SNP Links for Protein (Select 269914169) - SNP

Links from Protein

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Select item 14883274351.

rs1488327435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39717210 (GRCh38)
2:39944350 (GRCh37)
Canonical SPDI:: NC_000002.12:39717209:A:G
Gene:: TMEM178A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39717210A>G, NC_000002.11:g.39944350A>G, NM_152390.3:c.853A>G, NM_152390.2:c.853A>G, NM_001167959.2:c.307A>G, NM_001167959.1:c.307A>G, XM_017003371.2:c.307A>G, XM_017003371.1:c.307A>G, XM_047443422.1:c.307A>G, XM_005264144.1:c.715A>G, XM_005264145.1:c.601A>G, NP_689603.2:p.Lys285Glu, NP_001161431.1:p.Lys103Glu, XP_016858860.1:p.Lys103Glu, XP_047299378.1:p.Lys103Glu, XP_005264201.1:p.Lys239Glu, XP_005264202.1:p.Lys201Glu

Select item 14526396822.

rs1452639682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39707183 (GRCh38)
2:39934323 (GRCh37)
Canonical SPDI:: NC_000002.12:39707182:A:G
Gene:: TMEM178A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39707183A>G, NC_000002.11:g.39934323A>G, NM_152390.3:c.649A>G, NM_152390.2:c.649A>G, XM_017003369.2:c.649A>G, XM_017003369.1:c.649A>G, NM_001167959.2:c.103A>G, NM_001167959.1:c.103A>G, XM_017003371.2:c.103A>G, XM_017003371.1:c.103A>G, XM_047443422.1:c.103A>G, NP_689603.2:p.Thr217Ala, XP_016858858.1:p.Thr217Ala, NP_001161431.1:p.Thr35Ala, XP_016858860.1:p.Thr35Ala, XP_047299378.1:p.Thr35Ala

Select item 14459696083.

rs1445969608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39717119 (GRCh38)
2:39944259 (GRCh37)
Canonical SPDI:: NC_000002.12:39717118:C:T
Gene:: TMEM178A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39717119C>T, NC_000002.11:g.39944259C>T, NM_152390.3:c.762C>T, NM_152390.2:c.762C>T, NM_001167959.2:c.216C>T, NM_001167959.1:c.216C>T, XM_017003371.2:c.216C>T, XM_017003371.1:c.216C>T, XM_047443422.1:c.216C>T, XM_005264144.1:c.624C>T, XM_005264145.1:c.510C>T

Select item 14412496814.

rs1441249681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39707131 (GRCh38)
2:39934271 (GRCh37)
Canonical SPDI:: NC_000002.12:39707130:C:T
Gene:: TMEM178A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39707131C>T, NC_000002.11:g.39934271C>T, NM_152390.3:c.597C>T, NM_152390.2:c.597C>T, XM_017003369.2:c.597C>T, XM_017003369.1:c.597C>T, NM_001167959.2:c.51C>T, NM_001167959.1:c.51C>T, XM_017003371.2:c.51C>T, XM_017003371.1:c.51C>T, XM_047443422.1:c.51C>T

Select item 14236055225.

rs1423605522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39717033 (GRCh38)
2:39944173 (GRCh37)
Canonical SPDI:: NC_000002.12:39717032:T:C
Gene:: TMEM178A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39717033T>C, NC_000002.11:g.39944173T>C, NM_152390.3:c.676T>C, NM_152390.2:c.676T>C, NM_001167959.2:c.130T>C, NM_001167959.1:c.130T>C, XM_017003371.2:c.130T>C, XM_017003371.1:c.130T>C, XM_047443422.1:c.130T>C, XM_005264144.1:c.538T>C, XM_005264145.1:c.424T>C, NP_689603.2:p.Cys226Arg, NP_001161431.1:p.Cys44Arg, XP_016858860.1:p.Cys44Arg, XP_047299378.1:p.Cys44Arg, XP_005264201.1:p.Cys180Arg, XP_005264202.1:p.Cys142Arg

Select item 14029027966.

rs1402902796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:39717162 (GRCh38)
2:39944302 (GRCh37)
Canonical SPDI:: NC_000002.12:39717161:G:A
Gene:: TMEM178A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.39717162G>A, NC_000002.11:g.39944302G>A, NM_152390.3:c.805G>A, NM_152390.2:c.805G>A, NM_001167959.2:c.259G>A, NM_001167959.1:c.259G>A, XM_017003371.2:c.259G>A, XM_017003371.1:c.259G>A, XM_047443422.1:c.259G>A, XM_005264144.1:c.667G>A, XM_005264145.1:c.553G>A, NP_689603.2:p.Val269Met, NP_001161431.1:p.Val87Met, XP_016858860.1:p.Val87Met, XP_047299378.1:p.Val87Met, XP_005264201.1:p.Val223Met, XP_005264202.1:p.Val185Met

Select item 13951234117.

rs1395123411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:39717046 (GRCh38)
2:39944186 (GRCh37)
Canonical SPDI:: NC_000002.12:39717045:C:G
Gene:: TMEM178A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.39717046C>G, NC_000002.11:g.39944186C>G, NM_152390.3:c.689C>G, NM_152390.2:c.689C>G, NM_001167959.2:c.143C>G, NM_001167959.1:c.143C>G, XM_017003371.2:c.143C>G, XM_017003371.1:c.143C>G, XM_047443422.1:c.143C>G, XM_005264144.1:c.551C>G, XM_005264145.1:c.437C>G, NP_689603.2:p.Ala230Gly, NP_001161431.1:p.Ala48Gly, XP_016858860.1:p.Ala48Gly, XP_047299378.1:p.Ala48Gly, XP_005264201.1:p.Ala184Gly, XP_005264202.1:p.Ala146Gly

Select item 13770294228.

rs1377029422 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:39717237 (GRCh38)
2:39944377 (GRCh37)
Canonical SPDI:: NC_000002.12:39717233:AGAGA:AGA
Gene:: TMEM178A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.39717235GA[1], NC_000002.11:g.39944375GA[1], NM_152390.3:c.880_881del, NM_152390.2:c.880_881del, NM_001167959.2:c.334_335del, NM_001167959.1:c.334_335del, XM_017003371.2:c.334_335del, XM_017003371.1:c.334_335del, XM_047443422.1:c.334_335del, XM_005264144.1:c.742_743del, XM_005264145.1:c.628_629del, NP_689603.2:p.Asp294fs, NP_001161431.1:p.Asp112fs, XP_016858860.1:p.Asp112fs, XP_047299378.1:p.Asp112fs, XP_005264201.1:p.Asp248fs, XP_005264202.1:p.Asp210fs

Select item 13588926659.

rs1358892665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:39707162 (GRCh38)
2:39934302 (GRCh37)
Canonical SPDI:: NC_000002.12:39707161:G:A
Gene:: TMEM178A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.39707162G>A, NC_000002.11:g.39934302G>A, NM_152390.3:c.628G>A, NM_152390.2:c.628G>A, XM_017003369.2:c.628G>A, XM_017003369.1:c.628G>A, NM_001167959.2:c.82G>A, NM_001167959.1:c.82G>A, XM_017003371.2:c.82G>A, XM_017003371.1:c.82G>A, XM_047443422.1:c.82G>A, NP_689603.2:p.Ala210Thr, XP_016858858.1:p.Ala210Thr, NP_001161431.1:p.Ala28Thr, XP_016858860.1:p.Ala28Thr, XP_047299378.1:p.Ala28Thr

Select item 133157997410.

rs1331579974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:39707122 (GRCh38)
2:39934262 (GRCh37)
Canonical SPDI:: NC_000002.12:39707121:A:C,NC_000002.12:39707121:A:G
Gene:: TMEM178A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.39707122A>C, NC_000002.12:g.39707122A>G, NC_000002.11:g.39934262A>C, NC_000002.11:g.39934262A>G, NM_152390.3:c.588A>C, NM_152390.3:c.588A>G, NM_152390.2:c.588A>C, NM_152390.2:c.588A>G, XM_017003369.2:c.588A>C, XM_017003369.2:c.588A>G, XM_017003369.1:c.588A>C, XM_017003369.1:c.588A>G, NM_001167959.2:c.42A>C, NM_001167959.2:c.42A>G, NM_001167959.1:c.42A>C, NM_001167959.1:c.42A>G, XM_017003371.2:c.42A>C, XM_017003371.2:c.42A>G, XM_017003371.1:c.42A>C, XM_017003371.1:c.42A>G, XM_047443422.1:c.42A>C, XM_047443422.1:c.42A>G

Select item 132193352811.

rs1321933528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:39717186 (GRCh38)
2:39944326 (GRCh37)
Canonical SPDI:: NC_000002.12:39717185:G:A
Gene:: TMEM178A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.39717186G>A, NC_000002.11:g.39944326G>A, NM_152390.3:c.829G>A, NM_152390.2:c.829G>A, NM_001167959.2:c.283G>A, NM_001167959.1:c.283G>A, XM_017003371.2:c.283G>A, XM_017003371.1:c.283G>A, XM_047443422.1:c.283G>A, XM_005264144.1:c.691G>A, XM_005264145.1:c.577G>A, NP_689603.2:p.Ala277Thr, NP_001161431.1:p.Ala95Thr, XP_016858860.1:p.Ala95Thr, XP_047299378.1:p.Ala95Thr, XP_005264201.1:p.Ala231Thr, XP_005264202.1:p.Ala193Thr

Select item 131755412912.

rs1317554129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:39717222 (GRCh38)
2:39944362 (GRCh37)
Canonical SPDI:: NC_000002.12:39717221:C:A
Gene:: TMEM178A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000002.12:g.39717222C>A, NC_000002.11:g.39944362C>A, NM_152390.3:c.865C>A, NM_152390.2:c.865C>A, NM_001167959.2:c.319C>A, NM_001167959.1:c.319C>A, XM_017003371.2:c.319C>A, XM_017003371.1:c.319C>A, XM_047443422.1:c.319C>A, XM_005264144.1:c.727C>A, XM_005264145.1:c.613C>A, NP_689603.2:p.Leu289Ile, NP_001161431.1:p.Leu107Ile, XP_016858860.1:p.Leu107Ile, XP_047299378.1:p.Leu107Ile, XP_005264201.1:p.Leu243Ile, XP_005264202.1:p.Leu205Ile

Select item 131144047813.

rs1311440478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:39707143 (GRCh38)
2:39934283 (GRCh37)
Canonical SPDI:: NC_000002.12:39707142:G:C
Gene:: TMEM178A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39707143G>C, NC_000002.11:g.39934283G>C, NM_152390.3:c.609G>C, NM_152390.2:c.609G>C, XM_017003369.2:c.609G>C, XM_017003369.1:c.609G>C, NM_001167959.2:c.63G>C, NM_001167959.1:c.63G>C, XM_017003371.2:c.63G>C, XM_017003371.1:c.63G>C, XM_047443422.1:c.63G>C, NP_689603.2:p.Glu203Asp, XP_016858858.1:p.Glu203Asp, NP_001161431.1:p.Glu21Asp, XP_016858860.1:p.Glu21Asp, XP_047299378.1:p.Glu21Asp

Select item 127777051814.

rs1277770518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:39717072 (GRCh38)
2:39944212 (GRCh37)
Canonical SPDI:: NC_000002.12:39717071:C:A,NC_000002.12:39717071:C:T
Gene:: TMEM178A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39717072C>A, NC_000002.12:g.39717072C>T, NC_000002.11:g.39944212C>A, NC_000002.11:g.39944212C>T, NM_152390.3:c.715C>A, NM_152390.3:c.715C>T, NM_152390.2:c.715C>A, NM_152390.2:c.715C>T, NM_001167959.2:c.169C>A, NM_001167959.2:c.169C>T, NM_001167959.1:c.169C>A, NM_001167959.1:c.169C>T, XM_017003371.2:c.169C>A, XM_017003371.2:c.169C>T, XM_017003371.1:c.169C>A, XM_017003371.1:c.169C>T, XM_047443422.1:c.169C>A, XM_047443422.1:c.169C>T, XM_005264144.1:c.577C>A, XM_005264144.1:c.577C>T, XM_005264145.1:c.463C>A, XM_005264145.1:c.463C>T, NP_689603.2:p.Leu239Ile, NP_689603.2:p.Leu239Phe, NP_001161431.1:p.Leu57Ile, NP_001161431.1:p.Leu57Phe, XP_016858860.1:p.Leu57Ile, XP_016858860.1:p.Leu57Phe, XP_047299378.1:p.Leu57Ile, XP_047299378.1:p.Leu57Phe, XP_005264201.1:p.Leu193Ile, XP_005264201.1:p.Leu193Phe, XP_005264202.1:p.Leu155Ile, XP_005264202.1:p.Leu155Phe

Select item 126906780115.

rs1269067801 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:39707121 (GRCh38)
2:39934261 (GRCh37)
Canonical SPDI:: NC_000002.12:39707120:C:
Gene:: TMEM178A (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39707121del, NC_000002.11:g.39934261del, NM_152390.3:c.587del, NM_152390.2:c.587del, XM_017003369.2:c.587del, XM_017003369.1:c.587del, NM_001167959.2:c.41del, NM_001167959.1:c.41del, XM_017003371.2:c.41del, XM_017003371.1:c.41del, XM_047443422.1:c.41del, NP_689603.2:p.Thr196fs, XP_016858858.1:p.Thr196fs, NP_001161431.1:p.Thr14fs, XP_016858860.1:p.Thr14fs, XP_047299378.1:p.Thr14fs

Select item 126897318216.

rs1268973182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:39717077 (GRCh38)
2:39944217 (GRCh37)
Canonical SPDI:: NC_000002.12:39717076:A:C
Gene:: TMEM178A (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0022/4 (Korea1K)
HGVS:: NC_000002.12:g.39717077A>C, NC_000002.11:g.39944217A>C, NM_152390.3:c.720A>C, NM_152390.2:c.720A>C, NM_001167959.2:c.174A>C, NM_001167959.1:c.174A>C, XM_017003371.2:c.174A>C, XM_017003371.1:c.174A>C, XM_047443422.1:c.174A>C, XM_005264144.1:c.582A>C, XM_005264145.1:c.468A>C

Select item 123049064117.

rs1230490641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39707142 (GRCh38)
2:39934282 (GRCh37)
Canonical SPDI:: NC_000002.12:39707141:A:G
Gene:: TMEM178A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.39707142A>G, NC_000002.11:g.39934282A>G, NM_152390.3:c.608A>G, NM_152390.2:c.608A>G, XM_017003369.2:c.608A>G, XM_017003369.1:c.608A>G, NM_001167959.2:c.62A>G, NM_001167959.1:c.62A>G, XM_017003371.2:c.62A>G, XM_017003371.1:c.62A>G, XM_047443422.1:c.62A>G, NP_689603.2:p.Glu203Gly, XP_016858858.1:p.Glu203Gly, NP_001161431.1:p.Glu21Gly, XP_016858860.1:p.Glu21Gly, XP_047299378.1:p.Glu21Gly

Select item 123015191618.

rs1230151916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:39717227 (GRCh38)
2:39944367 (GRCh37)
Canonical SPDI:: NC_000002.12:39717226:G:A
Gene:: TMEM178A (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_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_000002.12:g.39717227G>A, NC_000002.11:g.39944367G>A, NM_152390.3:c.870G>A, NM_152390.2:c.870G>A, NM_001167959.2:c.324G>A, NM_001167959.1:c.324G>A, XM_017003371.2:c.324G>A, XM_017003371.1:c.324G>A, XM_047443422.1:c.324G>A, XM_005264144.1:c.732G>A, XM_005264145.1:c.618G>A

Select item 122032584619.

rs1220325846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:39707168 (GRCh38)
2:39934308 (GRCh37)
Canonical SPDI:: NC_000002.12:39707167:C:G
Gene:: TMEM178A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39707168C>G, NC_000002.11:g.39934308C>G, NM_152390.3:c.634C>G, NM_152390.2:c.634C>G, XM_017003369.2:c.634C>G, XM_017003369.1:c.634C>G, NM_001167959.2:c.88C>G, NM_001167959.1:c.88C>G, XM_017003371.2:c.88C>G, XM_017003371.1:c.88C>G, XM_047443422.1:c.88C>G, NP_689603.2:p.Leu212Val, XP_016858858.1:p.Leu212Val, NP_001161431.1:p.Leu30Val, XP_016858860.1:p.Leu30Val, XP_047299378.1:p.Leu30Val

Select item 121291299420.

rs1212912994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 2:39707111 (GRCh38)
2:39934251 (GRCh37)
Canonical SPDI:: NC_000002.12:39707110:A:C,NC_000002.12:39707110:A:G,NC_000002.12:39707110:A:T
Gene:: TMEM178A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.39707111A>C, NC_000002.12:g.39707111A>G, NC_000002.12:g.39707111A>T, NC_000002.11:g.39934251A>C, NC_000002.11:g.39934251A>G, NC_000002.11:g.39934251A>T, NM_152390.3:c.577A>C, NM_152390.3:c.577A>G, NM_152390.3:c.577A>T, NM_152390.2:c.577A>C, NM_152390.2:c.577A>G, NM_152390.2:c.577A>T, XM_017003369.2:c.577A>C, XM_017003369.2:c.577A>G, XM_017003369.2:c.577A>T, XM_017003369.1:c.577A>C, XM_017003369.1:c.577A>G, XM_017003369.1:c.577A>T, NM_001167959.2:c.31A>C, NM_001167959.2:c.31A>G, NM_001167959.2:c.31A>T, NM_001167959.1:c.31A>C, NM_001167959.1:c.31A>G, NM_001167959.1:c.31A>T, XM_017003371.2:c.31A>C, XM_017003371.2:c.31A>G, XM_017003371.2:c.31A>T, XM_017003371.1:c.31A>C, XM_017003371.1:c.31A>G, XM_017003371.1:c.31A>T, XM_047443422.1:c.31A>C, XM_047443422.1:c.31A>G, XM_047443422.1:c.31A>T, NP_689603.2:p.Ile193Leu, NP_689603.2:p.Ile193Val, NP_689603.2:p.Ile193Phe, XP_016858858.1:p.Ile193Leu, XP_016858858.1:p.Ile193Val, XP_016858858.1:p.Ile193Phe, NP_001161431.1:p.Ile11Leu, NP_001161431.1:p.Ile11Val, NP_001161431.1:p.Ile11Phe, XP_016858860.1:p.Ile11Leu, XP_016858860.1:p.Ile11Val, XP_016858860.1:p.Ile11Phe, XP_047299378.1:p.Ile11Leu, XP_047299378.1:p.Ile11Val, XP_047299378.1:p.Ile11Phe

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