SNP Links for Protein (Select 238859541) - SNP

Links from Protein

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Select item 14905265251.

rs1490526525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:18877607 (GRCh38)
1:19204101 (GRCh37)
Canonical SPDI:: NC_000001.11:18877606:C:A,NC_000001.11:18877606:C:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.18877607C>A, NC_000001.11:g.18877607C>T, NC_000001.10:g.19204101C>A, NC_000001.10:g.19204101C>T, NG_012283.1:g.30193G>T, NG_012283.1:g.30193G>A, NM_003748.4:c.946G>T, NM_003748.4:c.946G>A, NM_003748.3:c.946G>T, NM_003748.3:c.946G>A, NM_170726.3:c.946G>T, NM_170726.3:c.946G>A, NM_170726.2:c.946G>T, NM_170726.2:c.946G>A, NM_001161504.2:c.766G>T, NM_001161504.2:c.766G>A, NM_001161504.1:c.766G>T, NM_001161504.1:c.766G>A, NM_001319218.2:c.946G>T, NM_001319218.2:c.946G>A, NM_001319218.1:c.946G>T, NM_001319218.1:c.946G>A, NP_003739.2:p.Gly316Cys, NP_003739.2:p.Gly316Ser, NP_733844.1:p.Gly316Cys, NP_733844.1:p.Gly316Ser, NP_001154976.1:p.Gly256Cys, NP_001154976.1:p.Gly256Ser, NP_001306147.1:p.Gly316Cys, NP_001306147.1:p.Gly316Ser

Select item 14892681982.

rs1489268198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18881712 (GRCh38)
1:19208206 (GRCh37)
Canonical SPDI:: NC_000001.11:18881711:G:A
Gene:: ALDH4A1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.18881712G>A, NC_000001.10:g.19208206G>A, NG_012283.1:g.26088C>T, NM_003748.4:c.854C>T, NM_003748.3:c.854C>T, NM_170726.3:c.854C>T, NM_170726.2:c.854C>T, NM_001161504.2:c.674C>T, NM_001161504.1:c.674C>T, NM_001319218.2:c.854C>T, NM_001319218.1:c.854C>T, NP_003739.2:p.Thr285Ile, NP_733844.1:p.Thr285Ile, NP_001154976.1:p.Thr225Ile, NP_001306147.1:p.Thr285Ile

Select item 14892183523.

rs1489218352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18883348 (GRCh38)
1:19209842 (GRCh37)
Canonical SPDI:: NC_000001.11:18883347:C:T
Gene:: ALDH4A1 (Varview), MIR4695 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.18883348C>T, NC_000001.10:g.19209842C>T, NG_012283.1:g.24452G>A, NM_003748.4:c.534G>A, NM_003748.3:c.534G>A, NM_170726.3:c.534G>A, NM_170726.2:c.534G>A, NM_001161504.2:c.354G>A, NM_001161504.1:c.354G>A, NM_001319218.2:c.534G>A, NM_001319218.1:c.534G>A

Select item 14880423784.

rs1488042378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:18876464 (GRCh38)
1:19202958 (GRCh37)
Canonical SPDI:: NC_000001.11:18876463:A:G,NC_000001.11:18876463:A:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.18876464A>G, NC_000001.11:g.18876464A>T, NC_000001.10:g.19202958A>G, NC_000001.10:g.19202958A>T, NG_012283.1:g.31336T>C, NG_012283.1:g.31336T>A, NM_003748.4:c.1189T>C, NM_003748.4:c.1189T>A, NM_003748.3:c.1189T>C, NM_003748.3:c.1189T>A, NM_170726.3:c.1189T>C, NM_170726.3:c.1189T>A, NM_170726.2:c.1189T>C, NM_170726.2:c.1189T>A, NM_001161504.2:c.1009T>C, NM_001161504.2:c.1009T>A, NM_001161504.1:c.1009T>C, NM_001161504.1:c.1009T>A, NP_003739.2:p.Phe397Leu, NP_003739.2:p.Phe397Ile, NP_733844.1:p.Phe397Leu, NP_733844.1:p.Phe397Ile, NP_001154976.1:p.Phe337Leu, NP_001154976.1:p.Phe337Ile

Select item 14839328155.

rs1483932815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18877470 (GRCh38)
1:19203964 (GRCh37)
Canonical SPDI:: NC_000001.11:18877469:C:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000001.11:g.18877470C>T, NC_000001.10:g.19203964C>T, NG_012283.1:g.30330G>A, NM_003748.4:c.1083G>A, NM_003748.3:c.1083G>A, NM_170726.3:c.1083G>A, NM_170726.2:c.1083G>A, NM_001161504.2:c.903G>A, NM_001161504.1:c.903G>A, NM_001319218.2:c.1083G>A, NM_001319218.1:c.1083G>A, NP_003739.2:p.Trp361Ter, NP_733844.1:p.Trp361Ter, NP_001154976.1:p.Trp301Ter, NP_001306147.1:p.Trp361Ter

Select item 14809018086.

rs1480901808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18877552 (GRCh38)
1:19204046 (GRCh37)
Canonical SPDI:: NC_000001.11:18877551:C:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000001.11:g.18877552C>T, NC_000001.10:g.19204046C>T, NG_012283.1:g.30248G>A, NM_003748.4:c.1001G>A, NM_003748.3:c.1001G>A, NM_170726.3:c.1001G>A, NM_170726.2:c.1001G>A, NM_001161504.2:c.821G>A, NM_001161504.1:c.821G>A, NM_001319218.2:c.1001G>A, NM_001319218.1:c.1001G>A, NP_003739.2:p.Ser334Asn, NP_733844.1:p.Ser334Asn, NP_001154976.1:p.Ser274Asn, NP_001306147.1:p.Ser334Asn

Select item 14789507337.

rs1478950733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:18881878 (GRCh38)
1:19208372 (GRCh37)
Canonical SPDI:: NC_000001.11:18881877:C:A
Gene:: ALDH4A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.18881878C>A, NC_000001.10:g.19208372C>A, NG_012283.1:g.25922G>T, NM_003748.4:c.688G>T, NM_003748.3:c.688G>T, NM_170726.3:c.688G>T, NM_170726.2:c.688G>T, NM_001161504.2:c.508G>T, NM_001161504.1:c.508G>T, NM_001319218.2:c.688G>T, NM_001319218.1:c.688G>T, NP_003739.2:p.Val230Phe, NP_733844.1:p.Val230Phe, NP_001154976.1:p.Val170Phe, NP_001306147.1:p.Val230Phe

Select item 14785540798.

rs1478554079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18885500 (GRCh38)
1:19211994 (GRCh37)
Canonical SPDI:: NC_000001.11:18885499:C:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.18885500C>T, NC_000001.10:g.19211994C>T, NG_012283.1:g.22300G>A, NM_003748.4:c.426G>A, NM_003748.3:c.426G>A, NM_170726.3:c.426G>A, NM_170726.2:c.426G>A, NM_001161504.2:c.246G>A, NM_001161504.1:c.246G>A, NM_001319218.2:c.426G>A, NM_001319218.1:c.426G>A

Select item 14764063219.

rs1476406321 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:18875460 (GRCh38)
1:19201955 (GRCh37)
Canonical SPDI:: NC_000001.11:18875460::A
Gene:: ALDH4A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.18875460_18875461insA, NC_000001.10:g.19201954_19201955insA, NG_012283.1:g.32339_32340insT, NM_003748.4:c.1381_1382insT, NM_003748.3:c.1381_1382insT, NM_170726.3:c.1381_1382insT, NM_170726.2:c.1381_1382insT, NM_001161504.2:c.1201_1202insT, NM_001161504.1:c.1201_1202insT, NM_001319218.2:c.1228_1229insT, NM_001319218.1:c.1228_1229insT, NG_073875.1:g.266_267insA, NP_003739.2:p.Asp461fs, NP_733844.1:p.Asp461fs, NP_001154976.1:p.Asp401fs, NP_001306147.1:p.Asp410fs

Select item 147434660810.

rs1474346608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18881867 (GRCh38)
1:19208361 (GRCh37)
Canonical SPDI:: NC_000001.11:18881866:C:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.18881867C>T, NC_000001.10:g.19208361C>T, NG_012283.1:g.25933G>A, NM_003748.4:c.699G>A, NM_003748.3:c.699G>A, NM_170726.3:c.699G>A, NM_170726.2:c.699G>A, NM_001161504.2:c.519G>A, NM_001161504.1:c.519G>A, NM_001319218.2:c.699G>A, NM_001319218.1:c.699G>A

Select item 147003449411.

rs1470034494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:18872848 (GRCh38)
1:19199342 (GRCh37)
Canonical SPDI:: NC_000001.11:18872847:C:A
Gene:: ALDH4A1 (Varview)
Functional Consequence:: missense_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)
HGVS:: NC_000001.11:g.18872848C>A, NC_000001.10:g.19199342C>A, NG_012283.1:g.34952G>T, NM_003748.4:c.1689G>T, NM_003748.3:c.1689G>T, NM_170726.3:c.1689G>T, NM_170726.2:c.1689G>T, NM_001161504.2:c.1509G>T, NM_001161504.1:c.1509G>T, NM_001319218.2:c.1536G>T, NM_001319218.1:c.1536G>T, NP_003739.2:p.Gln563His, NP_733844.1:p.Gln563His, NP_001154976.1:p.Gln503His, NP_001306147.1:p.Gln512His

Select item 146963823112.

rs1469638231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:18889413 (GRCh38)
1:19215907 (GRCh37)
Canonical SPDI:: NC_000001.11:18889412:G:A,NC_000001.11:18889412:G:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000001.11:g.18889413G>A, NC_000001.11:g.18889413G>T, NC_000001.10:g.19215907G>A, NC_000001.10:g.19215907G>T, NG_012283.1:g.18387C>T, NG_012283.1:g.18387C>A, NM_003748.4:c.198C>T, NM_003748.4:c.198C>A, NM_003748.3:c.198C>T, NM_003748.3:c.198C>A, NM_170726.3:c.198C>T, NM_170726.3:c.198C>A, NM_170726.2:c.198C>T, NM_170726.2:c.198C>A, NM_001161504.2:c.18C>T, NM_001161504.2:c.18C>A, NM_001161504.1:c.18C>T, NM_001161504.1:c.18C>A, NM_001319218.2:c.198C>T, NM_001319218.2:c.198C>A, NM_001319218.1:c.198C>T, NM_001319218.1:c.198C>A, NP_003739.2:p.Cys66Ter, NP_733844.1:p.Cys66Ter, NP_001154976.1:p.Cys6Ter, NP_001306147.1:p.Cys66Ter

Select item 146897605513.

rs1468976055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18889421 (GRCh38)
1:19215915 (GRCh37)
Canonical SPDI:: NC_000001.11:18889420:T:C
Gene:: ALDH4A1 (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_000001.11:g.18889421T>C, NC_000001.10:g.19215915T>C, NG_012283.1:g.18379A>G, NM_003748.4:c.190A>G, NM_003748.3:c.190A>G, NM_170726.3:c.190A>G, NM_170726.2:c.190A>G, NM_001161504.2:c.10A>G, NM_001161504.1:c.10A>G, NM_001319218.2:c.190A>G, NM_001319218.1:c.190A>G, NP_003739.2:p.Ile64Val, NP_733844.1:p.Ile64Val, NP_001154976.1:p.Ile4Val, NP_001306147.1:p.Ile64Val

Select item 146784335914.

rs1467843359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18879300 (GRCh38)
1:19205794 (GRCh37)
Canonical SPDI:: NC_000001.11:18879299:C:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.18879300C>T, NC_000001.10:g.19205794C>T, NG_012283.1:g.28500G>A, NM_003748.4:c.940G>A, NM_003748.3:c.940G>A, NM_170726.3:c.940G>A, NM_170726.2:c.940G>A, NM_001161504.2:c.760G>A, NM_001161504.1:c.760G>A, NM_001319218.2:c.940G>A, NM_001319218.1:c.940G>A, NP_003739.2:p.Glu314Lys, NP_733844.1:p.Glu314Lys, NP_001154976.1:p.Glu254Lys, NP_001306147.1:p.Glu314Lys

Select item 146539841515.

rs1465398415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18872854 (GRCh38)
1:19199348 (GRCh37)
Canonical SPDI:: NC_000001.11:18872853:G:A
Gene:: ALDH4A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.18872854G>A, NC_000001.10:g.19199348G>A, NG_012283.1:g.34946C>T, NM_003748.4:c.1683C>T, NM_003748.3:c.1683C>T, NM_170726.3:c.1683C>T, NM_170726.2:c.1683C>T, NM_001161504.2:c.1503C>T, NM_001161504.1:c.1503C>T, NM_001319218.2:c.1530C>T, NM_001319218.1:c.1530C>T

Select item 146335205716.

rs1463352057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:18877540 (GRCh38)
1:19204034 (GRCh37)
Canonical SPDI:: NC_000001.11:18877539:C:A
Gene:: ALDH4A1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.18877540C>A, NC_000001.10:g.19204034C>A, NG_012283.1:g.30260G>T, NM_003748.4:c.1013G>T, NM_003748.3:c.1013G>T, NM_170726.3:c.1013G>T, NM_170726.2:c.1013G>T, NM_001161504.2:c.833G>T, NM_001161504.1:c.833G>T, NM_001319218.2:c.1013G>T, NM_001319218.1:c.1013G>T, NP_003739.2:p.Arg338Leu, NP_733844.1:p.Arg338Leu, NP_001154976.1:p.Arg278Leu, NP_001306147.1:p.Arg338Leu

Select item 146291304717.

rs1462913047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18879345 (GRCh38)
1:19205839 (GRCh37)
Canonical SPDI:: NC_000001.11:18879344:C:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.18879345C>T, NC_000001.10:g.19205839C>T, NG_012283.1:g.28455G>A, NM_003748.4:c.895G>A, NM_003748.3:c.895G>A, NM_170726.3:c.895G>A, NM_170726.2:c.895G>A, NM_001161504.2:c.715G>A, NM_001161504.1:c.715G>A, NM_001319218.2:c.895G>A, NM_001319218.1:c.895G>A, NP_003739.2:p.Ala299Thr, NP_733844.1:p.Ala299Thr, NP_001154976.1:p.Ala239Thr, NP_001306147.1:p.Ala299Thr

Select item 146068179918.

rs1460681799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:18881861 (GRCh38)
1:19208355 (GRCh37)
Canonical SPDI:: NC_000001.11:18881860:A:G,NC_000001.11:18881860:A:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.18881861A>G, NC_000001.11:g.18881861A>T, NC_000001.10:g.19208355A>G, NC_000001.10:g.19208355A>T, NG_012283.1:g.25939T>C, NG_012283.1:g.25939T>A, NM_003748.4:c.705T>C, NM_003748.4:c.705T>A, NM_003748.3:c.705T>C, NM_003748.3:c.705T>A, NM_170726.3:c.705T>C, NM_170726.3:c.705T>A, NM_170726.2:c.705T>C, NM_170726.2:c.705T>A, NM_001161504.2:c.525T>C, NM_001161504.2:c.525T>A, NM_001161504.1:c.525T>C, NM_001161504.1:c.525T>A, NM_001319218.2:c.705T>C, NM_001319218.2:c.705T>A, NM_001319218.1:c.705T>C, NM_001319218.1:c.705T>A, NP_003739.2:p.Ser235Arg, NP_733844.1:p.Ser235Arg, NP_001154976.1:p.Ser175Arg, NP_001306147.1:p.Ser235Arg

Select item 146059935419.

rs1460599354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18872937 (GRCh38)
1:19199431 (GRCh37)
Canonical SPDI:: NC_000001.11:18872936:C:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.18872937C>T, NC_000001.10:g.19199431C>T, NG_012283.1:g.34863G>A, NM_003748.4:c.1600G>A, NM_003748.3:c.1600G>A, NM_170726.3:c.1600G>A, NM_170726.2:c.1600G>A, NM_001161504.2:c.1420G>A, NM_001161504.1:c.1420G>A, NM_001319218.2:c.1447G>A, NM_001319218.1:c.1447G>A, NP_003739.2:p.Gly534Ser, NP_733844.1:p.Gly534Ser, NP_001154976.1:p.Gly474Ser, NP_001306147.1:p.Gly483Ser

Select item 145755231520.

rs1457552315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:18889380 (GRCh38)
1:19215874 (GRCh37)
Canonical SPDI:: NC_000001.11:18889379:G:A,NC_000001.11:18889379:G:T
Gene:: ALDH4A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00034/1 (KOREAN)
HGVS:: NC_000001.11:g.18889380G>A, NC_000001.11:g.18889380G>T, NC_000001.10:g.19215874G>A, NC_000001.10:g.19215874G>T, NG_012283.1:g.18420C>T, NG_012283.1:g.18420C>A, NM_003748.4:c.231C>T, NM_003748.4:c.231C>A, NM_003748.3:c.231C>T, NM_003748.3:c.231C>A, NM_170726.3:c.231C>T, NM_170726.3:c.231C>A, NM_170726.2:c.231C>T, NM_170726.2:c.231C>A, NM_001161504.2:c.51C>T, NM_001161504.2:c.51C>A, NM_001161504.1:c.51C>T, NM_001161504.1:c.51C>A, NM_001319218.2:c.231C>T, NM_001319218.2:c.231C>A, NM_001319218.1:c.231C>T, NM_001319218.1:c.231C>A, NP_003739.2:p.Asp77Glu, NP_733844.1:p.Asp77Glu, NP_001154976.1:p.Asp17Glu, NP_001306147.1:p.Asp77Glu

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