SNP Links for Protein (Select 221316705) - SNP

Links from Protein

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Select item 14886819401.

rs1488681940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:137216092 (GRCh38)
9:140110544 (GRCh37)
Canonical SPDI:: NC_000009.12:137216091:A:G
Gene:: NDOR1 (Varview), LOC122513141 (Varview)
Functional Consequence:: missense_variant,splice_acceptor_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137216092A>G, NC_000009.11:g.140110544A>G, NM_001144026.3:c.1580A>G, NM_001144026.2:c.1580A>G, NM_001144026.1:c.1580A>G, NP_001137498.1:p.Gln527Arg

Select item 14871325532.

rs1487132553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137213852 (GRCh38)
9:140108304 (GRCh37)
Canonical SPDI:: NC_000009.12:137213851:C:T
Gene:: NDOR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137213852C>T, NC_000009.11:g.140108304C>T, NM_014434.4:c.384C>T, NM_014434.3:c.384C>T, NM_014434.2:c.384C>T, NM_001144026.3:c.384C>T, NM_001144026.2:c.384C>T, NM_001144026.1:c.384C>T, NM_001144028.3:c.384C>T, NM_001144028.2:c.384C>T, NM_001144028.1:c.384C>T, NM_001144027.3:c.384C>T, NM_001144027.2:c.384C>T, NM_001144027.1:c.384C>T

Select item 14871308853.

rs1487130885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:137205800 (GRCh38)
9:140100252 (GRCh37)
Canonical SPDI:: NC_000009.12:137205799:T:C
Gene:: NDOR1 (Varview), TMEM203 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000013/3 (GnomAD_exomes)
C=0.000064/17 (TOPMED)
C=0.000078/11 (GnomAD)
HGVS:: NC_000009.12:g.137205800T>C, NC_000009.11:g.140100252T>C, NG_027801.2:g.3394A>G, NM_014434.4:c.23T>C, NM_014434.3:c.23T>C, NM_014434.2:c.23T>C, NM_001144026.3:c.23T>C, NM_001144026.2:c.23T>C, NM_001144026.1:c.23T>C, NM_001144028.3:c.23T>C, NM_001144028.2:c.23T>C, NM_001144028.1:c.23T>C, NM_001144027.3:c.23T>C, NM_001144027.2:c.23T>C, NM_001144027.1:c.23T>C, NP_055249.1:p.Val8Ala, NP_001137498.1:p.Val8Ala, NP_001137500.1:p.Val8Ala, NP_001137499.1:p.Val8Ala

Select item 14864059414.

rs1486405941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137215200 (GRCh38)
9:140109652 (GRCh37)
Canonical SPDI:: NC_000009.12:137215199:C:T
Gene:: NDOR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.137215200C>T, NC_000009.11:g.140109652C>T, NM_014434.4:c.1171C>T, NM_014434.3:c.1171C>T, NM_014434.2:c.1171C>T, NM_001144026.3:c.1171C>T, NM_001144026.2:c.1171C>T, NM_001144026.1:c.1171C>T, NM_001144028.3:c.1171C>T, NM_001144028.2:c.1171C>T, NM_001144028.1:c.1171C>T, NM_001144027.3:c.1069C>T, NM_001144027.2:c.1069C>T, NM_001144027.1:c.1069C>T

Select item 14862081075.

rs1486208107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137215467 (GRCh38)
9:140109919 (GRCh37)
Canonical SPDI:: NC_000009.12:137215466:G:A
Gene:: NDOR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.137215467G>A, NC_000009.11:g.140109919G>A, NM_014434.4:c.1234G>A, NM_014434.3:c.1234G>A, NM_014434.2:c.1234G>A, NM_001144026.3:c.1234G>A, NM_001144026.2:c.1234G>A, NM_001144026.1:c.1234G>A, NM_001144028.3:c.1213G>A, NM_001144028.2:c.1213G>A, NM_001144028.1:c.1213G>A, NM_001144027.3:c.1132G>A, NM_001144027.2:c.1132G>A, NM_001144027.1:c.1132G>A, NP_055249.1:p.Glu412Lys, NP_001137498.1:p.Glu412Lys, NP_001137500.1:p.Glu405Lys, NP_001137499.1:p.Glu378Lys

Select item 14857826956.

rs1485782695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137215152 (GRCh38)
9:140109604 (GRCh37)
Canonical SPDI:: NC_000009.12:137215151:C:T
Gene:: NDOR1 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000009.12:g.137215152C>T, NC_000009.11:g.140109604C>T, NM_014434.4:c.1123C>T, NM_014434.3:c.1123C>T, NM_014434.2:c.1123C>T, NM_001144026.3:c.1123C>T, NM_001144026.2:c.1123C>T, NM_001144026.1:c.1123C>T, NM_001144028.3:c.1123C>T, NM_001144028.2:c.1123C>T, NM_001144028.1:c.1123C>T, NM_001144027.3:c.1021C>T, NM_001144027.2:c.1021C>T, NM_001144027.1:c.1021C>T, NP_055249.1:p.Leu375Phe, NP_001137498.1:p.Leu375Phe, NP_001137500.1:p.Leu375Phe, NP_001137499.1:p.Leu341Phe

Select item 14848684017.

rs1484868401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137214292 (GRCh38)
9:140108744 (GRCh37)
Canonical SPDI:: NC_000009.12:137214291:G:A
Gene:: NDOR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137214292G>A, NC_000009.11:g.140108744G>A, NM_014434.4:c.601G>A, NM_014434.3:c.601G>A, NM_014434.2:c.601G>A, NM_001144026.3:c.601G>A, NM_001144026.2:c.601G>A, NM_001144026.1:c.601G>A, NM_001144028.3:c.601G>A, NM_001144028.2:c.601G>A, NM_001144028.1:c.601G>A, NM_001144027.3:c.499G>A, NM_001144027.2:c.499G>A, NM_001144027.1:c.499G>A, NP_055249.1:p.Glu201Lys, NP_001137498.1:p.Glu201Lys, NP_001137500.1:p.Glu201Lys, NP_001137499.1:p.Glu167Lys

Select item 14821514458.

rs1482151445 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:137214978 (GRCh38)
9:140109430 (GRCh37)
Canonical SPDI:: NC_000009.12:137214977:T:G
Gene:: NDOR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137214978T>G, NC_000009.11:g.140109430T>G, NM_014434.4:c.1025T>G, NM_014434.3:c.1025T>G, NM_014434.2:c.1025T>G, NM_001144026.3:c.1025T>G, NM_001144026.2:c.1025T>G, NM_001144026.1:c.1025T>G, NM_001144028.3:c.1025T>G, NM_001144028.2:c.1025T>G, NM_001144028.1:c.1025T>G, NM_001144027.3:c.923T>G, NM_001144027.2:c.923T>G, NM_001144027.1:c.923T>G, NP_055249.1:p.Leu342Arg, NP_001137498.1:p.Leu342Arg, NP_001137500.1:p.Leu342Arg, NP_001137499.1:p.Leu308Arg

Select item 14805954749.

rs1480595474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137215959 (GRCh38)
9:140110411 (GRCh37)
Canonical SPDI:: NC_000009.12:137215958:G:A
Gene:: NDOR1 (Varview), LOC122513141 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137215959G>A, NC_000009.11:g.140110411G>A, NM_014434.4:c.1496G>A, NM_014434.3:c.1496G>A, NM_014434.2:c.1496G>A, NM_001144026.3:c.1496G>A, NM_001144026.2:c.1496G>A, NM_001144026.1:c.1496G>A, NM_001144028.3:c.1475G>A, NM_001144028.2:c.1475G>A, NM_001144028.1:c.1475G>A, NM_001144027.3:c.1394G>A, NM_001144027.2:c.1394G>A, NM_001144027.1:c.1394G>A, NP_055249.1:p.Trp499Ter, NP_001137498.1:p.Trp499Ter, NP_001137500.1:p.Trp492Ter, NP_001137499.1:p.Trp465Ter

Select item 147916605910.

rs1479166059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:137205909 (GRCh38)
9:140100361 (GRCh37)
Canonical SPDI:: NC_000009.12:137205908:G:A,NC_000009.12:137205908:G:C
Gene:: NDOR1 (Varview), TMEM203 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137205909G>A, NC_000009.12:g.137205909G>C, NC_000009.11:g.140100361G>A, NC_000009.11:g.140100361G>C, NG_027801.2:g.3285C>T, NG_027801.2:g.3285C>G, NM_014434.4:c.132G>A, NM_014434.4:c.132G>C, NM_014434.3:c.132G>A, NM_014434.3:c.132G>C, NM_014434.2:c.132G>A, NM_014434.2:c.132G>C, NM_001144026.3:c.132G>A, NM_001144026.3:c.132G>C, NM_001144026.2:c.132G>A, NM_001144026.2:c.132G>C, NM_001144026.1:c.132G>A, NM_001144026.1:c.132G>C, NM_001144028.3:c.132G>A, NM_001144028.3:c.132G>C, NM_001144028.2:c.132G>A, NM_001144028.2:c.132G>C, NM_001144028.1:c.132G>A, NM_001144028.1:c.132G>C, NM_001144027.3:c.132G>A, NM_001144027.3:c.132G>C, NM_001144027.2:c.132G>A, NM_001144027.2:c.132G>C, NM_001144027.1:c.132G>A, NM_001144027.1:c.132G>C

Select item 147503935811.

rs1475039358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:137216298 (GRCh38)
9:140110750 (GRCh37)
Canonical SPDI:: NC_000009.12:137216297:T:C
Gene:: NDOR1 (Varview), LOC122513141 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137216298T>C, NC_000009.11:g.140110750T>C, NM_014434.4:c.1676T>C, NM_014434.3:c.1676T>C, NM_014434.2:c.1676T>C, NM_001144026.3:c.1703T>C, NM_001144026.2:c.1703T>C, NM_001144026.1:c.1703T>C, NM_001144028.3:c.1655T>C, NM_001144028.2:c.1655T>C, NM_001144028.1:c.1655T>C, NM_001144027.3:c.1552T>C, NM_001144027.2:c.1552T>C, NM_001144027.1:c.1552T>C, NP_055249.1:p.Val559Ala, NP_001137498.1:p.Val568Ala, NP_001137500.1:p.Val552Ala, NP_001137499.1:p.Ser518Pro

Select item 147259459212.

rs1472594592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137214359 (GRCh38)
9:140108811 (GRCh37)
Canonical SPDI:: NC_000009.12:137214358:C:T
Gene:: NDOR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137214359C>T, NC_000009.11:g.140108811C>T, NM_014434.4:c.668C>T, NM_014434.3:c.668C>T, NM_014434.2:c.668C>T, NM_001144026.3:c.668C>T, NM_001144026.2:c.668C>T, NM_001144026.1:c.668C>T, NM_001144028.3:c.668C>T, NM_001144028.2:c.668C>T, NM_001144028.1:c.668C>T, NM_001144027.3:c.566C>T, NM_001144027.2:c.566C>T, NM_001144027.1:c.566C>T, NP_055249.1:p.Ser223Phe, NP_001137498.1:p.Ser223Phe, NP_001137500.1:p.Ser223Phe, NP_001137499.1:p.Ser189Phe

Select item 147248169213.

rs1472481692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137214917 (GRCh38)
9:140109369 (GRCh37)
Canonical SPDI:: NC_000009.12:137214916:C:T
Gene:: NDOR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137214917C>T, NC_000009.11:g.140109369C>T, NM_014434.4:c.964C>T, NM_014434.3:c.964C>T, NM_014434.2:c.964C>T, NM_001144026.3:c.964C>T, NM_001144026.2:c.964C>T, NM_001144026.1:c.964C>T, NM_001144028.3:c.964C>T, NM_001144028.2:c.964C>T, NM_001144028.1:c.964C>T, NM_001144027.3:c.862C>T, NM_001144027.2:c.862C>T, NM_001144027.1:c.862C>T, NP_055249.1:p.Leu322Phe, NP_001137498.1:p.Leu322Phe, NP_001137500.1:p.Leu322Phe, NP_001137499.1:p.Leu288Phe

Select item 147153881814.

rs1471538818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137215765 (GRCh38)
9:140110217 (GRCh37)
Canonical SPDI:: NC_000009.12:137215764:C:A
Gene:: NDOR1 (Varview), LOC122513141 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137215765C>A, NC_000009.11:g.140110217C>A, NM_014434.4:c.1395C>A, NM_014434.3:c.1395C>A, NM_014434.2:c.1395C>A, NM_001144026.3:c.1395C>A, NM_001144026.2:c.1395C>A, NM_001144026.1:c.1395C>A, NM_001144028.3:c.1374C>A, NM_001144028.2:c.1374C>A, NM_001144028.1:c.1374C>A, NM_001144027.3:c.1293C>A, NM_001144027.2:c.1293C>A, NM_001144027.1:c.1293C>A, NP_055249.1:p.Phe465Leu, NP_001137498.1:p.Phe465Leu, NP_001137500.1:p.Phe458Leu, NP_001137499.1:p.Phe431Leu

Select item 146944769215.

rs1469447692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:137206241 (GRCh38)
9:140100693 (GRCh37)
Canonical SPDI:: NC_000009.12:137206240:A:C
Gene:: NDOR1 (Varview), TMEM203 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.137206241A>C, NC_000009.11:g.140100693A>C, NG_027801.2:g.2953T>G, NM_014434.4:c.145A>C, NM_014434.3:c.145A>C, NM_014434.2:c.145A>C, NM_001144026.3:c.145A>C, NM_001144026.2:c.145A>C, NM_001144026.1:c.145A>C, NM_001144028.3:c.145A>C, NM_001144028.2:c.145A>C, NM_001144028.1:c.145A>C, NM_001144027.3:c.145A>C, NM_001144027.2:c.145A>C, NM_001144027.1:c.145A>C, NP_055249.1:p.Ile49Leu, NP_001137498.1:p.Ile49Leu, NP_001137500.1:p.Ile49Leu, NP_001137499.1:p.Ile49Leu

Select item 146944226416.

rs1469442264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:137216086 (GRCh38)
9:140110538 (GRCh37)
Canonical SPDI:: NC_000009.12:137216085:C:A,NC_000009.12:137216085:C:T
Gene:: NDOR1 (Varview), LOC122513141 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.137216086C>A, NC_000009.12:g.137216086C>T, NC_000009.11:g.140110538C>A, NC_000009.11:g.140110538C>T, NM_001144026.3:c.1574C>A, NM_001144026.3:c.1574C>T, NM_001144026.2:c.1574C>A, NM_001144026.2:c.1574C>T, NM_001144026.1:c.1574C>A, NM_001144026.1:c.1574C>T, NP_001137498.1:p.Ala525Asp, NP_001137498.1:p.Ala525Val

Select item 146896941117.

rs1468969411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137216167 (GRCh38)
9:140110619 (GRCh37)
Canonical SPDI:: NC_000009.12:137216166:G:A
Gene:: NDOR1 (Varview), LOC122513141 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,splice_donor_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000009.12:g.137216167G>A, NC_000009.11:g.140110619G>A, NM_014434.4:c.1628G>A, NM_014434.3:c.1628G>A, NM_014434.2:c.1628G>A, NM_001144026.3:c.1655G>A, NM_001144026.2:c.1655G>A, NM_001144026.1:c.1655G>A, NM_001144028.3:c.1607G>A, NM_001144028.2:c.1607G>A, NM_001144028.1:c.1607G>A, NP_055249.1:p.Gly543Asp, NP_001137498.1:p.Gly552Asp, NP_001137500.1:p.Gly536Asp

Select item 146889952918.

rs1468899529 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>- [Show Flanks]
Chromosome:: 9:137206261 (GRCh38)
9:140100713 (GRCh37)
Canonical SPDI:: NC_000009.12:137206259:TATTT:T
Gene:: NDOR1 (Varview), TMEM203 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.137206261_137206264del, NC_000009.11:g.140100713_140100716del, NG_027801.2:g.2931_2934del, NM_014434.4:c.165_168del, NM_014434.3:c.165_168del, NM_014434.2:c.165_168del, NM_001144026.3:c.165_168del, NM_001144026.2:c.165_168del, NM_001144026.1:c.165_168del, NM_001144028.3:c.165_168del, NM_001144028.2:c.165_168del, NM_001144028.1:c.165_168del, NM_001144027.3:c.165_168del, NM_001144027.2:c.165_168del, NM_001144027.1:c.165_168del, NP_055249.1:p.Ile55fs, NP_001137498.1:p.Ile55fs, NP_001137500.1:p.Ile55fs, NP_001137499.1:p.Ile55fs

Select item 146802223819.

rs1468022238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:137215947 (GRCh38)
9:140110399 (GRCh37)
Canonical SPDI:: NC_000009.12:137215946:G:A,NC_000009.12:137215946:G:T
Gene:: NDOR1 (Varview), LOC122513141 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137215947G>A, NC_000009.12:g.137215947G>T, NC_000009.11:g.140110399G>A, NC_000009.11:g.140110399G>T, NM_014434.4:c.1484G>A, NM_014434.4:c.1484G>T, NM_014434.3:c.1484G>A, NM_014434.3:c.1484G>T, NM_014434.2:c.1484G>A, NM_014434.2:c.1484G>T, NM_001144026.3:c.1484G>A, NM_001144026.3:c.1484G>T, NM_001144026.2:c.1484G>A, NM_001144026.2:c.1484G>T, NM_001144026.1:c.1484G>A, NM_001144026.1:c.1484G>T, NM_001144028.3:c.1463G>A, NM_001144028.3:c.1463G>T, NM_001144028.2:c.1463G>A, NM_001144028.2:c.1463G>T, NM_001144028.1:c.1463G>A, NM_001144028.1:c.1463G>T, NM_001144027.3:c.1382G>A, NM_001144027.3:c.1382G>T, NM_001144027.2:c.1382G>A, NM_001144027.2:c.1382G>T, NM_001144027.1:c.1382G>A, NM_001144027.1:c.1382G>T, NP_055249.1:p.Trp495Ter, NP_055249.1:p.Trp495Leu, NP_001137498.1:p.Trp495Ter, NP_001137498.1:p.Trp495Leu, NP_001137500.1:p.Trp488Ter, NP_001137500.1:p.Trp488Leu, NP_001137499.1:p.Trp461Ter, NP_001137499.1:p.Trp461Leu

Select item 146673415520.

rs1466734155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137214574 (GRCh38)
9:140109026 (GRCh37)
Canonical SPDI:: NC_000009.12:137214573:G:A
Gene:: NDOR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137214574G>A, NC_000009.11:g.140109026G>A, NM_014434.4:c.727G>A, NM_014434.3:c.727G>A, NM_014434.2:c.727G>A, NM_001144026.3:c.727G>A, NM_001144026.2:c.727G>A, NM_001144026.1:c.727G>A, NM_001144028.3:c.727G>A, NM_001144028.2:c.727G>A, NM_001144028.1:c.727G>A, NM_001144027.3:c.625G>A, NM_001144027.2:c.625G>A, NM_001144027.1:c.625G>A, NP_055249.1:p.Ala243Thr, NP_001137498.1:p.Ala243Thr, NP_001137500.1:p.Ala243Thr, NP_001137499.1:p.Ala209Thr

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