SNP Links for Protein (Select 1034615234) - SNP

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:3683854 (GRCh38)
2:3731444 (GRCh37)
Canonical SPDI:: NC_000002.12:3683853:A:C
Gene:: ALLC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.3683854A>C, NC_000002.11:g.3731444A>C, XM_017004498.1:c.13A>C, XP_016859987.1:p.Ile5Leu

Select item 140445402018.

rs1404454020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:3697411 (GRCh38)
2:3745001 (GRCh37)
Canonical SPDI:: NC_000002.12:3697410:C:G
Gene:: ALLC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3697411C>G, NC_000002.11:g.3745001C>G, NM_018436.4:c.805C>G, NM_018436.3:c.805C>G, XM_017004496.3:c.670C>G, XM_017004496.2:c.670C>G, XM_017004496.1:c.670C>G, XM_011510369.3:c.670C>G, XM_011510369.2:c.670C>G, XM_011510369.1:c.670C>G, XM_017004495.2:c.1009C>G, XM_017004495.1:c.1009C>G, NM_199232.1:c.118C>G, XM_017004497.1:c.394C>G, XM_017004498.1:c.340C>G, NP_060906.3:p.Pro269Ala, XP_016859985.1:p.Pro224Ala, XP_011508671.1:p.Pro224Ala, XP_016859984.1:p.Pro337Ala, XP_016859986.1:p.Pro132Ala, XP_016859987.1:p.Pro114Ala

Select item 140357533519.

rs1403575335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3695821 (GRCh38)
2:3743411 (GRCh37)
Canonical SPDI:: NC_000002.12:3695820:G:A
Gene:: ALLC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3695821G>A, NC_000002.11:g.3743411G>A, NM_018436.4:c.616G>A, NM_018436.3:c.616G>A, XM_017004496.3:c.481G>A, XM_017004496.2:c.481G>A, XM_017004496.1:c.481G>A, XM_011510369.3:c.481G>A, XM_011510369.2:c.481G>A, XM_011510369.1:c.481G>A, XM_017004495.2:c.820G>A, XM_017004495.1:c.820G>A, NM_199232.1:c.-72G>A, XM_017004497.1:c.205G>A, XM_017004498.1:c.151G>A, NP_060906.3:p.Val206Ile, XP_016859985.1:p.Val161Ile, XP_011508671.1:p.Val161Ile, XP_016859984.1:p.Val274Ile, XP_016859986.1:p.Val69Ile, XP_016859987.1:p.Val51Ile

Select item 140276179820.

rs1402761798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3702504 (GRCh38)
2:3750094 (GRCh37)
Canonical SPDI:: NC_000002.12:3702503:C:T
Gene:: ALLC (Varview), DCDC2C (Varview), LOC105373393 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3702504C>T, NC_000002.11:g.3750094C>T, NM_018436.4:c.1117C>T, NM_018436.3:c.1117C>T, XM_017004496.3:c.982C>T, XM_017004496.2:c.982C>T, XM_017004496.1:c.982C>T, XM_011510369.3:c.982C>T, XM_011510369.2:c.982C>T, XM_011510369.1:c.982C>T, XM_017004495.2:c.1321C>T, XM_017004495.1:c.1321C>T, NM_199232.1:c.430C>T, XM_017004497.1:c.706C>T, XM_017004498.1:c.652C>T

dbSNP