SNP Links for Protein (Select 767960730) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 1650

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Select item 14906399351.

rs1490639935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:37147388 (GRCh38)
10:37436316 (GRCh37)
Canonical SPDI:: NC_000010.11:37147387:G:T
Gene:: ANKRD30A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0056/25 (ALFA)
HGVS:: NC_000010.11:g.37147388G>T, NC_000010.10:g.37436316G>T, NG_051556.1:g.26647G>T, NM_052997.3:c.1474G>T, NM_052997.2:c.1306G>T, XR_930524.4:n.1664G>T, XR_930524.3:n.1508G>T, XR_930524.2:n.1508G>T, XR_930524.1:n.1520G>T, XM_011519757.4:c.1474G>T, XM_011519757.3:c.1474G>T, XM_011519757.2:c.1474G>T, XM_011519757.1:c.1474G>T, XM_011519758.3:c.1474G>T, XM_011519758.2:c.1474G>T, XM_011519758.1:c.1474G>T, XR_007062015.1:n.1664G>T, XM_047425990.1:c.1474G>T, XM_047425992.1:c.1474G>T, NP_443723.3:p.Ala492Ser, XP_011518059.1:p.Ala492Ser, XP_011518060.1:p.Ala492Ser, XP_047281946.1:p.Ala492Ser, XP_047281948.1:p.Ala492Ser

Select item 14899647592.

rs1489964759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:37219603 (GRCh38)
10:37508531 (GRCh37)
Canonical SPDI:: NC_000010.11:37219602:A:G
Gene:: ANKRD30A (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.37219603A>G, NC_000010.10:g.37508531A>G, NG_051556.1:g.98862A>G, NM_052997.3:c.3891A>G, NM_052997.2:c.3723A>G, XR_930524.4:n.4522A>G, XR_930524.3:n.4366A>G, XR_930524.2:n.4366A>G, XR_930524.1:n.4378A>G, XM_011519757.4:c.4332A>G, XM_011519757.3:c.4332A>G, XM_011519757.2:c.4332A>G, XM_011519757.1:c.4332A>G, XR_007062015.1:n.4522A>G, XM_047425990.1:c.*569A>G

Select item 14895100523.

rs1489510052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:37129986 (GRCh38)
10:37418914 (GRCh37)
Canonical SPDI:: NC_000010.11:37129985:A:C
Gene:: ANKRD30A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.37129986A>C, NC_000010.10:g.37418914A>C, NG_051556.1:g.9245A>C, NM_052997.3:c.315A>C, NM_052997.2:c.147A>C, XR_930524.4:n.505A>C, XR_930524.3:n.349A>C, XR_930524.2:n.349A>C, XR_930524.1:n.361A>C, XM_011519757.4:c.315A>C, XM_011519757.3:c.315A>C, XM_011519757.2:c.315A>C, XM_011519757.1:c.315A>C, XM_011519758.3:c.315A>C, XM_011519758.2:c.315A>C, XM_011519758.1:c.315A>C, XR_007062015.1:n.505A>C, XM_047425990.1:c.315A>C, XM_047425992.1:c.315A>C, NP_443723.3:p.Glu105Asp, XP_011518059.1:p.Glu105Asp, XP_011518060.1:p.Glu105Asp, XP_047281946.1:p.Glu105Asp, XP_047281948.1:p.Glu105Asp

Select item 14884349194.

rs1488434919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:37166608 (GRCh38)
10:37455536 (GRCh37)
Canonical SPDI:: NC_000010.11:37166607:C:G
Gene:: ANKRD30A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000013/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.37166608C>G, NC_000010.10:g.37455536C>G, NG_051556.1:g.45867C>G, NM_052997.3:c.2068C>G, NM_052997.2:c.1900C>G, XR_930524.4:n.2258C>G, XR_930524.3:n.2102C>G, XR_930524.2:n.2102C>G, XR_930524.1:n.2114C>G, XM_011519757.4:c.2068C>G, XM_011519757.3:c.2068C>G, XM_011519757.2:c.2068C>G, XM_011519757.1:c.2068C>G, XM_011519758.3:c.2068C>G, XM_011519758.2:c.2068C>G, XM_011519758.1:c.2068C>G, XR_007062015.1:n.2258C>G, XM_047425990.1:c.2068C>G, XM_047425992.1:c.1711C>G, NP_443723.3:p.Leu690Val, XP_011518059.1:p.Leu690Val, XP_011518060.1:p.Leu690Val, XP_047281946.1:p.Leu690Val, XP_047281948.1:p.Leu571Val

Select item 14881855395.

rs1488185539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:37219308 (GRCh38)
10:37508236 (GRCh37)
Canonical SPDI:: NC_000010.11:37219307:A:G
Gene:: ANKRD30A (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.37219308A>G, NC_000010.10:g.37508236A>G, NG_051556.1:g.98567A>G, NM_052997.3:c.3596A>G, NM_052997.2:c.3428A>G, XR_930524.4:n.4227A>G, XR_930524.3:n.4071A>G, XR_930524.2:n.4071A>G, XR_930524.1:n.4083A>G, XM_011519757.4:c.4037A>G, XM_011519757.3:c.4037A>G, XM_011519757.2:c.4037A>G, XM_011519757.1:c.4037A>G, XR_007062015.1:n.4227A>G, XM_047425990.1:c.*274A>G, NP_443723.3:p.His1199Arg, XP_011518059.1:p.His1346Arg

Select item 14874847086.

rs1487484708 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 10:37219688 (GRCh38)
10:37508617 (GRCh37)
Canonical SPDI:: NC_000010.11:37219688:T:TTTT
Gene:: ANKRD30A (Varview)
Functional Consequence:: inframe_insertion,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
TTT=0.000007/1 (GnomAD)
TTT=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.37219689_37219690insTTT, NC_000010.10:g.37508617_37508618insTTT, NG_051556.1:g.98948_98949insTTT, NM_052997.3:c.3977_3978insTTT, NM_052997.2:c.3809_3810insTTT, XR_930524.4:n.4608_4609insTTT, XR_930524.3:n.4452_4453insTTT, XR_930524.2:n.4452_4453insTTT, XR_930524.1:n.4464_4465insTTT, XM_011519757.4:c.4418_4419insTTT, XM_011519757.3:c.4418_4419insTTT, XM_011519757.2:c.4418_4419insTTT, XM_011519757.1:c.4418_4419insTTT, XR_007062015.1:n.4608_4609insTTT, NP_443723.3:p.Leu1326dup, XP_011518059.1:p.Leu1473dup

Select item 14870952927.

rs1487095292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:37216315 (GRCh38)
10:37505243 (GRCh37)
Canonical SPDI:: NC_000010.11:37216314:A:G
Gene:: ANKRD30A (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.37216315A>G, NC_000010.10:g.37505243A>G, NG_051556.1:g.95574A>G, NM_052997.3:c.3004A>G, NM_052997.2:c.2836A>G, XR_930524.4:n.3635A>G, XR_930524.3:n.3479A>G, XR_930524.2:n.3479A>G, XR_930524.1:n.3491A>G, XM_011519757.4:c.3445A>G, XM_011519757.3:c.3445A>G, XM_011519757.2:c.3445A>G, XM_011519757.1:c.3445A>G, XM_011519758.3:c.3445A>G, XM_011519758.2:c.3445A>G, XM_011519758.1:c.3445A>G, XR_007062015.1:n.3635A>G, XM_047425990.1:c.3403A>G, XM_047425992.1:c.3046A>G, NP_443723.3:p.Lys1002Glu, XP_011518059.1:p.Lys1149Glu, XP_011518060.1:p.Lys1149Glu, XP_047281946.1:p.Lys1135Glu, XP_047281948.1:p.Lys1016Glu

Select item 14870692948.

rs1487069294 [Homo sapiens]

Variant type:: DEL
Alleles:: CAA>- [Show Flanks]
Chromosome:: 10:37147397 (GRCh38)
10:37436325 (GRCh37)
Canonical SPDI:: NC_000010.11:37147396:CAA:
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0034/15 (ALFA)
HGVS:: NC_000010.11:g.37147397_37147399del, NC_000010.10:g.37436325_37436327del, NG_051556.1:g.26656_26658del, NM_052997.3:c.1483_1485del, NM_052997.2:c.1315_1317del, XR_930524.4:n.1673_1675del, XR_930524.3:n.1517_1519del, XR_930524.2:n.1517_1519del, XR_930524.1:n.1529_1531del, XM_011519757.4:c.1483_1485del, XM_011519757.3:c.1483_1485del, XM_011519757.2:c.1483_1485del, XM_011519757.1:c.1483_1485del, XM_011519758.3:c.1483_1485del, XM_011519758.2:c.1483_1485del, XM_011519758.1:c.1483_1485del, XR_007062015.1:n.1673_1675del, XM_047425990.1:c.1483_1485del, XM_047425992.1:c.1483_1485del, NP_443723.3:p.Gln495del, XP_011518059.1:p.Gln495del, XP_011518060.1:p.Gln495del, XP_047281946.1:p.Gln495del, XP_047281948.1:p.Gln495del

Select item 14862478029.

rs1486247802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:37216256 (GRCh38)
10:37505184 (GRCh37)
Canonical SPDI:: NC_000010.11:37216255:G:T
Gene:: ANKRD30A (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 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.37216256G>T, NC_000010.10:g.37505184G>T, NG_051556.1:g.95515G>T, NM_052997.3:c.2945G>T, NM_052997.2:c.2777G>T, XR_930524.4:n.3576G>T, XR_930524.3:n.3420G>T, XR_930524.2:n.3420G>T, XR_930524.1:n.3432G>T, XM_011519757.4:c.3386G>T, XM_011519757.3:c.3386G>T, XM_011519757.2:c.3386G>T, XM_011519757.1:c.3386G>T, XM_011519758.3:c.3386G>T, XM_011519758.2:c.3386G>T, XM_011519758.1:c.3386G>T, XR_007062015.1:n.3576G>T, XM_047425990.1:c.3344G>T, XM_047425992.1:c.2987G>T, NP_443723.3:p.Cys982Phe, XP_011518059.1:p.Cys1129Phe, XP_011518060.1:p.Cys1129Phe, XP_047281946.1:p.Cys1115Phe, XP_047281948.1:p.Cys996Phe

Select item 148612283210.

rs1486122832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:37142137 (GRCh38)
10:37431065 (GRCh37)
Canonical SPDI:: NC_000010.11:37142136:C:T
Gene:: ANKRD30A (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=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.37142137C>T, NC_000010.10:g.37431065C>T, NG_051556.1:g.21396C>T, NM_052997.3:c.1240C>T, NM_052997.2:c.1072C>T, XR_930524.4:n.1430C>T, XR_930524.3:n.1274C>T, XR_930524.2:n.1274C>T, XR_930524.1:n.1286C>T, XM_011519757.4:c.1240C>T, XM_011519757.3:c.1240C>T, XM_011519757.2:c.1240C>T, XM_011519757.1:c.1240C>T, XM_011519758.3:c.1240C>T, XM_011519758.2:c.1240C>T, XM_011519758.1:c.1240C>T, XR_007062015.1:n.1430C>T, XM_047425990.1:c.1240C>T, XM_047425992.1:c.1240C>T, NP_443723.3:p.Pro414Ser, XP_011518059.1:p.Pro414Ser, XP_011518060.1:p.Pro414Ser, XP_047281946.1:p.Pro414Ser, XP_047281948.1:p.Pro414Ser

Select item 148597341511.

rs1485973415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:37221415 (GRCh38)
10:37510343 (GRCh37)
Canonical SPDI:: NC_000010.11:37221414:A:G
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.37221415A>G, NC_000010.10:g.37510343A>G, NG_051556.1:g.100674A>G, XM_011519757.4:c.4717A>G, XM_011519757.3:c.4717A>G, XM_011519757.2:c.4717A>G, XM_011519757.1:c.4717A>G, XP_011518059.1:p.Ile1573Val

Select item 148568191112.

rs1485681911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:37219564 (GRCh38)
10:37508492 (GRCh37)
Canonical SPDI:: NC_000010.11:37219563:A:C,NC_000010.11:37219563:A:G
Gene:: ANKRD30A (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.37219564A>C, NC_000010.11:g.37219564A>G, NC_000010.10:g.37508492A>C, NC_000010.10:g.37508492A>G, NG_051556.1:g.98823A>C, NG_051556.1:g.98823A>G, NM_052997.3:c.3852A>C, NM_052997.3:c.3852A>G, NM_052997.2:c.3684A>C, NM_052997.2:c.3684A>G, XR_930524.4:n.4483A>C, XR_930524.4:n.4483A>G, XR_930524.3:n.4327A>C, XR_930524.3:n.4327A>G, XR_930524.2:n.4327A>C, XR_930524.2:n.4327A>G, XR_930524.1:n.4339A>C, XR_930524.1:n.4339A>G, XM_011519757.4:c.4293A>C, XM_011519757.4:c.4293A>G, XM_011519757.3:c.4293A>C, XM_011519757.3:c.4293A>G, XM_011519757.2:c.4293A>C, XM_011519757.2:c.4293A>G, XM_011519757.1:c.4293A>C, XM_011519757.1:c.4293A>G, XR_007062015.1:n.4483A>C, XR_007062015.1:n.4483A>G, XM_047425990.1:c.*530A>C, XM_047425990.1:c.*530A>G

Select item 148556603013.

rs1485566030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:37129905 (GRCh38)
10:37418833 (GRCh37)
Canonical SPDI:: NC_000010.11:37129904:C:T
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.37129905C>T, NC_000010.10:g.37418833C>T, NG_051556.1:g.9164C>T, NM_052997.3:c.234C>T, NM_052997.2:c.66C>T, XR_930524.4:n.424C>T, XR_930524.3:n.268C>T, XR_930524.2:n.268C>T, XR_930524.1:n.280C>T, XM_011519757.4:c.234C>T, XM_011519757.3:c.234C>T, XM_011519757.2:c.234C>T, XM_011519757.1:c.234C>T, XM_011519758.3:c.234C>T, XM_011519758.2:c.234C>T, XM_011519758.1:c.234C>T, XR_007062015.1:n.424C>T, XM_047425990.1:c.234C>T, XM_047425992.1:c.234C>T

Select item 148512032414.

rs1485120324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:37199727 (GRCh38)
10:37488655 (GRCh37)
Canonical SPDI:: NC_000010.11:37199726:A:T
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.37199727A>T, NC_000010.10:g.37488655A>T, NG_051556.1:g.78986A>T, NM_052997.3:c.2717A>T, NM_052997.2:c.2549A>T, XR_930524.4:n.3348A>T, XR_930524.3:n.3192A>T, XR_930524.2:n.3192A>T, XR_930524.1:n.3204A>T, XM_011519757.4:c.3158A>T, XM_011519757.3:c.3158A>T, XM_011519757.2:c.3158A>T, XM_011519757.1:c.3158A>T, XM_011519758.3:c.3158A>T, XM_011519758.2:c.3158A>T, XM_011519758.1:c.3158A>T, XR_007062015.1:n.3348A>T, XM_047425990.1:c.3116A>T, XM_047425992.1:c.2759A>T, NP_443723.3:p.Asp906Val, XP_011518059.1:p.Asp1053Val, XP_011518060.1:p.Asp1053Val, XP_047281946.1:p.Asp1039Val, XP_047281948.1:p.Asp920Val

Select item 148378797415.

rs1483787974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:37129925 (GRCh38)
10:37418853 (GRCh37)
Canonical SPDI:: NC_000010.11:37129924:A:G,NC_000010.11:37129924:A:T
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.37129925A>G, NC_000010.11:g.37129925A>T, NC_000010.10:g.37418853A>G, NC_000010.10:g.37418853A>T, NG_051556.1:g.9184A>G, NG_051556.1:g.9184A>T, NM_052997.3:c.254A>G, NM_052997.3:c.254A>T, NM_052997.2:c.86A>G, NM_052997.2:c.86A>T, XR_930524.4:n.444A>G, XR_930524.4:n.444A>T, XR_930524.3:n.288A>G, XR_930524.3:n.288A>T, XR_930524.2:n.288A>G, XR_930524.2:n.288A>T, XR_930524.1:n.300A>G, XR_930524.1:n.300A>T, XM_011519757.4:c.254A>G, XM_011519757.4:c.254A>T, XM_011519757.3:c.254A>G, XM_011519757.3:c.254A>T, XM_011519757.2:c.254A>G, XM_011519757.2:c.254A>T, XM_011519757.1:c.254A>G, XM_011519757.1:c.254A>T, XM_011519758.3:c.254A>G, XM_011519758.3:c.254A>T, XM_011519758.2:c.254A>G, XM_011519758.2:c.254A>T, XM_011519758.1:c.254A>G, XM_011519758.1:c.254A>T, XR_007062015.1:n.444A>G, XR_007062015.1:n.444A>T, XM_047425990.1:c.254A>G, XM_047425990.1:c.254A>T, XM_047425992.1:c.254A>G, XM_047425992.1:c.254A>T, NP_443723.3:p.His85Arg, NP_443723.3:p.His85Leu, XP_011518059.1:p.His85Arg, XP_011518059.1:p.His85Leu, XP_011518060.1:p.His85Arg, XP_011518060.1:p.His85Leu, XP_047281946.1:p.His85Arg, XP_047281946.1:p.His85Leu, XP_047281948.1:p.His85Arg, XP_047281948.1:p.His85Leu

Select item 148337687416.

rs1483376874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:37165148 (GRCh38)
10:37454076 (GRCh37)
Canonical SPDI:: NC_000010.11:37165147:A:T
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.37165148A>T, NC_000010.10:g.37454076A>T, NG_051556.1:g.44407A>T, NM_052997.3:c.2057A>T, NM_052997.2:c.1889A>T, XR_930524.4:n.2247A>T, XR_930524.3:n.2091A>T, XR_930524.2:n.2091A>T, XR_930524.1:n.2103A>T, XM_011519757.4:c.2057A>T, XM_011519757.3:c.2057A>T, XM_011519757.2:c.2057A>T, XM_011519757.1:c.2057A>T, XM_011519758.3:c.2057A>T, XM_011519758.2:c.2057A>T, XM_011519758.1:c.2057A>T, XR_007062015.1:n.2247A>T, XM_047425990.1:c.2057A>T, XM_047425992.1:c.1700A>T, NP_443723.3:p.Asp686Val, XP_011518059.1:p.Asp686Val, XP_011518060.1:p.Asp686Val, XP_047281946.1:p.Asp686Val, XP_047281948.1:p.Asp567Val

Select item 148318811417.

rs1483188114 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCATCGAAGTGCA>- [Show Flanks]
Chromosome:: 10:37130358 (GRCh38)
10:37419286 (GRCh37)
Canonical SPDI:: NC_000010.11:37130352:GTGCAGTCATCGAAGTGCA:GTGCA
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGCA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.37130358_37130371del, NC_000010.10:g.37419286_37419299del, NG_051556.1:g.9617_9630del, NM_052997.3:c.490_503del, NM_052997.2:c.322_335del, XR_930524.4:n.680_693del, XR_930524.3:n.524_537del, XR_930524.2:n.524_537del, XR_930524.1:n.536_549del, XM_011519757.4:c.490_503del, XM_011519757.3:c.490_503del, XM_011519757.2:c.490_503del, XM_011519757.1:c.490_503del, XM_011519758.3:c.490_503del, XM_011519758.2:c.490_503del, XM_011519758.1:c.490_503del, XR_007062015.1:n.680_693del, XM_047425990.1:c.490_503del, XM_047425992.1:c.490_503del, NP_443723.3:p.Val164fs, XP_011518059.1:p.Val164fs, XP_011518060.1:p.Val164fs, XP_047281946.1:p.Val164fs, XP_047281948.1:p.Val164fs

Select item 148294287718.

rs1482942877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:37147414 (GRCh38)
10:37436342 (GRCh37)
Canonical SPDI:: NC_000010.11:37147413:G:A
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.37147414G>A, NC_000010.10:g.37436342G>A, NG_051556.1:g.26673G>A, NM_052997.3:c.1500G>A, NM_052997.2:c.1332G>A, XR_930524.4:n.1690G>A, XR_930524.3:n.1534G>A, XR_930524.2:n.1534G>A, XR_930524.1:n.1546G>A, XM_011519757.4:c.1500G>A, XM_011519757.3:c.1500G>A, XM_011519757.2:c.1500G>A, XM_011519757.1:c.1500G>A, XM_011519758.3:c.1500G>A, XM_011519758.2:c.1500G>A, XM_011519758.1:c.1500G>A, XR_007062015.1:n.1690G>A, XM_047425990.1:c.1500G>A, XM_047425992.1:c.1500G>A

Select item 148291642219.

rs1482916422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:37219669 (GRCh38)
10:37508597 (GRCh37)
Canonical SPDI:: NC_000010.11:37219668:A:G
Gene:: ANKRD30A (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.37219669A>G, NC_000010.10:g.37508597A>G, NG_051556.1:g.98928A>G, NM_052997.3:c.3957A>G, NM_052997.2:c.3789A>G, XR_930524.4:n.4588A>G, XR_930524.3:n.4432A>G, XR_930524.2:n.4432A>G, XR_930524.1:n.4444A>G, XM_011519757.4:c.4398A>G, XM_011519757.3:c.4398A>G, XM_011519757.2:c.4398A>G, XM_011519757.1:c.4398A>G, XR_007062015.1:n.4588A>G

Select item 148234454120.

rs1482344541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:37177669 (GRCh38)
10:37466597 (GRCh37)
Canonical SPDI:: NC_000010.11:37177668:C:T
Gene:: ANKRD30A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0002/1 (1000Genomes)
HGVS:: NC_000010.11:g.37177669C>T, NC_000010.10:g.37466597C>T, NG_051556.1:g.56928C>T, XR_930524.4:n.2657C>T, XR_930524.3:n.2501C>T, XR_930524.2:n.2501C>T, XR_930524.1:n.2513C>T, XM_011519757.4:c.2467C>T, XM_011519757.3:c.2467C>T, XM_011519757.2:c.2467C>T, XM_011519757.1:c.2467C>T, XM_011519758.3:c.2467C>T, XM_011519758.2:c.2467C>T, XM_011519758.1:c.2467C>T, XR_007062015.1:n.2657C>T, XM_047425990.1:c.2467C>T, XM_047425992.1:c.2110C>T, XP_011518059.1:p.Leu823Phe, XP_011518060.1:p.Leu823Phe, XP_047281946.1:p.Leu823Phe, XP_047281948.1:p.Leu704Phe

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