SNP Links for Protein (Select 194097327) - SNP

Links from Protein

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Select item 14907645631.

rs1490764563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:47406893 (GRCh38)
4:47408910 (GRCh37)
Canonical SPDI:: NC_000004.12:47406892:T:G
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47406893T>G, NC_000004.11:g.47408910T>G, NG_051831.2:g.418248T>G, NG_051831.1:g.380616T>G, NM_000812.4:c.1047T>G, NM_000812.3:c.1047T>G, XM_024453977.2:c.948T>G, XM_024453977.1:c.948T>G, XM_024453976.2:c.948T>G, XM_024453976.1:c.948T>G, XM_017007985.2:c.396T>G, XM_017007985.1:c.396T>G, NP_000803.2:p.Asn349Lys, XP_024309745.1:p.Asn316Lys, XP_024309744.1:p.Asn316Lys, XP_016863474.1:p.Asn132Lys

Select item 14906014062.

rs1490601406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:47403570 (GRCh38)
4:47405587 (GRCh37)
Canonical SPDI:: NC_000004.12:47403569:C:A,NC_000004.12:47403569:C:T
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.47403570C>A, NC_000004.12:g.47403570C>T, NC_000004.11:g.47405587C>A, NC_000004.11:g.47405587C>T, NG_051831.2:g.414925C>A, NG_051831.2:g.414925C>T, NG_051831.1:g.377293C>A, NG_051831.1:g.377293C>T, NM_000812.4:c.694C>A, NM_000812.4:c.694C>T, NM_000812.3:c.694C>A, NM_000812.3:c.694C>T, XM_024453977.2:c.595C>A, XM_024453977.2:c.595C>T, XM_024453977.1:c.595C>A, XM_024453977.1:c.595C>T, XM_024453976.2:c.595C>A, XM_024453976.2:c.595C>T, XM_024453976.1:c.595C>A, XM_024453976.1:c.595C>T, XM_017007985.2:c.43C>A, XM_017007985.2:c.43C>T, XM_017007985.1:c.43C>A, XM_017007985.1:c.43C>T, NP_000803.2:p.Arg232Ter, XP_024309745.1:p.Arg199Ter, XP_024309744.1:p.Arg199Ter, XP_016863474.1:p.Arg15Ter

Select item 14905477633.

rs1490547763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:47403362 (GRCh38)
4:47405379 (GRCh37)
Canonical SPDI:: NC_000004.12:47403361:G:C
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,5_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)
HGVS:: NC_000004.12:g.47403362G>C, NC_000004.11:g.47405379G>C, NG_051831.2:g.414717G>C, NG_051831.1:g.377085G>C, NM_000812.4:c.589G>C, NM_000812.3:c.589G>C, XM_024453977.2:c.490G>C, XM_024453977.1:c.490G>C, XM_024453976.2:c.490G>C, XM_024453976.1:c.490G>C, XM_017007985.2:c.-63G>C, XM_017007985.1:c.-63G>C, NP_000803.2:p.Glu197Gln, XP_024309745.1:p.Glu164Gln, XP_024309744.1:p.Glu164Gln

Select item 14883249154.

rs1488324915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:47032001 (GRCh38)
4:47034018 (GRCh37)
Canonical SPDI:: NC_000004.12:47032000:C:T
Gene:: GABRB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.47032001C>T, NC_000004.11:g.47034018C>T, NG_051831.2:g.43356C>T, NG_051831.1:g.5724C>T, NM_000812.4:c.168C>T, NM_000812.3:c.168C>T, XM_017007986.3:c.168C>T, XM_017007986.2:c.168C>T, XM_017007986.1:c.168C>T, XM_024453977.2:c.69C>T, XM_024453977.1:c.69C>T, XM_024453976.2:c.69C>T, XM_024453976.1:c.69C>T

Select item 14875342585.

rs1487534258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:47031986 (GRCh38)
4:47034003 (GRCh37)
Canonical SPDI:: NC_000004.12:47031985:C:T
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47031986C>T, NC_000004.11:g.47034003C>T, NG_051831.2:g.43341C>T, NG_051831.1:g.5709C>T, NM_000812.4:c.153C>T, NM_000812.3:c.153C>T, XM_017007986.3:c.153C>T, XM_017007986.2:c.153C>T, XM_017007986.1:c.153C>T, XM_024453977.2:c.54C>T, XM_024453977.1:c.54C>T, XM_024453976.2:c.54C>T, XM_024453976.1:c.54C>T

Select item 14865281486.

rs1486528148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:47425881 (GRCh38)
4:47427898 (GRCh37)
Canonical SPDI:: NC_000004.12:47425880:C:A,NC_000004.12:47425880:C:G
Gene:: GABRB1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.47425881C>A, NC_000004.12:g.47425881C>G, NC_000004.11:g.47427898C>A, NC_000004.11:g.47427898C>G, NG_051831.2:g.437236C>A, NG_051831.2:g.437236C>G, NG_051831.1:g.399604C>A, NG_051831.1:g.399604C>G, NM_000812.4:c.1288C>A, NM_000812.4:c.1288C>G, NM_000812.3:c.1288C>A, NM_000812.3:c.1288C>G, XM_024453977.2:c.1189C>A, XM_024453977.2:c.1189C>G, XM_024453977.1:c.1189C>A, XM_024453977.1:c.1189C>G, XM_024453976.2:c.1189C>A, XM_024453976.2:c.1189C>G, XM_024453976.1:c.1189C>A, XM_024453976.1:c.1189C>G, XM_017007985.2:c.637C>A, XM_017007985.2:c.637C>G, XM_017007985.1:c.637C>A, XM_017007985.1:c.637C>G, NP_000803.2:p.Arg430Ser, NP_000803.2:p.Arg430Gly, XP_024309745.1:p.Arg397Ser, XP_024309745.1:p.Arg397Gly, XP_024309744.1:p.Arg397Ser, XP_024309744.1:p.Arg397Gly, XP_016863474.1:p.Arg213Ser, XP_016863474.1:p.Arg213Gly

Select item 14854133547.

rs1485413354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:47161460 (GRCh38)
4:47163477 (GRCh37)
Canonical SPDI:: NC_000004.12:47161459:A:G
Gene:: GABRB1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.47161460A>G, NC_000004.11:g.47163477A>G, NG_051831.2:g.172815A>G, NG_051831.1:g.135183A>G, NM_000812.4:c.452A>G, NM_000812.3:c.452A>G, XM_017007986.3:c.452A>G, XM_017007986.2:c.452A>G, XM_017007986.1:c.452A>G, XM_024453977.2:c.353A>G, XM_024453977.1:c.353A>G, XM_024453976.2:c.353A>G, XM_024453976.1:c.353A>G, NP_000803.2:p.Tyr151Cys, XP_016863475.1:p.Tyr151Cys, XP_024309745.1:p.Tyr118Cys, XP_024309744.1:p.Tyr118Cys

Select item 14840629508.

rs1484062950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:47032479 (GRCh38)
4:47034496 (GRCh37)
Canonical SPDI:: NC_000004.12:47032478:A:C
Gene:: GABRB1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.47032479A>C, NC_000004.11:g.47034496A>C, NG_051831.2:g.43834A>C, NG_051831.1:g.6202A>C, NM_000812.4:c.235A>C, NM_000812.3:c.235A>C, XM_017007986.3:c.235A>C, XM_017007986.2:c.235A>C, XM_017007986.1:c.235A>C, XM_024453977.2:c.136A>C, XM_024453977.1:c.136A>C, XM_024453976.2:c.136A>C, XM_024453976.1:c.136A>C, NP_000803.2:p.Asn79His, XP_016863475.1:p.Asn79His, XP_024309745.1:p.Asn46His, XP_024309744.1:p.Asn46His

Select item 14802721969.

rs1480272196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:47406908 (GRCh38)
4:47408925 (GRCh37)
Canonical SPDI:: NC_000004.12:47406907:G:A
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47406908G>A, NC_000004.11:g.47408925G>A, NG_051831.2:g.418263G>A, NG_051831.1:g.380631G>A, NM_000812.4:c.1062G>A, NM_000812.3:c.1062G>A, XM_024453977.2:c.963G>A, XM_024453977.1:c.963G>A, XM_024453976.2:c.963G>A, XM_024453976.1:c.963G>A, XM_017007985.2:c.411G>A, XM_017007985.1:c.411G>A

Select item 147644836810.

rs1476448368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:47031658 (GRCh38)
4:47033675 (GRCh37)
Canonical SPDI:: NC_000004.12:47031657:A:G,NC_000004.12:47031657:A:T
Gene:: GABRB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.47031658A>G, NC_000004.12:g.47031658A>T, NC_000004.11:g.47033675A>G, NC_000004.11:g.47033675A>T, NG_051831.2:g.43013A>G, NG_051831.2:g.43013A>T, NG_051831.1:g.5381A>G, NG_051831.1:g.5381A>T, NM_000812.4:c.7A>G, NM_000812.4:c.7A>T, NM_000812.3:c.7A>G, NM_000812.3:c.7A>T, XM_017007986.3:c.7A>G, XM_017007986.3:c.7A>T, XM_017007986.2:c.7A>G, XM_017007986.2:c.7A>T, XM_017007986.1:c.7A>G, XM_017007986.1:c.7A>T, NP_000803.2:p.Thr3Ala, NP_000803.2:p.Thr3Ser, XP_016863475.1:p.Thr3Ala, XP_016863475.1:p.Thr3Ser

Select item 147601006111.

rs1476010061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:47406916 (GRCh38)
4:47408933 (GRCh37)
Canonical SPDI:: NC_000004.12:47406915:A:G
Gene:: GABRB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000004.12:g.47406916A>G, NC_000004.11:g.47408933A>G, NG_051831.2:g.418271A>G, NG_051831.1:g.380639A>G, NM_000812.4:c.1070A>G, NM_000812.3:c.1070A>G, XM_024453977.2:c.971A>G, XM_024453977.1:c.971A>G, XM_024453976.2:c.971A>G, XM_024453976.1:c.971A>G, XM_017007985.2:c.419A>G, XM_017007985.1:c.419A>G, NP_000803.2:p.Asn357Ser, XP_024309745.1:p.Asn324Ser, XP_024309744.1:p.Asn324Ser, XP_016863474.1:p.Asn140Ser

Select item 146981588412.

rs1469815884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:47425779 (GRCh38)
4:47427796 (GRCh37)
Canonical SPDI:: NC_000004.12:47425778:T:C
Gene:: GABRB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47425779T>C, NC_000004.11:g.47427796T>C, NG_051831.2:g.437134T>C, NG_051831.1:g.399502T>C, NM_000812.4:c.1186T>C, NM_000812.3:c.1186T>C, XM_024453977.2:c.1087T>C, XM_024453977.1:c.1087T>C, XM_024453976.2:c.1087T>C, XM_024453976.1:c.1087T>C, XM_017007985.2:c.535T>C, XM_017007985.1:c.535T>C, NP_000803.2:p.Ser396Pro, XP_024309745.1:p.Ser363Pro, XP_024309744.1:p.Ser363Pro, XP_016863474.1:p.Ser179Pro

Select item 146346645613.

rs1463466456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:47425972 (GRCh38)
4:47427989 (GRCh37)
Canonical SPDI:: NC_000004.12:47425971:C:T
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_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=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.47425972C>T, NC_000004.11:g.47427989C>T, NG_051831.2:g.437327C>T, NG_051831.1:g.399695C>T, NM_000812.4:c.1379C>T, NM_000812.3:c.1379C>T, XM_024453977.2:c.1280C>T, XM_024453977.1:c.1280C>T, XM_024453976.2:c.1280C>T, XM_024453976.1:c.1280C>T, XM_017007985.2:c.728C>T, XM_017007985.1:c.728C>T, NP_000803.2:p.Thr460Ile, XP_024309745.1:p.Thr427Ile, XP_024309744.1:p.Thr427Ile, XP_016863474.1:p.Thr243Ile

Select item 145794645614.

rs1457946456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:47032419 (GRCh38)
4:47034436 (GRCh37)
Canonical SPDI:: NC_000004.12:47032418:C:T
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.47032419C>T, NC_000004.11:g.47034436C>T, NG_051831.2:g.43774C>T, NG_051831.1:g.6142C>T, NM_000812.4:c.175C>T, NM_000812.3:c.175C>T, XM_017007986.3:c.175C>T, XM_017007986.2:c.175C>T, XM_017007986.1:c.175C>T, XM_024453977.2:c.76C>T, XM_024453977.1:c.76C>T, XM_024453976.2:c.76C>T, XM_024453976.1:c.76C>T, NP_000803.2:p.Pro59Ser, XP_016863475.1:p.Pro59Ser, XP_024309745.1:p.Pro26Ser, XP_024309744.1:p.Pro26Ser

Select item 145744334815.

rs1457443348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:47161319 (GRCh38)
4:47163336 (GRCh37)
Canonical SPDI:: NC_000004.12:47161318:T:G
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.47161319T>G, NC_000004.11:g.47163336T>G, NG_051831.2:g.172674T>G, NG_051831.1:g.135042T>G, NM_000812.4:c.311T>G, NM_000812.3:c.311T>G, XM_017007986.3:c.311T>G, XM_017007986.2:c.311T>G, XM_017007986.1:c.311T>G, XM_024453977.2:c.212T>G, XM_024453977.1:c.212T>G, XM_024453976.2:c.212T>G, XM_024453976.1:c.212T>G, NP_000803.2:p.Leu104Arg, XP_016863475.1:p.Leu104Arg, XP_024309745.1:p.Leu71Arg, XP_024309744.1:p.Leu71Arg

Select item 145277642616.

rs1452776426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:47425710 (GRCh38)
4:47427727 (GRCh37)
Canonical SPDI:: NC_000004.12:47425709:G:A,NC_000004.12:47425709:G:C
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.47425710G>A, NC_000004.12:g.47425710G>C, NC_000004.11:g.47427727G>A, NC_000004.11:g.47427727G>C, NG_051831.2:g.437065G>A, NG_051831.2:g.437065G>C, NG_051831.1:g.399433G>A, NG_051831.1:g.399433G>C, NM_000812.4:c.1117G>A, NM_000812.4:c.1117G>C, NM_000812.3:c.1117G>A, NM_000812.3:c.1117G>C, XM_024453977.2:c.1018G>A, XM_024453977.2:c.1018G>C, XM_024453977.1:c.1018G>A, XM_024453977.1:c.1018G>C, XM_024453976.2:c.1018G>A, XM_024453976.2:c.1018G>C, XM_024453976.1:c.1018G>A, XM_024453976.1:c.1018G>C, XM_017007985.2:c.466G>A, XM_017007985.2:c.466G>C, XM_017007985.1:c.466G>A, XM_017007985.1:c.466G>C, NP_000803.2:p.Glu373Lys, NP_000803.2:p.Glu373Gln, XP_024309745.1:p.Glu340Lys, XP_024309745.1:p.Glu340Gln, XP_024309744.1:p.Glu340Lys, XP_024309744.1:p.Glu340Gln, XP_016863474.1:p.Glu156Lys, XP_016863474.1:p.Glu156Gln

Select item 145267890517.

rs1452678905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:47425700 (GRCh38)
4:47427717 (GRCh37)
Canonical SPDI:: NC_000004.12:47425699:C:T
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.47425700C>T, NC_000004.11:g.47427717C>T, NG_051831.2:g.437055C>T, NG_051831.1:g.399423C>T, NM_000812.4:c.1107C>T, NM_000812.3:c.1107C>T, XM_024453977.2:c.1008C>T, XM_024453977.1:c.1008C>T, XM_024453976.2:c.1008C>T, XM_024453976.1:c.1008C>T, XM_017007985.2:c.456C>T, XM_017007985.1:c.456C>T

Select item 145192740218.

rs1451927402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:47161390 (GRCh38)
4:47163407 (GRCh37)
Canonical SPDI:: NC_000004.12:47161389:A:C
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47161390A>C, NC_000004.11:g.47163407A>C, NG_051831.2:g.172745A>C, NG_051831.1:g.135113A>C, NM_000812.4:c.382A>C, NM_000812.3:c.382A>C, XM_017007986.3:c.382A>C, XM_017007986.2:c.382A>C, XM_017007986.1:c.382A>C, XM_024453977.2:c.283A>C, XM_024453977.1:c.283A>C, XM_024453976.2:c.283A>C, XM_024453976.1:c.283A>C, NP_000803.2:p.Lys128Gln, XP_016863475.1:p.Lys128Gln, XP_024309745.1:p.Lys95Gln, XP_024309744.1:p.Lys95Gln

Select item 144839130719.

rs1448391307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:47403418 (GRCh38)
4:47405435 (GRCh37)
Canonical SPDI:: NC_000004.12:47403417:C:T
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47403418C>T, NC_000004.11:g.47405435C>T, NG_051831.2:g.414773C>T, NG_051831.1:g.377141C>T, NM_000812.4:c.645C>T, NM_000812.3:c.645C>T, XM_024453977.2:c.546C>T, XM_024453977.1:c.546C>T, XM_024453976.2:c.546C>T, XM_024453976.1:c.546C>T, XM_017007985.2:c.-7C>T, XM_017007985.1:c.-7C>T

Select item 144834622520.

rs1448346225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:47403705 (GRCh38)
4:47405722 (GRCh37)
Canonical SPDI:: NC_000004.12:47403704:G:A
Gene:: GABRB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.47403705G>A, NC_000004.11:g.47405722G>A, NG_051831.2:g.415060G>A, NG_051831.1:g.377428G>A, NM_000812.4:c.829G>A, NM_000812.3:c.829G>A, XM_024453977.2:c.730G>A, XM_024453977.1:c.730G>A, XM_024453976.2:c.730G>A, XM_024453976.1:c.730G>A, XM_017007985.2:c.178G>A, XM_017007985.1:c.178G>A, NP_000803.2:p.Ala277Thr, XP_024309745.1:p.Ala244Thr, XP_024309744.1:p.Ala244Thr, XP_016863474.1:p.Ala60Thr

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