SNP Links for Protein (Select 530424288) - SNP

Links from Protein

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Select item 14904213011.

rs1490421301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:87924155 (GRCh38)
16:87957761 (GRCh37)
Canonical SPDI:: NC_000016.10:87924154:C:G,NC_000016.10:87924154:C:T
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.87924155C>G, NC_000016.10:g.87924155C>T, NC_000016.9:g.87957761C>G, NC_000016.9:g.87957761C>T, NG_033227.2:g.17375G>C, NG_033227.2:g.17375G>A, XM_005256134.5:c.522G>C, XM_005256134.5:c.522G>A, XM_005256134.4:c.522G>C, XM_005256134.4:c.522G>A, XM_005256134.3:c.522G>C, XM_005256134.3:c.522G>A, XM_005256134.2:c.522G>C, XM_005256134.2:c.522G>A, XM_005256134.1:c.522G>C, XM_005256134.1:c.522G>A, XP_005256191.1:p.Lys174Asn

Select item 14893283652.

rs1489328365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:87926829 (GRCh38)
16:87960435 (GRCh37)
Canonical SPDI:: NC_000016.10:87926828:A:T
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.87926829A>T, NC_000016.9:g.87960435A>T, NG_033227.2:g.14701T>A, NM_001739.2:c.259T>A, NM_001739.1:c.259T>A, NM_001367225.1:c.259T>A, NR_159798.1:n.338T>A, NR_159799.1:n.338T>A, XM_005256134.5:c.259T>A, XM_005256134.4:c.259T>A, XM_005256134.3:c.259T>A, XM_005256134.2:c.259T>A, XM_005256134.1:c.259T>A, XM_047434594.1:c.259T>A, XM_047434595.1:c.259T>A, NP_001730.1:p.Tyr87Asn, NP_001354154.1:p.Tyr87Asn, XP_005256191.1:p.Tyr87Asn, XP_047290550.1:p.Tyr87Asn, XP_047290551.1:p.Tyr87Asn

Select item 14858696493.

rs1485869649 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 16:87924157 (GRCh38)
16:87957763 (GRCh37)
Canonical SPDI:: NC_000016.10:87924150:TCTTCTTCT:TCTTCT
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.87924151TCT[2], NC_000016.9:g.87957757TCT[2], NG_033227.2:g.17371AGA[2], XM_005256134.5:c.518AGA[2], XM_005256134.4:c.518AGA[2], XM_005256134.3:c.518AGA[2], XM_005256134.2:c.518AGA[2], XM_005256134.1:c.518AGA[2], XP_005256191.1:p.Lys175del

Select item 14826871104.

rs1482687110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:87926904 (GRCh38)
16:87960510 (GRCh37)
Canonical SPDI:: NC_000016.10:87926903:T:G
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0001/4 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.87926904T>G, NC_000016.9:g.87960510T>G, NG_033227.2:g.14626A>C, NM_001739.2:c.184A>C, NM_001739.1:c.184A>C, NM_001367225.1:c.184A>C, NR_159798.1:n.263A>C, NR_159799.1:n.263A>C, XM_005256134.5:c.184A>C, XM_005256134.4:c.184A>C, XM_005256134.3:c.184A>C, XM_005256134.2:c.184A>C, XM_005256134.1:c.184A>C, XM_047434594.1:c.184A>C, XM_047434595.1:c.184A>C, NP_001730.1:p.Thr62Pro, NP_001354154.1:p.Thr62Pro, XP_005256191.1:p.Thr62Pro, XP_047290550.1:p.Thr62Pro, XP_047290551.1:p.Thr62Pro

Select item 14805254805.

rs1480525480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:87926754 (GRCh38)
16:87960360 (GRCh37)
Canonical SPDI:: NC_000016.10:87926753:C:T
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.87926754C>T, NC_000016.9:g.87960360C>T, NG_033227.2:g.14776G>A, NM_001739.2:c.334G>A, NM_001739.1:c.334G>A, NM_001367225.1:c.334G>A, NR_159798.1:n.413G>A, NR_159799.1:n.413G>A, XM_005256134.5:c.334G>A, XM_005256134.4:c.334G>A, XM_005256134.3:c.334G>A, XM_005256134.2:c.334G>A, XM_005256134.1:c.334G>A, XM_047434594.1:c.334G>A, XM_047434595.1:c.334G>A, NP_001730.1:p.Ala112Thr, NP_001354154.1:p.Ala112Thr, XP_005256191.1:p.Ala112Thr, XP_047290550.1:p.Ala112Thr, XP_047290551.1:p.Ala112Thr

Select item 14788069466.

rs1478806946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:87926778 (GRCh38)
16:87960384 (GRCh37)
Canonical SPDI:: NC_000016.10:87926777:C:T
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.87926778C>T, NC_000016.9:g.87960384C>T, NG_033227.2:g.14752G>A, NM_001739.2:c.310G>A, NM_001739.1:c.310G>A, NM_001367225.1:c.310G>A, NR_159798.1:n.389G>A, NR_159799.1:n.389G>A, XM_005256134.5:c.310G>A, XM_005256134.4:c.310G>A, XM_005256134.3:c.310G>A, XM_005256134.2:c.310G>A, XM_005256134.1:c.310G>A, XM_047434594.1:c.310G>A, XM_047434595.1:c.310G>A, NP_001730.1:p.Val104Met, NP_001354154.1:p.Val104Met, XP_005256191.1:p.Val104Met, XP_047290550.1:p.Val104Met, XP_047290551.1:p.Val104Met

Select item 14772635167.

rs1477263516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:87936406 (GRCh38)
16:87970012 (GRCh37)
Canonical SPDI:: NC_000016.10:87936405:C:A,NC_000016.10:87936405:C:G,NC_000016.10:87936405:C:T
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.87936406C>A, NC_000016.10:g.87936406C>G, NC_000016.10:g.87936406C>T, NC_000016.9:g.87970012C>A, NC_000016.9:g.87970012C>G, NC_000016.9:g.87970012C>T, NG_033227.2:g.5124G>T, NG_033227.2:g.5124G>C, NG_033227.2:g.5124G>A, NM_001739.2:c.45G>T, NM_001739.2:c.45G>C, NM_001739.2:c.45G>A, NM_001739.1:c.45G>T, NM_001739.1:c.45G>C, NM_001739.1:c.45G>A, NM_001367225.1:c.45G>T, NM_001367225.1:c.45G>C, NM_001367225.1:c.45G>A, NR_159798.1:n.124G>T, NR_159798.1:n.124G>C, NR_159798.1:n.124G>A, NR_159799.1:n.124G>T, NR_159799.1:n.124G>C, NR_159799.1:n.124G>A, XM_005256134.5:c.45G>T, XM_005256134.5:c.45G>C, XM_005256134.5:c.45G>A, XM_005256134.4:c.45G>T, XM_005256134.4:c.45G>C, XM_005256134.4:c.45G>A, XM_005256134.3:c.45G>T, XM_005256134.3:c.45G>C, XM_005256134.3:c.45G>A, XM_005256134.2:c.45G>T, XM_005256134.2:c.45G>C, XM_005256134.2:c.45G>A, XM_005256134.1:c.45G>T, XM_005256134.1:c.45G>C, XM_005256134.1:c.45G>A, XM_047434594.1:c.45G>T, XM_047434594.1:c.45G>C, XM_047434594.1:c.45G>A, XM_047434595.1:c.45G>T, XM_047434595.1:c.45G>C, XM_047434595.1:c.45G>A, NP_001730.1:p.Leu15Phe, NP_001730.1:p.Leu15Phe, NP_001354154.1:p.Leu15Phe, NP_001354154.1:p.Leu15Phe, XP_005256191.1:p.Leu15Phe, XP_005256191.1:p.Leu15Phe, XP_047290550.1:p.Leu15Phe, XP_047290550.1:p.Leu15Phe, XP_047290551.1:p.Leu15Phe, XP_047290551.1:p.Leu15Phe

Select item 14767623258.

rs1476762325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:87924102 (GRCh38)
16:87957708 (GRCh37)
Canonical SPDI:: NC_000016.10:87924101:G:A
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.87924102G>A, NC_000016.9:g.87957708G>A, NG_033227.2:g.17428C>T, XM_005256134.5:c.575C>T, XM_005256134.4:c.575C>T, XM_005256134.3:c.575C>T, XM_005256134.2:c.575C>T, XM_005256134.1:c.575C>T, XP_005256191.1:p.Ser192Leu

Select item 14708632309.

rs1470863230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:87926884 (GRCh38)
16:87960490 (GRCh37)
Canonical SPDI:: NC_000016.10:87926883:G:T
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000016.10:g.87926884G>T, NC_000016.9:g.87960490G>T, NG_033227.2:g.14646C>A, NM_001739.2:c.204C>A, NM_001739.1:c.204C>A, NM_001367225.1:c.204C>A, NR_159798.1:n.283C>A, NR_159799.1:n.283C>A, XM_005256134.5:c.204C>A, XM_005256134.4:c.204C>A, XM_005256134.3:c.204C>A, XM_005256134.2:c.204C>A, XM_005256134.1:c.204C>A, XM_047434594.1:c.204C>A, XM_047434595.1:c.204C>A, NP_001730.1:p.Asn68Lys, NP_001354154.1:p.Asn68Lys, XP_005256191.1:p.Asn68Lys, XP_047290550.1:p.Asn68Lys, XP_047290551.1:p.Asn68Lys

Select item 146972652810.

rs1469726528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:87936419 (GRCh38)
16:87970025 (GRCh37)
Canonical SPDI:: NC_000016.10:87936418:G:A
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.87936419G>A, NC_000016.9:g.87970025G>A, NG_033227.2:g.5111C>T, NM_001739.2:c.32C>T, NM_001739.1:c.32C>T, NM_001367225.1:c.32C>T, NR_159798.1:n.111C>T, NR_159799.1:n.111C>T, XM_005256134.5:c.32C>T, XM_005256134.4:c.32C>T, XM_005256134.3:c.32C>T, XM_005256134.2:c.32C>T, XM_005256134.1:c.32C>T, XM_047434594.1:c.32C>T, XM_047434595.1:c.32C>T, NP_001730.1:p.Ala11Val, NP_001354154.1:p.Ala11Val, XP_005256191.1:p.Ala11Val, XP_047290550.1:p.Ala11Val, XP_047290551.1:p.Ala11Val

Select item 146904311111.

rs1469043111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:87924281 (GRCh38)
16:87957887 (GRCh37)
Canonical SPDI:: NC_000016.10:87924280:C:G
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.87924281C>G, NC_000016.9:g.87957887C>G, NG_033227.2:g.17249G>C, XM_005256134.5:c.396G>C, XM_005256134.4:c.396G>C, XM_005256134.3:c.396G>C, XM_005256134.2:c.396G>C, XM_005256134.1:c.396G>C, XP_005256191.1:p.Gln132His

Select item 146835209212.

rs1468352092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:87926930 (GRCh38)
16:87960536 (GRCh37)
Canonical SPDI:: NC_000016.10:87926929:G:A
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.87926930G>A, NC_000016.9:g.87960536G>A, NG_033227.2:g.14600C>T, NM_001739.2:c.158C>T, NM_001739.1:c.158C>T, NM_001367225.1:c.158C>T, NR_159798.1:n.237C>T, NR_159799.1:n.237C>T, XM_005256134.5:c.158C>T, XM_005256134.4:c.158C>T, XM_005256134.3:c.158C>T, XM_005256134.2:c.158C>T, XM_005256134.1:c.158C>T, XM_047434594.1:c.158C>T, XM_047434595.1:c.158C>T, NP_001730.1:p.Thr53Met, NP_001354154.1:p.Thr53Met, XP_005256191.1:p.Thr53Met, XP_047290550.1:p.Thr53Met, XP_047290551.1:p.Thr53Met

Select item 146708195713.

rs1467081957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:87926899 (GRCh38)
16:87960505 (GRCh37)
Canonical SPDI:: NC_000016.10:87926898:C:T
Gene:: CA5A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000016.10:g.87926899C>T, NC_000016.9:g.87960505C>T, NG_033227.2:g.14631G>A, NM_001739.2:c.189G>A, NM_001739.1:c.189G>A, NM_001367225.1:c.189G>A, NR_159798.1:n.268G>A, NR_159799.1:n.268G>A, XM_005256134.5:c.189G>A, XM_005256134.4:c.189G>A, XM_005256134.3:c.189G>A, XM_005256134.2:c.189G>A, XM_005256134.1:c.189G>A, XM_047434594.1:c.189G>A, XM_047434595.1:c.189G>A

Select item 146596498414.

rs1465964984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:87936323 (GRCh38)
16:87969929 (GRCh37)
Canonical SPDI:: NC_000016.10:87936322:G:C
Gene:: CA5A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.87936323G>C, NC_000016.9:g.87969929G>C, NG_033227.2:g.5207C>G, NM_001739.2:c.128C>G, NM_001739.1:c.128C>G, NM_001367225.1:c.128C>G, NR_159798.1:n.207C>G, NR_159799.1:n.207C>G, XM_005256134.5:c.128C>G, XM_005256134.4:c.128C>G, XM_005256134.3:c.128C>G, XM_005256134.2:c.128C>G, XM_005256134.1:c.128C>G, XM_047434594.1:c.128C>G, XM_047434595.1:c.128C>G, NP_001730.1:p.Thr43Ser, NP_001354154.1:p.Thr43Ser, XP_005256191.1:p.Thr43Ser, XP_047290550.1:p.Thr43Ser, XP_047290551.1:p.Thr43Ser

Select item 146448698515.

rs1464486985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:87924221 (GRCh38)
16:87957827 (GRCh37)
Canonical SPDI:: NC_000016.10:87924220:A:C
Gene:: CA5A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000016.10:g.87924221A>C, NC_000016.9:g.87957827A>C, NG_033227.2:g.17309T>G, XM_005256134.5:c.456T>G, XM_005256134.4:c.456T>G, XM_005256134.3:c.456T>G, XM_005256134.2:c.456T>G, XM_005256134.1:c.456T>G, XP_005256191.1:p.Ser152Arg

Select item 145592995216.

rs1455929952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:87924096 (GRCh38)
16:87957702 (GRCh37)
Canonical SPDI:: NC_000016.10:87924095:G:A
Gene:: CA5A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000016.10:g.87924096G>A, NC_000016.9:g.87957702G>A, NG_033227.2:g.17434C>T, XM_005256134.5:c.581C>T, XM_005256134.4:c.581C>T, XM_005256134.3:c.581C>T, XM_005256134.2:c.581C>T, XM_005256134.1:c.581C>T, XP_005256191.1:p.Thr194Ile

Select item 145475383217.

rs1454753832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:87924334 (GRCh38)
16:87957940 (GRCh37)
Canonical SPDI:: NC_000016.10:87924333:C:T
Gene:: CA5A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.87924334C>T, NC_000016.9:g.87957940C>T, NG_033227.2:g.17196G>A, XM_005256134.5:c.343G>A, XM_005256134.4:c.343G>A, XM_005256134.3:c.343G>A, XM_005256134.2:c.343G>A, XM_005256134.1:c.343G>A, XP_005256191.1:p.Glu115Lys

Select item 145024281918.

rs1450242819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:87936372 (GRCh38)
16:87969978 (GRCh37)
Canonical SPDI:: NC_000016.10:87936371:A:T
Gene:: CA5A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.87936372A>T, NC_000016.9:g.87969978A>T, NG_033227.2:g.5158T>A, NM_001739.2:c.79T>A, NM_001739.1:c.79T>A, NM_001367225.1:c.79T>A, NR_159798.1:n.158T>A, NR_159799.1:n.158T>A, XM_005256134.5:c.79T>A, XM_005256134.4:c.79T>A, XM_005256134.3:c.79T>A, XM_005256134.2:c.79T>A, XM_005256134.1:c.79T>A, XM_047434594.1:c.79T>A, XM_047434595.1:c.79T>A, NP_001730.1:p.Ser27Thr, NP_001354154.1:p.Ser27Thr, XP_005256191.1:p.Ser27Thr, XP_047290550.1:p.Ser27Thr, XP_047290551.1:p.Ser27Thr

Select item 144318049619.

rs1443180496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:87924136 (GRCh38)
16:87957742 (GRCh37)
Canonical SPDI:: NC_000016.10:87924135:T:C
Gene:: CA5A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.87924136T>C, NC_000016.9:g.87957742T>C, NG_033227.2:g.17394A>G, XM_005256134.5:c.541A>G, XM_005256134.4:c.541A>G, XM_005256134.3:c.541A>G, XM_005256134.2:c.541A>G, XM_005256134.1:c.541A>G, XP_005256191.1:p.Thr181Ala

Select item 143509738620.

rs1435097386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:87924249 (GRCh38)
16:87957855 (GRCh37)
Canonical SPDI:: NC_000016.10:87924248:A:C,NC_000016.10:87924248:A:G
Gene:: CA5A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.87924249A>C, NC_000016.10:g.87924249A>G, NC_000016.9:g.87957855A>C, NC_000016.9:g.87957855A>G, NG_033227.2:g.17281T>G, NG_033227.2:g.17281T>C, XM_005256134.5:c.428T>G, XM_005256134.5:c.428T>C, XM_005256134.4:c.428T>G, XM_005256134.4:c.428T>C, XM_005256134.3:c.428T>G, XM_005256134.3:c.428T>C, XM_005256134.2:c.428T>G, XM_005256134.2:c.428T>C, XM_005256134.1:c.428T>G, XM_005256134.1:c.428T>C, XP_005256191.1:p.Val143Gly, XP_005256191.1:p.Val143Ala

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