SNP Links for Protein (Select 767953647) - SNP

Select item 14907827581.

rs1490782758 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAAA [Show Flanks]
Chromosome:: 8:144545416 (GRCh38)
8:145770801 (GRCh37)
Canonical SPDI:: NC_000008.11:144545416:A:AAAAAAAAA
Gene:: ARHGAP39 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000008.11:g.144545417_144545418insAAAAAAAA, NC_000008.10:g.145770801_145770802insAAAAAAAA, XM_017013870.3:c.2353_2354insTTTTTTTT, XM_017013870.2:c.2353_2354insTTTTTTTT, XM_017013870.1:c.2353_2354insTTTTTTTT, NM_025251.3:c.2353_2354insTTTTTTTT, NM_025251.2:c.2353_2354insTTTTTTTT, NM_025251.1:c.2353_2354insTTTTTTTT, XM_011517312.2:c.1882_1883insTTTTTTTT, XM_011517312.1:c.1882_1883insTTTTTTTT, XM_011517308.2:c.2353_2354insTTTTTTTT, XM_011517308.1:c.2353_2354insTTTTTTTT, NM_001308208.2:c.2353_2354insTTTTTTTT, NM_001308208.1:c.2353_2354insTTTTTTTT, NM_001308207.1:c.2353_2354insTTTTTTTT, XP_016869359.1:p.Tyr785fs, NP_079527.1:p.Tyr785fs, XP_011515614.1:p.Tyr628fs, XP_011515610.1:p.Tyr785fs, NP_001295137.1:p.Tyr785fs, NP_001295136.1:p.Tyr785fs

Select item 14873956142.

rs1487395614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144530752 (GRCh38)
8:145756136 (GRCh37)
Canonical SPDI:: NC_000008.11:144530751:G:A,NC_000008.11:144530751:G:T
Gene:: ARHGAP39 (Varview), C8orf82 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144530752G>A, NC_000008.11:g.144530752G>T, NC_000008.10:g.145756136G>A, NC_000008.10:g.145756136G>T, XM_017013870.3:c.3100C>T, XM_017013870.3:c.3100C>A, XM_017013870.2:c.3100C>T, XM_017013870.2:c.3100C>A, XM_017013870.1:c.3100C>T, XM_017013870.1:c.3100C>A, NM_025251.3:c.3100C>T, NM_025251.3:c.3100C>A, NM_025251.2:c.3100C>T, NM_025251.2:c.3100C>A, NM_025251.1:c.3100C>T, NM_025251.1:c.3100C>A, XM_011517312.2:c.2629C>T, XM_011517312.2:c.2629C>A, XM_011517312.1:c.2629C>T, XM_011517312.1:c.2629C>A, XM_011517308.2:c.3100C>T, XM_011517308.2:c.3100C>A, XM_011517308.1:c.3100C>T, XM_011517308.1:c.3100C>A, NM_001308208.2:c.3007C>T, NM_001308208.2:c.3007C>A, NM_001308208.1:c.3007C>T, NM_001308208.1:c.3007C>A, NM_001308207.1:c.3007C>T, NM_001308207.1:c.3007C>A, XP_016869359.1:p.Leu1034Met, NP_079527.1:p.Leu1034Met, XP_011515614.1:p.Leu877Met, XP_011515610.1:p.Leu1034Met, NP_001295137.1:p.Leu1003Met, NP_001295136.1:p.Leu1003Met

Select item 14872325593.

rs1487232559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144547315 (GRCh38)
8:145772699 (GRCh37)
Canonical SPDI:: NC_000008.11:144547314:G:C
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.144547315G>C, NC_000008.10:g.145772699G>C, XM_017013870.3:c.1771C>G, XM_017013870.2:c.1771C>G, XM_017013870.1:c.1771C>G, NM_025251.3:c.1771C>G, NM_025251.2:c.1771C>G, NM_025251.1:c.1771C>G, XM_011517312.2:c.1300C>G, XM_011517312.1:c.1300C>G, XM_011517308.2:c.1771C>G, XM_011517308.1:c.1771C>G, NM_001308208.2:c.1771C>G, NM_001308208.1:c.1771C>G, NM_001308207.1:c.1771C>G, XP_016869359.1:p.Leu591Val, NP_079527.1:p.Leu591Val, XP_011515614.1:p.Leu434Val, XP_011515610.1:p.Leu591Val, NP_001295137.1:p.Leu591Val, NP_001295136.1:p.Leu591Val

Select item 14869065304.

rs1486906530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:144547667 (GRCh38)
8:145773051 (GRCh37)
Canonical SPDI:: NC_000008.11:144547666:C:G,NC_000008.11:144547666:C:T
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000008.11:g.144547667C>G, NC_000008.11:g.144547667C>T, NC_000008.10:g.145773051C>G, NC_000008.10:g.145773051C>T, XM_017013870.3:c.1419G>C, XM_017013870.3:c.1419G>A, XM_017013870.2:c.1419G>C, XM_017013870.2:c.1419G>A, XM_017013870.1:c.1419G>C, XM_017013870.1:c.1419G>A, NM_025251.3:c.1419G>C, NM_025251.3:c.1419G>A, NM_025251.2:c.1419G>C, NM_025251.2:c.1419G>A, NM_025251.1:c.1419G>C, NM_025251.1:c.1419G>A, XM_011517312.2:c.948G>C, XM_011517312.2:c.948G>A, XM_011517312.1:c.948G>C, XM_011517312.1:c.948G>A, XM_011517308.2:c.1419G>C, XM_011517308.2:c.1419G>A, XM_011517308.1:c.1419G>C, XM_011517308.1:c.1419G>A, NM_001308208.2:c.1419G>C, NM_001308208.2:c.1419G>A, NM_001308208.1:c.1419G>C, NM_001308208.1:c.1419G>A, NM_001308207.1:c.1419G>C, NM_001308207.1:c.1419G>A, XP_016869359.1:p.Met473Ile, XP_016869359.1:p.Met473Ile, NP_079527.1:p.Met473Ile, NP_079527.1:p.Met473Ile, XP_011515614.1:p.Met316Ile, XP_011515614.1:p.Met316Ile, XP_011515610.1:p.Met473Ile, XP_011515610.1:p.Met473Ile, NP_001295137.1:p.Met473Ile, NP_001295137.1:p.Met473Ile, NP_001295136.1:p.Met473Ile, NP_001295136.1:p.Met473Ile

Select item 14868037575.

rs1486803757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144530588 (GRCh38)
8:145755972 (GRCh37)
Canonical SPDI:: NC_000008.11:144530587:A:G
Gene:: ARHGAP39 (Varview), C8orf82 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144530588A>G, NC_000008.10:g.145755972A>G, XM_017013870.3:c.3179T>C, XM_017013870.2:c.3179T>C, XM_017013870.1:c.3179T>C, NM_025251.3:c.3179T>C, NM_025251.2:c.3179T>C, NM_025251.1:c.3179T>C, XM_011517312.2:c.2708T>C, XM_011517312.1:c.2708T>C, XM_011517308.2:c.3179T>C, XM_011517308.1:c.3179T>C, NM_001308208.2:c.3086T>C, NM_001308208.1:c.3086T>C, NM_001308207.1:c.3086T>C, XP_016869359.1:p.Val1060Ala, NP_079527.1:p.Val1060Ala, XP_011515614.1:p.Val903Ala, XP_011515610.1:p.Val1060Ala, NP_001295137.1:p.Val1029Ala, NP_001295136.1:p.Val1029Ala

Select item 14850243386.

rs1485024338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144555627 (GRCh38)
8:145781011 (GRCh37)
Canonical SPDI:: NC_000008.11:144555626:C:T
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144555627C>T, NC_000008.10:g.145781011C>T, XM_017013870.3:c.529G>A, XM_017013870.2:c.529G>A, XM_017013870.1:c.529G>A, NM_025251.3:c.529G>A, NM_025251.2:c.529G>A, NM_025251.1:c.529G>A, XM_011517312.2:c.58G>A, XM_011517312.1:c.58G>A, XM_011517308.2:c.529G>A, XM_011517308.1:c.529G>A, NM_001308208.2:c.529G>A, NM_001308208.1:c.529G>A, NM_001308207.1:c.529G>A, XP_016869359.1:p.Val177Met, NP_079527.1:p.Val177Met, XP_011515614.1:p.Val20Met, XP_011515610.1:p.Val177Met, NP_001295137.1:p.Val177Met, NP_001295136.1:p.Val177Met

Select item 14847311957.

rs1484731195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144548084 (GRCh38)
8:145773468 (GRCh37)
Canonical SPDI:: NC_000008.11:144548083:G:A
Gene:: ARHGAP39 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.144548084G>A, NC_000008.10:g.145773468G>A, XM_017013870.3:c.1002C>T, XM_017013870.2:c.1002C>T, XM_017013870.1:c.1002C>T, NM_025251.3:c.1002C>T, NM_025251.2:c.1002C>T, NM_025251.1:c.1002C>T, XM_011517312.2:c.531C>T, XM_011517312.1:c.531C>T, XM_011517308.2:c.1002C>T, XM_011517308.1:c.1002C>T, NM_001308208.2:c.1002C>T, NM_001308208.1:c.1002C>T, NM_001308207.1:c.1002C>T

Select item 14841108508.

rs1484110850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:144547870 (GRCh38)
8:145773254 (GRCh37)
Canonical SPDI:: NC_000008.11:144547869:A:G,NC_000008.11:144547869:A:T
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
G=0.001685/3 (Korea1K)
HGVS:: NC_000008.11:g.144547870A>G, NC_000008.11:g.144547870A>T, NC_000008.10:g.145773254A>G, NC_000008.10:g.145773254A>T, XM_017013870.3:c.1216T>C, XM_017013870.3:c.1216T>A, XM_017013870.2:c.1216T>C, XM_017013870.2:c.1216T>A, XM_017013870.1:c.1216T>C, XM_017013870.1:c.1216T>A, NM_025251.3:c.1216T>C, NM_025251.3:c.1216T>A, NM_025251.2:c.1216T>C, NM_025251.2:c.1216T>A, NM_025251.1:c.1216T>C, NM_025251.1:c.1216T>A, XM_011517312.2:c.745T>C, XM_011517312.2:c.745T>A, XM_011517312.1:c.745T>C, XM_011517312.1:c.745T>A, XM_011517308.2:c.1216T>C, XM_011517308.2:c.1216T>A, XM_011517308.1:c.1216T>C, XM_011517308.1:c.1216T>A, NM_001308208.2:c.1216T>C, NM_001308208.2:c.1216T>A, NM_001308208.1:c.1216T>C, NM_001308208.1:c.1216T>A, NM_001308207.1:c.1216T>C, NM_001308207.1:c.1216T>A, XP_016869359.1:p.Ser406Pro, XP_016869359.1:p.Ser406Thr, NP_079527.1:p.Ser406Pro, NP_079527.1:p.Ser406Thr, XP_011515614.1:p.Ser249Pro, XP_011515614.1:p.Ser249Thr, XP_011515610.1:p.Ser406Pro, XP_011515610.1:p.Ser406Thr, NP_001295137.1:p.Ser406Pro, NP_001295137.1:p.Ser406Thr, NP_001295136.1:p.Ser406Pro, NP_001295136.1:p.Ser406Thr

Select item 14840438679.

rs1484043867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:144548403 (GRCh38)
8:145773787 (GRCh37)
Canonical SPDI:: NC_000008.11:144548402:T:C,NC_000008.11:144548402:T:G
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144548403T>C, NC_000008.11:g.144548403T>G, NC_000008.10:g.145773787T>C, NC_000008.10:g.145773787T>G, XM_017013870.3:c.683A>G, XM_017013870.3:c.683A>C, XM_017013870.2:c.683A>G, XM_017013870.2:c.683A>C, XM_017013870.1:c.683A>G, XM_017013870.1:c.683A>C, NM_025251.3:c.683A>G, NM_025251.3:c.683A>C, NM_025251.2:c.683A>G, NM_025251.2:c.683A>C, NM_025251.1:c.683A>G, NM_025251.1:c.683A>C, XM_011517312.2:c.212A>G, XM_011517312.2:c.212A>C, XM_011517312.1:c.212A>G, XM_011517312.1:c.212A>C, XM_011517308.2:c.683A>G, XM_011517308.2:c.683A>C, XM_011517308.1:c.683A>G, XM_011517308.1:c.683A>C, NM_001308208.2:c.683A>G, NM_001308208.2:c.683A>C, NM_001308208.1:c.683A>G, NM_001308208.1:c.683A>C, NM_001308207.1:c.683A>G, NM_001308207.1:c.683A>C, XP_016869359.1:p.Gln228Arg, XP_016869359.1:p.Gln228Pro, NP_079527.1:p.Gln228Arg, NP_079527.1:p.Gln228Pro, XP_011515614.1:p.Gln71Arg, XP_011515614.1:p.Gln71Pro, XP_011515610.1:p.Gln228Arg, XP_011515610.1:p.Gln228Pro, NP_001295137.1:p.Gln228Arg, NP_001295137.1:p.Gln228Pro, NP_001295136.1:p.Gln228Arg, NP_001295136.1:p.Gln228Pro

Select item 148378324110.

rs1483783241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144555589 (GRCh38)
8:145780973 (GRCh37)
Canonical SPDI:: NC_000008.11:144555588:G:A
Gene:: ARHGAP39 (Varview)
Functional Consequence:: synonymous_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_000008.11:g.144555589G>A, NC_000008.10:g.145780973G>A, XM_017013870.3:c.567C>T, XM_017013870.2:c.567C>T, XM_017013870.1:c.567C>T, NM_025251.3:c.567C>T, NM_025251.2:c.567C>T, NM_025251.1:c.567C>T, XM_011517312.2:c.96C>T, XM_011517312.1:c.96C>T, XM_011517308.2:c.567C>T, XM_011517308.1:c.567C>T, NM_001308208.2:c.567C>T, NM_001308208.1:c.567C>T, NM_001308207.1:c.567C>T

Select item 148364447511.

rs1483644475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144548357 (GRCh38)
8:145773741 (GRCh37)
Canonical SPDI:: NC_000008.11:144548356:G:A
Gene:: ARHGAP39 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144548357G>A, NC_000008.10:g.145773741G>A, XM_017013870.3:c.729C>T, XM_017013870.2:c.729C>T, XM_017013870.1:c.729C>T, NM_025251.3:c.729C>T, NM_025251.2:c.729C>T, NM_025251.1:c.729C>T, XM_011517312.2:c.258C>T, XM_011517312.1:c.258C>T, XM_011517308.2:c.729C>T, XM_011517308.1:c.729C>T, NM_001308208.2:c.729C>T, NM_001308208.1:c.729C>T, NM_001308207.1:c.729C>T

Select item 148255603312.

rs1482556033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144547195 (GRCh38)
8:145772579 (GRCh37)
Canonical SPDI:: NC_000008.11:144547194:G:C
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144547195G>C, NC_000008.10:g.145772579G>C, XM_017013870.3:c.1891C>G, XM_017013870.2:c.1891C>G, XM_017013870.1:c.1891C>G, NM_025251.3:c.1891C>G, NM_025251.2:c.1891C>G, NM_025251.1:c.1891C>G, XM_011517312.2:c.1420C>G, XM_011517312.1:c.1420C>G, XM_011517308.2:c.1891C>G, XM_011517308.1:c.1891C>G, NM_001308208.2:c.1891C>G, NM_001308208.1:c.1891C>G, NM_001308207.1:c.1891C>G, XP_016869359.1:p.Leu631Val, NP_079527.1:p.Leu631Val, XP_011515614.1:p.Leu474Val, XP_011515610.1:p.Leu631Val, NP_001295137.1:p.Leu631Val, NP_001295136.1:p.Leu631Val

Select item 148240687213.

rs1482406872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144537735 (GRCh38)
8:145763119 (GRCh37)
Canonical SPDI:: NC_000008.11:144537734:A:G
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144537735A>G, NC_000008.10:g.145763119A>G, XM_017013870.3:c.2600T>C, XM_017013870.2:c.2600T>C, XM_017013870.1:c.2600T>C, NM_025251.3:c.2600T>C, NM_025251.2:c.2600T>C, NM_025251.1:c.2600T>C, XM_011517312.2:c.2129T>C, XM_011517312.1:c.2129T>C, XM_011517308.2:c.2600T>C, XM_011517308.1:c.2600T>C, XP_016869359.1:p.Val867Ala, NP_079527.1:p.Val867Ala, XP_011515614.1:p.Val710Ala, XP_011515610.1:p.Val867Ala

Select item 148206173614.

rs1482061736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144545408 (GRCh38)
8:145770792 (GRCh37)
Canonical SPDI:: NC_000008.11:144545407:G:T
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.144545408G>T, NC_000008.10:g.145770792G>T, XM_017013870.3:c.2362C>A, XM_017013870.2:c.2362C>A, XM_017013870.1:c.2362C>A, NM_025251.3:c.2362C>A, NM_025251.2:c.2362C>A, NM_025251.1:c.2362C>A, XM_011517312.2:c.1891C>A, XM_011517312.1:c.1891C>A, XM_011517308.2:c.2362C>A, XM_011517308.1:c.2362C>A, NM_001308208.2:c.2362C>A, NM_001308208.1:c.2362C>A, NM_001308207.1:c.2362C>A, XP_016869359.1:p.Leu788Met, NP_079527.1:p.Leu788Met, XP_011515614.1:p.Leu631Met, XP_011515610.1:p.Leu788Met, NP_001295137.1:p.Leu788Met, NP_001295136.1:p.Leu788Met

Select item 148172332615.

rs1481723326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144547653 (GRCh38)
8:145773037 (GRCh37)
Canonical SPDI:: NC_000008.11:144547652:T:C
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144547653T>C, NC_000008.10:g.145773037T>C, XM_017013870.3:c.1433A>G, XM_017013870.2:c.1433A>G, XM_017013870.1:c.1433A>G, NM_025251.3:c.1433A>G, NM_025251.2:c.1433A>G, NM_025251.1:c.1433A>G, XM_011517312.2:c.962A>G, XM_011517312.1:c.962A>G, XM_011517308.2:c.1433A>G, XM_011517308.1:c.1433A>G, NM_001308208.2:c.1433A>G, NM_001308208.1:c.1433A>G, NM_001308207.1:c.1433A>G, XP_016869359.1:p.Gln478Arg, NP_079527.1:p.Gln478Arg, XP_011515614.1:p.Gln321Arg, XP_011515610.1:p.Gln478Arg, NP_001295137.1:p.Gln478Arg, NP_001295136.1:p.Gln478Arg

Select item 148160505416.

rs1481605054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144533147 (GRCh38)
8:145758531 (GRCh37)
Canonical SPDI:: NC_000008.11:144533146:T:C
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.144533147T>C, NC_000008.10:g.145758531T>C, XM_017013870.3:c.2867A>G, XM_017013870.2:c.2867A>G, XM_017013870.1:c.2867A>G, NM_025251.3:c.2867A>G, NM_025251.2:c.2867A>G, NM_025251.1:c.2867A>G, XM_011517312.2:c.2396A>G, XM_011517312.1:c.2396A>G, XM_011517308.2:c.2867A>G, XM_011517308.1:c.2867A>G, NM_001308208.2:c.2774A>G, NM_001308208.1:c.2774A>G, NM_001308207.1:c.2774A>G, XP_016869359.1:p.Asp956Gly, NP_079527.1:p.Asp956Gly, XP_011515614.1:p.Asp799Gly, XP_011515610.1:p.Asp956Gly, NP_001295137.1:p.Asp925Gly, NP_001295136.1:p.Asp925Gly

Select item 148116918017.

rs1481169180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:144547159 (GRCh38)
8:145772543 (GRCh37)
Canonical SPDI:: NC_000008.11:144547158:C:A
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_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_000008.11:g.144547159C>A, NC_000008.10:g.145772543C>A, XM_017013870.3:c.1927G>T, XM_017013870.2:c.1927G>T, XM_017013870.1:c.1927G>T, NM_025251.3:c.1927G>T, NM_025251.2:c.1927G>T, NM_025251.1:c.1927G>T, XM_011517312.2:c.1456G>T, XM_011517312.1:c.1456G>T, XM_011517308.2:c.1927G>T, XM_011517308.1:c.1927G>T, NM_001308208.2:c.1927G>T, NM_001308208.1:c.1927G>T, NM_001308207.1:c.1927G>T, XP_016869359.1:p.Ala643Ser, NP_079527.1:p.Ala643Ser, XP_011515614.1:p.Ala486Ser, XP_011515610.1:p.Ala643Ser, NP_001295137.1:p.Ala643Ser, NP_001295136.1:p.Ala643Ser

Select item 148080843418.

rs1480808434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144547141 (GRCh38)
8:145772525 (GRCh37)
Canonical SPDI:: NC_000008.11:144547140:G:C
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144547141G>C, NC_000008.10:g.145772525G>C, XM_017013870.3:c.1945C>G, XM_017013870.2:c.1945C>G, XM_017013870.1:c.1945C>G, NM_025251.3:c.1945C>G, NM_025251.2:c.1945C>G, NM_025251.1:c.1945C>G, XM_011517312.2:c.1474C>G, XM_011517312.1:c.1474C>G, XM_011517308.2:c.1945C>G, XM_011517308.1:c.1945C>G, NM_001308208.2:c.1945C>G, NM_001308208.1:c.1945C>G, NM_001308207.1:c.1945C>G, XP_016869359.1:p.Leu649Val, NP_079527.1:p.Leu649Val, XP_011515614.1:p.Leu492Val, XP_011515610.1:p.Leu649Val, NP_001295137.1:p.Leu649Val, NP_001295136.1:p.Leu649Val

Select item 148060833919.

rs1480608339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144548194 (GRCh38)
8:145773578 (GRCh37)
Canonical SPDI:: NC_000008.11:144548193:C:T
Gene:: ARHGAP39 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144548194C>T, NC_000008.10:g.145773578C>T, XM_017013870.3:c.892G>A, XM_017013870.2:c.892G>A, XM_017013870.1:c.892G>A, NM_025251.3:c.892G>A, NM_025251.2:c.892G>A, NM_025251.1:c.892G>A, XM_011517312.2:c.421G>A, XM_011517312.1:c.421G>A, XM_011517308.2:c.892G>A, XM_011517308.1:c.892G>A, NM_001308208.2:c.892G>A, NM_001308208.1:c.892G>A, NM_001308207.1:c.892G>A, XP_016869359.1:p.Asp298Asn, NP_079527.1:p.Asp298Asn, XP_011515614.1:p.Asp141Asn, XP_011515610.1:p.Asp298Asn, NP_001295137.1:p.Asp298Asn, NP_001295136.1:p.Asp298Asn

Select item 148018874420.

rs1480188744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144545691 (GRCh38)
8:145771075 (GRCh37)
Canonical SPDI:: NC_000008.11:144545690:G:A
Gene:: ARHGAP39 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144545691G>A, NC_000008.10:g.145771075G>A, XM_017013870.3:c.2079C>T, XM_017013870.2:c.2079C>T, XM_017013870.1:c.2079C>T, NM_025251.3:c.2079C>T, NM_025251.2:c.2079C>T, NM_025251.1:c.2079C>T, XM_011517312.2:c.1608C>T, XM_011517312.1:c.1608C>T, XM_011517308.2:c.2079C>T, XM_011517308.1:c.2079C>T, NM_001308208.2:c.2079C>T, NM_001308208.1:c.2079C>T, NM_001308207.1:c.2079C>T

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Items: 1 to 20 of 1115

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