SNP Links for Protein (Select 50511934) - SNP

Links from Protein

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Select item 14881507321.

rs1488150732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176647701 (GRCh38)
5:176074702 (GRCh37)
Canonical SPDI:: NC_000005.10:176647700:G:A
Gene:: TSPAN17 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000005.10:g.176647701G>A, NC_000005.9:g.176074702G>A, NG_034043.2:g.5315G>A, NM_130465.5:c.86G>A, NM_130465.4:c.86G>A, NM_012171.3:c.86G>A, NM_012171.2:c.86G>A, NM_001006616.3:c.86G>A, NM_001006616.2:c.86G>A, NM_001366491.2:c.86G>A, NM_001366491.1:c.86G>A, NM_001366492.2:c.86G>A, NM_001366492.1:c.86G>A, NP_569732.2:p.Trp29Ter, NP_036303.1:p.Trp29Ter, NP_001006617.2:p.Trp29Ter, NP_001353420.1:p.Trp29Ter, NP_001353421.1:p.Trp29Ter

Select item 14871661952.

rs1487166195 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:176651784 (GRCh38)
5:176078785 (GRCh37)
Canonical SPDI:: NC_000005.10:176651782:AGA:A
Gene:: TSPAN17 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.176651784_176651785del, NC_000005.9:g.176078785_176078786del, NG_034043.2:g.9398_9399del, NM_130465.5:c.169_170del, NM_130465.4:c.169_170del, NM_012171.3:c.169_170del, NM_012171.2:c.169_170del, NM_001006616.3:c.169_170del, NM_001006616.2:c.169_170del, NM_001366491.2:c.169_170del, NM_001366491.1:c.169_170del, NP_569732.2:p.Asp57fs, NP_036303.1:p.Asp57fs, NP_001006617.2:p.Asp57fs, NP_001353420.1:p.Asp57fs

Select item 14827915583.

rs1482791558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176655011 (GRCh38)
5:176082012 (GRCh37)
Canonical SPDI:: NC_000005.10:176655010:G:A
Gene:: TSPAN17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.176655011G>A, NC_000005.9:g.176082012G>A, NG_034043.2:g.12625G>A, NM_130465.5:c.573G>A, NM_130465.4:c.573G>A, NM_012171.3:c.573G>A, NM_012171.2:c.573G>A, NM_001006616.3:c.573G>A, NM_001006616.2:c.573G>A, NM_001366491.2:c.573G>A, NM_001366491.1:c.573G>A, NM_001366492.2:c.375G>A, NM_001366492.1:c.375G>A

Select item 14824040724.

rs1482404072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:176652760 (GRCh38)
5:176079761 (GRCh37)
Canonical SPDI:: NC_000005.10:176652759:T:G
Gene:: TSPAN17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.176652760T>G, NC_000005.9:g.176079761T>G, NG_034043.2:g.10374T>G, NM_130465.5:c.303T>G, NM_130465.4:c.303T>G, NM_012171.3:c.303T>G, NM_012171.2:c.303T>G, NM_001006616.3:c.303T>G, NM_001006616.2:c.303T>G, NM_001366491.2:c.303T>G, NM_001366491.1:c.303T>G, NM_001366492.2:c.105T>G, NM_001366492.1:c.105T>G

Select item 14806563975.

rs1480656397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:176651884 (GRCh38)
5:176078885 (GRCh37)
Canonical SPDI:: NC_000005.10:176651883:C:A,NC_000005.10:176651883:C:T
Gene:: TSPAN17 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.176651884C>A, NC_000005.10:g.176651884C>T, NC_000005.9:g.176078885C>A, NC_000005.9:g.176078885C>T, NG_034043.2:g.9498C>A, NG_034043.2:g.9498C>T, NM_130465.5:c.269C>A, NM_130465.5:c.269C>T, NM_130465.4:c.269C>A, NM_130465.4:c.269C>T, NM_012171.3:c.269C>A, NM_012171.3:c.269C>T, NM_012171.2:c.269C>A, NM_012171.2:c.269C>T, NM_001006616.3:c.269C>A, NM_001006616.3:c.269C>T, NM_001006616.2:c.269C>A, NM_001006616.2:c.269C>T, NM_001366491.2:c.269C>A, NM_001366491.2:c.269C>T, NM_001366491.1:c.269C>A, NM_001366491.1:c.269C>T, NP_569732.2:p.Thr90Asn, NP_569732.2:p.Thr90Ile, NP_036303.1:p.Thr90Asn, NP_036303.1:p.Thr90Ile, NP_001006617.2:p.Thr90Asn, NP_001006617.2:p.Thr90Ile, NP_001353420.1:p.Thr90Asn, NP_001353420.1:p.Thr90Ile

Select item 14784398656.

rs1478439865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:176656727 (GRCh38)
5:176083728 (GRCh37)
Canonical SPDI:: NC_000005.10:176656726:A:T
Gene:: TSPAN17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000102/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.176656727A>T, NC_000005.9:g.176083728A>T, NG_034043.2:g.14341A>T, NM_130465.5:c.658A>T, NM_130465.4:c.658A>T, NM_012171.3:c.667A>T, NM_012171.2:c.667A>T, NM_001006616.3:c.658A>T, NM_001006616.2:c.658A>T, NM_001366491.2:c.658A>T, NM_001366491.1:c.658A>T, NM_001366492.2:c.460A>T, NM_001366492.1:c.460A>T, NP_569732.2:p.Thr220Ser, NP_036303.1:p.Thr223Ser, NP_001006617.2:p.Thr220Ser, NP_001353420.1:p.Thr220Ser, NP_001353421.1:p.Thr154Ser

Select item 14777989027.

rs1477798902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:176652899 (GRCh38)
5:176079900 (GRCh37)
Canonical SPDI:: NC_000005.10:176652898:T:G
Gene:: TSPAN17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.176652899T>G, NC_000005.9:g.176079900T>G, NG_034043.2:g.10513T>G, NM_130465.5:c.442T>G, NM_130465.4:c.442T>G, NM_012171.3:c.442T>G, NM_012171.2:c.442T>G, NM_001006616.3:c.442T>G, NM_001006616.2:c.442T>G, NM_001366491.2:c.442T>G, NM_001366491.1:c.442T>G, NM_001366492.2:c.244T>G, NM_001366492.1:c.244T>G, NP_569732.2:p.Phe148Val, NP_036303.1:p.Phe148Val, NP_001006617.2:p.Phe148Val, NP_001353420.1:p.Phe148Val, NP_001353421.1:p.Phe82Val

Select item 14777472778.

rs1477747277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:176647639 (GRCh38)
5:176074640 (GRCh37)
Canonical SPDI:: NC_000005.10:176647638:C:T
Gene:: TSPAN17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.176647639C>T, NC_000005.9:g.176074640C>T, NG_034043.2:g.5253C>T, NM_130465.5:c.24C>T, NM_130465.4:c.24C>T, NM_012171.3:c.24C>T, NM_012171.2:c.24C>T, NM_001006616.3:c.24C>T, NM_001006616.2:c.24C>T, NM_001366491.2:c.24C>T, NM_001366491.1:c.24C>T, NM_001366492.2:c.24C>T, NM_001366492.1:c.24C>T

Select item 14776984459.

rs1477698445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176652776 (GRCh38)
5:176079777 (GRCh37)
Canonical SPDI:: NC_000005.10:176652775:G:A
Gene:: TSPAN17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.176652776G>A, NC_000005.9:g.176079777G>A, NG_034043.2:g.10390G>A, NM_130465.5:c.319G>A, NM_130465.4:c.319G>A, NM_012171.3:c.319G>A, NM_012171.2:c.319G>A, NM_001006616.3:c.319G>A, NM_001006616.2:c.319G>A, NM_001366491.2:c.319G>A, NM_001366491.1:c.319G>A, NM_001366492.2:c.121G>A, NM_001366492.1:c.121G>A, NP_569732.2:p.Glu107Lys, NP_036303.1:p.Glu107Lys, NP_001006617.2:p.Glu107Lys, NP_001353420.1:p.Glu107Lys, NP_001353421.1:p.Glu41Lys

Select item 147680148510.

rs1476801485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:176655016 (GRCh38)
5:176082017 (GRCh37)
Canonical SPDI:: NC_000005.10:176655015:C:G
Gene:: TSPAN17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.176655016C>G, NC_000005.9:g.176082017C>G, NG_034043.2:g.12630C>G, NM_130465.5:c.578C>G, NM_130465.4:c.578C>G, NM_012171.3:c.578C>G, NM_012171.2:c.578C>G, NM_001006616.3:c.578C>G, NM_001006616.2:c.578C>G, NM_001366491.2:c.578C>G, NM_001366491.1:c.578C>G, NM_001366492.2:c.380C>G, NM_001366492.1:c.380C>G, NP_569732.2:p.Pro193Arg, NP_036303.1:p.Pro193Arg, NP_001006617.2:p.Pro193Arg, NP_001353420.1:p.Pro193Arg, NP_001353421.1:p.Pro127Arg

Select item 147598754911.

rs1475987549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:176652759 (GRCh38)
5:176079760 (GRCh37)
Canonical SPDI:: NC_000005.10:176652758:G:T
Gene:: TSPAN17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.176652759G>T, NC_000005.9:g.176079760G>T, NG_034043.2:g.10373G>T, NM_130465.5:c.302G>T, NM_130465.4:c.302G>T, NM_012171.3:c.302G>T, NM_012171.2:c.302G>T, NM_001006616.3:c.302G>T, NM_001006616.2:c.302G>T, NM_001366491.2:c.302G>T, NM_001366491.1:c.302G>T, NM_001366492.2:c.104G>T, NM_001366492.1:c.104G>T, NP_569732.2:p.Gly101Val, NP_036303.1:p.Gly101Val, NP_001006617.2:p.Gly101Val, NP_001353420.1:p.Gly101Val, NP_001353421.1:p.Gly35Val

Select item 146655967012.

rs1466559670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:176652788 (GRCh38)
5:176079789 (GRCh37)
Canonical SPDI:: NC_000005.10:176652787:G:C
Gene:: TSPAN17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.176652788G>C, NC_000005.9:g.176079789G>C, NG_034043.2:g.10402G>C, NM_130465.5:c.331G>C, NM_130465.4:c.331G>C, NM_012171.3:c.331G>C, NM_012171.2:c.331G>C, NM_001006616.3:c.331G>C, NM_001006616.2:c.331G>C, NM_001366491.2:c.331G>C, NM_001366491.1:c.331G>C, NM_001366492.2:c.133G>C, NM_001366492.1:c.133G>C, NP_569732.2:p.Gly111Arg, NP_036303.1:p.Gly111Arg, NP_001006617.2:p.Gly111Arg, NP_001353420.1:p.Gly111Arg, NP_001353421.1:p.Gly45Arg

Select item 146515077913.

rs1465150779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176652822 (GRCh38)
5:176079823 (GRCh37)
Canonical SPDI:: NC_000005.10:176652821:G:A
Gene:: TSPAN17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.176652822G>A, NC_000005.9:g.176079823G>A, NG_034043.2:g.10436G>A, NM_130465.5:c.365G>A, NM_130465.4:c.365G>A, NM_012171.3:c.365G>A, NM_012171.2:c.365G>A, NM_001006616.3:c.365G>A, NM_001006616.2:c.365G>A, NM_001366491.2:c.365G>A, NM_001366491.1:c.365G>A, NM_001366492.2:c.167G>A, NM_001366492.1:c.167G>A, NP_569732.2:p.Arg122Gln, NP_036303.1:p.Arg122Gln, NP_001006617.2:p.Arg122Gln, NP_001353420.1:p.Arg122Gln, NP_001353421.1:p.Arg56Gln

Select item 146432458614.

rs1464324586 has merged into rs1412993551 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACAAC>-,AAC [Show Flanks]
Chromosome:: 5:176652848 (GRCh38)
5:176079849 (GRCh37)
Canonical SPDI:: NC_000005.10:176652843:CAACAACAAC:CAAC,NC_000005.10:176652843:CAACAACAAC:CAACAAC
Gene:: TSPAN17 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CAAC=0.000043/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.176652845AAC[1], NC_000005.10:g.176652845AAC[2], NC_000005.9:g.176079846AAC[1], NC_000005.9:g.176079846AAC[2], NG_034043.2:g.10459AAC[1], NG_034043.2:g.10459AAC[2], NM_130465.5:c.388AAC[1], NM_130465.5:c.388AAC[2], NM_130465.4:c.388AAC[1], NM_130465.4:c.388AAC[2], NM_012171.3:c.388AAC[1], NM_012171.3:c.388AAC[2], NM_012171.2:c.388AAC[1], NM_012171.2:c.388AAC[2], NM_001006616.3:c.388AAC[1], NM_001006616.3:c.388AAC[2], NM_001006616.2:c.388AAC[1], NM_001006616.2:c.388AAC[2], NM_001366491.2:c.388AAC[1], NM_001366491.2:c.388AAC[2], NM_001366491.1:c.388AAC[1], NM_001366491.1:c.388AAC[2], NM_001366492.2:c.190AAC[1], NM_001366492.2:c.190AAC[2], NM_001366492.1:c.190AAC[1], NM_001366492.1:c.190AAC[2], NP_569732.2:p.Asn131_Asn132del, NP_569732.2:p.Asn132del, NP_036303.1:p.Asn131_Asn132del, NP_036303.1:p.Asn132del, NP_001006617.2:p.Asn131_Asn132del, NP_001006617.2:p.Asn132del, NP_001353420.1:p.Asn131_Asn132del, NP_001353420.1:p.Asn132del, NP_001353421.1:p.Asn65_Asn66del, NP_001353421.1:p.Asn66del

Select item 146400599415.

rs1464005994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176651663 (GRCh38)
5:176078664 (GRCh37)
Canonical SPDI:: NC_000005.10:176651662:G:A
Gene:: TSPAN17 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.176651663G>A, NC_000005.9:g.176078664G>A, NG_034043.2:g.9277G>A, NM_130465.5:c.135G>A, NM_130465.4:c.135G>A, NM_012171.3:c.135G>A, NM_012171.2:c.135G>A, NM_001006616.3:c.135G>A, NM_001006616.2:c.135G>A, NM_001366491.2:c.135G>A, NM_001366491.1:c.135G>A

Select item 146312052216.

rs1463120522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:176657698 (GRCh38)
5:176084699 (GRCh37)
Canonical SPDI:: NC_000005.10:176657697:G:T
Gene:: TSPAN17 (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_lost,terminator_codon_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.176657698G>T, NC_000005.9:g.176084699G>T, NG_034043.2:g.15312G>T, NM_130465.5:c.990G>T, NM_130465.4:c.990G>T, NM_012171.3:c.999G>T, NM_012171.2:c.999G>T, NM_001006616.3:c.*166G>T, NM_001006616.2:c.*166G>T, NM_001366491.2:c.1068G>T, NM_001366491.1:c.1068G>T, NM_001366492.2:c.792G>T, NM_001366492.1:c.792G>T, NP_569732.2:p.Ter330Tyr, NP_036303.1:p.Ter333Tyr, NP_001353420.1:p.Ter356Tyr, NP_001353421.1:p.Ter264Tyr

Select item 146189701217.

rs1461897012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:176651624 (GRCh38)
5:176078625 (GRCh37)
Canonical SPDI:: NC_000005.10:176651623:A:G
Gene:: TSPAN17 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00005/1 (ALFA)
G=0.00011/3 (TOMMO)
HGVS:: NC_000005.10:g.176651624A>G, NC_000005.9:g.176078625A>G, NG_034043.2:g.9238A>G, NM_130465.5:c.96A>G, NM_130465.4:c.96A>G, NM_012171.3:c.96A>G, NM_012171.2:c.96A>G, NM_001006616.3:c.96A>G, NM_001006616.2:c.96A>G, NM_001366491.2:c.96A>G, NM_001366491.1:c.96A>G, NG_053856.1:g.1994A>G

Select item 145926452018.

rs1459264520 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:176656938 (GRCh38)
5:176083939 (GRCh37)
Canonical SPDI:: NC_000005.10:176656937:A:T
Gene:: TSPAN17 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.176656938A>T, NC_000005.9:g.176083939A>T, NG_034043.2:g.14552A>T, NM_130465.5:c.791A>T, NM_130465.4:c.791A>T, NM_012171.3:c.800A>T, NM_012171.2:c.800A>T, NM_001366491.2:c.869A>T, NM_001366491.1:c.869A>T, NM_001366492.2:c.593A>T, NM_001366492.1:c.593A>T, NP_569732.2:p.Lys264Met, NP_036303.1:p.Lys267Met, NP_001353420.1:p.Lys290Met, NP_001353421.1:p.Lys198Met

Select item 144543328119.

rs1445433281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176652867 (GRCh38)
5:176079868 (GRCh37)
Canonical SPDI:: NC_000005.10:176652866:G:A
Gene:: TSPAN17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.176652867G>A, NC_000005.9:g.176079868G>A, NG_034043.2:g.10481G>A, NM_130465.5:c.410G>A, NM_130465.4:c.410G>A, NM_012171.3:c.410G>A, NM_012171.2:c.410G>A, NM_001006616.3:c.410G>A, NM_001006616.2:c.410G>A, NM_001366491.2:c.410G>A, NM_001366491.1:c.410G>A, NM_001366492.2:c.212G>A, NM_001366492.1:c.212G>A, NP_569732.2:p.Arg137Gln, NP_036303.1:p.Arg137Gln, NP_001006617.2:p.Arg137Gln, NP_001353420.1:p.Arg137Gln, NP_001353421.1:p.Arg71Gln

Select item 144482385620.

rs1444823856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176656100 (GRCh38)
5:176083101 (GRCh37)
Canonical SPDI:: NC_000005.10:176656099:G:A
Gene:: TSPAN17 (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_000005.10:g.176656100G>A, NC_000005.9:g.176083101G>A, NG_034043.2:g.13714G>A, NM_130465.5:c.605G>A, NM_130465.4:c.605G>A, NM_012171.3:c.605G>A, NM_012171.2:c.605G>A, NM_001006616.3:c.605G>A, NM_001006616.2:c.605G>A, NM_001366491.2:c.605G>A, NM_001366491.1:c.605G>A, NM_001366492.2:c.407G>A, NM_001366492.1:c.407G>A, NP_569732.2:p.Cys202Tyr, NP_036303.1:p.Cys202Tyr, NP_001006617.2:p.Cys202Tyr, NP_001353420.1:p.Cys202Tyr, NP_001353421.1:p.Cys136Tyr

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