_000010.11:91959806:G:T
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.91959807G>T, NC_000010.10:g.93719564G>T, NM_003972.3:c.1013G>T, NM_003972.2:c.1013G>T, XM_011540326.3:c.1013G>T, XM_011540326.2:c.1013G>T, XM_011540326.1:c.1013G>T, XM_011540327.3:c.641G>T, XM_011540327.2:c.641G>T, XM_011540327.1:c.641G>T, XM_011540328.3:c.545G>T, XM_011540328.2:c.545G>T, XM_011540328.1:c.545G>T, XM_017016877.2:c.866G>T, XM_017016877.1:c.866G>T, NR_165093.1:n.1702G>T, NR_165097.1:n.1587G>T, NR_165091.1:n.1448G>T, NR_165100.1:n.1517G>T, NR_165099.1:n.1517G>T, NR_165102.1:n.1452G>T, NR_165095.1:n.1448G>T, NR_165098.1:n.1554G>T, NR_165104.1:n.1320G>T, NR_165094.1:n.1324G>T, NR_165103.1:n.1318G>T, NR_165092.1:n.1301G>T, NR_165101.1:n.1448G>T, NR_165096.1:n.1320G>T, NR_165090.1:n.1320G>T, XM_047425989.1:c.23G>T, NP_003963.1:p.Trp338Leu, XP_011538628.1:p.Trp338Leu, XP_011538629.1:p.Trp214Leu, XP_011538630.1:p.Trp182Leu, XP_016872366.1:p.Trp289Leu, XP_047281945.1:p.Trp8Leu

Select item 147794621620.

rs1477946216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:91924089 (GRCh38)
10:93683846 (GRCh37)
Canonical SPDI:: NC_000010.11:91924088:A:G
Gene:: BTAF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.91924089A>G, NC_000010.10:g.93683846A>G, NM_003972.3:c.13A>G, NM_003972.2:c.13A>G, XM_011540326.3:c.13A>G, XM_011540326.2:c.13A>G, XM_011540326.1:c.13A>G, XM_017016877.2:c.13A>G, XM_017016877.1:c.13A>G, NR_165093.1:n.320A>G, NR_165097.1:n.320A>G, NR_165091.1:n.320A>G, NR_165100.1:n.320A>G, NR_165099.1:n.320A>G, NR_165102.1:n.320A>G, NR_165095.1:n.320A>G, NR_165098.1:n.320A>G, NR_165104.1:n.320A>G, NR_165094.1:n.320A>G, NR_165103.1:n.320A>G, NR_165092.1:n.320A>G, NR_165101.1:n.320A>G, NR_165096.1:n.320A>G, NR_165090.1:n.320A>G, NP_003963.1:p.Arg5Gly, XP_011538628.1:p.Arg5Gly, XP_016872366.1:p.Arg5Gly

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