SNP Links for Protein (Select 733606382) - SNP

Links from Protein

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Select item 14908491551.

rs1490849155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:101476678 (GRCh38)
9:104238960 (GRCh37)
Canonical SPDI:: NC_000009.12:101476677:G:A
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000009.12:g.101476678G>A, NC_000009.11:g.104238960G>A, NM_032342.3:c.415C>T, NM_032342.2:c.415C>T, NM_032342.1:c.415C>T, XM_024447701.2:c.415C>T, XM_024447701.1:c.415C>T, NM_001303107.2:c.415C>T, NM_001303107.1:c.415C>T, NM_001303108.2:c.415C>T, NM_001303108.1:c.415C>T, NM_001371233.1:c.415C>T, NP_115718.1:p.His139Tyr, XP_024303469.1:p.His139Tyr, NP_001290036.1:p.His139Tyr, NP_001290037.1:p.His139Tyr, NP_001358162.1:p.His139Tyr

Select item 14899147112.

rs1489914711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:101476558 (GRCh38)
9:104238840 (GRCh37)
Canonical SPDI:: NC_000009.12:101476557:G:T
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.101476558G>T, NC_000009.11:g.104238840G>T, NM_032342.3:c.535C>A, NM_032342.2:c.535C>A, NM_032342.1:c.535C>A, XM_024447701.2:c.535C>A, XM_024447701.1:c.535C>A, NM_001303107.2:c.535C>A, NM_001303107.1:c.535C>A, NM_001303108.2:c.535C>A, NM_001303108.1:c.535C>A, NM_001371233.1:c.535C>A, NP_115718.1:p.Pro179Thr, XP_024303469.1:p.Pro179Thr, NP_001290036.1:p.Pro179Thr, NP_001290037.1:p.Pro179Thr, NP_001358162.1:p.Pro179Thr

Select item 14876510683.

rs1487651068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:101476082 (GRCh38)
9:104238364 (GRCh37)
Canonical SPDI:: NC_000009.12:101476081:C:T
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.101476082C>T, NC_000009.11:g.104238364C>T, NM_032342.3:c.1011G>A, NM_032342.2:c.1011G>A, NM_032342.1:c.1011G>A, XM_024447701.2:c.1011G>A, XM_024447701.1:c.1011G>A, NM_001303107.2:c.1011G>A, NM_001303107.1:c.1011G>A, NM_001303108.2:c.1011G>A, NM_001303108.1:c.1011G>A, NM_001371233.1:c.1011G>A, NP_115718.1:p.Met337Ile, XP_024303469.1:p.Met337Ile, NP_001290036.1:p.Met337Ile, NP_001290037.1:p.Met337Ile, NP_001358162.1:p.Met337Ile

Select item 14841609824.

rs1484160982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:101476480 (GRCh38)
9:104238762 (GRCh37)
Canonical SPDI:: NC_000009.12:101476479:C:T
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.101476480C>T, NC_000009.11:g.104238762C>T, NM_032342.3:c.613G>A, NM_032342.2:c.613G>A, NM_032342.1:c.613G>A, XM_024447701.2:c.613G>A, XM_024447701.1:c.613G>A, NM_001303107.2:c.613G>A, NM_001303107.1:c.613G>A, NM_001303108.2:c.613G>A, NM_001303108.1:c.613G>A, NM_001371233.1:c.613G>A, NP_115718.1:p.Asp205Asn, XP_024303469.1:p.Asp205Asn, NP_001290036.1:p.Asp205Asn, NP_001290037.1:p.Asp205Asn, NP_001358162.1:p.Asp205Asn

Select item 14825271495.

rs1482527149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:101476857 (GRCh38)
9:104239139 (GRCh37)
Canonical SPDI:: NC_000009.12:101476856:T:C
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.101476857T>C, NC_000009.11:g.104239139T>C, NM_032342.3:c.236A>G, NM_032342.2:c.236A>G, NM_032342.1:c.236A>G, XM_024447701.2:c.236A>G, XM_024447701.1:c.236A>G, NM_001303107.2:c.236A>G, NM_001303107.1:c.236A>G, NM_001303108.2:c.236A>G, NM_001303108.1:c.236A>G, NM_001371233.1:c.236A>G, NP_115718.1:p.Tyr79Cys, XP_024303469.1:p.Tyr79Cys, NP_001290036.1:p.Tyr79Cys, NP_001290037.1:p.Tyr79Cys, NP_001358162.1:p.Tyr79Cys

Select item 14820115856.

rs1482011585 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATGTATA [Show Flanks]
Chromosome:: 9:101476249 (GRCh38)
9:104238532 (GRCh37)
Canonical SPDI:: NC_000009.12:101476249:CATGTATA:CATGTATACATGTATA
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,inframe_indel,intron_variant
Validated:: by frequency,by alfa
MAF:: CATGTATACATGTATA=0./0 (ALFA)
HGVS:: NC_000009.12:g.101476250_101476257dup, NC_000009.11:g.104238532_104238539dup, NM_032342.3:c.836_843dup, NM_032342.2:c.836_843dup, NM_032342.1:c.836_843dup, XM_024447701.2:c.836_843dup, XM_024447701.1:c.836_843dup, NM_001303107.2:c.836_843dup, NM_001303107.1:c.836_843dup, NM_001303108.2:c.836_843dup, NM_001303108.1:c.836_843dup, NM_001371233.1:c.836_843dup, NP_115718.1:p.Arg282delinsTyrThrTer, XP_024303469.1:p.Arg282delinsTyrThrTer, NP_001290036.1:p.Arg282delinsTyrThrTer, NP_001290037.1:p.Arg282delinsTyrThrTer, NP_001358162.1:p.Arg282delinsTyrThrTer

Select item 14806293657.

rs1480629365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:101476201 (GRCh38)
9:104238483 (GRCh37)
Canonical SPDI:: NC_000009.12:101476200:A:T
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.101476201A>T, NC_000009.11:g.104238483A>T, NM_032342.3:c.892T>A, NM_032342.2:c.892T>A, NM_032342.1:c.892T>A, XM_024447701.2:c.892T>A, XM_024447701.1:c.892T>A, NM_001303107.2:c.892T>A, NM_001303107.1:c.892T>A, NM_001303108.2:c.892T>A, NM_001303108.1:c.892T>A, NM_001371233.1:c.892T>A, NP_115718.1:p.Ser298Thr, XP_024303469.1:p.Ser298Thr, NP_001290036.1:p.Ser298Thr, NP_001290037.1:p.Ser298Thr, NP_001358162.1:p.Ser298Thr

Select item 14757571388.

rs1475757138 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 9:101476987 (GRCh38)
9:104239270 (GRCh37)
Canonical SPDI:: NC_000009.12:101476987:AAA:AAAAA
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
AA=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.101476989_101476990dup, NC_000009.11:g.104239271_104239272dup, NM_032342.3:c.104_105dup, NM_032342.2:c.104_105dup, NM_032342.1:c.104_105dup, XM_024447701.2:c.104_105dup, XM_024447701.1:c.104_105dup, NM_001303107.2:c.104_105dup, NM_001303107.1:c.104_105dup, NM_001303108.2:c.104_105dup, NM_001303108.1:c.104_105dup, NM_001371233.1:c.104_105dup, NP_115718.1:p.Gly36fs, XP_024303469.1:p.Gly36fs, NP_001290036.1:p.Gly36fs, NP_001290037.1:p.Gly36fs, NP_001358162.1:p.Gly36fs

Select item 14753789749.

rs1475378974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:101476572 (GRCh38)
9:104238854 (GRCh37)
Canonical SPDI:: NC_000009.12:101476571:T:G
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.101476572T>G, NC_000009.11:g.104238854T>G, NM_032342.3:c.521A>C, NM_032342.2:c.521A>C, NM_032342.1:c.521A>C, XM_024447701.2:c.521A>C, XM_024447701.1:c.521A>C, NM_001303107.2:c.521A>C, NM_001303107.1:c.521A>C, NM_001303108.2:c.521A>C, NM_001303108.1:c.521A>C, NM_001371233.1:c.521A>C, NP_115718.1:p.Asp174Ala, XP_024303469.1:p.Asp174Ala, NP_001290036.1:p.Asp174Ala, NP_001290037.1:p.Asp174Ala, NP_001358162.1:p.Asp174Ala

Select item 147435965510.

rs1474359655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:101476829 (GRCh38)
9:104239111 (GRCh37)
Canonical SPDI:: NC_000009.12:101476828:G:A
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.101476829G>A, NC_000009.11:g.104239111G>A, NM_032342.3:c.264C>T, NM_032342.2:c.264C>T, NM_032342.1:c.264C>T, XM_024447701.2:c.264C>T, XM_024447701.1:c.264C>T, NM_001303107.2:c.264C>T, NM_001303107.1:c.264C>T, NM_001303108.2:c.264C>T, NM_001303108.1:c.264C>T, NM_001371233.1:c.264C>T

Select item 147314218811.

rs1473142188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:101476382 (GRCh38)
9:104238664 (GRCh37)
Canonical SPDI:: NC_000009.12:101476381:G:C
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.101476382G>C, NC_000009.11:g.104238664G>C, NM_032342.3:c.711C>G, NM_032342.2:c.711C>G, NM_032342.1:c.711C>G, XM_024447701.2:c.711C>G, XM_024447701.1:c.711C>G, NM_001303107.2:c.711C>G, NM_001303107.1:c.711C>G, NM_001303108.2:c.711C>G, NM_001303108.1:c.711C>G, NM_001371233.1:c.711C>G

Select item 147092323012.

rs1470923230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:101476047 (GRCh38)
9:104238329 (GRCh37)
Canonical SPDI:: NC_000009.12:101476046:G:A,NC_000009.12:101476046:G:T
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.101476047G>A, NC_000009.12:g.101476047G>T, NC_000009.11:g.104238329G>A, NC_000009.11:g.104238329G>T, NM_032342.3:c.1046C>T, NM_032342.3:c.1046C>A, NM_032342.2:c.1046C>T, NM_032342.2:c.1046C>A, NM_032342.1:c.1046C>T, NM_032342.1:c.1046C>A, XM_024447701.2:c.1046C>T, XM_024447701.2:c.1046C>A, XM_024447701.1:c.1046C>T, XM_024447701.1:c.1046C>A, NM_001303107.2:c.1046C>T, NM_001303107.2:c.1046C>A, NM_001303107.1:c.1046C>T, NM_001303107.1:c.1046C>A, NM_001303108.2:c.1046C>T, NM_001303108.2:c.1046C>A, NM_001303108.1:c.1046C>T, NM_001303108.1:c.1046C>A, NM_001371233.1:c.1046C>T, NM_001371233.1:c.1046C>A, NP_115718.1:p.Thr349Ile, NP_115718.1:p.Thr349Asn, XP_024303469.1:p.Thr349Ile, XP_024303469.1:p.Thr349Asn, NP_001290036.1:p.Thr349Ile, NP_001290036.1:p.Thr349Asn, NP_001290037.1:p.Thr349Ile, NP_001290037.1:p.Thr349Asn, NP_001358162.1:p.Thr349Ile, NP_001358162.1:p.Thr349Asn

Select item 147042712713.

rs1470427127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:101476056 (GRCh38)
9:104238338 (GRCh37)
Canonical SPDI:: NC_000009.12:101476055:C:T
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.101476056C>T, NC_000009.11:g.104238338C>T, NM_032342.3:c.1037G>A, NM_032342.2:c.1037G>A, NM_032342.1:c.1037G>A, XM_024447701.2:c.1037G>A, XM_024447701.1:c.1037G>A, NM_001303107.2:c.1037G>A, NM_001303107.1:c.1037G>A, NM_001303108.2:c.1037G>A, NM_001303108.1:c.1037G>A, NM_001371233.1:c.1037G>A, NP_115718.1:p.Arg346Gln, XP_024303469.1:p.Arg346Gln, NP_001290036.1:p.Arg346Gln, NP_001290037.1:p.Arg346Gln, NP_001358162.1:p.Arg346Gln

Select item 147042640314.

rs1470426403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:101476307 (GRCh38)
9:104238589 (GRCh37)
Canonical SPDI:: NC_000009.12:101476306:G:A
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.101476307G>A, NC_000009.11:g.104238589G>A, NM_032342.3:c.786C>T, NM_032342.2:c.786C>T, NM_032342.1:c.786C>T, XM_024447701.2:c.786C>T, XM_024447701.1:c.786C>T, NM_001303107.2:c.786C>T, NM_001303107.1:c.786C>T, NM_001303108.2:c.786C>T, NM_001303108.1:c.786C>T, NM_001371233.1:c.786C>T

Select item 146558726915.

rs1465587269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:101475945 (GRCh38)
9:104238227 (GRCh37)
Canonical SPDI:: NC_000009.12:101475944:T:C
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.101475945T>C, NC_000009.11:g.104238227T>C, NM_032342.3:c.1148A>G, NM_032342.2:c.1148A>G, NM_032342.1:c.1148A>G, XM_024447701.2:c.1148A>G, XM_024447701.1:c.1148A>G, NM_001303107.2:c.1148A>G, NM_001303107.1:c.1148A>G, NM_001303108.2:c.1148A>G, NM_001303108.1:c.1148A>G, NM_001371233.1:c.1148A>G, NP_115718.1:p.Asn383Ser, XP_024303469.1:p.Asn383Ser, NP_001290036.1:p.Asn383Ser, NP_001290037.1:p.Asn383Ser, NP_001358162.1:p.Asn383Ser

Select item 146496857516.

rs1464968575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:101476326 (GRCh38)
9:104238608 (GRCh37)
Canonical SPDI:: NC_000009.12:101476325:T:C
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.101476326T>C, NC_000009.11:g.104238608T>C, NM_032342.3:c.767A>G, NM_032342.2:c.767A>G, NM_032342.1:c.767A>G, XM_024447701.2:c.767A>G, XM_024447701.1:c.767A>G, NM_001303107.2:c.767A>G, NM_001303107.1:c.767A>G, NM_001303108.2:c.767A>G, NM_001303108.1:c.767A>G, NM_001371233.1:c.767A>G, NP_115718.1:p.Asn256Ser, XP_024303469.1:p.Asn256Ser, NP_001290036.1:p.Asn256Ser, NP_001290037.1:p.Asn256Ser, NP_001358162.1:p.Asn256Ser

Select item 145918936117.

rs1459189361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:101476312 (GRCh38)
9:104238594 (GRCh37)
Canonical SPDI:: NC_000009.12:101476311:G:A,NC_000009.12:101476311:G:T
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.101476312G>A, NC_000009.12:g.101476312G>T, NC_000009.11:g.104238594G>A, NC_000009.11:g.104238594G>T, NM_032342.3:c.781C>T, NM_032342.3:c.781C>A, NM_032342.2:c.781C>T, NM_032342.2:c.781C>A, NM_032342.1:c.781C>T, NM_032342.1:c.781C>A, XM_024447701.2:c.781C>T, XM_024447701.2:c.781C>A, XM_024447701.1:c.781C>T, XM_024447701.1:c.781C>A, NM_001303107.2:c.781C>T, NM_001303107.2:c.781C>A, NM_001303107.1:c.781C>T, NM_001303107.1:c.781C>A, NM_001303108.2:c.781C>T, NM_001303108.2:c.781C>A, NM_001303108.1:c.781C>T, NM_001303108.1:c.781C>A, NM_001371233.1:c.781C>T, NM_001371233.1:c.781C>A, NP_115718.1:p.Arg261Trp, XP_024303469.1:p.Arg261Trp, NP_001290036.1:p.Arg261Trp, NP_001290037.1:p.Arg261Trp, NP_001358162.1:p.Arg261Trp

Select item 144817445918.

rs1448174459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:101476439 (GRCh38)
9:104238721 (GRCh37)
Canonical SPDI:: NC_000009.12:101476438:C:T
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.101476439C>T, NC_000009.11:g.104238721C>T, NM_032342.3:c.654G>A, NM_032342.2:c.654G>A, NM_032342.1:c.654G>A, XM_024447701.2:c.654G>A, XM_024447701.1:c.654G>A, NM_001303107.2:c.654G>A, NM_001303107.1:c.654G>A, NM_001303108.2:c.654G>A, NM_001303108.1:c.654G>A, NM_001371233.1:c.654G>A

Select item 144694823519.

rs1446948235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:101475959 (GRCh38)
9:104238241 (GRCh37)
Canonical SPDI:: NC_000009.12:101475958:A:C,NC_000009.12:101475958:A:G
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0./0 (Korea1K)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.101475959A>C, NC_000009.12:g.101475959A>G, NC_000009.11:g.104238241A>C, NC_000009.11:g.104238241A>G, NM_032342.3:c.1134T>G, NM_032342.3:c.1134T>C, NM_032342.2:c.1134T>G, NM_032342.2:c.1134T>C, NM_032342.1:c.1134T>G, NM_032342.1:c.1134T>C, XM_024447701.2:c.1134T>G, XM_024447701.2:c.1134T>C, XM_024447701.1:c.1134T>G, XM_024447701.1:c.1134T>C, NM_001303107.2:c.1134T>G, NM_001303107.2:c.1134T>C, NM_001303107.1:c.1134T>G, NM_001303107.1:c.1134T>C, NM_001303108.2:c.1134T>G, NM_001303108.2:c.1134T>C, NM_001303108.1:c.1134T>G, NM_001303108.1:c.1134T>C, NM_001371233.1:c.1134T>G, NM_001371233.1:c.1134T>C, NP_115718.1:p.Tyr378Ter, XP_024303469.1:p.Tyr378Ter, NP_001290036.1:p.Tyr378Ter, NP_001290037.1:p.Tyr378Ter, NP_001358162.1:p.Tyr378Ter

Select item 144290890320.

rs1442908903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:101476468 (GRCh38)
9:104238750 (GRCh37)
Canonical SPDI:: NC_000009.12:101476467:T:G
Gene:: PGAP4 (Varview), TMEM246-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.101476468T>G, NC_000009.11:g.104238750T>G, NM_032342.3:c.625A>C, NM_032342.2:c.625A>C, NM_032342.1:c.625A>C, XM_024447701.2:c.625A>C, XM_024447701.1:c.625A>C, NM_001303107.2:c.625A>C, NM_001303107.1:c.625A>C, NM_001303108.2:c.625A>C, NM_001303108.1:c.625A>C, NM_001371233.1:c.625A>C, NP_115718.1:p.Met209Leu, XP_024303469.1:p.Met209Leu, NP_001290036.1:p.Met209Leu, NP_001290037.1:p.Met209Leu, NP_001358162.1:p.Met209Leu

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