SNP Links for Protein (Select 14790124) - SNP

Links from Protein

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Select item 14875928091.

rs1487592809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:15493006 (GRCh38)
1:15819501 (GRCh37)
Canonical SPDI:: NC_000001.11:15493005:A:T
Gene:: CASP9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15493006A>T, NC_000001.10:g.15819501A>T, NG_029188.1:g.36785T>A, NM_001229.5:c.1188T>A, NM_001229.4:c.1188T>A, NM_032996.3:c.939T>A, NR_102732.2:n.1261T>A, NR_102732.1:n.1491T>A, NR_102733.2:n.1063T>A, NR_102733.1:n.1293T>A, NM_001278054.2:c.738T>A, NM_001278054.1:c.738T>A, XM_011542273.4:c.*778T>A, XM_005246014.3:c.939T>A, XM_005246014.2:c.939T>A, XM_005246014.1:c.939T>A, XM_047432034.1:c.741T>A

Select item 14875119192.

rs1487511919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15495406 (GRCh38)
1:15821901 (GRCh37)
Canonical SPDI:: NC_000001.11:15495405:G:A
Gene:: CASP9 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000021/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15495406G>A, NC_000001.10:g.15821901G>A, NG_029188.1:g.34385C>T, NM_001229.5:c.915C>T, NM_001229.4:c.915C>T, NM_032996.3:c.666C>T, NR_102732.2:n.988C>T, NR_102732.1:n.1218C>T, NR_102733.2:n.790C>T, NR_102733.1:n.1020C>T, NM_001278054.2:c.465C>T, NM_001278054.1:c.465C>T, XM_011542273.4:c.915C>T, XM_011542273.3:c.915C>T, XM_011542273.2:c.915C>T, XM_011542273.1:c.915C>T, XM_005246014.3:c.666C>T, XM_005246014.2:c.666C>T, XM_005246014.1:c.666C>T, XM_047432034.1:c.468C>T, XR_007064158.1:n.692C>T

Select item 14841899573.

rs1484189957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:15504642 (GRCh38)
1:15831137 (GRCh37)
Canonical SPDI:: NC_000001.11:15504641:G:C
Gene:: CASP9 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15504642G>C, NC_000001.10:g.15831137G>C, NG_029188.1:g.25149C>G, NM_001229.5:c.837C>G, NM_001229.4:c.837C>G, NM_032996.3:c.588C>G, NR_102732.2:n.910C>G, NR_102732.1:n.1140C>G, NR_102733.2:n.712C>G, NR_102733.1:n.942C>G, XM_011542273.4:c.837C>G, XM_011542273.3:c.837C>G, XM_011542273.2:c.837C>G, XM_011542273.1:c.837C>G, XM_005246014.3:c.588C>G, XM_005246014.2:c.588C>G, XM_005246014.1:c.588C>G, XM_047432034.1:c.390C>G

Select item 14825841804.

rs1482584180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15507028 (GRCh38)
1:15833523 (GRCh37)
Canonical SPDI:: NC_000001.11:15507027:G:A
Gene:: CASP9 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15507028G>A, NC_000001.10:g.15833523G>A, NG_029188.1:g.22763C>T, NM_001229.5:c.501C>T, NM_001229.4:c.501C>T, NM_032996.3:c.252C>T, NR_102732.2:n.574C>T, NR_102732.1:n.804C>T, NR_102733.2:n.376C>T, NR_102733.1:n.606C>T, XM_011542273.4:c.501C>T, XM_011542273.3:c.501C>T, XM_011542273.2:c.501C>T, XM_011542273.1:c.501C>T, XM_005246014.3:c.252C>T, XM_005246014.2:c.252C>T, XM_005246014.1:c.252C>T, XM_047432034.1:c.54C>T, XR_007064158.1:n.516C>T

Select item 14814968815.

rs1481496881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:15524187 (GRCh38)
1:15850682 (GRCh37)
Canonical SPDI:: NC_000001.11:15524186:T:A,NC_000001.11:15524186:T:G
Gene:: CASP9 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15524187T>A, NC_000001.11:g.15524187T>G, NC_000001.10:g.15850682T>A, NC_000001.10:g.15850682T>G, NG_029188.1:g.5604A>T, NG_029188.1:g.5604A>C, NM_001229.5:c.14A>T, NM_001229.5:c.14A>C, NM_001229.4:c.14A>T, NM_001229.4:c.14A>C, NR_102732.2:n.29A>T, NR_102732.2:n.29A>C, NR_102732.1:n.259A>T, NR_102732.1:n.259A>C, NR_102733.2:n.29A>T, NR_102733.2:n.29A>C, NR_102733.1:n.259A>T, NR_102733.1:n.259A>C, NM_001278054.2:c.14A>T, NM_001278054.2:c.14A>C, NM_001278054.1:c.14A>T, NM_001278054.1:c.14A>C, XM_011542273.4:c.14A>T, XM_011542273.4:c.14A>C, XM_011542273.3:c.14A>T, XM_011542273.3:c.14A>C, XM_011542273.2:c.14A>T, XM_011542273.2:c.14A>C, XM_011542273.1:c.14A>T, XM_011542273.1:c.14A>C, XR_007064158.1:n.29A>T, XR_007064158.1:n.29A>C, NP_001220.2:p.Asp5Val, NP_001220.2:p.Asp5Ala, NP_001264983.1:p.Asp5Val, NP_001264983.1:p.Asp5Ala, XP_011540575.1:p.Asp5Val, XP_011540575.1:p.Asp5Ala

Select item 14810288326.

rs1481028832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15493027 (GRCh38)
1:15819522 (GRCh37)
Canonical SPDI:: NC_000001.11:15493026:A:G
Gene:: CASP9 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15493027A>G, NC_000001.10:g.15819522A>G, NG_029188.1:g.36764T>C, NM_001229.5:c.1167T>C, NM_001229.4:c.1167T>C, NM_032996.3:c.918T>C, NR_102732.2:n.1240T>C, NR_102732.1:n.1470T>C, NR_102733.2:n.1042T>C, NR_102733.1:n.1272T>C, NM_001278054.2:c.717T>C, NM_001278054.1:c.717T>C, XM_011542273.4:c.*757T>C, XM_005246014.3:c.918T>C, XM_005246014.2:c.918T>C, XM_005246014.1:c.918T>C, XM_047432034.1:c.720T>C

Select item 14803183517.

rs1480318351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15493010 (GRCh38)
1:15819505 (GRCh37)
Canonical SPDI:: NC_000001.11:15493009:C:T
Gene:: CASP9 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_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_000001.11:g.15493010C>T, NC_000001.10:g.15819505C>T, NG_029188.1:g.36781G>A, NM_001229.5:c.1184G>A, NM_001229.4:c.1184G>A, NM_032996.3:c.935G>A, NR_102732.2:n.1257G>A, NR_102732.1:n.1487G>A, NR_102733.2:n.1059G>A, NR_102733.1:n.1289G>A, NM_001278054.2:c.734G>A, NM_001278054.1:c.734G>A, XM_011542273.4:c.*774G>A, XM_005246014.3:c.935G>A, XM_005246014.2:c.935G>A, XM_005246014.1:c.935G>A, XM_047432034.1:c.737G>A, NP_001220.2:p.Gly395Glu, NP_127463.2:p.Gly312Glu, NP_001264983.1:p.Gly245Glu, XP_005246071.1:p.Gly312Glu, XP_047287990.1:p.Gly246Glu

Select item 14757272218.

rs1475727221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15504678 (GRCh38)
1:15831173 (GRCh37)
Canonical SPDI:: NC_000001.11:15504677:G:A
Gene:: CASP9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000001.11:g.15504678G>A, NC_000001.10:g.15831173G>A, NG_029188.1:g.25113C>T, NM_001229.5:c.801C>T, NM_001229.4:c.801C>T, NM_032996.3:c.552C>T, NR_102732.2:n.874C>T, NR_102732.1:n.1104C>T, NR_102733.2:n.676C>T, NR_102733.1:n.906C>T, XM_011542273.4:c.801C>T, XM_011542273.3:c.801C>T, XM_011542273.2:c.801C>T, XM_011542273.1:c.801C>T, XM_005246014.3:c.552C>T, XM_005246014.2:c.552C>T, XM_005246014.1:c.552C>T, XM_047432034.1:c.354C>T

Select item 14728192249.

rs1472819224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:15493016 (GRCh38)
1:15819511 (GRCh37)
Canonical SPDI:: NC_000001.11:15493015:A:C
Gene:: CASP9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.15493016A>C, NC_000001.10:g.15819511A>C, NG_029188.1:g.36775T>G, NM_001229.5:c.1178T>G, NM_001229.4:c.1178T>G, NM_032996.3:c.929T>G, NR_102732.2:n.1251T>G, NR_102732.1:n.1481T>G, NR_102733.2:n.1053T>G, NR_102733.1:n.1283T>G, NM_001278054.2:c.728T>G, NM_001278054.1:c.728T>G, XM_011542273.4:c.*768T>G, XM_005246014.3:c.929T>G, XM_005246014.2:c.929T>G, XM_005246014.1:c.929T>G, XM_047432034.1:c.731T>G, NP_001220.2:p.Val393Gly, NP_127463.2:p.Val310Gly, NP_001264983.1:p.Val243Gly, XP_005246071.1:p.Val310Gly, XP_047287990.1:p.Val244Gly

Select item 147183609210.

rs1471836092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15493975 (GRCh38)
1:15820470 (GRCh37)
Canonical SPDI:: NC_000001.11:15493974:T:C
Gene:: CASP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.15493975T>C, NC_000001.10:g.15820470T>C, NG_029188.1:g.35816A>G, NM_001229.5:c.1075A>G, NM_001229.4:c.1075A>G, NM_032996.3:c.826A>G, NR_102732.2:n.1148A>G, NR_102732.1:n.1378A>G, NR_102733.2:n.950A>G, NR_102733.1:n.1180A>G, NM_001278054.2:c.625A>G, NM_001278054.1:c.625A>G, XM_011542273.4:c.1075A>G, XM_011542273.3:c.1075A>G, XM_011542273.2:c.1075A>G, XM_011542273.1:c.1075A>G, XM_005246014.3:c.826A>G, XM_005246014.2:c.826A>G, XM_005246014.1:c.826A>G, XM_047432034.1:c.628A>G, XR_007064158.1:n.852A>G, NP_001220.2:p.Ser359Gly, NP_127463.2:p.Ser276Gly, NP_001264983.1:p.Ser209Gly, XP_011540575.1:p.Ser359Gly, XP_005246071.1:p.Ser276Gly, XP_047287990.1:p.Ser210Gly

Select item 147098310011.

rs1470983100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:15524140 (GRCh38)
1:15850635 (GRCh37)
Canonical SPDI:: NC_000001.11:15524139:G:C
Gene:: CASP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000001.11:g.15524140G>C, NC_000001.10:g.15850635G>C, NG_029188.1:g.5651C>G, NM_001229.5:c.61C>G, NM_001229.4:c.61C>G, NR_102732.2:n.76C>G, NR_102732.1:n.306C>G, NR_102733.2:n.76C>G, NR_102733.1:n.306C>G, NM_001278054.2:c.61C>G, NM_001278054.1:c.61C>G, XM_011542273.4:c.61C>G, XM_011542273.3:c.61C>G, XM_011542273.2:c.61C>G, XM_011542273.1:c.61C>G, XR_007064158.1:n.76C>G, NP_001220.2:p.Gln21Glu, NP_001264983.1:p.Gln21Glu, XP_011540575.1:p.Gln21Glu

Select item 147063157612.

rs1470631576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15493986 (GRCh38)
1:15820481 (GRCh37)
Canonical SPDI:: NC_000001.11:15493985:C:T
Gene:: CASP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.15493986C>T, NC_000001.10:g.15820481C>T, NG_029188.1:g.35805G>A, NM_001229.5:c.1064G>A, NM_001229.4:c.1064G>A, NM_032996.3:c.815G>A, NR_102732.2:n.1137G>A, NR_102732.1:n.1367G>A, NR_102733.2:n.939G>A, NR_102733.1:n.1169G>A, NM_001278054.2:c.614G>A, NM_001278054.1:c.614G>A, XM_011542273.4:c.1064G>A, XM_011542273.3:c.1064G>A, XM_011542273.2:c.1064G>A, XM_011542273.1:c.1064G>A, XM_005246014.3:c.815G>A, XM_005246014.2:c.815G>A, XM_005246014.1:c.815G>A, XM_047432034.1:c.617G>A, XR_007064158.1:n.841G>A, NP_001220.2:p.Arg355Lys, NP_127463.2:p.Arg272Lys, NP_001264983.1:p.Arg205Lys, XP_011540575.1:p.Arg355Lys, XP_005246071.1:p.Arg272Lys, XP_047287990.1:p.Arg206Lys

Select item 146866562013.

rs1468665620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15524096 (GRCh38)
1:15850591 (GRCh37)
Canonical SPDI:: NC_000001.11:15524095:G:A
Gene:: CASP9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.15524096G>A, NC_000001.10:g.15850591G>A, NG_029188.1:g.5695C>T, NM_001229.5:c.105C>T, NM_001229.4:c.105C>T, NR_102732.2:n.120C>T, NR_102732.1:n.350C>T, NR_102733.2:n.120C>T, NR_102733.1:n.350C>T, NM_001278054.2:c.105C>T, NM_001278054.1:c.105C>T, XM_011542273.4:c.105C>T, XM_011542273.3:c.105C>T, XM_011542273.2:c.105C>T, XM_011542273.1:c.105C>T, XR_007064158.1:n.120C>T

Select item 146783231314.

rs1467832313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15518279 (GRCh38)
1:15844774 (GRCh37)
Canonical SPDI:: NC_000001.11:15518278:G:A
Gene:: CASP9 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15518279G>A, NC_000001.10:g.15844774G>A, NG_029188.1:g.11512C>T, NM_001229.5:c.249C>T, NM_001229.4:c.249C>T, NM_032996.3:c.-1C>T, NR_102732.2:n.264C>T, NR_102732.1:n.494C>T, NR_102733.2:n.264C>T, NR_102733.1:n.494C>T, NM_001278054.2:c.249C>T, NM_001278054.1:c.249C>T, XM_011542273.4:c.249C>T, XM_011542273.3:c.249C>T, XM_011542273.2:c.249C>T, XM_011542273.1:c.249C>T, XM_005246014.3:c.-1C>T, XM_005246014.2:c.-1C>T, XM_005246014.1:c.-1C>T, XM_047432034.1:c.-164C>T, XR_007064158.1:n.264C>T

Select item 146718874015.

rs1467188740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15506953 (GRCh38)
1:15833448 (GRCh37)
Canonical SPDI:: NC_000001.11:15506952:A:G
Gene:: CASP9 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15506953A>G, NC_000001.10:g.15833448A>G, NG_029188.1:g.22838T>C, NM_001229.5:c.576T>C, NM_001229.4:c.576T>C, NM_032996.3:c.327T>C, NR_102732.2:n.649T>C, NR_102732.1:n.879T>C, NR_102733.2:n.451T>C, NR_102733.1:n.681T>C, XM_011542273.4:c.576T>C, XM_011542273.3:c.576T>C, XM_011542273.2:c.576T>C, XM_011542273.1:c.576T>C, XM_005246014.3:c.327T>C, XM_005246014.2:c.327T>C, XM_005246014.1:c.327T>C, XM_047432034.1:c.129T>C, XR_007064158.1:n.591T>C

Select item 146672145416.

rs1466721454 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:15504647 (GRCh38)
1:15831143 (GRCh37)
Canonical SPDI:: NC_000001.11:15504647:CCC:CCCC
Gene:: CASP9 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15504650dup, NC_000001.10:g.15831145dup, NG_029188.1:g.25143dup, NM_001229.5:c.831dup, NM_001229.4:c.831dup, NM_032996.3:c.582dup, NR_102732.2:n.904dup, NR_102732.1:n.1134dup, NR_102733.2:n.706dup, NR_102733.1:n.936dup, XM_011542273.4:c.831dup, XM_011542273.3:c.831dup, XM_011542273.2:c.831dup, XM_011542273.1:c.831dup, XM_005246014.3:c.582dup, XM_005246014.2:c.582dup, XM_005246014.1:c.582dup, XM_047432034.1:c.384dup, NP_001220.2:p.Lys278fs, NP_127463.2:p.Lys195fs, XP_011540575.1:p.Lys278fs, XP_005246071.1:p.Lys195fs, XP_047287990.1:p.Lys129fs

Select item 146626923717.

rs1466269237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15506963 (GRCh38)
1:15833458 (GRCh37)
Canonical SPDI:: NC_000001.11:15506962:T:C
Gene:: CASP9 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15506963T>C, NC_000001.10:g.15833458T>C, NG_029188.1:g.22828A>G, NM_001229.5:c.566A>G, NM_001229.4:c.566A>G, NM_032996.3:c.317A>G, NR_102732.2:n.639A>G, NR_102732.1:n.869A>G, NR_102733.2:n.441A>G, NR_102733.1:n.671A>G, XM_011542273.4:c.566A>G, XM_011542273.3:c.566A>G, XM_011542273.2:c.566A>G, XM_011542273.1:c.566A>G, XM_005246014.3:c.317A>G, XM_005246014.2:c.317A>G, XM_005246014.1:c.317A>G, XM_047432034.1:c.119A>G, XR_007064158.1:n.581A>G, NP_001220.2:p.Lys189Arg, NP_127463.2:p.Lys106Arg, XP_011540575.1:p.Lys189Arg, XP_005246071.1:p.Lys106Arg, XP_047287990.1:p.Lys40Arg

Select item 146319080718.

rs1463190807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:15504712 (GRCh38)
1:15831207 (GRCh37)
Canonical SPDI:: NC_000001.11:15504711:C:A
Gene:: CASP9 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15504712C>A, NC_000001.10:g.15831207C>A, NG_029188.1:g.25079G>T, NM_001229.5:c.767G>T, NM_001229.4:c.767G>T, NM_032996.3:c.518G>T, NR_102732.2:n.840G>T, NR_102732.1:n.1070G>T, NR_102733.2:n.642G>T, NR_102733.1:n.872G>T, XM_011542273.4:c.767G>T, XM_011542273.3:c.767G>T, XM_011542273.2:c.767G>T, XM_011542273.1:c.767G>T, XM_005246014.3:c.518G>T, XM_005246014.2:c.518G>T, XM_005246014.1:c.518G>T, XM_047432034.1:c.320G>T, NP_001220.2:p.Cys256Phe, NP_127463.2:p.Cys173Phe, XP_011540575.1:p.Cys256Phe, XP_005246071.1:p.Cys173Phe, XP_047287990.1:p.Cys107Phe

Select item 146294469419.

rs1462944694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15493032 (GRCh38)
1:15819527 (GRCh37)
Canonical SPDI:: NC_000001.11:15493031:C:T
Gene:: CASP9 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15493032C>T, NC_000001.10:g.15819527C>T, NG_029188.1:g.36759G>A, NM_001229.5:c.1162G>A, NM_001229.4:c.1162G>A, NM_032996.3:c.913G>A, NR_102732.2:n.1235G>A, NR_102732.1:n.1465G>A, NR_102733.2:n.1037G>A, NR_102733.1:n.1267G>A, NM_001278054.2:c.712G>A, NM_001278054.1:c.712G>A, XM_011542273.4:c.*752G>A, XM_005246014.3:c.913G>A, XM_005246014.2:c.913G>A, XM_005246014.1:c.913G>A, XM_047432034.1:c.715G>A, NP_001220.2:p.Ala388Thr, NP_127463.2:p.Ala305Thr, NP_001264983.1:p.Ala238Thr, XP_005246071.1:p.Ala305Thr, XP_047287990.1:p.Ala239Thr

Select item 146257972820.

rs1462579728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:15493963 (GRCh38)
1:15820458 (GRCh37)
Canonical SPDI:: NC_000001.11:15493962:A:C
Gene:: CASP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.002729/5 (Korea1K)
HGVS:: NC_000001.11:g.15493963A>C, NC_000001.10:g.15820458A>C, NG_029188.1:g.35828T>G, NM_001229.5:c.1087T>G, NM_001229.4:c.1087T>G, NM_032996.3:c.838T>G, NR_102732.2:n.1160T>G, NR_102732.1:n.1390T>G, NR_102733.2:n.962T>G, NR_102733.1:n.1192T>G, NM_001278054.2:c.637T>G, NM_001278054.1:c.637T>G, XM_011542273.4:c.1087T>G, XM_011542273.3:c.1087T>G, XM_011542273.2:c.1087T>G, XM_011542273.1:c.1087T>G, XM_005246014.3:c.838T>G, XM_005246014.2:c.838T>G, XM_005246014.1:c.838T>G, XM_047432034.1:c.640T>G, XR_007064158.1:n.864T>G, NP_001220.2:p.Tyr363Asp, NP_127463.2:p.Tyr280Asp, NP_001264983.1:p.Tyr213Asp, XP_011540575.1:p.Tyr363Asp, XP_005246071.1:p.Tyr280Asp, XP_047287990.1:p.Tyr214Asp

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