SNP Links for Protein (Select 5453918) - SNP

Links from Protein

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Select item 14877278731.

rs1487727873 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:40773958 (GRCh38)
22:41169963 (GRCh37)
Canonical SPDI:: NC_000022.11:40773958:A:AA
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.40773959dup, NC_000022.10:g.41169963dup, NM_006358.4:c.754dup, NM_006358.3:c.754dup, NM_006358.2:c.754dup, NR_104235.2:n.1164dup, NR_104235.1:n.1217dup, NM_001282726.2:c.643dup, NM_001282726.1:c.643dup, NR_104237.2:n.742dup, NR_104237.1:n.795dup, NR_104236.2:n.700dup, NR_104236.1:n.753dup, NM_001282727.2:c.535dup, NM_001282727.1:c.535dup, NR_104238.2:n.572dup, NR_104238.1:n.625dup, NP_006349.1:p.Tyr252fs, NP_001269655.1:p.Tyr215fs, NP_001269656.1:p.Tyr179fs

Select item 14876221532.

rs1487622153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:40770876 (GRCh38)
22:41166880 (GRCh37)
Canonical SPDI:: NC_000022.11:40770875:G:A
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.40770876G>A, NC_000022.10:g.41166880G>A, NM_006358.4:c.882C>T, NM_006358.3:c.882C>T, NM_006358.2:c.882C>T, NR_104235.2:n.1292C>T, NR_104235.1:n.1345C>T, NM_001282726.2:c.771C>T, NM_001282726.1:c.771C>T, NR_104237.2:n.870C>T, NR_104237.1:n.923C>T, NR_104236.2:n.828C>T, NR_104236.1:n.881C>T, NM_001282727.2:c.663C>T, NM_001282727.1:c.663C>T, NR_104238.2:n.700C>T, NR_104238.1:n.753C>T

Select item 14857840443.

rs1485784044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:40779050 (GRCh38)
22:41175054 (GRCh37)
Canonical SPDI:: NC_000022.11:40779049:C:T
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.40779050C>T, NC_000022.10:g.41175054C>T, NM_006358.4:c.410G>A, NM_006358.3:c.410G>A, NM_006358.2:c.410G>A, NR_104235.2:n.820G>A, NR_104235.1:n.873G>A, NM_001282726.2:c.299G>A, NM_001282726.1:c.299G>A, NR_104237.2:n.398G>A, NR_104237.1:n.451G>A, NR_104236.2:n.356G>A, NR_104236.1:n.409G>A, NM_001282727.2:c.191G>A, NM_001282727.1:c.191G>A, NR_104238.2:n.228G>A, NR_104238.1:n.281G>A, NP_006349.1:p.Arg137Lys, NP_001269655.1:p.Arg100Lys, NP_001269656.1:p.Arg64Lys

Select item 14837476414.

rs1483747641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:40792532 (GRCh38)
22:41188536 (GRCh37)
Canonical SPDI:: NC_000022.11:40792531:A:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_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_000022.11:g.40792532A>C, NC_000022.10:g.41188536A>C, NM_006358.4:c.327T>G, NM_006358.3:c.327T>G, NM_006358.2:c.327T>G, NR_104235.2:n.600T>G, NR_104235.1:n.653T>G, NM_001282726.2:c.216T>G, NM_001282726.1:c.216T>G, NR_104237.2:n.315T>G, NR_104237.1:n.368T>G, NP_006349.1:p.Phe109Leu, NP_001269655.1:p.Phe72Leu

Select item 14834943125.

rs1483494312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:40792588 (GRCh38)
22:41188592 (GRCh37)
Canonical SPDI:: NC_000022.11:40792587:C:T
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.40792588C>T, NC_000022.10:g.41188592C>T, NM_006358.4:c.271G>A, NM_006358.3:c.271G>A, NM_006358.2:c.271G>A, NR_104235.2:n.544G>A, NR_104235.1:n.597G>A, NM_001282726.2:c.160G>A, NM_001282726.1:c.160G>A, NR_104237.2:n.259G>A, NR_104237.1:n.312G>A, NP_006349.1:p.Ala91Thr, NP_001269655.1:p.Ala54Thr

Select item 14832552466.

rs1483255246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:40794559 (GRCh38)
22:41190563 (GRCh37)
Canonical SPDI:: NC_000022.11:40794558:T:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.40794559T>C, NC_000022.10:g.41190563T>C, NM_006358.4:c.137A>G, NM_006358.3:c.137A>G, NM_006358.2:c.137A>G, NR_104235.2:n.410A>G, NR_104235.1:n.463A>G, NM_001282726.2:c.26A>G, NM_001282726.1:c.26A>G, NR_104236.2:n.235A>G, NR_104236.1:n.288A>G, NP_006349.1:p.Lys46Arg, NP_001269655.1:p.Lys9Arg

Select item 14818572747.

rs1481857274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:40779047 (GRCh38)
22:41175051 (GRCh37)
Canonical SPDI:: NC_000022.11:40779046:T:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.40779047T>C, NC_000022.10:g.41175051T>C, NM_006358.4:c.413A>G, NM_006358.3:c.413A>G, NM_006358.2:c.413A>G, NR_104235.2:n.823A>G, NR_104235.1:n.876A>G, NM_001282726.2:c.302A>G, NM_001282726.1:c.302A>G, NR_104237.2:n.401A>G, NR_104237.1:n.454A>G, NR_104236.2:n.359A>G, NR_104236.1:n.412A>G, NM_001282727.2:c.194A>G, NM_001282727.1:c.194A>G, NR_104238.2:n.231A>G, NR_104238.1:n.284A>G, NP_006349.1:p.Asn138Ser, NP_001269655.1:p.Asn101Ser, NP_001269656.1:p.Asn65Ser

Select item 14747181598.

rs1474718159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:40794518 (GRCh38)
22:41190522 (GRCh37)
Canonical SPDI:: NC_000022.11:40794517:C:T
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.40794518C>T, NC_000022.10:g.41190522C>T, NM_006358.4:c.178G>A, NM_006358.3:c.178G>A, NM_006358.2:c.178G>A, NR_104235.2:n.451G>A, NR_104235.1:n.504G>A, NM_001282726.2:c.67G>A, NM_001282726.1:c.67G>A, NR_104236.2:n.276G>A, NR_104236.1:n.329G>A, NP_006349.1:p.Gly60Arg, NP_001269655.1:p.Gly23Arg

Select item 14730025789.

rs1473002578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:40777243 (GRCh38)
22:41173247 (GRCh37)
Canonical SPDI:: NC_000022.11:40777242:T:A
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_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_000022.11:g.40777243T>A, NC_000022.10:g.41173247T>A, NM_006358.4:c.582A>T, NM_006358.3:c.582A>T, NM_006358.2:c.582A>T, NR_104235.2:n.992A>T, NR_104235.1:n.1045A>T, NM_001282726.2:c.471A>T, NM_001282726.1:c.471A>T, NR_104237.2:n.570A>T, NR_104237.1:n.623A>T, NR_104236.2:n.528A>T, NR_104236.1:n.581A>T, NM_001282727.2:c.363A>T, NM_001282727.1:c.363A>T, NR_104238.2:n.400A>T, NR_104238.1:n.453A>T, NP_006349.1:p.Leu194Phe, NP_001269655.1:p.Leu157Phe, NP_001269656.1:p.Leu121Phe

Select item 147009827810.

rs1470098278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:40792537 (GRCh38)
22:41188541 (GRCh37)
Canonical SPDI:: NC_000022.11:40792536:C:T
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.40792537C>T, NC_000022.10:g.41188541C>T, NM_006358.4:c.322G>A, NM_006358.3:c.322G>A, NM_006358.2:c.322G>A, NR_104235.2:n.595G>A, NR_104235.1:n.648G>A, NM_001282726.2:c.211G>A, NM_001282726.1:c.211G>A, NR_104237.2:n.310G>A, NR_104237.1:n.363G>A, NP_006349.1:p.Gly108Arg, NP_001269655.1:p.Gly71Arg

Select item 146566719511.

rs1465667195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:40773948 (GRCh38)
22:41169952 (GRCh37)
Canonical SPDI:: NC_000022.11:40773947:G:A
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.40773948G>A, NC_000022.10:g.41169952G>A, NM_006358.4:c.765C>T, NM_006358.3:c.765C>T, NM_006358.2:c.765C>T, NR_104235.2:n.1175C>T, NR_104235.1:n.1228C>T, NM_001282726.2:c.654C>T, NM_001282726.1:c.654C>T, NR_104237.2:n.753C>T, NR_104237.1:n.806C>T, NR_104236.2:n.711C>T, NR_104236.1:n.764C>T, NM_001282727.2:c.546C>T, NM_001282727.1:c.546C>T, NR_104238.2:n.583C>T, NR_104238.1:n.636C>T

Select item 146350451312.

rs1463504513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:40799031 (GRCh38)
22:41195035 (GRCh37)
Canonical SPDI:: NC_000022.11:40799030:C:T
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.40799031C>T, NC_000022.10:g.41195035C>T, NM_006358.4:c.107G>A, NM_006358.3:c.107G>A, NM_006358.2:c.107G>A, NR_104235.2:n.380G>A, NR_104235.1:n.433G>A, NM_001282726.2:c.-58G>A, NM_001282726.1:c.-58G>A, NR_104237.2:n.162G>A, NR_104237.1:n.215G>A, NR_104236.2:n.205G>A, NR_104236.1:n.258G>A, NM_001282727.2:c.107G>A, NM_001282727.1:c.107G>A, NP_006349.1:p.Arg36Gln, NP_001269656.1:p.Arg36Gln

Select item 145545520313.

rs1455455203 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:40794539 (GRCh38)
22:41190543 (GRCh37)
Canonical SPDI:: NC_000022.11:40794538:GG:G
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000022.11:g.40794540del, NC_000022.10:g.41190544del, NM_006358.4:c.157del, NM_006358.3:c.157del, NM_006358.2:c.157del, NR_104235.2:n.430del, NR_104235.1:n.483del, NM_001282726.2:c.46del, NM_001282726.1:c.46del, NR_104236.2:n.255del, NR_104236.1:n.308del, NP_006349.1:p.Leu53fs, NP_001269655.1:p.Leu16fs

Select item 145392277814.

rs1453922778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:40779097 (GRCh38)
22:41175101 (GRCh37)
Canonical SPDI:: NC_000022.11:40779096:T:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.40779097T>C, NC_000022.10:g.41175101T>C, NM_006358.4:c.363A>G, NM_006358.3:c.363A>G, NM_006358.2:c.363A>G, NR_104235.2:n.773A>G, NR_104235.1:n.826A>G, NM_001282726.2:c.252A>G, NM_001282726.1:c.252A>G, NR_104237.2:n.351A>G, NR_104237.1:n.404A>G, NR_104236.2:n.309A>G, NR_104236.1:n.362A>G, NM_001282727.2:c.144A>G, NM_001282727.1:c.144A>G, NR_104238.2:n.181A>G, NR_104238.1:n.234A>G

Select item 145340934715.

rs1453409347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:40819226 (GRCh38)
22:41215230 (GRCh37)
Canonical SPDI:: NC_000022.11:40819225:T:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.40819226T>C, NC_000022.10:g.41215230T>C, NM_006358.4:c.23A>G, NM_006358.3:c.23A>G, NM_006358.2:c.23A>G, NR_104235.2:n.121A>G, NR_104235.1:n.174A>G, NM_001282726.2:c.-142A>G, NM_001282726.1:c.-142A>G, NR_104237.2:n.121A>G, NR_104237.1:n.174A>G, NR_104236.2:n.121A>G, NR_104236.1:n.174A>G, NM_001282727.2:c.23A>G, NM_001282727.1:c.23A>G, NR_104238.2:n.121A>G, NR_104238.1:n.174A>G, NP_006349.1:p.Glu8Gly, NP_001269656.1:p.Glu8Gly

Select item 144580168916.

rs1445801689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:40779040 (GRCh38)
22:41175044 (GRCh37)
Canonical SPDI:: NC_000022.11:40779039:G:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000022.11:g.40779040G>C, NC_000022.10:g.41175044G>C, NM_006358.4:c.420C>G, NM_006358.3:c.420C>G, NM_006358.2:c.420C>G, NR_104235.2:n.830C>G, NR_104235.1:n.883C>G, NM_001282726.2:c.309C>G, NM_001282726.1:c.309C>G, NR_104237.2:n.408C>G, NR_104237.1:n.461C>G, NR_104236.2:n.366C>G, NR_104236.1:n.419C>G, NM_001282727.2:c.201C>G, NM_001282727.1:c.201C>G, NR_104238.2:n.238C>G, NR_104238.1:n.291C>G, NP_006349.1:p.Asp140Glu, NP_001269655.1:p.Asp103Glu, NP_001269656.1:p.Asp67Glu

Select item 144162741617.

rs1441627416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:40819225 (GRCh38)
22:41215229 (GRCh37)
Canonical SPDI:: NC_000022.11:40819224:T:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.40819225T>C, NC_000022.10:g.41215229T>C, NM_006358.4:c.24A>G, NM_006358.3:c.24A>G, NM_006358.2:c.24A>G, NR_104235.2:n.122A>G, NR_104235.1:n.175A>G, NM_001282726.2:c.-141A>G, NM_001282726.1:c.-141A>G, NR_104237.2:n.122A>G, NR_104237.1:n.175A>G, NR_104236.2:n.122A>G, NR_104236.1:n.175A>G, NM_001282727.2:c.24A>G, NM_001282727.1:c.24A>G, NR_104238.2:n.122A>G, NR_104238.1:n.175A>G

Select item 143754819118.

rs1437548191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:40792599 (GRCh38)
22:41188603 (GRCh37)
Canonical SPDI:: NC_000022.11:40792598:T:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.40792599T>C, NC_000022.10:g.41188603T>C, NM_006358.4:c.260A>G, NM_006358.3:c.260A>G, NM_006358.2:c.260A>G, NR_104235.2:n.533A>G, NR_104235.1:n.586A>G, NM_001282726.2:c.149A>G, NM_001282726.1:c.149A>G, NR_104237.2:n.248A>G, NR_104237.1:n.301A>G, NP_006349.1:p.Asn87Ser, NP_001269655.1:p.Asn50Ser

Select item 143517086719.

rs1435170867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:40799043 (GRCh38)
22:41195047 (GRCh37)
Canonical SPDI:: NC_000022.11:40799042:G:A,NC_000022.11:40799042:G:C
Gene:: SLC25A17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.40799043G>A, NC_000022.11:g.40799043G>C, NC_000022.10:g.41195047G>A, NC_000022.10:g.41195047G>C, NM_006358.4:c.95C>T, NM_006358.4:c.95C>G, NM_006358.3:c.95C>T, NM_006358.3:c.95C>G, NM_006358.2:c.95C>T, NM_006358.2:c.95C>G, NR_104235.2:n.368C>T, NR_104235.2:n.368C>G, NR_104235.1:n.421C>T, NR_104235.1:n.421C>G, NM_001282726.2:c.-70C>T, NM_001282726.2:c.-70C>G, NM_001282726.1:c.-70C>T, NM_001282726.1:c.-70C>G, NR_104236.2:n.193C>T, NR_104236.2:n.193C>G, NR_104236.1:n.246C>T, NR_104236.1:n.246C>G, NM_001282727.2:c.95C>T, NM_001282727.2:c.95C>G, NM_001282727.1:c.95C>T, NM_001282727.1:c.95C>G, NP_006349.1:p.Thr32Ile, NP_006349.1:p.Thr32Arg, NP_001269656.1:p.Thr32Ile, NP_001269656.1:p.Thr32Arg

Select item 143393250920.

rs1433932509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:40819202 (GRCh38)
22:41215206 (GRCh37)
Canonical SPDI:: NC_000022.11:40819201:C:G
Gene:: SLC25A17 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.40819202C>G, NC_000022.10:g.41215206C>G, NM_006358.4:c.47G>C, NM_006358.3:c.47G>C, NM_006358.2:c.47G>C, NR_104235.2:n.145G>C, NR_104235.1:n.198G>C, NM_001282726.2:c.-118G>C, NM_001282726.1:c.-118G>C, NR_104237.2:n.145G>C, NR_104237.1:n.198G>C, NR_104236.2:n.145G>C, NR_104236.1:n.198G>C, NM_001282727.2:c.47G>C, NM_001282727.1:c.47G>C, NR_104238.2:n.145G>C, NR_104238.1:n.198G>C, NP_006349.1:p.Gly16Ala, NP_001269656.1:p.Gly16Ala

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