SNP Links for Protein (Select 767961632) - SNP

Links from Protein

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Select item 14882053081.

rs1488205308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:99799250 (GRCh38)
10:101559007 (GRCh37)
Canonical SPDI:: NC_000010.11:99799249:A:T
Gene:: ABCC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.99799250A>T, NC_000010.10:g.101559007A>T, NG_011798.2:g.21653A>T, NM_000392.5:c.911A>T, NM_000392.4:c.911A>T, NM_000392.3:c.911A>T, XM_006717631.5:c.911A>T, XM_006717631.4:c.911A>T, XM_006717631.3:c.911A>T, XM_006717631.2:c.911A>T, XM_006717631.1:c.911A>T, XM_006717630.4:c.215A>T, XM_006717630.3:c.215A>T, XM_006717630.2:c.215A>T, XM_006717630.1:c.215A>T, XR_945604.4:n.1116A>T, XR_945604.3:n.1154A>T, XR_945604.2:n.1133A>T, XR_945604.1:n.1100A>T, XM_011539291.4:c.911A>T, XM_011539291.3:c.911A>T, XM_011539291.2:c.911A>T, XM_011539291.1:c.911A>T, XM_017015675.3:c.911A>T, XM_017015675.2:c.911A>T, XM_017015675.1:c.911A>T, XM_047424598.1:c.911A>T, NP_000383.2:p.Asp304Val, XP_006717694.1:p.Asp304Val, XP_006717693.1:p.Asp72Val, XP_011537593.1:p.Asp304Val, XP_016871164.1:p.Asp304Val, XP_047280554.1:p.Asp304Val

Select item 14859775572.

rs1485977557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99793676 (GRCh38)
10:101553433 (GRCh37)
Canonical SPDI:: NC_000010.11:99793675:A:G
Gene:: ABCC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.99793676A>G, NC_000010.10:g.101553433A>G, NG_011798.2:g.16079A>G, NM_000392.5:c.459A>G, NM_000392.4:c.459A>G, NM_000392.3:c.459A>G, XM_006717631.5:c.459A>G, XM_006717631.4:c.459A>G, XM_006717631.3:c.459A>G, XM_006717631.2:c.459A>G, XM_006717631.1:c.459A>G, XR_945604.4:n.664A>G, XR_945604.3:n.702A>G, XR_945604.2:n.681A>G, XR_945604.1:n.648A>G, XM_011539291.4:c.459A>G, XM_011539291.3:c.459A>G, XM_011539291.2:c.459A>G, XM_011539291.1:c.459A>G, XM_017015675.3:c.459A>G, XM_017015675.2:c.459A>G, XM_017015675.1:c.459A>G, XM_047424598.1:c.459A>G

Select item 14853869413.

rs1485386941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:99793608 (GRCh38)
10:101553365 (GRCh37)
Canonical SPDI:: NC_000010.11:99793607:T:C
Gene:: ABCC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_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.99793608T>C, NC_000010.10:g.101553365T>C, NG_011798.2:g.16011T>C, NM_000392.5:c.391T>C, NM_000392.4:c.391T>C, NM_000392.3:c.391T>C, XM_006717631.5:c.391T>C, XM_006717631.4:c.391T>C, XM_006717631.3:c.391T>C, XM_006717631.2:c.391T>C, XM_006717631.1:c.391T>C, XR_945604.4:n.596T>C, XR_945604.3:n.634T>C, XR_945604.2:n.613T>C, XR_945604.1:n.580T>C, XM_011539291.4:c.391T>C, XM_011539291.3:c.391T>C, XM_011539291.2:c.391T>C, XM_011539291.1:c.391T>C, XM_017015675.3:c.391T>C, XM_017015675.2:c.391T>C, XM_017015675.1:c.391T>C, XM_047424598.1:c.391T>C, NP_000383.2:p.Phe131Leu, XP_006717694.1:p.Phe131Leu, XP_011537593.1:p.Phe131Leu, XP_016871164.1:p.Phe131Leu, XP_047280554.1:p.Phe131Leu

Select item 14852543344.

rs1485254334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:99819162 (GRCh38)
10:101578919 (GRCh37)
Canonical SPDI:: NC_000010.11:99819161:C:A,NC_000010.11:99819161:C:T
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99819162C>A, NC_000010.11:g.99819162C>T, NC_000010.10:g.101578919C>A, NC_000010.10:g.101578919C>T, NG_011798.2:g.41565C>A, NG_011798.2:g.41565C>T, NM_000392.5:c.2513C>A, NM_000392.5:c.2513C>T, NM_000392.4:c.2513C>A, NM_000392.4:c.2513C>T, NM_000392.3:c.2513C>A, NM_000392.3:c.2513C>T, XM_006717631.5:c.2513C>A, XM_006717631.5:c.2513C>T, XM_006717631.4:c.2513C>A, XM_006717631.4:c.2513C>T, XM_006717631.3:c.2513C>A, XM_006717631.3:c.2513C>T, XM_006717631.2:c.2513C>A, XM_006717631.2:c.2513C>T, XM_006717631.1:c.2513C>A, XM_006717631.1:c.2513C>T, XM_006717630.4:c.1817C>A, XM_006717630.4:c.1817C>T, XM_006717630.3:c.1817C>A, XM_006717630.3:c.1817C>T, XM_006717630.2:c.1817C>A, XM_006717630.2:c.1817C>T, XM_006717630.1:c.1817C>A, XM_006717630.1:c.1817C>T, XR_945604.4:n.2718C>A, XR_945604.4:n.2718C>T, XR_945604.3:n.2756C>A, XR_945604.3:n.2756C>T, XR_945604.2:n.2735C>A, XR_945604.2:n.2735C>T, XR_945604.1:n.2702C>A, XR_945604.1:n.2702C>T, XM_011539291.4:c.2513C>A, XM_011539291.4:c.2513C>T, XM_011539291.3:c.2513C>A, XM_011539291.3:c.2513C>T, XM_011539291.2:c.2513C>A, XM_011539291.2:c.2513C>T, XM_011539291.1:c.2513C>A, XM_011539291.1:c.2513C>T, XM_017015675.3:c.2513C>A, XM_017015675.3:c.2513C>T, XM_017015675.2:c.2513C>A, XM_017015675.2:c.2513C>T, XM_017015675.1:c.2513C>A, XM_017015675.1:c.2513C>T, XM_047424598.1:c.2513C>A, XM_047424598.1:c.2513C>T, NP_000383.2:p.Thr838Lys, NP_000383.2:p.Thr838Ile, XP_006717694.1:p.Thr838Lys, XP_006717694.1:p.Thr838Ile, XP_006717693.1:p.Thr606Lys, XP_006717693.1:p.Thr606Ile, XP_011537593.1:p.Thr838Lys, XP_011537593.1:p.Thr838Ile, XP_016871164.1:p.Thr838Lys, XP_016871164.1:p.Thr838Ile, XP_047280554.1:p.Thr838Lys, XP_047280554.1:p.Thr838Ile

Select item 14845384775.

rs1484538477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:99792277 (GRCh38)
10:101552034 (GRCh37)
Canonical SPDI:: NC_000010.11:99792276:C:G
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99792277C>G, NC_000010.10:g.101552034C>G, NG_011798.2:g.14680C>G, NM_000392.5:c.251C>G, NM_000392.4:c.251C>G, NM_000392.3:c.251C>G, XM_006717631.5:c.251C>G, XM_006717631.4:c.251C>G, XM_006717631.3:c.251C>G, XM_006717631.2:c.251C>G, XM_006717631.1:c.251C>G, XR_945604.4:n.456C>G, XR_945604.3:n.494C>G, XR_945604.2:n.473C>G, XR_945604.1:n.440C>G, XM_011539291.4:c.251C>G, XM_011539291.3:c.251C>G, XM_011539291.2:c.251C>G, XM_011539291.1:c.251C>G, XM_017015675.3:c.251C>G, XM_017015675.2:c.251C>G, XM_017015675.1:c.251C>G, XM_047424598.1:c.251C>G, NP_000383.2:p.Ala84Gly, XP_006717694.1:p.Ala84Gly, XP_011537593.1:p.Ala84Gly, XP_016871164.1:p.Ala84Gly, XP_047280554.1:p.Ala84Gly

Select item 14838803546.

rs1483880354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99793598 (GRCh38)
10:101553355 (GRCh37)
Canonical SPDI:: NC_000010.11:99793597:A:G
Gene:: ABCC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99793598A>G, NC_000010.10:g.101553355A>G, NG_011798.2:g.16001A>G, NM_000392.5:c.381A>G, NM_000392.4:c.381A>G, NM_000392.3:c.381A>G, XM_006717631.5:c.381A>G, XM_006717631.4:c.381A>G, XM_006717631.3:c.381A>G, XM_006717631.2:c.381A>G, XM_006717631.1:c.381A>G, XR_945604.4:n.586A>G, XR_945604.3:n.624A>G, XR_945604.2:n.603A>G, XR_945604.1:n.570A>G, XM_011539291.4:c.381A>G, XM_011539291.3:c.381A>G, XM_011539291.2:c.381A>G, XM_011539291.1:c.381A>G, XM_017015675.3:c.381A>G, XM_017015675.2:c.381A>G, XM_017015675.1:c.381A>G, XM_047424598.1:c.381A>G

Select item 14833802767.

rs1483380276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:99804111 (GRCh38)
10:101563868 (GRCh37)
Canonical SPDI:: NC_000010.11:99804110:G:A
Gene:: ABCC2 (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.99804111G>A, NC_000010.10:g.101563868G>A, NG_011798.2:g.26514G>A, NM_000392.5:c.1302G>A, NM_000392.4:c.1302G>A, NM_000392.3:c.1302G>A, XM_006717631.5:c.1302G>A, XM_006717631.4:c.1302G>A, XM_006717631.3:c.1302G>A, XM_006717631.2:c.1302G>A, XM_006717631.1:c.1302G>A, XM_006717630.4:c.606G>A, XM_006717630.3:c.606G>A, XM_006717630.2:c.606G>A, XM_006717630.1:c.606G>A, XR_945604.4:n.1507G>A, XR_945604.3:n.1545G>A, XR_945604.2:n.1524G>A, XR_945604.1:n.1491G>A, XM_011539291.4:c.1302G>A, XM_011539291.3:c.1302G>A, XM_011539291.2:c.1302G>A, XM_011539291.1:c.1302G>A, XM_017015675.3:c.1302G>A, XM_017015675.2:c.1302G>A, XM_017015675.1:c.1302G>A, XM_047424598.1:c.1302G>A

Select item 14828203458.

rs1482820345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:99819206 (GRCh38)
10:101578963 (GRCh37)
Canonical SPDI:: NC_000010.11:99819205:G:A
Gene:: ABCC2 (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99819206G>A, NC_000010.10:g.101578963G>A, NG_011798.2:g.41609G>A, NM_000392.5:c.2557G>A, NM_000392.4:c.2557G>A, NM_000392.3:c.2557G>A, XM_006717631.5:c.2557G>A, XM_006717631.4:c.2557G>A, XM_006717631.3:c.2557G>A, XM_006717631.2:c.2557G>A, XM_006717631.1:c.2557G>A, XM_006717630.4:c.1861G>A, XM_006717630.3:c.1861G>A, XM_006717630.2:c.1861G>A, XM_006717630.1:c.1861G>A, XR_945604.4:n.2762G>A, XR_945604.3:n.2800G>A, XR_945604.2:n.2779G>A, XR_945604.1:n.2746G>A, XM_011539291.4:c.2557G>A, XM_011539291.3:c.2557G>A, XM_011539291.2:c.2557G>A, XM_011539291.1:c.2557G>A, XM_017015675.3:c.2557G>A, XM_017015675.2:c.2557G>A, XM_017015675.1:c.2557G>A, XM_047424598.1:c.2557G>A, NP_000383.2:p.Gly853Arg, XP_006717694.1:p.Gly853Arg, XP_006717693.1:p.Gly621Arg, XP_011537593.1:p.Gly853Arg, XP_016871164.1:p.Gly853Arg, XP_047280554.1:p.Gly853Arg

Select item 14825218239.

rs1482521823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:99817446 (GRCh38)
10:101577203 (GRCh37)
Canonical SPDI:: NC_000010.11:99817445:A:C
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99817446A>C, NC_000010.10:g.101577203A>C, NG_011798.2:g.39849A>C, NM_000392.5:c.2233A>C, NM_000392.4:c.2233A>C, NM_000392.3:c.2233A>C, XM_006717631.5:c.2233A>C, XM_006717631.4:c.2233A>C, XM_006717631.3:c.2233A>C, XM_006717631.2:c.2233A>C, XM_006717631.1:c.2233A>C, XM_006717630.4:c.1537A>C, XM_006717630.3:c.1537A>C, XM_006717630.2:c.1537A>C, XM_006717630.1:c.1537A>C, XR_945604.4:n.2438A>C, XR_945604.3:n.2476A>C, XR_945604.2:n.2455A>C, XR_945604.1:n.2422A>C, XM_011539291.4:c.2233A>C, XM_011539291.3:c.2233A>C, XM_011539291.2:c.2233A>C, XM_011539291.1:c.2233A>C, XM_017015675.3:c.2233A>C, XM_017015675.2:c.2233A>C, XM_017015675.1:c.2233A>C, XM_047424598.1:c.2233A>C, NP_000383.2:p.Met745Leu, XP_006717694.1:p.Met745Leu, XP_006717693.1:p.Met513Leu, XP_011537593.1:p.Met745Leu, XP_016871164.1:p.Met745Leu, XP_047280554.1:p.Met745Leu

Select item 148240159610.

rs1482401596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:99799236 (GRCh38)
10:101558993 (GRCh37)
Canonical SPDI:: NC_000010.11:99799235:T:C
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99799236T>C, NC_000010.10:g.101558993T>C, NG_011798.2:g.21639T>C, NM_000392.5:c.897T>C, NM_000392.4:c.897T>C, NM_000392.3:c.897T>C, XM_006717631.5:c.897T>C, XM_006717631.4:c.897T>C, XM_006717631.3:c.897T>C, XM_006717631.2:c.897T>C, XM_006717631.1:c.897T>C, XM_006717630.4:c.201T>C, XM_006717630.3:c.201T>C, XM_006717630.2:c.201T>C, XM_006717630.1:c.201T>C, XR_945604.4:n.1102T>C, XR_945604.3:n.1140T>C, XR_945604.2:n.1119T>C, XR_945604.1:n.1086T>C, XM_011539291.4:c.897T>C, XM_011539291.3:c.897T>C, XM_011539291.2:c.897T>C, XM_011539291.1:c.897T>C, XM_017015675.3:c.897T>C, XM_017015675.2:c.897T>C, XM_017015675.1:c.897T>C, XM_047424598.1:c.897T>C

Select item 148230314411.

rs1482303144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99813039 (GRCh38)
10:101572796 (GRCh37)
Canonical SPDI:: NC_000010.11:99813038:A:G
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.99813039A>G, NC_000010.10:g.101572796A>G, NG_011798.2:g.35442A>G, NM_000392.5:c.1989A>G, NM_000392.4:c.1989A>G, NM_000392.3:c.1989A>G, XM_006717631.5:c.1989A>G, XM_006717631.4:c.1989A>G, XM_006717631.3:c.1989A>G, XM_006717631.2:c.1989A>G, XM_006717631.1:c.1989A>G, XM_006717630.4:c.1293A>G, XM_006717630.3:c.1293A>G, XM_006717630.2:c.1293A>G, XM_006717630.1:c.1293A>G, XR_945604.4:n.2194A>G, XR_945604.3:n.2232A>G, XR_945604.2:n.2211A>G, XR_945604.1:n.2178A>G, XM_011539291.4:c.1989A>G, XM_011539291.3:c.1989A>G, XM_011539291.2:c.1989A>G, XM_011539291.1:c.1989A>G, XM_017015675.3:c.1989A>G, XM_017015675.2:c.1989A>G, XM_017015675.1:c.1989A>G, XM_047424598.1:c.1989A>G

Select item 148206008212.

rs1482060082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99830362 (GRCh38)
10:101590119 (GRCh37)
Canonical SPDI:: NC_000010.11:99830361:A:G
Gene:: ABCC2 (Varview)
Functional Consequence:: 3_prime_UTR_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)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.99830362A>G, NC_000010.10:g.101590119A>G, NG_011798.2:g.52765A>G, NM_000392.5:c.2676A>G, NM_000392.4:c.2676A>G, NM_000392.3:c.2676A>G, XM_006717631.5:c.*103A>G, XM_006717631.4:c.*103A>G, XM_006717631.3:c.*103A>G, XM_006717631.2:c.*103A>G, XM_006717631.1:c.*103A>G, XM_006717630.4:c.1980A>G, XM_006717630.3:c.1980A>G, XM_006717630.2:c.1980A>G, XM_006717630.1:c.1980A>G, XR_945604.4:n.2881A>G, XR_945604.3:n.2919A>G, XR_945604.2:n.2898A>G, XR_945604.1:n.2865A>G, XM_011539291.4:c.2676A>G, XM_011539291.3:c.2676A>G, XM_011539291.2:c.2676A>G, XM_011539291.1:c.2676A>G, XM_047424598.1:c.2676A>G

Select item 148147985313.

rs1481479853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:99807496 (GRCh38)
10:101567253 (GRCh37)
Canonical SPDI:: NC_000010.11:99807495:T:C
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99807496T>C, NC_000010.10:g.101567253T>C, NG_011798.2:g.29899T>C, NM_000392.5:c.1643T>C, NM_000392.4:c.1643T>C, NM_000392.3:c.1643T>C, XM_006717631.5:c.1643T>C, XM_006717631.4:c.1643T>C, XM_006717631.3:c.1643T>C, XM_006717631.2:c.1643T>C, XM_006717631.1:c.1643T>C, XM_006717630.4:c.947T>C, XM_006717630.3:c.947T>C, XM_006717630.2:c.947T>C, XM_006717630.1:c.947T>C, XR_945604.4:n.1848T>C, XR_945604.3:n.1886T>C, XR_945604.2:n.1865T>C, XR_945604.1:n.1832T>C, XM_011539291.4:c.1643T>C, XM_011539291.3:c.1643T>C, XM_011539291.2:c.1643T>C, XM_011539291.1:c.1643T>C, XM_017015675.3:c.1643T>C, XM_017015675.2:c.1643T>C, XM_017015675.1:c.1643T>C, XM_047424598.1:c.1643T>C, NP_000383.2:p.Phe548Ser, XP_006717694.1:p.Phe548Ser, XP_006717693.1:p.Phe316Ser, XP_011537593.1:p.Phe548Ser, XP_016871164.1:p.Phe548Ser, XP_047280554.1:p.Phe548Ser

Select item 148082916014.

rs1480829160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:99804206 (GRCh38)
10:101563963 (GRCh37)
Canonical SPDI:: NC_000010.11:99804205:G:A
Gene:: ABCC2 (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=0.000019/5 (TOPMED)
A=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99804206G>A, NC_000010.10:g.101563963G>A, NG_011798.2:g.26609G>A, NM_000392.5:c.1397G>A, NM_000392.4:c.1397G>A, NM_000392.3:c.1397G>A, XM_006717631.5:c.1397G>A, XM_006717631.4:c.1397G>A, XM_006717631.3:c.1397G>A, XM_006717631.2:c.1397G>A, XM_006717631.1:c.1397G>A, XM_006717630.4:c.701G>A, XM_006717630.3:c.701G>A, XM_006717630.2:c.701G>A, XM_006717630.1:c.701G>A, XR_945604.4:n.1602G>A, XR_945604.3:n.1640G>A, XR_945604.2:n.1619G>A, XR_945604.1:n.1586G>A, XM_011539291.4:c.1397G>A, XM_011539291.3:c.1397G>A, XM_011539291.2:c.1397G>A, XM_011539291.1:c.1397G>A, XM_017015675.3:c.1397G>A, XM_017015675.2:c.1397G>A, XM_017015675.1:c.1397G>A, XM_047424598.1:c.1397G>A, NP_000383.2:p.Gly466Asp, XP_006717694.1:p.Gly466Asp, XP_006717693.1:p.Gly234Asp, XP_011537593.1:p.Gly466Asp, XP_016871164.1:p.Gly466Asp, XP_047280554.1:p.Gly466Asp

Select item 147916011015.

rs1479160110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:99807489 (GRCh38)
10:101567246 (GRCh37)
Canonical SPDI:: NC_000010.11:99807488:G:A,NC_000010.11:99807488:G:T
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.99807489G>A, NC_000010.11:g.99807489G>T, NC_000010.10:g.101567246G>A, NC_000010.10:g.101567246G>T, NG_011798.2:g.29892G>A, NG_011798.2:g.29892G>T, NM_000392.5:c.1636G>A, NM_000392.5:c.1636G>T, NM_000392.4:c.1636G>A, NM_000392.4:c.1636G>T, NM_000392.3:c.1636G>A, NM_000392.3:c.1636G>T, XM_006717631.5:c.1636G>A, XM_006717631.5:c.1636G>T, XM_006717631.4:c.1636G>A, XM_006717631.4:c.1636G>T, XM_006717631.3:c.1636G>A, XM_006717631.3:c.1636G>T, XM_006717631.2:c.1636G>A, XM_006717631.2:c.1636G>T, XM_006717631.1:c.1636G>A, XM_006717631.1:c.1636G>T, XM_006717630.4:c.940G>A, XM_006717630.4:c.940G>T, XM_006717630.3:c.940G>A, XM_006717630.3:c.940G>T, XM_006717630.2:c.940G>A, XM_006717630.2:c.940G>T, XM_006717630.1:c.940G>A, XM_006717630.1:c.940G>T, XR_945604.4:n.1841G>A, XR_945604.4:n.1841G>T, XR_945604.3:n.1879G>A, XR_945604.3:n.1879G>T, XR_945604.2:n.1858G>A, XR_945604.2:n.1858G>T, XR_945604.1:n.1825G>A, XR_945604.1:n.1825G>T, XM_011539291.4:c.1636G>A, XM_011539291.4:c.1636G>T, XM_011539291.3:c.1636G>A, XM_011539291.3:c.1636G>T, XM_011539291.2:c.1636G>A, XM_011539291.2:c.1636G>T, XM_011539291.1:c.1636G>A, XM_011539291.1:c.1636G>T, XM_017015675.3:c.1636G>A, XM_017015675.3:c.1636G>T, XM_017015675.2:c.1636G>A, XM_017015675.2:c.1636G>T, XM_017015675.1:c.1636G>A, XM_017015675.1:c.1636G>T, XM_047424598.1:c.1636G>A, XM_047424598.1:c.1636G>T, NP_000383.2:p.Val546Ile, NP_000383.2:p.Val546Leu, XP_006717694.1:p.Val546Ile, XP_006717694.1:p.Val546Leu, XP_006717693.1:p.Val314Ile, XP_006717693.1:p.Val314Leu, XP_011537593.1:p.Val546Ile, XP_011537593.1:p.Val546Leu, XP_016871164.1:p.Val546Ile, XP_016871164.1:p.Val546Leu, XP_047280554.1:p.Val546Ile, XP_047280554.1:p.Val546Leu

Select item 147906981216.

rs1479069812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:99817342 (GRCh38)
10:101577099 (GRCh37)
Canonical SPDI:: NC_000010.11:99817341:T:G
Gene:: ABCC2 (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=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99817342T>G, NC_000010.10:g.101577099T>G, NG_011798.2:g.39745T>G, NM_000392.5:c.2129T>G, NM_000392.4:c.2129T>G, NM_000392.3:c.2129T>G, XM_006717631.5:c.2129T>G, XM_006717631.4:c.2129T>G, XM_006717631.3:c.2129T>G, XM_006717631.2:c.2129T>G, XM_006717631.1:c.2129T>G, XM_006717630.4:c.1433T>G, XM_006717630.3:c.1433T>G, XM_006717630.2:c.1433T>G, XM_006717630.1:c.1433T>G, XR_945604.4:n.2334T>G, XR_945604.3:n.2372T>G, XR_945604.2:n.2351T>G, XR_945604.1:n.2318T>G, XM_011539291.4:c.2129T>G, XM_011539291.3:c.2129T>G, XM_011539291.2:c.2129T>G, XM_011539291.1:c.2129T>G, XM_017015675.3:c.2129T>G, XM_017015675.2:c.2129T>G, XM_017015675.1:c.2129T>G, XM_047424598.1:c.2129T>G, NP_000383.2:p.Ile710Ser, XP_006717694.1:p.Ile710Ser, XP_006717693.1:p.Ile478Ser, XP_011537593.1:p.Ile710Ser, XP_016871164.1:p.Ile710Ser, XP_047280554.1:p.Ile710Ser

Select item 147889138717.

rs1478891387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99830385 (GRCh38)
10:101590142 (GRCh37)
Canonical SPDI:: NC_000010.11:99830384:C:T
Gene:: ABCC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.99830385C>T, NC_000010.10:g.101590142C>T, NG_011798.2:g.52788C>T, NM_000392.5:c.2699C>T, NM_000392.4:c.2699C>T, NM_000392.3:c.2699C>T, XM_006717631.5:c.*126C>T, XM_006717631.4:c.*126C>T, XM_006717631.3:c.*126C>T, XM_006717631.2:c.*126C>T, XM_006717631.1:c.*126C>T, XM_006717630.4:c.2003C>T, XM_006717630.3:c.2003C>T, XM_006717630.2:c.2003C>T, XM_006717630.1:c.2003C>T, XR_945604.4:n.2904C>T, XR_945604.3:n.2942C>T, XR_945604.2:n.2921C>T, XR_945604.1:n.2888C>T, XM_011539291.4:c.2699C>T, XM_011539291.3:c.2699C>T, XM_011539291.2:c.2699C>T, XM_011539291.1:c.2699C>T, XM_047424598.1:c.2699C>T, NP_000383.2:p.Ser900Phe, XP_006717693.1:p.Ser668Phe, XP_011537593.1:p.Ser900Phe, XP_047280554.1:p.Ser900Phe

Select item 147723722518.

rs1477237225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:99807423 (GRCh38)
10:101567180 (GRCh37)
Canonical SPDI:: NC_000010.11:99807422:C:A
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99807423C>A, NC_000010.10:g.101567180C>A, NG_011798.2:g.29826C>A, NM_000392.5:c.1570C>A, NM_000392.4:c.1570C>A, NM_000392.3:c.1570C>A, XM_006717631.5:c.1570C>A, XM_006717631.4:c.1570C>A, XM_006717631.3:c.1570C>A, XM_006717631.2:c.1570C>A, XM_006717631.1:c.1570C>A, XM_006717630.4:c.874C>A, XM_006717630.3:c.874C>A, XM_006717630.2:c.874C>A, XM_006717630.1:c.874C>A, XR_945604.4:n.1775C>A, XR_945604.3:n.1813C>A, XR_945604.2:n.1792C>A, XR_945604.1:n.1759C>A, XM_011539291.4:c.1570C>A, XM_011539291.3:c.1570C>A, XM_011539291.2:c.1570C>A, XM_011539291.1:c.1570C>A, XM_017015675.3:c.1570C>A, XM_017015675.2:c.1570C>A, XM_017015675.1:c.1570C>A, XM_047424598.1:c.1570C>A, NP_000383.2:p.Gln524Lys, XP_006717694.1:p.Gln524Lys, XP_006717693.1:p.Gln292Lys, XP_011537593.1:p.Gln524Lys, XP_016871164.1:p.Gln524Lys, XP_047280554.1:p.Gln524Lys

Select item 147654626319.

rs1476546263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:99819124 (GRCh38)
10:101578881 (GRCh37)
Canonical SPDI:: NC_000010.11:99819123:T:C
Gene:: ABCC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99819124T>C, NC_000010.10:g.101578881T>C, NG_011798.2:g.41527T>C, NM_000392.5:c.2475T>C, NM_000392.4:c.2475T>C, NM_000392.3:c.2475T>C, XM_006717631.5:c.2475T>C, XM_006717631.4:c.2475T>C, XM_006717631.3:c.2475T>C, XM_006717631.2:c.2475T>C, XM_006717631.1:c.2475T>C, XM_006717630.4:c.1779T>C, XM_006717630.3:c.1779T>C, XM_006717630.2:c.1779T>C, XM_006717630.1:c.1779T>C, XR_945604.4:n.2680T>C, XR_945604.3:n.2718T>C, XR_945604.2:n.2697T>C, XR_945604.1:n.2664T>C, XM_011539291.4:c.2475T>C, XM_011539291.3:c.2475T>C, XM_011539291.2:c.2475T>C, XM_011539291.1:c.2475T>C, XM_017015675.3:c.2475T>C, XM_017015675.2:c.2475T>C, XM_017015675.1:c.2475T>C, XM_047424598.1:c.2475T>C

Select item 147548252820.

rs1475482528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:99793606 (GRCh38)
10:101553363 (GRCh37)
Canonical SPDI:: NC_000010.11:99793605:G:A,NC_000010.11:99793605:G:C
Gene:: ABCC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99793606G>A, NC_000010.11:g.99793606G>C, NC_000010.10:g.101553363G>A, NC_000010.10:g.101553363G>C, NG_011798.2:g.16009G>A, NG_011798.2:g.16009G>C, NM_000392.5:c.389G>A, NM_000392.5:c.389G>C, NM_000392.4:c.389G>A, NM_000392.4:c.389G>C, NM_000392.3:c.389G>A, NM_000392.3:c.389G>C, XM_006717631.5:c.389G>A, XM_006717631.5:c.389G>C, XM_006717631.4:c.389G>A, XM_006717631.4:c.389G>C, XM_006717631.3:c.389G>A, XM_006717631.3:c.389G>C, XM_006717631.2:c.389G>A, XM_006717631.2:c.389G>C, XM_006717631.1:c.389G>A, XM_006717631.1:c.389G>C, XR_945604.4:n.594G>A, XR_945604.4:n.594G>C, XR_945604.3:n.632G>A, XR_945604.3:n.632G>C, XR_945604.2:n.611G>A, XR_945604.2:n.611G>C, XR_945604.1:n.578G>A, XR_945604.1:n.578G>C, XM_011539291.4:c.389G>A, XM_011539291.4:c.389G>C, XM_011539291.3:c.389G>A, XM_011539291.3:c.389G>C, XM_011539291.2:c.389G>A, XM_011539291.2:c.389G>C, XM_011539291.1:c.389G>A, XM_011539291.1:c.389G>C, XM_017015675.3:c.389G>A, XM_017015675.3:c.389G>C, XM_017015675.2:c.389G>A, XM_017015675.2:c.389G>C, XM_017015675.1:c.389G>A, XM_017015675.1:c.389G>C, XM_047424598.1:c.389G>A, XM_047424598.1:c.389G>C, NP_000383.2:p.Trp130Ter, NP_000383.2:p.Trp130Ser, XP_006717694.1:p.Trp130Ter, XP_006717694.1:p.Trp130Ser, XP_011537593.1:p.Trp130Ter, XP_011537593.1:p.Trp130Ser, XP_016871164.1:p.Trp130Ter, XP_016871164.1:p.Trp130Ser, XP_047280554.1:p.Trp130Ter, XP_047280554.1:p.Trp130Ser

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