SNP Links for Protein (Select 34452723) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

<< First< Prev

Select item 14875642171.

rs1487564217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:46965040 (GRCh38)
4:46967057 (GRCh37)
Canonical SPDI:: NC_000004.12:46965039:G:A
Gene:: GABRA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.46965040G>A, NC_000004.11:g.46967057G>A, NG_011809.1:g.33524C>T, NM_000809.4:c.1064C>T, NM_000809.3:c.1064C>T, NM_001204266.2:c.1007C>T, NM_001204266.1:c.1007C>T, NM_001204267.2:c.854C>T, NM_001204267.1:c.854C>T, NP_000800.2:p.Thr355Ile, NP_001191195.1:p.Thr336Ile, NP_001191196.1:p.Thr285Ile

Select item 14873333952.

rs1487333395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:46928556 (GRCh38)
4:46930573 (GRCh37)
Canonical SPDI:: NC_000004.12:46928555:A:G
Gene:: GABRA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.46928556A>G, NC_000004.11:g.46930573A>G, NG_011809.1:g.70008T>C, NM_000809.4:c.1334T>C, NM_000809.3:c.1334T>C, NM_001204266.2:c.1277T>C, NM_001204266.1:c.1277T>C, NM_001204267.2:c.1124T>C, NM_001204267.1:c.1124T>C, NP_000800.2:p.Ile445Thr, NP_001191195.1:p.Ile426Thr, NP_001191196.1:p.Ile375Thr

Select item 14853597933.

rs1485359793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:46965156 (GRCh38)
4:46967173 (GRCh37)
Canonical SPDI:: NC_000004.12:46965155:A:G
Gene:: GABRA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.46965156A>G, NC_000004.11:g.46967173A>G, NG_011809.1:g.33408T>C, NM_000809.4:c.948T>C, NM_000809.3:c.948T>C, NM_001204266.2:c.891T>C, NM_001204266.1:c.891T>C, NM_001204267.2:c.738T>C, NM_001204267.1:c.738T>C

Select item 14795669644.

rs1479566964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:46971125 (GRCh38)
4:46973142 (GRCh37)
Canonical SPDI:: NC_000004.12:46971124:A:G
Gene:: GABRA4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.46971125A>G, NC_000004.11:g.46973142A>G, NG_011809.1:g.27439T>C, NM_000809.4:c.832T>C, NM_000809.3:c.832T>C, NM_001204266.2:c.775T>C, NM_001204266.1:c.775T>C, NP_000800.2:p.Phe278Leu, NP_001191195.1:p.Phe259Leu

Select item 14763024315.

rs1476302431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:46993377 (GRCh38)
4:46995394 (GRCh37)
Canonical SPDI:: NC_000004.12:46993376:G:A
Gene:: GABRA4 (Varview), GABRB1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.46993377G>A, NC_000004.11:g.46995394G>A, NG_051831.2:g.4732G>A, NG_011809.1:g.5187C>T, NM_000809.4:c.48C>T, NM_000809.3:c.48C>T