SNP Links for Protein (Select 1022943167) - SNP

Links from Protein

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Select item 14906479991.

rs1490647999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:28413328 (GRCh38)
3:28454819 (GRCh37)
Canonical SPDI:: NC_000003.12:28413327:G:A
Gene:: ZCWPW2 (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=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.28413328G>A, NC_000003.11:g.28454819G>A, NM_001040432.4:c.260G>A, NM_001040432.3:c.260G>A, NM_001040432.2:c.260G>A, NM_001040432.1:c.260G>A, NM_001324169.2:c.260G>A, NM_001324169.1:c.260G>A, NR_136708.2:n.756G>A, NR_136708.1:n.328G>A, NM_001324170.2:c.260G>A, NM_001324170.1:c.260G>A, NP_001035522.1:p.Cys87Tyr, NP_001311098.1:p.Cys87Tyr, NP_001311099.1:p.Cys87Tyr

Select item 14901112152.

rs1490111215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:28435146 (GRCh38)
3:28476637 (GRCh37)
Canonical SPDI:: NC_000003.12:28435145:G:A,NC_000003.12:28435145:G:T
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.28435146G>A, NC_000003.12:g.28435146G>T, NC_000003.11:g.28476637G>A, NC_000003.11:g.28476637G>T, NM_001040432.4:c.369G>A, NM_001040432.4:c.369G>T, NM_001040432.3:c.369G>A, NM_001040432.3:c.369G>T, NM_001040432.2:c.369G>A, NM_001040432.2:c.369G>T, NM_001040432.1:c.369G>A, NM_001040432.1:c.369G>T, NM_001324169.2:c.369G>A, NM_001324169.2:c.369G>T, NM_001324169.1:c.369G>A, NM_001324169.1:c.369G>T, NR_136708.2:n.865G>A, NR_136708.2:n.865G>T, NR_136708.1:n.437G>A, NR_136708.1:n.437G>T, NM_001324170.2:c.369G>A, NM_001324170.2:c.369G>T, NM_001324170.1:c.369G>A, NM_001324170.1:c.369G>T

Select item 14896719953.

rs1489671995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:28515604 (GRCh38)
3:28557095 (GRCh37)
Canonical SPDI:: NC_000003.12:28515603:T:G
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.28515604T>G, NC_000003.11:g.28557095T>G, NM_001040432.4:c.767T>G, NM_001040432.3:c.767T>G, NM_001040432.2:c.767T>G, NM_001040432.1:c.767T>G, NM_001324169.2:c.767T>G, NM_001324169.1:c.767T>G, NR_136708.2:n.1145T>G, NR_136708.1:n.717T>G, NP_001035522.1:p.Leu256Ter, NP_001311098.1:p.Leu256Ter

Select item 14867087404.

rs1486708740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:28521014 (GRCh38)
3:28562505 (GRCh37)
Canonical SPDI:: NC_000003.12:28521013:A:T
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.28521014A>T, NC_000003.11:g.28562505A>T, NM_001040432.4:c.807A>T, NM_001040432.3:c.807A>T, NM_001040432.2:c.807A>T, NM_001040432.1:c.807A>T, NM_001324169.2:c.807A>T, NM_001324169.1:c.807A>T, NR_136708.2:n.1185A>T, NR_136708.1:n.757A>T, NM_001324170.2:c.621A>T, NM_001324170.1:c.621A>T, NP_001035522.1:p.Leu269Phe, NP_001311098.1:p.Leu269Phe, NP_001311099.1:p.Leu207Phe

Select item 14865296535.

rs1486529653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:28524566 (GRCh38)
3:28566057 (GRCh37)
Canonical SPDI:: NC_000003.12:28524565:T:C,NC_000003.12:28524565:T:G
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.28524566T>C, NC_000003.12:g.28524566T>G, NC_000003.11:g.28566057T>C, NC_000003.11:g.28566057T>G, NM_001040432.4:c.949T>C, NM_001040432.4:c.949T>G, NM_001040432.3:c.949T>C, NM_001040432.3:c.949T>G, NM_001040432.2:c.949T>C, NM_001040432.2:c.949T>G, NM_001040432.1:c.949T>C, NM_001040432.1:c.949T>G, NM_001324169.2:c.949T>C, NM_001324169.2:c.949T>G, NM_001324169.1:c.949T>C, NM_001324169.1:c.949T>G, NR_136708.2:n.1327T>C, NR_136708.2:n.1327T>G, NR_136708.1:n.899T>C, NR_136708.1:n.899T>G, NM_001324170.2:c.763T>C, NM_001324170.2:c.763T>G, NM_001324170.1:c.763T>C, NM_001324170.1:c.763T>G, NP_001035522.1:p.Phe317Leu, NP_001035522.1:p.Phe317Val, NP_001311098.1:p.Phe317Leu, NP_001311098.1:p.Phe317Val, NP_001311099.1:p.Phe255Leu, NP_001311099.1:p.Phe255Val

Select item 14857272166.

rs1485727216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:28524632 (GRCh38)
3:28566123 (GRCh37)
Canonical SPDI:: NC_000003.12:28524631:A:G
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.28524632A>G, NC_000003.11:g.28566123A>G, NM_001040432.4:c.1015A>G, NM_001040432.3:c.1015A>G, NM_001040432.2:c.1015A>G, NM_001040432.1:c.1015A>G, NM_001324169.2:c.1015A>G, NM_001324169.1:c.1015A>G, NR_136708.2:n.1393A>G, NR_136708.1:n.965A>G, NM_001324170.2:c.829A>G, NM_001324170.1:c.829A>G, NP_001035522.1:p.Ile339Val, NP_001311098.1:p.Ile339Val, NP_001311099.1:p.Ile277Val

Select item 14801075567.

rs1480107556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:28435208 (GRCh38)
3:28476699 (GRCh37)
Canonical SPDI:: NC_000003.12:28435207:A:G
Gene:: ZCWPW2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.28435208A>G, NC_000003.11:g.28476699A>G, NM_001040432.4:c.431A>G, NM_001040432.3:c.431A>G, NM_001040432.2:c.431A>G, NM_001040432.1:c.431A>G, NM_001324169.2:c.431A>G, NM_001324169.1:c.431A>G, NR_136708.2:n.927A>G, NR_136708.1:n.499A>G, NM_001324170.2:c.431A>G, NM_001324170.1:c.431A>G, NP_001035522.1:p.Asp144Gly, NP_001311098.1:p.Asp144Gly, NP_001311099.1:p.Asp144Gly

Select item 14751049458.

rs1475104945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:28521095 (GRCh38)
3:28562586 (GRCh37)
Canonical SPDI:: NC_000003.12:28521094:G:A
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.28521095G>A, NC_000003.11:g.28562586G>A, NM_001040432.4:c.888G>A, NM_001040432.3:c.888G>A, NM_001040432.2:c.888G>A, NM_001040432.1:c.888G>A, NM_001324169.2:c.888G>A, NM_001324169.1:c.888G>A, NR_136708.2:n.1266G>A, NR_136708.1:n.838G>A, NM_001324170.2:c.702G>A, NM_001324170.1:c.702G>A

Select item 14718058359.

rs1471805835 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:28524637 (GRCh38)
3:28566128 (GRCh37)
Canonical SPDI:: NC_000003.12:28524636:GG:
Gene:: ZCWPW2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.28524637_28524638del, NC_000003.11:g.28566128_28566129del, NM_001040432.4:c.1020_1021del, NM_001040432.3:c.1020_1021del, NM_001040432.2:c.1020_1021del, NM_001040432.1:c.1020_1021del, NM_001324169.2:c.1020_1021del, NM_001324169.1:c.1020_1021del, NR_136708.2:n.1398_1399del, NR_136708.1:n.970_971del, NM_001324170.2:c.834_835del, NM_001324170.1:c.834_835del, NP_001035522.1:p.Asp341fs, NP_001311098.1:p.Asp341fs, NP_001311099.1:p.Asp279fs

Select item 147132691310.

rs1471326913 [Homo sapiens]

Variant type:: DEL
Alleles:: CCC>- [Show Flanks]
Chromosome:: 3:28514100 (GRCh38)
3:28555591 (GRCh37)
Canonical SPDI:: NC_000003.12:28514099:CCC:
Gene:: ZCWPW2 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_indel,inframe_deletion,coding_sequence_variant
HGVS:: NC_000003.12:g.28514100_28514102del, NC_000003.11:g.28555591_28555593del, NM_001040432.4:c.694_696del, NM_001040432.3:c.694_696del, NM_001040432.2:c.694_696del, NM_001040432.1:c.694_696del, NM_001324169.2:c.694_696del, NM_001324169.1:c.694_696del, NR_136708.2:n.1072_1074del, NR_136708.1:n.644_646del, NM_001324170.2:c.576_578del, NM_001324170.1:c.576_578del, NP_001035522.1:p.Pro232del, NP_001311098.1:p.Pro232del, NP_001311099.1:p.Ser192_Pro193delinsArg

Select item 147046720411.

rs1470467204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:28413218 (GRCh38)
3:28454709 (GRCh37)
Canonical SPDI:: NC_000003.12:28413217:C:G,NC_000003.12:28413217:C:T
Gene:: ZCWPW2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.28413218C>G, NC_000003.12:g.28413218C>T, NC_000003.11:g.28454709C>G, NC_000003.11:g.28454709C>T, NM_001040432.4:c.150C>G, NM_001040432.4:c.150C>T, NM_001040432.3:c.150C>G, NM_001040432.3:c.150C>T, NM_001040432.2:c.150C>G, NM_001040432.2:c.150C>T, NM_001040432.1:c.150C>G, NM_001040432.1:c.150C>T, NM_001324169.2:c.150C>G, NM_001324169.2:c.150C>T, NM_001324169.1:c.150C>G, NM_001324169.1:c.150C>T, NR_136708.2:n.646C>G, NR_136708.2:n.646C>T, NR_136708.1:n.218C>G, NR_136708.1:n.218C>T, NM_001324170.2:c.150C>G, NM_001324170.2:c.150C>T, NM_001324170.1:c.150C>G, NM_001324170.1:c.150C>T

Select item 146903933412.

rs1469039334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:28435152 (GRCh38)
3:28476643 (GRCh37)
Canonical SPDI:: NC_000003.12:28435151:T:C
Gene:: ZCWPW2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.28435152T>C, NC_000003.11:g.28476643T>C, NM_001040432.4:c.375T>C, NM_001040432.3:c.375T>C, NM_001040432.2:c.375T>C, NM_001040432.1:c.375T>C, NM_001324169.2:c.375T>C, NM_001324169.1:c.375T>C, NR_136708.2:n.871T>C, NR_136708.1:n.443T>C, NM_001324170.2:c.375T>C, NM_001324170.1:c.375T>C

Select item 145540357913.

rs1455403579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:28524594 (GRCh38)
3:28566085 (GRCh37)
Canonical SPDI:: NC_000003.12:28524593:T:C
Gene:: ZCWPW2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.28524594T>C, NC_000003.11:g.28566085T>C, NM_001040432.4:c.977T>C, NM_001040432.3:c.977T>C, NM_001040432.2:c.977T>C, NM_001040432.1:c.977T>C, NM_001324169.2:c.977T>C, NM_001324169.1:c.977T>C, NR_136708.2:n.1355T>C, NR_136708.1:n.927T>C, NM_001324170.2:c.791T>C, NM_001324170.1:c.791T>C, NP_001035522.1:p.Leu326Pro, NP_001311098.1:p.Leu326Pro, NP_001311099.1:p.Leu264Pro

Select item 145387124114.

rs1453871241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:28413167 (GRCh38)
3:28454658 (GRCh37)
Canonical SPDI:: NC_000003.12:28413166:T:C
Gene:: ZCWPW2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.28413167T>C, NC_000003.11:g.28454658T>C, NM_001040432.4:c.99T>C, NM_001040432.3:c.99T>C, NM_001040432.2:c.99T>C, NM_001040432.1:c.99T>C, NM_001324169.2:c.99T>C, NM_001324169.1:c.99T>C, NR_136708.2:n.595T>C, NR_136708.1:n.167T>C, NM_001324170.2:c.99T>C, NM_001324170.1:c.99T>C

Select item 145020029115.

rs1450200291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:28413399 (GRCh38)
3:28454890 (GRCh37)
Canonical SPDI:: NC_000003.12:28413398:A:G
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.28413399A>G, NC_000003.11:g.28454890A>G, NM_001040432.4:c.331A>G, NM_001040432.3:c.331A>G, NM_001040432.2:c.331A>G, NM_001040432.1:c.331A>G, NM_001324169.2:c.331A>G, NM_001324169.1:c.331A>G, NR_136708.2:n.827A>G, NR_136708.1:n.399A>G, NM_001324170.2:c.331A>G, NM_001324170.1:c.331A>G, NP_001035522.1:p.Ser111Gly, NP_001311098.1:p.Ser111Gly, NP_001311099.1:p.Ser111Gly

Select item 144913404016.

rs1449134040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:28413075 (GRCh38)
3:28454566 (GRCh37)
Canonical SPDI:: NC_000003.12:28413074:A:G,NC_000003.12:28413074:A:T
Gene:: ZCWPW2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.28413075A>G, NC_000003.12:g.28413075A>T, NC_000003.11:g.28454566A>G, NC_000003.11:g.28454566A>T, NM_001040432.4:c.7A>G, NM_001040432.4:c.7A>T, NM_001040432.3:c.7A>G, NM_001040432.3:c.7A>T, NM_001040432.2:c.7A>G, NM_001040432.2:c.7A>T, NM_001040432.1:c.7A>G, NM_001040432.1:c.7A>T, NM_001324169.2:c.7A>G, NM_001324169.2:c.7A>T, NM_001324169.1:c.7A>G, NM_001324169.1:c.7A>T, NR_136708.2:n.503A>G, NR_136708.2:n.503A>T, NR_136708.1:n.75A>G, NR_136708.1:n.75A>T, NM_001324170.2:c.7A>G, NM_001324170.2:c.7A>T, NM_001324170.1:c.7A>G, NM_001324170.1:c.7A>T, NP_001035522.1:p.Lys3Glu, NP_001035522.1:p.Lys3Ter, NP_001311098.1:p.Lys3Glu, NP_001311098.1:p.Lys3Ter, NP_001311099.1:p.Lys3Glu, NP_001311099.1:p.Lys3Ter

Select item 144906834917.

rs1449068349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:28478855 (GRCh38)
3:28520346 (GRCh37)
Canonical SPDI:: NC_000003.12:28478854:A:C,NC_000003.12:28478854:A:G
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.28478855A>C, NC_000003.12:g.28478855A>G, NC_000003.11:g.28520346A>C, NC_000003.11:g.28520346A>G, NM_001040432.4:c.534A>C, NM_001040432.4:c.534A>G, NM_001040432.3:c.534A>C, NM_001040432.3:c.534A>G, NM_001040432.2:c.534A>C, NM_001040432.2:c.534A>G, NM_001040432.1:c.534A>C, NM_001040432.1:c.534A>G, NM_001324169.2:c.534A>C, NM_001324169.2:c.534A>G, NM_001324169.1:c.534A>C, NM_001324169.1:c.534A>G

Select item 144418745818.

rs1444187458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:28413353 (GRCh38)
3:28454844 (GRCh37)
Canonical SPDI:: NC_000003.12:28413352:G:A
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.28413353G>A, NC_000003.11:g.28454844G>A, NM_001040432.4:c.285G>A, NM_001040432.3:c.285G>A, NM_001040432.2:c.285G>A, NM_001040432.1:c.285G>A, NM_001324169.2:c.285G>A, NM_001324169.1:c.285G>A, NR_136708.2:n.781G>A, NR_136708.1:n.353G>A, NM_001324170.2:c.285G>A, NM_001324170.1:c.285G>A

Select item 144358729819.

rs1443587298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:28413279 (GRCh38)
3:28454770 (GRCh37)
Canonical SPDI:: NC_000003.12:28413278:T:G
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.28413279T>G, NC_000003.11:g.28454770T>G, NM_001040432.4:c.211T>G, NM_001040432.3:c.211T>G, NM_001040432.2:c.211T>G, NM_001040432.1:c.211T>G, NM_001324169.2:c.211T>G, NM_001324169.1:c.211T>G, NR_136708.2:n.707T>G, NR_136708.1:n.279T>G, NM_001324170.2:c.211T>G, NM_001324170.1:c.211T>G, NP_001035522.1:p.Cys71Gly, NP_001311098.1:p.Cys71Gly, NP_001311099.1:p.Cys71Gly

Select item 144183812120.

rs1441838121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:28413238 (GRCh38)
3:28454729 (GRCh37)
Canonical SPDI:: NC_000003.12:28413237:C:G,NC_000003.12:28413237:C:T
Gene:: ZCWPW2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.28413238C>G, NC_000003.12:g.28413238C>T, NC_000003.11:g.28454729C>G, NC_000003.11:g.28454729C>T, NM_001040432.4:c.170C>G, NM_001040432.4:c.170C>T, NM_001040432.3:c.170C>G, NM_001040432.3:c.170C>T, NM_001040432.2:c.170C>G, NM_001040432.2:c.170C>T, NM_001040432.1:c.170C>G, NM_001040432.1:c.170C>T, NM_001324169.2:c.170C>G, NM_001324169.2:c.170C>T, NM_001324169.1:c.170C>G, NM_001324169.1:c.170C>T, NR_136708.2:n.666C>G, NR_136708.2:n.666C>T, NR_136708.1:n.238C>G, NR_136708.1:n.238C>T, NM_001324170.2:c.170C>G, NM_001324170.2:c.170C>T, NM_001324170.1:c.170C>G, NM_001324170.1:c.170C>T, NP_001035522.1:p.Pro57Arg, NP_001035522.1:p.Pro57Leu, NP_001311098.1:p.Pro57Arg, NP_001311098.1:p.Pro57Leu, NP_001311099.1:p.Pro57Arg, NP_001311099.1:p.Pro57Leu

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