SNP Links for Protein (Select 194097369) - SNP

Links from Protein

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Select item 14890700711.

rs1489070071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43175336 (GRCh38)
19:43679488 (GRCh37)
Canonical SPDI:: NC_000019.10:43175335:T:C
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43175336T>C, NC_000019.9:g.43679488T>C, NM_002781.4:c.843A>G, NM_002781.3:c.843A>G, XM_017027003.2:c.843A>G, XM_017027003.1:c.843A>G, NM_001130014.2:c.843A>G, NM_001130014.1:c.843A>G

Select item 14869008862.

rs1486900886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43175982 (GRCh38)
19:43680134 (GRCh37)
Canonical SPDI:: NC_000019.10:43175981:G:A
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.43175982G>A, NC_000019.9:g.43680134G>A, NM_002781.4:c.597C>T, NM_002781.3:c.597C>T, XM_017027003.2:c.597C>T, XM_017027003.1:c.597C>T, NM_001130014.2:c.597C>T, NM_001130014.1:c.597C>T

Select item 14866432493.

rs1486643249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43175292 (GRCh38)
19:43679444 (GRCh37)
Canonical SPDI:: NC_000019.10:43175291:C:T
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.43175292C>T, NC_000019.9:g.43679444C>T, NM_002781.4:c.887G>A, NM_002781.3:c.887G>A, XM_017027003.2:c.887G>A, XM_017027003.1:c.887G>A, NM_001130014.2:c.887G>A, NM_001130014.1:c.887G>A, NP_002772.3:p.Arg296Lys, XP_016882492.1:p.Arg296Lys, NP_001123486.1:p.Arg296Lys

Select item 14853496684.

rs1485349668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:43175400 (GRCh38)
19:43679552 (GRCh37)
Canonical SPDI:: NC_000019.10:43175399:G:A,NC_000019.10:43175399:G:C
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43175400G>A, NC_000019.10:g.43175400G>C, NC_000019.9:g.43679552G>A, NC_000019.9:g.43679552G>C, NM_002781.4:c.779C>T, NM_002781.4:c.779C>G, NM_002781.3:c.779C>T, NM_002781.3:c.779C>G, XM_017027003.2:c.779C>T, XM_017027003.2:c.779C>G, XM_017027003.1:c.779C>T, XM_017027003.1:c.779C>G, NM_001130014.2:c.779C>T, NM_001130014.2:c.779C>G, NM_001130014.1:c.779C>T, NM_001130014.1:c.779C>G, NP_002772.3:p.Ser260Phe, NP_002772.3:p.Ser260Cys, XP_016882492.1:p.Ser260Phe, XP_016882492.1:p.Ser260Cys, NP_001123486.1:p.Ser260Phe, NP_001123486.1:p.Ser260Cys

Select item 14834814535.

rs1483481453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 19:43175232 (GRCh38)
19:43679384 (GRCh37)
Canonical SPDI:: NC_000019.10:43175231:A:C,NC_000019.10:43175231:A:G,NC_000019.10:43175231:A:T
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43175232A>C, NC_000019.10:g.43175232A>G, NC_000019.10:g.43175232A>T, NC_000019.9:g.43679384A>C, NC_000019.9:g.43679384A>G, NC_000019.9:g.43679384A>T, NM_002781.4:c.947T>G, NM_002781.4:c.947T>C, NM_002781.4:c.947T>A, NM_002781.3:c.947T>G, NM_002781.3:c.947T>C, NM_002781.3:c.947T>A, XM_017027003.2:c.947T>G, XM_017027003.2:c.947T>C, XM_017027003.2:c.947T>A, XM_017027003.1:c.947T>G, XM_017027003.1:c.947T>C, XM_017027003.1:c.947T>A, NM_001130014.2:c.947T>G, NM_001130014.2:c.947T>C, NM_001130014.2:c.947T>A, NM_001130014.1:c.947T>G, NM_001130014.1:c.947T>C, NM_001130014.1:c.947T>A, NP_002772.3:p.Met316Arg, NP_002772.3:p.Met316Thr, NP_002772.3:p.Met316Lys, XP_016882492.1:p.Met316Arg, XP_016882492.1:p.Met316Thr, XP_016882492.1:p.Met316Lys, NP_001123486.1:p.Met316Arg, NP_001123486.1:p.Met316Thr, NP_001123486.1:p.Met316Lys

Select item 14831947726.

rs1483194772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43184911 (GRCh38)
19:43689063 (GRCh37)
Canonical SPDI:: NC_000019.10:43184910:C:T
Gene:: PSG5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.43184911C>T, NC_000019.9:g.43689063C>T, NM_002781.4:c.301G>A, NM_002781.3:c.301G>A, XM_011527132.4:c.301G>A, XM_011527132.3:c.301G>A, XM_011527132.2:c.301G>A, XM_011527132.1:c.301G>A, XM_017027003.2:c.301G>A, XM_017027003.1:c.301G>A, NM_001130014.2:c.301G>A, NM_001130014.1:c.301G>A, NP_002772.3:p.Val101Ile, XP_011525434.1:p.Val101Ile, XP_016882492.1:p.Val101Ile, NP_001123486.1:p.Val101Ile

Select item 14828363157.

rs1482836315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:43185144 (GRCh38)
19:43689296 (GRCh37)
Canonical SPDI:: NC_000019.10:43185143:G:A,NC_000019.10:43185143:G:T
Gene:: PSG5 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000212/4 (TOMMO)
HGVS:: NC_000019.10:g.43185144G>A, NC_000019.10:g.43185144G>T, NC_000019.9:g.43689296G>A, NC_000019.9:g.43689296G>T, NM_002781.4:c.68C>T, NM_002781.4:c.68C>A, NM_002781.3:c.68C>T, NM_002781.3:c.68C>A, XM_011527132.4:c.68C>T, XM_011527132.4:c.68C>A, XM_011527132.3:c.68C>T, XM_011527132.3:c.68C>A, XM_011527132.2:c.68C>T, XM_011527132.2:c.68C>A, XM_011527132.1:c.68C>T, XM_011527132.1:c.68C>A, XM_017027003.2:c.68C>T, XM_017027003.2:c.68C>A, XM_017027003.1:c.68C>T, XM_017027003.1:c.68C>A, NM_001130014.2:c.68C>T, NM_001130014.2:c.68C>A, NM_001130014.1:c.68C>T, NM_001130014.1:c.68C>A, NP_002772.3:p.Ser23Leu, NP_002772.3:p.Ser23Ter, XP_011525434.1:p.Ser23Leu, XP_011525434.1:p.Ser23Ter, XP_016882492.1:p.Ser23Leu, XP_016882492.1:p.Ser23Ter, NP_001123486.1:p.Ser23Leu, NP_001123486.1:p.Ser23Ter

Select item 14818783978.

rs1481878397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:43176105 (GRCh38)
19:43680257 (GRCh37)
Canonical SPDI:: NC_000019.10:43176104:G:A,NC_000019.10:43176104:G:T
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.43176105G>A, NC_000019.10:g.43176105G>T, NC_000019.9:g.43680257G>A, NC_000019.9:g.43680257G>T, NM_002781.4:c.474C>T, NM_002781.4:c.474C>A, NM_002781.3:c.474C>T, NM_002781.3:c.474C>A, XM_017027003.2:c.474C>T, XM_017027003.2:c.474C>A, XM_017027003.1:c.474C>T, XM_017027003.1:c.474C>A, NM_001130014.2:c.474C>T, NM_001130014.2:c.474C>A, NM_001130014.1:c.474C>T, NM_001130014.1:c.474C>A

Select item 14765449109.

rs1476544910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:43185094 (GRCh38)
19:43689246 (GRCh37)
Canonical SPDI:: NC_000019.10:43185093:C:G
Gene:: PSG5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43185094C>G, NC_000019.9:g.43689246C>G, NM_002781.4:c.118G>C, NM_002781.3:c.118G>C, XM_011527132.4:c.118G>C, XM_011527132.3:c.118G>C, XM_011527132.2:c.118G>C, XM_011527132.1:c.118G>C, XM_017027003.2:c.118G>C, XM_017027003.1:c.118G>C, NM_001130014.2:c.118G>C, NM_001130014.1:c.118G>C, NP_002772.3:p.Ala40Pro, XP_011525434.1:p.Ala40Pro, XP_016882492.1:p.Ala40Pro, NP_001123486.1:p.Ala40Pro

Select item 147650208210.

rs1476502082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:43176021 (GRCh38)
19:43680173 (GRCh37)
Canonical SPDI:: NC_000019.10:43176020:G:C
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.43176021G>C, NC_000019.9:g.43680173G>C, NM_002781.4:c.558C>G, NM_002781.3:c.558C>G, XM_017027003.2:c.558C>G, XM_017027003.1:c.558C>G, NM_001130014.2:c.558C>G, NM_001130014.1:c.558C>G, NP_002772.3:p.Ser186Arg, XP_016882492.1:p.Ser186Arg, NP_001123486.1:p.Ser186Arg

Select item 147338214911.

rs1473382149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:43184922 (GRCh38)
19:43689074 (GRCh37)
Canonical SPDI:: NC_000019.10:43184921:C:G
Gene:: PSG5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43184922C>G, NC_000019.9:g.43689074C>G, NM_002781.4:c.290G>C, NM_002781.3:c.290G>C, XM_011527132.4:c.290G>C, XM_011527132.3:c.290G>C, XM_011527132.2:c.290G>C, XM_011527132.1:c.290G>C, XM_017027003.2:c.290G>C, XM_017027003.1:c.290G>C, NM_001130014.2:c.290G>C, NM_001130014.1:c.290G>C, NP_002772.3:p.Gly97Ala, XP_011525434.1:p.Gly97Ala, XP_016882492.1:p.Gly97Ala, NP_001123486.1:p.Gly97Ala

Select item 147023047512.

rs1470230475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:43184958 (GRCh38)
19:43689110 (GRCh37)
Canonical SPDI:: NC_000019.10:43184957:T:A
Gene:: PSG5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43184958T>A, NC_000019.9:g.43689110T>A, NM_002781.4:c.254A>T, NM_002781.3:c.254A>T, XM_011527132.4:c.254A>T, XM_011527132.3:c.254A>T, XM_011527132.2:c.254A>T, XM_011527132.1:c.254A>T, XM_017027003.2:c.254A>T, XM_017027003.1:c.254A>T, NM_001130014.2:c.254A>T, NM_001130014.1:c.254A>T, NP_002772.3:p.Asp85Val, XP_011525434.1:p.Asp85Val, XP_016882492.1:p.Asp85Val, NP_001123486.1:p.Asp85Val

Select item 146758629613.

rs1467586296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43170098 (GRCh38)
19:43674250 (GRCh37)
Canonical SPDI:: NC_000019.10:43170097:T:C
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: non_coding_transcript_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_000019.10:g.43170098T>C, NC_000019.9:g.43674250T>C, NM_002781.4:c.1005A>G, NM_002781.3:c.1005A>G, XR_001754099.3:n.1005T>C, XR_001754099.2:n.1005T>C, XR_001754100.3:n.510T>C, XR_001754100.2:n.531T>C, XM_017027003.2:c.1005A>G, XM_017027003.1:c.1005A>G, NM_001130014.2:c.1005A>G, NM_001130014.1:c.1005A>G, XR_007067262.1:n.1005T>C, NP_002772.3:p.Ile335Met, XP_016882492.1:p.Ile335Met, NP_001123486.1:p.Ile335Met

Select item 146585831714.

rs1465858317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43184890 (GRCh38)
19:43689042 (GRCh37)
Canonical SPDI:: NC_000019.10:43184889:G:A
Gene:: PSG5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.43184890G>A, NC_000019.9:g.43689042G>A, NM_002781.4:c.322C>T, NM_002781.3:c.322C>T, XM_011527132.4:c.322C>T, XM_011527132.3:c.322C>T, XM_011527132.2:c.322C>T, XM_011527132.1:c.322C>T, XM_017027003.2:c.322C>T, XM_017027003.1:c.322C>T, NM_001130014.2:c.322C>T, NM_001130014.1:c.322C>T

Select item 146409345015.

rs1464093450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43185034 (GRCh38)
19:43689186 (GRCh37)
Canonical SPDI:: NC_000019.10:43185033:G:A
Gene:: PSG5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.43185034G>A, NC_000019.9:g.43689186G>A, NM_002781.4:c.178C>T, NM_002781.3:c.178C>T, XM_011527132.4:c.178C>T, XM_011527132.3:c.178C>T, XM_011527132.2:c.178C>T, XM_011527132.1:c.178C>T, XM_017027003.2:c.178C>T, XM_017027003.1:c.178C>T, NM_001130014.2:c.178C>T, NM_001130014.1:c.178C>T, NP_002772.3:p.Gln60Ter, XP_011525434.1:p.Gln60Ter, XP_016882492.1:p.Gln60Ter, NP_001123486.1:p.Gln60Ter

Select item 146238667516.

rs1462386675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:43175443 (GRCh38)
19:43679595 (GRCh37)
Canonical SPDI:: NC_000019.10:43175442:G:T
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000019.10:g.43175443G>T, NC_000019.9:g.43679595G>T, NM_002781.4:c.736C>A, NM_002781.3:c.736C>A, XM_017027003.2:c.736C>A, XM_017027003.1:c.736C>A, NM_001130014.2:c.736C>A, NM_001130014.1:c.736C>A, NP_002772.3:p.Pro246Thr, XP_016882492.1:p.Pro246Thr, NP_001123486.1:p.Pro246Thr

Select item 146109545717.

rs1461095457 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATAA [Show Flanks]
Chromosome:: 19:43176077 (GRCh38)
19:43680230 (GRCh37)
Canonical SPDI:: NC_000019.10:43176077::TATAA
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,inframe_indel,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TATAA=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43176077_43176078insTATAA, NC_000019.9:g.43680229_43680230insTATAA, NM_002781.4:c.501_502insTTATA, NM_002781.3:c.501_502insTTATA, XM_017027003.2:c.501_502insTTATA, XM_017027003.1:c.501_502insTTATA, NM_001130014.2:c.501_502insTTATA, NM_001130014.1:c.501_502insTTATA, NP_002772.3:p.Thr168delinsLeuTer, XP_016882492.1:p.Thr168delinsLeuTer, NP_001123486.1:p.Thr168delinsLeuTer

Select item 145743232818.

rs1457432328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43175902 (GRCh38)
19:43680054 (GRCh37)
Canonical SPDI:: NC_000019.10:43175901:A:G
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43175902A>G, NC_000019.9:g.43680054A>G, NM_002781.4:c.677T>C, NM_002781.3:c.677T>C, XM_017027003.2:c.677T>C, XM_017027003.1:c.677T>C, NM_001130014.2:c.677T>C, NM_001130014.1:c.677T>C, NP_002772.3:p.Met226Thr, XP_016882492.1:p.Met226Thr, NP_001123486.1:p.Met226Thr

Select item 145630640519.

rs1456306405 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:43176129 (GRCh38)
19:43680281 (GRCh37)
Canonical SPDI:: NC_000019.10:43176128:G:
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: stop_gained,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43176129del, NC_000019.9:g.43680281del, NM_002781.4:c.450del, NM_002781.3:c.450del, XM_017027003.2:c.450del, XM_017027003.1:c.450del, NM_001130014.2:c.450del, NM_001130014.1:c.450del, NP_002772.3:p.Pro149_Tyr150insTer, XP_016882492.1:p.Pro149_Tyr150insTer, NP_001123486.1:p.Pro149_Tyr150insTer

Select item 145607657320.

rs1456076573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:43170123 (GRCh38)
19:43674275 (GRCh37)
Canonical SPDI:: NC_000019.10:43170122:C:A
Gene:: PSG5 (Varview), LOC107985349 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000019.10:g.43170123C>A, NC_000019.9:g.43674275C>A, NM_002781.4:c.980G>T, NM_002781.3:c.980G>T, XR_001754099.3:n.1030C>A, XR_001754099.2:n.1030C>A, XR_001754100.3:n.535C>A, XR_001754100.2:n.556C>A, XM_017027003.2:c.980G>T, XM_017027003.1:c.980G>T, NM_001130014.2:c.980G>T, NM_001130014.1:c.980G>T, XR_007067262.1:n.1030C>A, NP_002772.3:p.Gly327Val, XP_016882492.1:p.Gly327Val, NP_001123486.1:p.Gly327Val

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