SNP Links for Protein (Select 1034615245) - SNP

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Links from Protein

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Select item 14908669061.

rs1490866906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:143624177 (GRCh38)
2:144381746 (GRCh37)
Canonical SPDI:: NC_000002.12:143624176:G:A,NC_000002.12:143624176:G:T
Gene:: ARHGAP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.143624177G>A, NC_000002.12:g.143624177G>T, NC_000002.11:g.144381746G>A, NC_000002.11:g.144381746G>T, NM_018460.4:c.1048G>A, NM_018460.4:c.1048G>T, NM_018460.3:c.1048G>A, NM_018460.3:c.1048G>T, XM_017004500.3:c.919G>A, XM_017004500.3:c.919G>T, XM_017004500.2:c.919G>A, XM_017004500.2:c.919G>T, XM_017004500.1:c.919G>A, XM_017004500.1:c.919G>T, XM_011511482.3:c.1048G>A, XM_011511482.3:c.1048G>T, XM_011511482.2:c.1048G>A, XM_011511482.2:c.1048G>T, XM_011511482.1:c.1048G>A, XM_011511482.1:c.1048G>T, XM_024453000.2:c.346G>A, XM_024453000.2:c.346G>T, XM_024453000.1:c.346G>A, XM_024453000.1:c.346G>T, XM_047445111.1:c.667G>A, XM_047445111.1:c.667G>T, XR_007078554.1:n.1061G>A, XR_007078554.1:n.1061G>T, XM_047445109.1:c.1048G>A, XM_047445109.1:c.1048G>T, XM_011511483.1:c.814G>A, XM_011511483.1:c.814G>T, XM_047445110.1:c.682G>A, XM_047445110.1:c.682G>T, NP_060930.3:p.Val350Ile, NP_060930.3:p.Val350Phe, XP_016859989.1:p.Val307Ile, XP_016859989.1:p.Val307Phe, XP_011509784.1:p.Val350Ile, XP_011509784.1:p.Val350Phe, XP_024308768.1:p.Val116Ile, XP_024308768.1:p.Val116Phe, XP_047301067.1:p.Val223Ile, XP_047301067.1:p.Val223Phe, XP_047301065.1:p.Val350Ile, XP_047301065.1:p.Val350Phe, XP_011509785.1:p.Val272Ile, XP_011509785.1:p.Val272Phe, XP_047301066.1:p.Val228Ile, XP_047301066.1:p.Val228Phe

Select item 14891247352.

rs1489124735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:143436994 (GRCh38)
2:144194563 (GRCh37)
Canonical SPDI:: NC_000002.12:143436993:T:G
Gene:: ARHGAP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.143436994T>G, NC_000002.11:g.144194563T>G, NM_018460.4:c.655T>G, NM_018460.3:c.655T>G, XM_017004500.3:c.526T>G, XM_017004500.2:c.526T>G, XM_017004500.1:c.526T>G, XM_011511482.3:c.655T>G, XM_011511482.2:c.655T>G, XM_011511482.1:c.655T>G, XM_011511484.2:c.655T>G, XM_011511484.1:c.655T>G, XM_024453000.2:c.-48T>G, XM_024453000.1:c.-48T>G, XM_047445111.1:c.274T>G, XM_047445112.1:c.655T>G, XM_047445114.1:c.526T>G, XR_007078554.1:n.668T>G, XM_047445109.1:c.655T>G, XM_011511483.1:c.421T>G, XM_047445110.1:c.289T>G, XM_047445113.1:c.655T>G, NP_060930.3:p.Tyr219Asp, XP_016859989.1:p.Tyr176Asp, XP_011509784.1:p.Tyr219Asp, XP_011509786.1:p.Tyr219Asp, XP_047301067.1:p.Tyr92Asp, XP_047301068.1:p.Tyr219Asp, XP_047301070.1:p.Tyr176Asp, XP_047301065.1:p.Tyr219Asp, XP_011509785.1:p.Tyr141Asp, XP_047301066.1:p.Tyr97Asp, XP_047301069.1:p.Tyr219Asp

Select item 14881166333.

rs1488116633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:143624170 (GRCh38)
2:144381739 (GRCh37)
Canonical SPDI:: NC_000002.12:143624169:C:T
Gene:: ARHGAP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.143624170C>T, NC_000002.11:g.144381739C>T, NM_018460.4:c.1041C>T, NM_018460.3:c.1041C>T, XM_017004500.3:c.912C>T, XM_017004500.2:c.912C>T, XM_017004500.1:c.912C>T, XM_011511482.3:c.1041C>T, XM_011511482.2:c.1041C>T, XM_011511482.1:c.1041C>T, XM_024453000.2:c.339C>T, XM_024453000.1:c.339C>T, XM_047445111.1:c.660C>T, XR_007078554.1:n.1054C>T, XM_047445109.1:c.1041C>T, XM_011511483.1:c.807C>T, XM_047445110.1:c.675C>T

Select item 14814414854.

rs1481441485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:143624251 (GRCh38)
2:144381820 (GRCh37)
Canonical SPDI:: NC_000002.12:143624250:G:C
Gene:: ARHGAP15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_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_000002.12:g.143624251G>C, NC_000002.11:g.144381820G>C, NM_018460.4:c.1122G>C, NM_018460.3:c.1122G>C, XM_017004500.3:c.993G>C, XM_017004500.2:c.993G>C, XM_017004500.1:c.993G>C, XM_011511482.3:c.1122G>C, XM_011511482.2:c.1122G>C, XM_011511482.1:c.1122G>C, XM_024453000.2:c.420G>C, XM_024453000.1:c.420G>C, XM_047445111.1:c.741G>C, XR_007078554.1:n.1135G>C, XM_047445109.1:c.1122G>C, XM_011511483.1:c.888G>C, XM_047445110.1:c.756G>C, NP_060930.3:p.Gln374His, XP_016859989.1:p.Gln331His, XP_011509784.1:p.Gln374His, XP_024308768.1:p.Gln140His, XP_047301067.1:p.Gln247His, XP_047301065.1:p.Gln374His, XP_011509785.1:p.Gln296His, XP_047301066.1:p.Gln252His

Select item 14795208625.

rs1479520862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:143487410 (GRCh38)
2:144244979 (GRCh37)
Canonical SPDI:: NC_000002.12:143487409:C:A
Gene:: ARHGAP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.143487410C>A, NC_000002.11:g.144244979C>A, NM_018460.4:c.741C>A, NM_018460.3:c.741C>A, XM_017004500.3:c.612C>A, XM_017004500.2:c.612C>A, XM_017004500.1:c.612C>A, XM_011511482.3:c.741C>A, XM_011511482.2:c.741C>A, XM_011511482.1:c.741C>A, XM_011511484.2:c.741C>A, XM_011511484.1:c.741C>A, XM_024453000.2:c.39C>A, XM_024453000.1:c.39C>A, XM_047445111.1:c.360C>A, XM_047445112.1:c.741C>A, XM_047445114.1:c.612C>A, XR_007078554.1:n.754C>A, XM_047445109.1:c.741C>A, XM_011511483.1:c.507C>A, XM_047445110.1:c.375C>A, XM_047445113.1:c.741C>A, NP_060930.3:p.Asp247Glu, XP_016859989.1:p.Asp204Glu, XP_011509784.1:p.Asp247Glu, XP_011509786.1:p.Asp247Glu, XP_024308768.1:p.Asp13Glu, XP_047301067.1:p.Asp120Glu, XP_047301068.1:p.Asp247Glu, XP_047301070.1:p.Asp204Glu, XP_047301065.1:p.Asp247Glu, XP_011509785.1:p.Asp169Glu, XP_047301066.1:p.Asp125Glu, XP_047301069.1:p.Asp247Glu

Select item 14777198286.

rs1477719828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:143519306 (GRCh38)
2:144276875 (GRCh37)
Canonical SPDI:: NC_000002.12:143519305:T:G
Gene:: ARHGAP15 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.143519306T>G, NC_000002.11:g.144276875T>G, NM_018460.4:c.867T>G, NM_018460.3:c.867T>G, XM_017004500.3:c.738T>G, XM_017004500.2:c.738T>G, XM_017004500.1:c.738T>G, XM_011511482.3:c.867T>G, XM_011511482.2:c.867T>G, XM_011511482.1:c.867T>G, XM_011511484.2:c.867T>G, XM_011511484.1:c.867T>G, XM_024453000.2:c.165T>G, XM_024453000.1:c.165T>G, XM_047445111.1:c.486T>G, XM_047445112.1:c.867T>G, XM_047445114.1:c.738T>G, XR_007078554.1:n.880T>G, XM_047445109.1:c.867T>G, XM_011511483.1:c.633T>G, XM_047445110.1:c.501T>G, XM_047445113.1:c.867T>G

Select item 14767925427.

rs1476792542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:143202144 (GRCh38)
2:143959713 (GRCh37)
Canonical SPDI:: NC_000002.12:143202143:A:C,NC_000002.12:143202143:A:G
Gene:: ARHGAP15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.143202144A>C, NC_000002.12:g.143202144A>G, NC_000002.11:g.143959713A>C, NC_000002.11:g.143959713A>G, NM_018460.4:c.176A>C, NM_018460.4:c.176A>G, NM_018460.3:c.176A>C, NM_018460.3:c.176A>G, XM_017004500.3:c.47A>C, XM_017004500.3:c.47A>G, XM_017004500.2:c.47A>C, XM_017004500.2:c.47A>G, XM_017004500.1:c.47A>C, XM_017004500.1:c.47A>G, XM_011511482.3:c.176A>C, XM_011511482.3:c.176A>G, XM_011511482.2:c.176A>C, XM_011511482.2:c.176A>G, XM_011511482.1:c.176A>C, XM_011511482.1:c.176A>G, XM_011511484.2:c.176A>C, XM_011511484.2:c.176A>G, XM_011511484.1:c.176A>C, XM_011511484.1:c.176A>G, XM_047445112.1:c.176A>C, XM_047445112.1:c.176A>G, XM_047445114.1:c.47A>C, XM_047445114.1:c.47A>G, XR_007078554.1:n.189A>C, XR_007078554.1:n.189A>G, XM_047445109.1:c.176A>C, XM_047445109.1:c.176A>G, XM_047445113.1:c.176A>C, XM_047445113.1:c.176A>G, NP_060930.3:p.His59Pro, NP_060930.3:p.His59Arg, XP_016859989.1:p.His16Pro, XP_016859989.1:p.His16Arg, XP_011509784.1:p.His59Pro, XP_011509784.1:p.His59Arg, XP_011509786.1:p.His59Pro, XP_011509786.1:p.His59Arg, XP_047301068.1:p.His59Pro, XP_047301068.1:p.His59Arg, XP_047301070.1:p.His16Pro, XP_047301070.1:p.His16Arg, XP_047301065.1:p.His59Pro, XP_047301065.1:p.His59Arg, XP_047301069.1:p.His59Pro, XP_047301069.1:p.His59Arg

Select item 14753917168.

rs1475391716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:143768054 (GRCh38)
2:144525623 (GRCh37)
Canonical SPDI:: NC_000002.12:143768053:C:T
Gene:: ARHGAP15 (Varview), ARHGAP15-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.143768054C>T, NC_000002.11:g.144525623C>T, NM_018460.4:c.1310C>T, NM_018460.3:c.1310C>T, XM_017004500.3:c.1181C>T, XM_017004500.2:c.1181C>T, XM_017004500.1:c.1181C>T, XM_024453000.2:c.608C>T, XM_024453000.1:c.608C>T, XM_047445111.1:c.929C>T, XR_007078554.1:n.1447C>T, XM_011511483.1:c.1076C>T, XM_047445110.1:c.944C>T, NP_060930.3:p.Thr437Ile, XP_016859989.1:p.Thr394Ile, XP_024308768.1:p.Thr203Ile, XP_047301067.1:p.Thr310Ile, XP_011509785.1:p.Thr359Ile, XP_047301066.1:p.Thr315Ile

Select item 14735246699.

rs1473524669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:143768116 (GRCh38)
2:144525685 (GRCh37)
Canonical SPDI:: NC_000002.12:143768115:A:G
Gene:: ARHGAP15 (Varview), ARHGAP15-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.143768116A>G, NC_000002.11:g.144525685A>G, NM_018460.4:c.1372A>G, NM_018460.3:c.1372A>G, XM_017004500.3:c.1243A>G, XM_017004500.2:c.1243A>G, XM_017004500.1:c.1243A>G, XM_024453000.2:c.670A>G, XM_024453000.1:c.670A>G, XM_047445111.1:c.991A>G, XR_007078554.1:n.1509A>G, XM_011511483.1:c.1138A>G, XM_047445110.1:c.1006A>G, NP_060930.3:p.Ile458Val, XP_016859989.1:p.Ile415Val, XP_024308768.1:p.Ile224Val, XP_047301067.1:p.Ile331Val, XP_011509785.1:p.Ile380Val, XP_047301066.1:p.Ile336Val

Select item 146922224610.

rs1469222246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:143202143 (GRCh38)
2:143959712 (GRCh37)
Canonical SPDI:: NC_000002.12:143202142:C:T
Gene:: ARHGAP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.143202143C>T, NC_000002.11:g.143959712C>T, NM_018460.4:c.175C>T, NM_018460.3:c.175C>T, XM_017004500.3:c.46C>T, XM_017004500.2:c.46C>T, XM_017004500.1:c.46C>T, XM_011511482.3:c.175C>T, XM_011511482.2:c.175C>T, XM_011511482.1:c.175C>T, XM_011511484.2:c.175C>T, XM_011511484.1:c.175C>T, XM_047445112.1:c.175C>T, XM_047445114.1:c.46C>T, XR_007078554.1:n.188C>T, XM_047445109.1:c.175C>T, XM_047445113.1:c.175C>T, NP_060930.3:p.His59Tyr, XP_016859989.1:p.His16Tyr, XP_011509784.1:p.His59Tyr, XP_011509786.1:p.His59Tyr, XP_047301068.1:p.His59Tyr, XP_047301070.1:p.His16Tyr, XP_047301065.1:p.His59Tyr, XP_047301069.1:p.His59Tyr

Select item 146750191911.

rs1467501919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:143556422 (GRCh38)
2:144313991 (GRCh37)
Canonical SPDI:: NC_000002.12:143556421:G:A
Gene:: ARHGAP15 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.143556422G>A, NC_000002.11:g.144313991G>A, NM_018460.4:c.940G>A, NM_018460.3:c.940G>A, XM_017004500.3:c.811G>A, XM_017004500.2:c.811G>A, XM_017004500.1:c.811G>A, XM_011511482.3:c.940G>A, XM_011511482.2:c.940G>A, XM_011511482.1:c.940G>A, XM_011511484.2:c.940G>A, XM_011511484.1:c.940G>A, XM_024453000.2:c.238G>A, XM_024453000.1:c.238G>A, XM_047445111.1:c.559G>A, XR_007078554.1:n.953G>A, XM_047445109.1:c.940G>A, XM_011511483.1:c.706G>A, XM_047445110.1:c.574G>A, XM_047445113.1:c.940G>A, NP_060930.3:p.Gly314Arg, XP_016859989.1:p.Gly271Arg, XP_011509784.1:p.Gly314Arg, XP_011509786.1:p.Gly314Arg, XP_024308768.1:p.Gly80Arg, XP_047301067.1:p.Gly187Arg, XP_047301065.1:p.Gly314Arg, XP_011509785.1:p.Gly236Arg, XP_047301066.1:p.Gly192Arg, XP_047301069.1:p.Gly314Arg

Select item 146655305012.

rs1466553050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:143703472 (GRCh38)
2:144461041 (GRCh37)
Canonical SPDI:: NC_000002.12:143703471:C:G
Gene:: ARHGAP15 (Varview), ARHGAP15-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.143703472C>G, NC_000002.11:g.144461041C>G, NM_018460.4:c.1192C>G, NM_018460.3:c.1192C>G, XM_017004500.3:c.1063C>G, XM_017004500.2:c.1063C>G, XM_017004500.1:c.1063C>G, XM_011511482.3:c.1192C>G, XM_011511482.2:c.1192C>G, XM_011511482.1:c.1192C>G, XM_024453000.2:c.490C>G, XM_024453000.1:c.490C>G, XM_047445111.1:c.811C>G, XR_007078554.1:n.1205C>G, XM_047445109.1:c.1192C>G, XM_011511483.1:c.958C>G, XM_047445110.1:c.826C>G, NP_060930.3:p.Leu398Val, XP_016859989.1:p.Leu355Val, XP_011509784.1:p.Leu398Val, XP_024308768.1:p.Leu164Val, XP_047301067.1:p.Leu271Val, XP_047301065.1:p.Leu398Val, XP_011509785.1:p.Leu320Val, XP_047301066.1:p.Leu276Val

Select item 146597228213.

rs1465972282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:143624232 (GRCh38)
2:144381801 (GRCh37)
Canonical SPDI:: NC_000002.12:143624231:C:T
Gene:: ARHGAP15 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_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_000002.12:g.143624232C>T, NC_000002.11:g.144381801C>T, NM_018460.4:c.1103C>T, NM_018460.3:c.1103C>T, XM_017004500.3:c.974C>T, XM_017004500.2:c.974C>T, XM_017004500.1:c.974C>T, XM_011511482.3:c.1103C>T, XM_011511482.2:c.1103C>T, XM_011511482.1:c.1103C>T, XM_024453000.2:c.401C>T, XM_024453000.1:c.401C>T, XM_047445111.1:c.722C>T, XR_007078554.1:n.1116C>T, XM_047445109.1:c.1103C>T, XM_011511483.1:c.869C>T, XM_047445110.1:c.737C>T, NP_060930.3:p.Pro368Leu, XP_016859989.1:p.Pro325Leu, XP_011509784.1:p.Pro368Leu, XP_024308768.1:p.Pro134Leu, XP_047301067.1:p.Pro241Leu, XP_047301065.1:p.Pro368Leu, XP_011509785.1:p.Pro290Leu, XP_047301066.1:p.Pro246Leu

Select item 146528761014.

rs1465287610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:143487468 (GRCh38)
2:144245037 (GRCh37)
Canonical SPDI:: NC_000002.12:143487467:A:G
Gene:: ARHGAP15 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.143487468A>G, NC_000002.11:g.144245037A>G, NM_018460.4:c.799A>G, NM_018460.3:c.799A>G, XM_017004500.3:c.670A>G, XM_017004500.2:c.670A>G, XM_017004500.1:c.670A>G, XM_011511482.3:c.799A>G, XM_011511482.2:c.799A>G, XM_011511482.1:c.799A>G, XM_011511484.2:c.799A>G, XM_011511484.1:c.799A>G, XM_024453000.2:c.97A>G, XM_024453000.1:c.97A>G, XM_047445111.1:c.418A>G, XM_047445112.1:c.799A>G, XM_047445114.1:c.670A>G, XR_007078554.1:n.812A>G, XM_047445109.1:c.799A>G, XM_011511483.1:c.565A>G, XM_047445110.1:c.433A>G, XM_047445113.1:c.799A>G, NP_060930.3:p.Thr267Ala, XP_016859989.1:p.Thr224Ala, XP_011509784.1:p.Thr267Ala, XP_011509786.1:p.Thr267Ala, XP_024308768.1:p.Thr33Ala, XP_047301067.1:p.Thr140Ala, XP_047301068.1:p.Thr267Ala, XP_047301070.1:p.Thr224Ala, XP_047301065.1:p.Thr267Ala, XP_011509785.1:p.Thr189Ala, XP_047301066.1:p.Thr145Ala, XP_047301069.1:p.Thr267Ala

Select item 145988417615.

rs1459884176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:143250576 (GRCh38)
2:144008145 (GRCh37)
Canonical SPDI:: NC_000002.12:143250575:A:G
Gene:: ARHGAP15 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.143250576A>G, NC_000002.11:g.144008145A>G, NM_018460.4:c.450A>G, NM_018460.3:c.450A>G, XM_017004500.3:c.321A>G, XM_017004500.2:c.321A>G, XM_017004500.1:c.321A>G, XM_011511482.3:c.450A>G, XM_011511482.2:c.450A>G, XM_011511482.1:c.450A>G, XM_011511484.2:c.450A>G, XM_011511484.1:c.450A>G, XM_047445111.1:c.69A>G, XM_047445112.1:c.450A>G, XM_047445114.1:c.321A>G, XR_007078554.1:n.463A>G, XM_047445109.1:c.450A>G, XM_011511483.1:c.216A>G, XM_047445113.1:c.450A>G

Select item 145584813216.

rs1455848132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:143228608 (GRCh38)
2:143986177 (GRCh37)
Canonical SPDI:: NC_000002.12:143228607:T:C
Gene:: ARHGAP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.143228608T>C, NC_000002.11:g.143986177T>C, NM_018460.4:c.324T>C, NM_018460.3:c.324T>C, XM_017004500.3:c.195T>C, XM_017004500.2:c.195T>C, XM_017004500.1:c.195T>C, XM_011511482.3:c.324T>C, XM_011511482.2:c.324T>C, XM_011511482.1:c.324T>C, XM_011511484.2:c.324T>C, XM_011511484.1:c.324T>C, XM_047445111.1:c.-58T>C, XM_047445112.1:c.324T>C, XM_047445114.1:c.195T>C, XR_007078554.1:n.337T>C, XM_047445109.1:c.324T>C, XM_047445113.1:c.324T>C

Select item 145555015017.

rs1455550150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:143436961 (GRCh38)
2:144194530 (GRCh37)
Canonical SPDI:: NC_000002.12:143436960:C:T
Gene:: ARHGAP15 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.143436961C>T, NC_000002.11:g.144194530C>T, NM_018460.4:c.622C>T, NM_018460.3:c.622C>T, XM_017004500.3:c.493C>T, XM_017004500.2:c.493C>T, XM_017004500.1:c.493C>T, XM_011511482.3:c.622C>T, XM_011511482.2:c.622C>T, XM_011511482.1:c.622C>T, XM_011511484.2:c.622C>T, XM_011511484.1:c.622C>T, XM_024453000.2:c.-81C>T, XM_024453000.1:c.-81C>T, XM_047445111.1:c.241C>T, XM_047445112.1:c.622C>T, XM_047445114.1:c.493C>T, XR_007078554.1:n.635C>T, XM_047445109.1:c.622C>T, XM_011511483.1:c.388C>T, XM_047445110.1:c.256C>T, XM_047445113.1:c.622C>T, NP_060930.3:p.Gln208Ter, XP_016859989.1:p.Gln165Ter, XP_011509784.1:p.Gln208Ter, XP_011509786.1:p.Gln208Ter, XP_047301067.1:p.Gln81Ter, XP_047301068.1:p.Gln208Ter, XP_047301070.1:p.Gln165Ter, XP_047301065.1:p.Gln208Ter, XP_011509785.1:p.Gln130Ter, XP_047301066.1:p.Gln86Ter, XP_047301069.1:p.Gln208Ter

Select item 145510579518.

rs1455105795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:143250570 (GRCh38)
2:144008139 (GRCh37)
Canonical SPDI:: NC_000002.12:143250569:G:T
Gene:: ARHGAP15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.143250570G>T, NC_000002.11:g.144008139G>T, NM_018460.4:c.444G>T, NM_018460.3:c.444G>T, XM_017004500.3:c.315G>T, XM_017004500.2:c.315G>T, XM_017004500.1:c.315G>T, XM_011511482.3:c.444G>T, XM_011511482.2:c.444G>T, XM_011511482.1:c.444G>T, XM_011511484.2:c.444G>T, XM_011511484.1:c.444G>T, XM_047445111.1:c.63G>T, XM_047445112.1:c.444G>T, XM_047445114.1:c.315G>T, XR_007078554.1:n.457G>T, XM_047445109.1:c.444G>T, XM_011511483.1:c.210G>T, XM_047445113.1:c.444G>T, NP_060930.3:p.Lys148Asn, XP_016859989.1:p.Lys105Asn, XP_011509784.1:p.Lys148Asn, XP_011509786.1:p.Lys148Asn, XP_047301067.1:p.Lys21Asn, XP_047301068.1:p.Lys148Asn, XP_047301070.1:p.Lys105Asn, XP_047301065.1:p.Lys148Asn, XP_011509785.1:p.Lys70Asn, XP_047301069.1:p.Lys148Asn

Select item 145356718519.

rs1453567185 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:143768034 (GRCh38)
2:144525603 (GRCh37)
Canonical SPDI:: NC_000002.12:143768033:GGGG:GGG
Gene:: ARHGAP15 (Varview), ARHGAP15-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.143768037del, NC_000002.11:g.144525606del, NM_018460.4:c.1293del, NM_018460.3:c.1293del, XM_017004500.3:c.1164del, XM_017004500.2:c.1164del, XM_017004500.1:c.1164del, XM_024453000.2:c.591del, XM_024453000.1:c.591del, XM_047445111.1:c.912del, XR_007078554.1:n.1430del, XM_011511483.1:c.1059del, XM_047445110.1:c.927del, NP_060930.3:p.Ile432fs, XP_016859989.1:p.Ile389fs, XP_024308768.1:p.Ile198fs, XP_047301067.1:p.Ile305fs, XP_011509785.1:p.Ile354fs, XP_047301066.1:p.Ile310fs

Select item 145016711020.

rs1450167110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:143129440 (GRCh38)
2:143887009 (GRCh37)
Canonical SPDI:: NC_000002.12:143129439:T:G
Gene:: ARHGAP15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00055/1 (Korea1K)
G=0.00068/2 (KOREAN)
HGVS:: NC_000002.12:g.143129440T>G, NC_000002.11:g.143887009T>G, NM_018460.4:c.-41T>G, NM_018460.3:c.-41T>G, XM_017004500.3:c.10T>G, XM_017004500.2:c.10T>G, XM_017004500.1:c.10T>G, XM_047445114.1:c.10T>G, XP_016859989.1:p.Ser4Ala, XP_047301070.1:p.Ser4Ala

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