SNP Links for Protein (Select 83977444) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:55027757 (GRCh38)
X:55054190 (GRCh37)
Canonical SPDI:: NC_000023.11:55027756:A:G
Gene:: ALAS2 (Varview), PAGE2B (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.55027757A>G, NC_000023.10:g.55054190A>G, NG_008983.1:g.8308T>C, NM_001037968.4:c.51T>C, NM_001037968.3:c.51T>C, NG_051542.1:g.4101A>G

Select item 14686841558.

rs1468684155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:55013553 (GRCh38)
X:55039986 (GRCh37)
Canonical SPDI:: NC_000023.11:55013552:C:G
Gene:: ALAS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.55013553C>G, NC_000023.10:g.55039986C>G, NG_008983.1:g.22512G>C, NM_000032.5:c.1533G>C, NM_000032.4:c.1533G>C, NM_001037968.4:c.1494G>C, NM_001037968.3:c.1494G>C, NM_001037967.4:c.1422G>C, NM_001037967.3:c.1422G>C, NM_001037969.2:c.1413G>C, NM_001037969.1:c.1317G>C

Select item 14655983379.

rs1465598337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:55014951 (GRCh38)
X:55041384 (GRCh37)
Canonical SPDI:: NC_000023.11:55014950:G:C
Gene:: ALAS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000057/6 (GnomAD)
HGVS:: NC_000023.11:g.55014951G>C, NC_000023.10:g.55041384G>C, NG_008983.1:g.21114C>G, NM_000032.5:c.1233C>G, NM_000032.4:c.1233C>G, NM_001037968.4:c.1194C>G, NM_001037968.3:c.1194C>G, NM_001037967.4:c.1122C>G, NM_001037967.3:c.1122C>G, NG_051370.1:g.36G>C, NM_001037969.2:c.1113C>G, NM_001037969.1:c.1017C>G

Select item 145093720510.

rs1450937205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:55025926 (GRCh38)
X:55052359 (GRCh37)
Canonical SPDI:: NC_000023.11:55025925:C:T
Gene:: ALAS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.55025926C>T, NC_000023.10:g.55052359C>T, NG_008983.1:g.10139G>A, NM_000032.5:c.75G>A, NM_000032.4:c.75G>A, NM_001037968.4:c.147G>A, NM_001037968.3:c.147G>A, NM_001037967.4:c.75G>A, NM_001037967.3:c.75G>A, NG_051542.1:g.2270C>T

Select item 144983557411.

rs1449835574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:55021145 (GRCh38)
X:55047578 (GRCh37)
Canonical SPDI:: NC_000023.11:55021144:G:A
Gene:: ALAS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.55021145G>A, NC_000023.10:g.55047578G>A, NG_008983.1:g.14920C>T, NM_000032.5:c.545C>T, NM_000032.4:c.545C>T, NM_001037968.4:c.506C>T, NM_001037968.3:c.506C>T, NM_001037967.4:c.434C>T, NM_001037967.3:c.434C>T, NM_001037969.2:c.425C>T, NM_001037969.1:c.329C>T, NP_000023.2:p.Ser182Phe, NP_001033057.1:p.Ser169Phe, NP_001033056.1:p.Ser145Phe

Select item 144679978212.

rs1446799782 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:55014825 (GRCh38)
X:55041258 (GRCh37)
Canonical SPDI:: NC_000023.11:55014824:A:G
Gene:: ALAS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.55014825A>G, NC_000023.10:g.55041258A>G, NG_008983.1:g.21240T>C, NM_000032.5:c.1359T>C, NM_000032.4:c.1359T>C, NM_001037968.4:c.1320T>C, NM_001037968.3:c.1320T>C, NM_001037967.4:c.1248T>C, NM_001037967.3:c.1248T>C, NM_001037969.2:c.1239T>C, NM_001037969.1:c.1143T>C

Select item 144668442713.

rs1446684427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:55014753 (GRCh38)
X:55041186 (GRCh37)
Canonical SPDI:: NC_000023.11:55014752:G:A,NC_000023.11:55014752:G:T
Gene:: ALAS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.55014753G>A, NC_000023.11:g.55014753G>T, NC_000023.10:g.55041186G>A, NC_000023.10:g.55041186G>T, NG_008983.1:g.21312C>T, NG_008983.1:g.21312C>A, NM_000032.5:c.1431C>T, NM_000032.5:c.1431C>A, NM_000032.4:c.1431C>T, NM_000032.4:c.1431C>A, NM_001037968.4:c.1392C>T, NM_001037968.4:c.1392C>A, NM_001037968.3:c.1392C>T, NM_001037968.3:c.1392C>A, NM_001037967.4:c.1320C>T, NM_001037967.4:c.1320C>A, NM_001037967.3:c.1320C>T, NM_001037967.3:c.1320C>A, NM_001037969.2:c.1311C>T, NM_001037969.2:c.1311C>A, NM_001037969.1:c.1215C>T, NM_001037969.1:c.1215C>A

Select item 144244259414.

rs1442442594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:55009303 (GRCh38)
X:55035736 (GRCh37)
Canonical SPDI:: NC_000023.11:55009302:G:A
Gene:: ALAS2 (Varview), APEX2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.55009303G>A, NC_000023.10:g.55035736G>A, NG_008983.1:g.26762C>T, NM_000032.5:c.1641C>T, NM_000032.4:c.1641C>T, NM_001037968.4:c.1602C>T, NM_001037968.3:c.1602C>T, NM_001037967.4:c.1530C>T, NM_001037967.3:c.1530C>T, NG_012568.1:g.13957G>A, NM_001037969.2:c.1521C>T, NM_001037969.1:c.1425C>T

Select item 144195883115.

rs1441958831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:55025859 (GRCh38)
X:55052292 (GRCh37)
Canonical SPDI:: NC_000023.11:55025858:A:G,NC_000023.11:55025858:A:T
Gene:: ALAS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.55025859A>G, NC_000023.11:g.55025859A>T, NC_000023.10:g.55052292A>G, NC_000023.10:g.55052292A>T, NG_008983.1:g.10206T>C, NG_008983.1:g.10206T>A, NM_000032.5:c.142T>C, NM_000032.5:c.142T>A, NM_000032.4:c.142T>C, NM_000032.4:c.142T>A, NM_001037968.4:c.214T>C, NM_001037968.4:c.214T>A, NM_001037968.3:c.214T>C, NM_001037968.3:c.214T>A, NM_001037967.4:c.142T>C, NM_001037967.4:c.142T>A, NM_001037967.3:c.142T>C, NM_001037967.3:c.142T>A, NG_051542.1:g.2203A>G, NG_051542.1:g.2203A>T, NP_000023.2:p.Cys48Arg, NP_000023.2:p.Cys48Ser, NP_001033057.1:p.Cys72Arg, NP_001033057.1:p.Cys72Ser, NP_001033056.1:p.Cys48Arg, NP_001033056.1:p.Cys48Ser

Select item 144018656316.

rs1440186563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:55009204 (GRCh38)
X:55035637 (GRCh37)
Canonical SPDI:: NC_000023.11:55009203:G:T
Gene:: ALAS2 (Varview), APEX2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.55009204G>T, NC_000023.10:g.55035637G>T, NG_008983.1:g.26861C>A, NM_000032.5:c.1740C>A, NM_000032.4:c.1740C>A, NM_001037968.4:c.1701C>A, NM_001037968.3:c.1701C>A, NM_001037967.4:c.1629C>A, NM_001037967.3:c.1629C>A, NG_012568.1:g.13858G>T, NM_001037969.2:c.1620C>A, NM_001037969.1:c.1524C>A

Select item 143041410017.

rs1430414100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:55021203 (GRCh38)
X:55047636 (GRCh37)
Canonical SPDI:: NC_000023.11:55021202:G:A
Gene:: ALAS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.55021203G>A, NC_000023.10:g.55047636G>A, NG_008983.1:g.14862C>T, NM_000032.5:c.487C>T, NM_000032.4:c.487C>T, NM_001037968.4:c.448C>T, NM_001037968.3:c.448C>T, NM_001037967.4:c.376C>T, NM_001037967.3:c.376C>T, NM_001037969.2:c.367C>T, NM_001037969.1:c.271C>T, NP_000023.2:p.Arg163Cys, NP_001033057.1:p.Arg150Cys, NP_001033056.1:p.Arg126Cys

Select item 143008880118.

rs1430088801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:55027759 (GRCh38)
X:55054192 (GRCh37)
Canonical SPDI:: NC_000023.11:55027758:A:G
Gene:: ALAS2 (Varview), PAGE2B (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.55027759A>G, NC_000023.10:g.55054192A>G, NG_008983.1:g.8306T>C, NM_001037968.4:c.49T>C, NM_001037968.3:c.49T>C, NG_051542.1:g.4103A>G, NP_001033057.1:p.Phe17Leu

Select item 142655490919.

rs1426554909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:55014858 (GRCh38)
X:55041291 (GRCh37)
Canonical SPDI:: NC_000023.11:55014857:C:G
Gene:: ALAS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.55014858C>G, NC_000023.10:g.55041291C>G, NG_008983.1:g.21207G>C, NM_000032.5:c.1326G>C, NM_000032.4:c.1326G>C, NM_001037968.4:c.1287G>C, NM_001037968.3:c.1287G>C, NM_001037967.4:c.1215G>C, NM_001037967.3:c.1215G>C, NM_001037969.2:c.1206G>C, NM_001037969.1:c.1110G>C, NP_000023.2:p.Glu442Asp, NP_001033057.1:p.Glu429Asp, NP_001033056.1:p.Glu405Asp

Select item 142376941920.

rs1423769419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:55025951 (GRCh38)
X:55052384 (GRCh37)
Canonical SPDI:: NC_000023.11:55025950:C:T
Gene:: ALAS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.55025951C>T, NC_000023.10:g.55052384C>T, NG_008983.1:g.10114G>A, NM_000032.5:c.50G>A, NM_000032.4:c.50G>A, NM_001037968.4:c.122G>A, NM_001037968.3:c.122G>A, NM_001037967.4:c.50G>A, NM_001037967.3:c.50G>A, NG_051542.1:g.2295C>T, NP_000023.2:p.Gly17Asp, NP_001033057.1:p.Gly41Asp, NP_001033056.1:p.Gly17Asp

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