SNP Links for Protein (Select 19387846) - SNP

Links from Protein

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Select item 14876231041.

rs1487623104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54809741 (GRCh38)
X:54836174 (GRCh37)
Canonical SPDI:: NC_000023.11:54809740:A:G
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.54809741A>G, NC_000023.10:g.54836174A>G, NG_012844.1:g.7004A>G, NM_014599.6:c.65A>G, NM_014599.5:c.65A>G, NM_014599.4:c.65A>G, NM_201222.3:c.65A>G, NM_201222.2:c.65A>G, NM_201222.1:c.65A>G, NM_177433.3:c.65A>G, NM_177433.2:c.65A>G, NM_177433.1:c.65A>G, NM_006787.1:c.65A>G, NP_055414.2:p.Asp22Gly, NP_957516.1:p.Asp22Gly, NP_803182.1:p.Asp22Gly

Select item 14867432152.

rs1486743215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54809917 (GRCh38)
X:54836350 (GRCh37)
Canonical SPDI:: NC_000023.11:54809916:A:G
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54809917A>G, NC_000023.10:g.54836350A>G, NG_012844.1:g.7180A>G, NM_014599.6:c.241A>G, NM_014599.5:c.241A>G, NM_014599.4:c.241A>G, NM_201222.3:c.241A>G, NM_201222.2:c.241A>G, NM_201222.1:c.241A>G, NM_177433.3:c.241A>G, NM_177433.2:c.241A>G, NM_177433.1:c.241A>G, NM_006787.1:c.241A>G, NP_055414.2:p.Thr81Ala, NP_957516.1:p.Thr81Ala, NP_803182.1:p.Thr81Ala

Select item 14762246193.

rs1476224619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:54809838 (GRCh38)
X:54836271 (GRCh37)
Canonical SPDI:: NC_000023.11:54809837:T:C
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54809838T>C, NC_000023.10:g.54836271T>C, NG_012844.1:g.7101T>C, NM_014599.6:c.162T>C, NM_014599.5:c.162T>C, NM_014599.4:c.162T>C, NM_201222.3:c.162T>C, NM_201222.2:c.162T>C, NM_201222.1:c.162T>C, NM_177433.3:c.162T>C, NM_177433.2:c.162T>C, NM_177433.1:c.162T>C, NM_006787.1:c.162T>C

Select item 14751578754.

rs1475157875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54815623 (GRCh38)
X:54842056 (GRCh37)
Canonical SPDI:: NC_000023.11:54815622:G:A
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54815623G>A, NC_000023.10:g.54842056G>A, NG_012844.1:g.12886G>A, NM_014599.6:c.1762G>A, NM_014599.5:c.1762G>A, NM_014599.4:c.1762G>A, NM_201222.3:c.1762G>A, NM_201222.2:c.1762G>A, NM_201222.1:c.1762G>A, NM_177433.3:c.1762G>A, NM_177433.2:c.1762G>A, NM_177433.1:c.1762G>A, NM_006787.1:c.1762G>A, NP_055414.2:p.Gly588Ser, NP_957516.1:p.Gly588Ser, NP_803182.1:p.Gly588Ser

Select item 14715408905.

rs1471540890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:54809856 (GRCh38)
X:54836289 (GRCh37)
Canonical SPDI:: NC_000023.11:54809855:C:T
Gene:: MAGED2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.54809856C>T, NC_000023.10:g.54836289C>T, NG_012844.1:g.7119C>T, NM_014599.6:c.180C>T, NM_014599.5:c.180C>T, NM_014599.4:c.180C>T, NM_201222.3:c.180C>T, NM_201222.2:c.180C>T, NM_201222.1:c.180C>T, NM_177433.3:c.180C>T, NM_177433.2:c.180C>T, NM_177433.1:c.180C>T, NM_006787.1:c.180C>T

Select item 14714413616.

rs1471441361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54810981 (GRCh38)
X:54837414 (GRCh37)
Canonical SPDI:: NC_000023.11:54810980:G:A
Gene:: MAGED2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.54810981G>A, NC_000023.10:g.54837414G>A, NG_012844.1:g.8244G>A, NM_014599.6:c.698G>A, NM_014599.5:c.698G>A, NM_014599.4:c.698G>A, NM_201222.3:c.698G>A, NM_201222.2:c.698G>A, NM_201222.1:c.698G>A, NM_177433.3:c.698G>A, NM_177433.2:c.698G>A, NM_177433.1:c.698G>A, NM_006787.1:c.698G>A, NP_055414.2:p.Arg233Gln, NP_957516.1:p.Arg233Gln, NP_803182.1:p.Arg233Gln

Select item 14634394987.

rs1463439498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54815317 (GRCh38)
X:54841750 (GRCh37)
Canonical SPDI:: NC_000023.11:54815316:G:A
Gene:: MAGED2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.54815317G>A, NC_000023.10:g.54841750G>A, NG_012844.1:g.12580G>A, NM_014599.6:c.1456G>A, NM_014599.5:c.1456G>A, NM_014599.4:c.1456G>A, NM_201222.3:c.1456G>A, NM_201222.2:c.1456G>A, NM_201222.1:c.1456G>A, NM_177433.3:c.1456G>A, NM_177433.2:c.1456G>A, NM_177433.1:c.1456G>A, NM_006787.1:c.1456G>A, NP_055414.2:p.Ala486Thr, NP_957516.1:p.Ala486Thr, NP_803182.1:p.Ala486Thr

Select item 14608987848.

rs1460898784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:54815464 (GRCh38)
X:54841897 (GRCh37)
Canonical SPDI:: NC_000023.11:54815463:G:A,NC_000023.11:54815463:G:C,NC_000023.11:54815463:G:T
Gene:: MAGED2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54815464G>A, NC_000023.11:g.54815464G>C, NC_000023.11:g.54815464G>T, NC_000023.10:g.54841897G>A, NC_000023.10:g.54841897G>C, NC_000023.10:g.54841897G>T, NG_012844.1:g.12727G>A, NG_012844.1:g.12727G>C, NG_012844.1:g.12727G>T, NM_014599.6:c.1603G>A, NM_014599.6:c.1603G>C, NM_014599.6:c.1603G>T, NM_014599.5:c.1603G>A, NM_014599.5:c.1603G>C, NM_014599.5:c.1603G>T, NM_014599.4:c.1603G>A, NM_014599.4:c.1603G>C, NM_014599.4:c.1603G>T, NM_201222.3:c.1603G>A, NM_201222.3:c.1603G>C, NM_201222.3:c.1603G>T, NM_201222.2:c.1603G>A, NM_201222.2:c.1603G>C, NM_201222.2:c.1603G>T, NM_201222.1:c.1603G>A, NM_201222.1:c.1603G>C, NM_201222.1:c.1603G>T, NM_177433.3:c.1603G>A, NM_177433.3:c.1603G>C, NM_177433.3:c.1603G>T, NM_177433.2:c.1603G>A, NM_177433.2:c.1603G>C, NM_177433.2:c.1603G>T, NM_177433.1:c.1603G>A, NM_177433.1:c.1603G>C, NM_177433.1:c.1603G>T, NM_006787.1:c.1603G>A, NM_006787.1:c.1603G>C, NM_006787.1:c.1603G>T, NP_055414.2:p.Ala535Thr, NP_055414.2:p.Ala535Pro, NP_055414.2:p.Ala535Ser, NP_957516.1:p.Ala535Thr, NP_957516.1:p.Ala535Pro, NP_957516.1:p.Ala535Ser, NP_803182.1:p.Ala535Thr, NP_803182.1:p.Ala535Pro, NP_803182.1:p.Ala535Ser

Select item 14578781079.

rs1457878107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:54810082 (GRCh38)
X:54836515 (GRCh37)
Canonical SPDI:: NC_000023.11:54810081:A:G
Gene:: MAGED2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54810082A>G, NC_000023.10:g.54836515A>G, NG_012844.1:g.7345A>G, NM_014599.6:c.406A>G, NM_014599.5:c.406A>G, NM_014599.4:c.406A>G, NM_201222.3:c.406A>G, NM_201222.2:c.406A>G, NM_201222.1:c.406A>G, NM_177433.3:c.406A>G, NM_177433.2:c.406A>G, NM_177433.1:c.406A>G, NM_006787.1:c.406A>G, NP_055414.2:p.Thr136Ala, NP_957516.1:p.Thr136Ala, NP_803182.1:p.Thr136Ala

Select item 145451639510.

rs1454516395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:54810066 (GRCh38)
X:54836499 (GRCh37)
Canonical SPDI:: NC_000023.11:54810065:T:C
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54810066T>C, NC_000023.10:g.54836499T>C, NG_012844.1:g.7329T>C, NM_014599.6:c.390T>C, NM_014599.5:c.390T>C, NM_014599.4:c.390T>C, NM_201222.3:c.390T>C, NM_201222.2:c.390T>C, NM_201222.1:c.390T>C, NM_177433.3:c.390T>C, NM_177433.2:c.390T>C, NM_177433.1:c.390T>C, NM_006787.1:c.390T>C

Select item 145345717311.

rs1453457173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54815431 (GRCh38)
X:54841864 (GRCh37)
Canonical SPDI:: NC_000023.11:54815430:G:A
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54815431G>A, NC_000023.10:g.54841864G>A, NG_012844.1:g.12694G>A, NM_014599.6:c.1570G>A, NM_014599.5:c.1570G>A, NM_014599.4:c.1570G>A, NM_201222.3:c.1570G>A, NM_201222.2:c.1570G>A, NM_201222.1:c.1570G>A, NM_177433.3:c.1570G>A, NM_177433.2:c.1570G>A, NM_177433.1:c.1570G>A, NM_006787.1:c.1570G>A, NP_055414.2:p.Gly524Arg, NP_957516.1:p.Gly524Arg, NP_803182.1:p.Gly524Arg

Select item 144202239712.

rs1442022397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:54810111 (GRCh38)
X:54836544 (GRCh37)
Canonical SPDI:: NC_000023.11:54810110:C:G,NC_000023.11:54810110:C:T
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54810111C>G, NC_000023.11:g.54810111C>T, NC_000023.10:g.54836544C>G, NC_000023.10:g.54836544C>T, NG_012844.1:g.7374C>G, NG_012844.1:g.7374C>T, NM_014599.6:c.435C>G, NM_014599.6:c.435C>T, NM_014599.5:c.435C>G, NM_014599.5:c.435C>T, NM_014599.4:c.435C>G, NM_014599.4:c.435C>T, NM_201222.3:c.435C>G, NM_201222.3:c.435C>T, NM_201222.2:c.435C>G, NM_201222.2:c.435C>T, NM_201222.1:c.435C>G, NM_201222.1:c.435C>T, NM_177433.3:c.435C>G, NM_177433.3:c.435C>T, NM_177433.2:c.435C>G, NM_177433.2:c.435C>T, NM_177433.1:c.435C>G, NM_177433.1:c.435C>T, NM_006787.1:c.435C>G, NM_006787.1:c.435C>T

Select item 144136592713.

rs1441365927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:54813518 (GRCh38)
X:54839951 (GRCh37)
Canonical SPDI:: NC_000023.11:54813517:G:A,NC_000023.11:54813517:G:T
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000011/2 (GnomAD_exomes)
A=0.00006/16 (TOPMED)
A=0.000077/8 (GnomAD)
HGVS:: NC_000023.11:g.54813518G>A, NC_000023.11:g.54813518G>T, NC_000023.10:g.54839951G>A, NC_000023.10:g.54839951G>T, NG_012844.1:g.10781G>A, NG_012844.1:g.10781G>T, NM_014599.6:c.1239G>A, NM_014599.6:c.1239G>T, NM_014599.5:c.1239G>A, NM_014599.5:c.1239G>T, NM_014599.4:c.1239G>A, NM_014599.4:c.1239G>T, NM_201222.3:c.1239G>A, NM_201222.3:c.1239G>T, NM_201222.2:c.1239G>A, NM_201222.2:c.1239G>T, NM_201222.1:c.1239G>A, NM_201222.1:c.1239G>T, NM_177433.3:c.1239G>A, NM_177433.3:c.1239G>T, NM_177433.2:c.1239G>A, NM_177433.2:c.1239G>T, NM_177433.1:c.1239G>A, NM_177433.1:c.1239G>T, NM_006787.1:c.1239G>A, NM_006787.1:c.1239G>T, NP_055414.2:p.Lys413Asn, NP_957516.1:p.Lys413Asn, NP_803182.1:p.Lys413Asn

Select item 144047820714.

rs1440478207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:54815501 (GRCh38)
X:54841934 (GRCh37)
Canonical SPDI:: NC_000023.11:54815500:C:T
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.54815501C>T, NC_000023.10:g.54841934C>T, NG_012844.1:g.12764C>T, NM_014599.6:c.1640C>T, NM_014599.5:c.1640C>T, NM_014599.4:c.1640C>T, NM_201222.3:c.1640C>T, NM_201222.2:c.1640C>T, NM_201222.1:c.1640C>T, NM_177433.3:c.1640C>T, NM_177433.2:c.1640C>T, NM_177433.1:c.1640C>T, NM_006787.1:c.1640C>T, NP_055414.2:p.Ala547Val, NP_957516.1:p.Ala547Val, NP_803182.1:p.Ala547Val

Select item 144010720915.

rs1440107209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:54811095 (GRCh38)
X:54837528 (GRCh37)
Canonical SPDI:: NC_000023.11:54811094:C:A,NC_000023.11:54811094:C:T
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
T=0.000012/2 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.54811095C>A, NC_000023.11:g.54811095C>T, NC_000023.10:g.54837528C>A, NC_000023.10:g.54837528C>T, NG_012844.1:g.8358C>A, NG_012844.1:g.8358C>T, NM_014599.6:c.812C>A, NM_014599.6:c.812C>T, NM_014599.5:c.812C>A, NM_014599.5:c.812C>T, NM_014599.4:c.812C>A, NM_014599.4:c.812C>T, NM_201222.3:c.812C>A, NM_201222.3:c.812C>T, NM_201222.2:c.812C>A, NM_201222.2:c.812C>T, NM_201222.1:c.812C>A, NM_201222.1:c.812C>T, NM_177433.3:c.812C>A, NM_177433.3:c.812C>T, NM_177433.2:c.812C>A, NM_177433.2:c.812C>T, NM_177433.1:c.812C>A, NM_177433.1:c.812C>T, NM_006787.1:c.812C>A, NM_006787.1:c.812C>T, NP_055414.2:p.Pro271Gln, NP_055414.2:p.Pro271Leu, NP_957516.1:p.Pro271Gln, NP_957516.1:p.Pro271Leu, NP_803182.1:p.Pro271Gln, NP_803182.1:p.Pro271Leu

Select item 143985896116.

rs1439858961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:54813124 (GRCh38)
X:54839557 (GRCh37)
Canonical SPDI:: NC_000023.11:54813123:T:C
Gene:: MAGED2 (Varview), SNORA11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.54813124T>C, NC_000023.10:g.54839557T>C, NG_012844.1:g.10387T>C, NM_014599.6:c.1172T>C, NM_014599.5:c.1172T>C, NM_014599.4:c.1172T>C, NM_201222.3:c.1172T>C, NM_201222.2:c.1172T>C, NM_201222.1:c.1172T>C, NM_177433.3:c.1172T>C, NM_177433.2:c.1172T>C, NM_177433.1:c.1172T>C, NM_006787.1:c.1172T>C, NP_055414.2:p.Ile391Thr, NP_957516.1:p.Ile391Thr, NP_803182.1:p.Ile391Thr

Select item 143742474517.

rs1437424745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54815570 (GRCh38)
X:54842003 (GRCh37)
Canonical SPDI:: NC_000023.11:54815569:G:A
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54815570G>A, NC_000023.10:g.54842003G>A, NG_012844.1:g.12833G>A, NM_014599.6:c.1709G>A, NM_014599.5:c.1709G>A, NM_014599.4:c.1709G>A, NM_201222.3:c.1709G>A, NM_201222.2:c.1709G>A, NM_201222.1:c.1709G>A, NM_177433.3:c.1709G>A, NM_177433.2:c.1709G>A, NM_177433.1:c.1709G>A, NM_006787.1:c.1709G>A, NP_055414.2:p.Ser570Asn, NP_957516.1:p.Ser570Asn, NP_803182.1:p.Ser570Asn

Select item 143601538118.

rs1436015381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:54810870 (GRCh38)
X:54837303 (GRCh37)
Canonical SPDI:: NC_000023.11:54810869:C:T
Gene:: MAGED2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.54810870C>T, NC_000023.10:g.54837303C>T, NG_012844.1:g.8133C>T, NM_014599.6:c.587C>T, NM_014599.5:c.587C>T, NM_014599.4:c.587C>T, NM_201222.3:c.587C>T, NM_201222.2:c.587C>T, NM_201222.1:c.587C>T, NM_177433.3:c.587C>T, NM_177433.2:c.587C>T, NM_177433.1:c.587C>T, NM_006787.1:c.587C>T, NP_055414.2:p.Ala196Val, NP_957516.1:p.Ala196Val, NP_803182.1:p.Ala196Val

Select item 143270566219.

rs1432705662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:54809354 (GRCh38)
X:54835787 (GRCh37)
Canonical SPDI:: NC_000023.11:54809353:G:C
Gene:: MAGED2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54809354G>C, NC_000023.10:g.54835787G>C, NG_012844.1:g.6617G>C, NM_014599.6:c.23G>C, NM_014599.5:c.23G>C, NM_014599.4:c.23G>C, NM_201222.3:c.23G>C, NM_201222.2:c.23G>C, NM_201222.1:c.23G>C, NM_177433.3:c.23G>C, NM_177433.2:c.23G>C, NM_177433.1:c.23G>C, NM_006787.1:c.23G>C, NP_055414.2:p.Gly8Ala, NP_957516.1:p.Gly8Ala, NP_803182.1:p.Gly8Ala

Select item 143238486120.

rs1432384861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:54809938 (GRCh38)
X:54836371 (GRCh37)
Canonical SPDI:: NC_000023.11:54809937:C:G
Gene:: MAGED2 (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=0.000006/1 (GnomAD_exomes)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.54809938C>G, NC_000023.10:g.54836371C>G, NG_012844.1:g.7201C>G, NM_014599.6:c.262C>G, NM_014599.5:c.262C>G, NM_014599.4:c.262C>G, NM_201222.3:c.262C>G, NM_201222.2:c.262C>G, NM_201222.1:c.262C>G, NM_177433.3:c.262C>G, NM_177433.2:c.262C>G, NM_177433.1:c.262C>G, NM_006787.1:c.262C>G, NP_055414.2:p.Gln88Glu, NP_957516.1:p.Gln88Glu, NP_803182.1:p.Gln88Glu

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