SNP Links for Protein (Select 302344767) - SNP

Links from Protein

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Select item 14895180421.

rs1489518042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:52961621 (GRCh38)
1:53427293 (GRCh37)
Canonical SPDI:: NC_000001.11:52961620:A:G
Gene:: SCP2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.52961621A>G, NC_000001.10:g.53427293A>G, NG_012211.1:g.39346A>G, NM_002979.5:c.515A>G, NM_002979.4:c.515A>G, NM_001007098.3:c.383A>G, NM_001007098.2:c.383A>G, NM_001193617.2:c.272A>G, NM_001193617.1:c.272A>G, NM_001193599.2:c.443A>G, NM_001193599.1:c.443A>G, NM_001193600.2:c.383A>G, NM_001193600.1:c.383A>G, NM_001330587.2:c.515A>G, NM_001330587.1:c.515A>G, XM_005271103.5:c.515A>G, XM_005271103.4:c.515A>G, XM_005271103.3:c.515A>G, XM_005271103.2:c.515A>G, XM_005271103.1:c.515A>G, XM_011541935.3:c.515A>G, XM_011541935.2:c.515A>G, XM_011541935.1:c.515A>G, XM_047427504.1:c.515A>G, XM_047427507.1:c.515A>G, XM_047427506.1:c.515A>G, XM_047427508.1:c.383A>G, NP_002970.2:p.Glu172Gly, NP_001007099.1:p.Glu128Gly, NP_001180546.1:p.Glu91Gly, NP_001180528.1:p.Glu148Gly, NP_001180529.1:p.Glu128Gly, NP_001317516.1:p.Glu172Gly, XP_005271160.1:p.Glu172Gly, XP_011540237.1:p.Glu172Gly, XP_047283460.1:p.Glu172Gly, XP_047283463.1:p.Glu172Gly, XP_047283462.1:p.Glu172Gly, XP_047283464.1:p.Glu128Gly

Select item 14889641892.

rs1488964189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:52988091 (GRCh38)
1:53453763 (GRCh37)
Canonical SPDI:: NC_000001.11:52988090:C:G
Gene:: SCP2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52988091C>G, NC_000001.10:g.53453763C>G, NG_012211.1:g.65816C>G, NM_002979.5:c.1036C>G, NM_002979.4:c.1036C>G, NM_001007098.3:c.904C>G, NM_001007098.2:c.904C>G, NM_001193617.2:c.793C>G, NM_001193617.1:c.793C>G, NM_001193599.2:c.964C>G, NM_001193599.1:c.964C>G, NM_001193600.2:c.904C>G, NM_001193600.1:c.904C>G, NM_001330587.2:c.1036C>G, NM_001330587.1:c.1036C>G, XM_005271103.5:c.1036C>G, XM_005271103.4:c.1036C>G, XM_005271103.3:c.1036C>G, XM_005271103.2:c.1036C>G, XM_005271103.1:c.1036C>G, XM_011541935.3:c.1036C>G, XM_011541935.2:c.1036C>G, XM_011541935.1:c.1036C>G, XM_047427504.1:c.1036C>G, XM_047427507.1:c.1036C>G, XM_047427506.1:c.1036C>G, XM_047427508.1:c.904C>G, NP_002970.2:p.Pro346Ala, NP_001007099.1:p.Pro302Ala, NP_001180546.1:p.Pro265Ala, NP_001180528.1:p.Pro322Ala, NP_001180529.1:p.Pro302Ala, NP_001317516.1:p.Pro346Ala, XP_005271160.1:p.Pro346Ala, XP_011540237.1:p.Pro346Ala, XP_047283460.1:p.Pro346Ala, XP_047283463.1:p.Pro346Ala, XP_047283462.1:p.Pro346Ala, XP_047283464.1:p.Pro302Ala

Select item 14863168223.

rs1486316822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:53014989 (GRCh38)
1:53480661 (GRCh37)
Canonical SPDI:: NC_000001.11:53014988:T:C
Gene:: SCP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.53014989T>C, NC_000001.10:g.53480661T>C, NG_012211.1:g.92714T>C, NM_002979.5:c.1181T>C, NM_002979.4:c.1181T>C, NM_001007099.3:c.-32T>C, NM_001007099.2:c.-32T>C, NM_001007100.3:c.-32T>C, NM_001007100.2:c.-32T>C, NM_001007250.3:c.-32T>C, NM_001007250.2:c.-32T>C, NM_001193617.2:c.938T>C, NM_001193617.1:c.938T>C, NM_001193599.2:c.1109T>C, NM_001193599.1:c.1109T>C, NM_001193600.2:c.1049T>C, NM_001193600.1:c.1049T>C, XM_005271103.5:c.1181T>C, XM_005271103.4:c.1181T>C, XM_005271103.3:c.1181T>C, XM_005271103.2:c.1181T>C, XM_005271103.1:c.1181T>C, XM_047427504.1:c.1181T>C, NP_002970.2:p.Ile394Thr, NP_001180546.1:p.Ile313Thr, NP_001180528.1:p.Ile370Thr, NP_001180529.1:p.Ile350Thr, XP_005271160.1:p.Ile394Thr, XP_047283460.1:p.Ile394Thr

Select item 14805548874.

rs1480554887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:53028020 (GRCh38)
1:53493692 (GRCh37)
Canonical SPDI:: NC_000001.11:53028019:T:A
Gene:: SCP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.53028020T>A, NC_000001.10:g.53493692T>A, NG_012211.1:g.105745T>A, NM_002979.5:c.1287T>A, NM_002979.4:c.1287T>A, NM_001007099.3:c.75T>A, NM_001007099.2:c.75T>A, NM_001007100.3:c.66T>A, NM_001007100.2:c.66T>A, NM_001007250.3:c.75T>A, NM_001007250.2:c.75T>A, NM_001193617.2:c.1044T>A, NM_001193617.1:c.1044T>A, NM_001193599.2:c.1215T>A, NM_001193599.1:c.1215T>A, NM_001193600.2:c.1155T>A, NM_001193600.1:c.1155T>A, XM_005271103.5:c.1287T>A, XM_005271103.4:c.1287T>A, XM_005271103.3:c.1287T>A, XM_005271103.2:c.1287T>A, XM_005271103.1:c.1287T>A, XM_047427504.1:c.1287T>A, NP_002970.2:p.Asp429Glu, NP_001007100.1:p.Asp25Glu, NP_001007101.1:p.Asp22Glu, NP_001007251.1:p.Asp25Glu, NP_001180546.1:p.Asp348Glu, NP_001180528.1:p.Asp405Glu, NP_001180529.1:p.Asp385Glu, XP_005271160.1:p.Asp429Glu, XP_047283460.1:p.Asp429Glu

Select item 14803971125.

rs1480397112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:52980541 (GRCh38)
1:53446213 (GRCh37)
Canonical SPDI:: NC_000001.11:52980540:A:G
Gene:: SCP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52980541A>G, NC_000001.10:g.53446213A>G, NG_012211.1:g.58266A>G, NM_002979.5:c.971A>G, NM_002979.4:c.971A>G, NM_001007098.3:c.839A>G, NM_001007098.2:c.839A>G, NM_001193617.2:c.728A>G, NM_001193617.1:c.728A>G, NM_001193599.2:c.899A>G, NM_001193599.1:c.899A>G, NM_001193600.2:c.839A>G, NM_001193600.1:c.839A>G, NM_001330587.2:c.971A>G, NM_001330587.1:c.971A>G, XM_005271103.5:c.971A>G, XM_005271103.4:c.971A>G, XM_005271103.3:c.971A>G, XM_005271103.2:c.971A>G, XM_005271103.1:c.971A>G, XM_011541935.3:c.971A>G, XM_011541935.2:c.971A>G, XM_011541935.1:c.971A>G, XM_047427504.1:c.971A>G, XM_047427507.1:c.971A>G, XM_047427506.1:c.971A>G, XM_047427508.1:c.839A>G, NP_002970.2:p.Glu324Gly, NP_001007099.1:p.Glu280Gly, NP_001180546.1:p.Glu243Gly, NP_001180528.1:p.Glu300Gly, NP_001180529.1:p.Glu280Gly, NP_001317516.1:p.Glu324Gly, XP_005271160.1:p.Glu324Gly, XP_011540237.1:p.Glu324Gly, XP_047283460.1:p.Glu324Gly, XP_047283463.1:p.Glu324Gly, XP_047283462.1:p.Glu324Gly, XP_047283464.1:p.Glu280Gly

Select item 14797975456.

rs1479797545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52950883 (GRCh38)
1:53416555 (GRCh37)
Canonical SPDI:: NC_000001.11:52950882:G:A
Gene:: SCP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.52950883G>A, NC_000001.10:g.53416555G>A, NG_012211.1:g.28608G>A, NM_002979.5:c.328G>A, NM_002979.4:c.328G>A, NM_001193617.2:c.85G>A, NM_001193617.1:c.85G>A, NM_001193599.2:c.256G>A, NM_001193599.1:c.256G>A, NM_001330587.2:c.328G>A, NM_001330587.1:c.328G>A, XM_005271103.5:c.328G>A, XM_005271103.4:c.328G>A, XM_005271103.3:c.328G>A, XM_005271103.2:c.328G>A, XM_005271103.1:c.328G>A, XM_011541935.3:c.328G>A, XM_011541935.2:c.328G>A, XM_011541935.1:c.328G>A, XM_047427504.1:c.328G>A, XM_047427507.1:c.328G>A, XM_047427506.1:c.328G>A, NP_002970.2:p.Gly110Ser, NP_001180546.1:p.Gly29Ser, NP_001180528.1:p.Gly86Ser, NP_001317516.1:p.Gly110Ser, XP_005271160.1:p.Gly110Ser, XP_011540237.1:p.Gly110Ser, XP_047283460.1:p.Gly110Ser, XP_047283463.1:p.Gly110Ser, XP_047283462.1:p.Gly110Ser

Select item 14784960757.

rs1478496075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:52974772 (GRCh38)
1:53440444 (GRCh37)
Canonical SPDI:: NC_000001.11:52974771:C:T
Gene:: SCP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52974772C>T, NC_000001.10:g.53440444C>T, NG_012211.1:g.52497C>T, NM_002979.5:c.527C>T, NM_002979.4:c.527C>T, NM_001007098.3:c.395C>T, NM_001007098.2:c.395C>T, NM_001193617.2:c.284C>T, NM_001193617.1:c.284C>T, NM_001193599.2:c.455C>T, NM_001193599.1:c.455C>T, NM_001193600.2:c.395C>T, NM_001193600.1:c.395C>T, NM_001330587.2:c.527C>T, NM_001330587.1:c.527C>T, XM_005271103.5:c.527C>T, XM_005271103.4:c.527C>T, XM_005271103.3:c.527C>T, XM_005271103.2:c.527C>T, XM_005271103.1:c.527C>T, XM_011541935.3:c.527C>T, XM_011541935.2:c.527C>T, XM_011541935.1:c.527C>T, XM_047427504.1:c.527C>T, XM_047427507.1:c.527C>T, XM_047427506.1:c.527C>T, XM_047427508.1:c.395C>T, NP_002970.2:p.Thr176Ile, NP_001007099.1:p.Thr132Ile, NP_001180546.1:p.Thr95Ile, NP_001180528.1:p.Thr152Ile, NP_001180529.1:p.Thr132Ile, NP_001317516.1:p.Thr176Ile, XP_005271160.1:p.Thr176Ile, XP_011540237.1:p.Thr176Ile, XP_047283460.1:p.Thr176Ile, XP_047283463.1:p.Thr176Ile, XP_047283462.1:p.Thr176Ile, XP_047283464.1:p.Thr132Ile

Select item 14776576138.

rs1477657613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:52980518 (GRCh38)
1:53446190 (GRCh37)
Canonical SPDI:: NC_000001.11:52980517:T:A,NC_000001.11:52980517:T:C
Gene:: SCP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.52980518T>A, NC_000001.11:g.52980518T>C, NC_000001.10:g.53446190T>A, NC_000001.10:g.53446190T>C, NG_012211.1:g.58243T>A, NG_012211.1:g.58243T>C, NM_002979.5:c.948T>A, NM_002979.5:c.948T>C, NM_002979.4:c.948T>A, NM_002979.4:c.948T>C, NM_001007098.3:c.816T>A, NM_001007098.3:c.816T>C, NM_001007098.2:c.816T>A, NM_001007098.2:c.816T>C, NM_001193617.2:c.705T>A, NM_001193617.2:c.705T>C, NM_001193617.1:c.705T>A, NM_001193617.1:c.705T>C, NM_001193599.2:c.876T>A, NM_001193599.2:c.876T>C, NM_001193599.1:c.876T>A, NM_001193599.1:c.876T>C, NM_001193600.2:c.816T>A, NM_001193600.2:c.816T>C, NM_001193600.1:c.816T>A, NM_001193600.1:c.816T>C, NM_001330587.2:c.948T>A, NM_001330587.2:c.948T>C, NM_001330587.1:c.948T>A, NM_001330587.1:c.948T>C, XM_005271103.5:c.948T>A, XM_005271103.5:c.948T>C, XM_005271103.4:c.948T>A, XM_005271103.4:c.948T>C, XM_005271103.3:c.948T>A, XM_005271103.3:c.948T>C, XM_005271103.2:c.948T>A, XM_005271103.2:c.948T>C, XM_005271103.1:c.948T>A, XM_005271103.1:c.948T>C, XM_011541935.3:c.948T>A, XM_011541935.3:c.948T>C, XM_011541935.2:c.948T>A, XM_011541935.2:c.948T>C, XM_011541935.1:c.948T>A, XM_011541935.1:c.948T>C, XM_047427504.1:c.948T>A, XM_047427504.1:c.948T>C, XM_047427507.1:c.948T>A, XM_047427507.1:c.948T>C, XM_047427506.1:c.948T>A, XM_047427506.1:c.948T>C, XM_047427508.1:c.816T>A, XM_047427508.1:c.816T>C, NP_002970.2:p.Tyr316Ter, NP_001007099.1:p.Tyr272Ter, NP_001180546.1:p.Tyr235Ter, NP_001180528.1:p.Tyr292Ter, NP_001180529.1:p.Tyr272Ter, NP_001317516.1:p.Tyr316Ter, XP_005271160.1:p.Tyr316Ter, XP_011540237.1:p.Tyr316Ter, XP_047283460.1:p.Tyr316Ter, XP_047283463.1:p.Tyr316Ter, XP_047283462.1:p.Tyr316Ter, XP_047283464.1:p.Tyr272Ter

Select item 14729477929.

rs1472947792 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:52974785 (GRCh38)
1:53440457 (GRCh37)
Canonical SPDI:: NC_000001.11:52974784:C:
Gene:: SCP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.52974785del, NC_000001.10:g.53440457del, NG_012211.1:g.52510del, NM_002979.5:c.540del, NM_002979.4:c.540del, NM_001007098.3:c.408del, NM_001007098.2:c.408del, NM_001193617.2:c.297del, NM_001193617.1:c.297del, NM_001193599.2:c.468del, NM_001193599.1:c.468del, NM_001193600.2:c.408del, NM_001193600.1:c.408del, NM_001330587.2:c.540del, NM_001330587.1:c.540del, XM_005271103.5:c.540del, XM_005271103.4:c.540del, XM_005271103.3:c.540del, XM_005271103.2:c.540del, XM_005271103.1:c.540del, XM_011541935.3:c.540del, XM_011541935.2:c.540del, XM_011541935.1:c.540del, XM_047427504.1:c.540del, XM_047427507.1:c.540del, XM_047427506.1:c.540del, XM_047427508.1:c.408del, NP_002970.2:p.Phe181fs, NP_001007099.1:p.Phe137fs, NP_001180546.1:p.Phe100fs, NP_001180528.1:p.Phe157fs, NP_001180529.1:p.Phe137fs, NP_001317516.1:p.Phe181fs, XP_005271160.1:p.Phe181fs, XP_011540237.1:p.Phe181fs, XP_047283460.1:p.Phe181fs, XP_047283463.1:p.Phe181fs, XP_047283462.1:p.Phe181fs, XP_047283464.1:p.Phe137fs

Select item 146772148210.

rs1467721482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:53027976 (GRCh38)
1:53493648 (GRCh37)
Canonical SPDI:: NC_000001.11:53027975:A:G
Gene:: SCP2 (Varview)
Functional Consequence:: missense_variant,splice_acceptor_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.53027976A>G, NC_000001.10:g.53493648A>G, NG_012211.1:g.105701A>G, NM_002979.5:c.1243A>G, NM_002979.4:c.1243A>G, NM_001007099.3:c.31A>G, NM_001007099.2:c.31A>G, NM_001007250.3:c.31A>G, NM_001007250.2:c.31A>G, NM_001193617.2:c.1000A>G, NM_001193617.1:c.1000A>G, NM_001193599.2:c.1171A>G, NM_001193599.1:c.1171A>G, NM_001193600.2:c.1111A>G, NM_001193600.1:c.1111A>G, XM_005271103.5:c.1243A>G, XM_005271103.4:c.1243A>G, XM_005271103.3:c.1243A>G, XM_005271103.2:c.1243A>G, XM_005271103.1:c.1243A>G, XM_047427504.1:c.1243A>G, NP_002970.2:p.Arg415Gly, NP_001007100.1:p.Arg11Gly, NP_001007251.1:p.Arg11Gly, NP_001180546.1:p.Arg334Gly, NP_001180528.1:p.Arg391Gly, NP_001180529.1:p.Arg371Gly, XP_005271160.1:p.Arg415Gly, XP_047283460.1:p.Arg415Gly

Select item 146708359611.

rs1467083596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:53039017 (GRCh38)
1:53504689 (GRCh37)
Canonical SPDI:: NC_000001.11:53039016:A:C
Gene:: SCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_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.53039017A>C, NC_000001.10:g.53504689A>C, NG_012211.1:g.116742A>C, NM_002979.5:c.1439A>C, NM_002979.4:c.1439A>C, NM_001007099.3:c.227A>C, NM_001007099.2:c.227A>C, NM_001007100.3:c.218A>C, NM_001007100.2:c.218A>C, NM_001193617.2:c.1196A>C, NM_001193617.1:c.1196A>C, NM_001193599.2:c.1367A>C, NM_001193599.1:c.1367A>C, NM_001193600.2:c.1307A>C, NM_001193600.1:c.1307A>C, NP_002970.2:p.Asn480Thr, NP_001007100.1:p.Asn76Thr, NP_001007101.1:p.Asn73Thr, NP_001180546.1:p.Asn399Thr, NP_001180528.1:p.Asn456Thr, NP_001180529.1:p.Asn436Thr

Select item 146507776012.

rs1465077760 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:52988124 (GRCh38)
1:53453797 (GRCh37)
Canonical SPDI:: NC_000001.11:52988124:T:TT
Gene:: SCP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.52988125dup, NC_000001.10:g.53453797dup, NG_012211.1:g.65850dup, NM_002979.5:c.1070dup, NM_002979.4:c.1070dup, NM_001007098.3:c.938dup, NM_001007098.2:c.938dup, NM_001193617.2:c.827dup, NM_001193617.1:c.827dup, NM_001193599.2:c.998dup, NM_001193599.1:c.998dup, NM_001193600.2:c.938dup, NM_001193600.1:c.938dup, NM_001330587.2:c.1070dup, NM_001330587.1:c.1070dup, XM_005271103.5:c.1070dup, XM_005271103.4:c.1070dup, XM_005271103.3:c.1070dup, XM_005271103.2:c.1070dup, XM_005271103.1:c.1070dup, XM_011541935.3:c.1070dup, XM_011541935.2:c.1070dup, XM_011541935.1:c.1070dup, XM_047427504.1:c.1070dup, XM_047427507.1:c.1070dup, XM_047427506.1:c.1070dup, XM_047427508.1:c.938dup, NP_002970.2:p.Gly358fs, NP_001007099.1:p.Gly314fs, NP_001180546.1:p.Gly277fs, NP_001180528.1:p.Gly334fs, NP_001180529.1:p.Gly314fs, NP_001317516.1:p.Gly358fs, XP_005271160.1:p.Gly358fs, XP_011540237.1:p.Gly358fs, XP_047283460.1:p.Gly358fs, XP_047283463.1:p.Gly358fs, XP_047283462.1:p.Gly358fs, XP_047283464.1:p.Gly314fs

Select item 146341185813.

rs1463411858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:53050609 (GRCh38)
1:53516281 (GRCh37)
Canonical SPDI:: NC_000001.11:53050608:G:T
Gene:: SCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.53050609G>T, NC_000001.10:g.53516281G>T, NG_012211.1:g.128334G>T, NM_002979.5:c.1549G>T, NM_002979.4:c.1549G>T, NM_001007099.3:c.337G>T, NM_001007099.2:c.337G>T, NM_001007100.3:c.328G>T, NM_001007100.2:c.328G>T, NM_001007250.3:c.*27G>T, NM_001007250.2:c.*27G>T, NM_001193617.2:c.1306G>T, NM_001193617.1:c.1306G>T, NM_001193599.2:c.1477G>T, NM_001193599.1:c.1477G>T, NM_001193600.2:c.1417G>T, NM_001193600.1:c.1417G>T, XM_005271103.5:c.*27G>T, XM_005271103.4:c.*27G>T, XM_005271103.3:c.*27G>T, XM_005271103.2:c.*27G>T, XM_005271103.1:c.*27G>T, XM_047427504.1:c.*2698G>T, NP_002970.2:p.Ala517Ser, NP_001007100.1:p.Ala113Ser, NP_001007101.1:p.Ala110Ser, NP_001180546.1:p.Ala436Ser, NP_001180528.1:p.Ala493Ser, NP_001180529.1:p.Ala473Ser

Select item 146327378414.

rs1463273784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:52978222 (GRCh38)
1:53443894 (GRCh37)
Canonical SPDI:: NC_000001.11:52978221:C:T
Gene:: SCP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.52978222C>T, NC_000001.10:g.53443894C>T, NG_012211.1:g.55947C>T, NM_002979.5:c.680C>T, NM_002979.4:c.680C>T, NM_001007098.3:c.548C>T, NM_001007098.2:c.548C>T, NM_001193617.2:c.437C>T, NM_001193617.1:c.437C>T, NM_001193599.2:c.608C>T, NM_001193599.1:c.608C>T, NM_001193600.2:c.548C>T, NM_001193600.1:c.548C>T, NM_001330587.2:c.680C>T, NM_001330587.1:c.680C>T, XM_005271103.5:c.680C>T, XM_005271103.4:c.680C>T, XM_005271103.3:c.680C>T, XM_005271103.2:c.680C>T, XM_005271103.1:c.680C>T, XM_011541935.3:c.680C>T, XM_011541935.2:c.680C>T, XM_011541935.1:c.680C>T, XM_047427504.1:c.680C>T, XM_047427507.1:c.680C>T, XM_047427506.1:c.680C>T, XM_047427508.1:c.548C>T, NP_002970.2:p.Thr227Ile, NP_001007099.1:p.Thr183Ile, NP_001180546.1:p.Thr146Ile, NP_001180528.1:p.Thr203Ile, NP_001180529.1:p.Thr183Ile, NP_001317516.1:p.Thr227Ile, XP_005271160.1:p.Thr227Ile, XP_011540237.1:p.Thr227Ile, XP_047283460.1:p.Thr227Ile, XP_047283463.1:p.Thr227Ile, XP_047283462.1:p.Thr227Ile, XP_047283464.1:p.Thr183Ile

Select item 146248535015.

rs1462485350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:53047931 (GRCh38)
1:53513603 (GRCh37)
Canonical SPDI:: NC_000001.11:53047930:T:C
Gene:: SCP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.53047931T>C, NC_000001.10:g.53513603T>C, NG_012211.1:g.125656T>C, NM_002979.5:c.1542T>C, NM_002979.4:c.1542T>C, NM_001007099.3:c.330T>C, NM_001007099.2:c.330T>C, NM_001007100.3:c.321T>C, NM_001007100.2:c.321T>C, NM_001007250.3:c.*20T>C, NM_001007250.2:c.*20T>C, NM_001193617.2:c.1299T>C, NM_001193617.1:c.1299T>C, NM_001193599.2:c.1470T>C, NM_001193599.1:c.1470T>C, NM_001193600.2:c.1410T>C, NM_001193600.1:c.1410T>C, XM_005271103.5:c.*20T>C, XM_005271103.4:c.*20T>C, XM_005271103.3:c.*20T>C, XM_005271103.2:c.*20T>C, XM_005271103.1:c.*20T>C, XM_047427504.1:c.*20T>C

Select item 146009029916.

rs1460090299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52961629 (GRCh38)
1:53427301 (GRCh37)
Canonical SPDI:: NC_000001.11:52961628:G:A
Gene:: SCP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52961629G>A, NC_000001.10:g.53427301G>A, NG_012211.1:g.39354G>A, NM_002979.5:c.523G>A, NM_002979.4:c.523G>A, NM_001007098.3:c.391G>A, NM_001007098.2:c.391G>A, NM_001193617.2:c.280G>A, NM_001193617.1:c.280G>A, NM_001193599.2:c.451G>A, NM_001193599.1:c.451G>A, NM_001193600.2:c.391G>A, NM_001193600.1:c.391G>A, NM_001330587.2:c.523G>A, NM_001330587.1:c.523G>A, XM_005271103.5:c.523G>A, XM_005271103.4:c.523G>A, XM_005271103.3:c.523G>A, XM_005271103.2:c.523G>A, XM_005271103.1:c.523G>A, XM_011541935.3:c.523G>A, XM_011541935.2:c.523G>A, XM_011541935.1:c.523G>A, XM_047427504.1:c.523G>A, XM_047427507.1:c.523G>A, XM_047427506.1:c.523G>A, XM_047427508.1:c.391G>A, NP_002970.2:p.Gly175Arg, NP_001007099.1:p.Gly131Arg, NP_001180546.1:p.Gly94Arg, NP_001180528.1:p.Gly151Arg, NP_001180529.1:p.Gly131Arg, NP_001317516.1:p.Gly175Arg, XP_005271160.1:p.Gly175Arg, XP_011540237.1:p.Gly175Arg, XP_047283460.1:p.Gly175Arg, XP_047283463.1:p.Gly175Arg, XP_047283462.1:p.Gly175Arg, XP_047283464.1:p.Gly131Arg

Select item 145823444817.

rs1458234448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:53050700 (GRCh38)
1:53516372 (GRCh37)
Canonical SPDI:: NC_000001.11:53050699:T:C
Gene:: SCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.53050700T>C, NC_000001.10:g.53516372T>C, NG_012211.1:g.128425T>C, NM_002979.5:c.1640T>C, NM_002979.4:c.1640T>C, NM_001007099.3:c.428T>C, NM_001007099.2:c.428T>C, NM_001007100.3:c.419T>C, NM_001007100.2:c.419T>C, NM_001007250.3:c.*118T>C, NM_001007250.2:c.*118T>C, NM_001193617.2:c.1397T>C, NM_001193617.1:c.1397T>C, NM_001193599.2:c.1568T>C, NM_001193599.1:c.1568T>C, NM_001193600.2:c.1508T>C, NM_001193600.1:c.1508T>C, XM_005271103.5:c.*118T>C, XM_005271103.4:c.*118T>C, XM_005271103.3:c.*118T>C, XM_005271103.2:c.*118T>C, XM_005271103.1:c.*118T>C, XM_047427504.1:c.*2789T>C, NP_002970.2:p.Leu547Pro, NP_001007100.1:p.Leu143Pro, NP_001007101.1:p.Leu140Pro, NP_001180546.1:p.Leu466Pro, NP_001180528.1:p.Leu523Pro, NP_001180529.1:p.Leu503Pro

Select item 145605209518.

rs1456052095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:53050645 (GRCh38)
1:53516317 (GRCh37)
Canonical SPDI:: NC_000001.11:53050644:A:G
Gene:: SCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.53050645A>G, NC_000001.10:g.53516317A>G, NG_012211.1:g.128370A>G, NM_002979.5:c.1585A>G, NM_002979.4:c.1585A>G, NM_001007099.3:c.373A>G, NM_001007099.2:c.373A>G, NM_001007100.3:c.364A>G, NM_001007100.2:c.364A>G, NM_001007250.3:c.*63A>G, NM_001007250.2:c.*63A>G, NM_001193617.2:c.1342A>G, NM_001193617.1:c.1342A>G, NM_001193599.2:c.1513A>G, NM_001193599.1:c.1513A>G, NM_001193600.2:c.1453A>G, NM_001193600.1:c.1453A>G, XM_005271103.5:c.*63A>G, XM_005271103.4:c.*63A>G, XM_005271103.3:c.*63A>G, XM_005271103.2:c.*63A>G, XM_005271103.1:c.*63A>G, XM_047427504.1:c.*2734A>G, NP_002970.2:p.Met529Val, NP_001007100.1:p.Met125Val, NP_001007101.1:p.Met122Val, NP_001180546.1:p.Met448Val, NP_001180528.1:p.Met505Val, NP_001180529.1:p.Met485Val

Select item 145166523119.

rs1451665231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:52976747 (GRCh38)
1:53442419 (GRCh37)
Canonical SPDI:: NC_000001.11:52976746:T:A
Gene:: SCP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52976747T>A, NC_000001.10:g.53442419T>A, NG_012211.1:g.54472T>A, NM_002979.5:c.652T>A, NM_002979.4:c.652T>A, NM_001007098.3:c.520T>A, NM_001007098.2:c.520T>A, NM_001193617.2:c.409T>A, NM_001193617.1:c.409T>A, NM_001193599.2:c.580T>A, NM_001193599.1:c.580T>A, NM_001193600.2:c.520T>A, NM_001193600.1:c.520T>A, NM_001330587.2:c.652T>A, NM_001330587.1:c.652T>A, XM_005271103.5:c.652T>A, XM_005271103.4:c.652T>A, XM_005271103.3:c.652T>A, XM_005271103.2:c.652T>A, XM_005271103.1:c.652T>A, XM_011541935.3:c.652T>A, XM_011541935.2:c.652T>A, XM_011541935.1:c.652T>A, XM_047427504.1:c.652T>A, XM_047427507.1:c.652T>A, XM_047427506.1:c.652T>A, XM_047427508.1:c.520T>A, NP_002970.2:p.Phe218Ile, NP_001007099.1:p.Phe174Ile, NP_001180546.1:p.Phe137Ile, NP_001180528.1:p.Phe194Ile, NP_001180529.1:p.Phe174Ile, NP_001317516.1:p.Phe218Ile, XP_005271160.1:p.Phe218Ile, XP_011540237.1:p.Phe218Ile, XP_047283460.1:p.Phe218Ile, XP_047283463.1:p.Phe218Ile, XP_047283462.1:p.Phe218Ile, XP_047283464.1:p.Phe174Ile

Select item 144829297320.

rs1448292973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52980396 (GRCh38)
1:53446068 (GRCh37)
Canonical SPDI:: NC_000001.11:52980395:G:A
Gene:: SCP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52980396G>A, NC_000001.10:g.53446068G>A, NG_012211.1:g.58121G>A, NM_002979.5:c.826G>A, NM_002979.4:c.826G>A, NM_001007098.3:c.694G>A, NM_001007098.2:c.694G>A, NM_001193617.2:c.583G>A, NM_001193617.1:c.583G>A, NM_001193599.2:c.754G>A, NM_001193599.1:c.754G>A, NM_001193600.2:c.694G>A, NM_001193600.1:c.694G>A, NM_001330587.2:c.826G>A, NM_001330587.1:c.826G>A, XM_005271103.5:c.826G>A, XM_005271103.4:c.826G>A, XM_005271103.3:c.826G>A, XM_005271103.2:c.826G>A, XM_005271103.1:c.826G>A, XM_011541935.3:c.826G>A, XM_011541935.2:c.826G>A, XM_011541935.1:c.826G>A, XM_047427504.1:c.826G>A, XM_047427507.1:c.826G>A, XM_047427506.1:c.826G>A, XM_047427508.1:c.694G>A, NP_002970.2:p.Val276Ile, NP_001007099.1:p.Val232Ile, NP_001180546.1:p.Val195Ile, NP_001180528.1:p.Val252Ile, NP_001180529.1:p.Val232Ile, NP_001317516.1:p.Val276Ile, XP_005271160.1:p.Val276Ile, XP_011540237.1:p.Val276Ile, XP_047283460.1:p.Val276Ile, XP_047283463.1:p.Val276Ile, XP_047283462.1:p.Val276Ile, XP_047283464.1:p.Val232Ile

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