SNP Links for Protein (Select 428978474) - SNP

Links from Protein

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Select item 14794852591.

rs1479485259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:67202881 (GRCh38)
15:67495219 (GRCh37)
Canonical SPDI:: NC_000015.10:67202880:C:A,NC_000015.10:67202880:C:G,NC_000015.10:67202880:C:T
Gene:: AAGAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.67202881C>A, NC_000015.10:g.67202881C>G, NC_000015.10:g.67202881C>T, NC_000015.9:g.67495219C>A, NC_000015.9:g.67495219C>G, NC_000015.9:g.67495219C>T, NG_033007.1:g.57318G>T, NG_033007.1:g.57318G>C, NG_033007.1:g.57318G>A, NM_024666.5:c.888G>T, NM_024666.5:c.888G>C, NM_024666.5:c.888G>A, NM_024666.4:c.888G>T, NM_024666.4:c.888G>C, NM_024666.4:c.888G>A, NM_001271886.2:c.561G>T, NM_001271886.2:c.561G>C, NM_001271886.2:c.561G>A, NM_001271886.1:c.561G>T, NM_001271886.1:c.561G>C, NM_001271886.1:c.561G>A, NM_001271885.2:c.561G>T, NM_001271885.2:c.561G>C, NM_001271885.2:c.561G>A, NM_001271885.1:c.561G>T, NM_001271885.1:c.561G>C, NM_001271885.1:c.561G>A, NP_078942.3:p.Trp296Cys, NP_078942.3:p.Trp296Cys, NP_078942.3:p.Trp296Ter, NP_001258815.1:p.Trp187Cys, NP_001258815.1:p.Trp187Cys, NP_001258815.1:p.Trp187Ter, NP_001258814.1:p.Trp187Cys, NP_001258814.1:p.Trp187Cys, NP_001258814.1:p.Trp187Ter

Select item 14758891052.

rs1475889105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:67202886 (GRCh38)
15:67495224 (GRCh37)
Canonical SPDI:: NC_000015.10:67202885:A:C
Gene:: AAGAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.67202886A>C, NC_000015.9:g.67495224A>C, NG_033007.1:g.57313T>G, NM_024666.5:c.883T>G, NM_024666.4:c.883T>G, NM_001271886.2:c.556T>G, NM_001271886.1:c.556T>G, NM_001271885.2:c.556T>G, NM_001271885.1:c.556T>G, NP_078942.3:p.Phe295Val, NP_001258815.1:p.Phe186Val, NP_001258814.1:p.Phe186Val

Select item 14676749053.

rs1467674905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:67203597 (GRCh38)
15:67495935 (GRCh37)
Canonical SPDI:: NC_000015.10:67203596:T:C
Gene:: AAGAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.67203597T>C, NC_000015.9:g.67495935T>C, NG_033007.1:g.56602A>G, NM_024666.5:c.821A>G, NM_024666.4:c.821A>G, NM_001271886.2:c.494A>G, NM_001271886.1:c.494A>G, NM_001271885.2:c.494A>G, NM_001271885.1:c.494A>G, NP_078942.3:p.Asp274Gly, NP_001258815.1:p.Asp165Gly, NP_001258814.1:p.Asp165Gly

Select item 14642942614.

rs1464294261 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:67231815 (GRCh38)
15:67524153 (GRCh37)
Canonical SPDI:: NC_000015.10:67231814:A:
Gene:: AAGAB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67231815del, NC_000015.9:g.67524153del, NG_033007.1:g.28384del, NM_024666.5:c.534del, NM_024666.4:c.534del, NM_001271886.2:c.207del, NM_001271886.1:c.207del, NM_001271885.2:c.207del, NM_001271885.1:c.207del, XM_024450052.2:c.534del, XM_024450052.1:c.534del, XM_024450053.2:c.534del, XM_024450053.1:c.534del, XR_007064489.1:n.564del, NP_078942.3:p.Asn178fs, NP_001258815.1:p.Asn69fs, NP_001258814.1:p.Asn69fs, XP_024305820.1:p.Asn178fs, XP_024305821.1:p.Asn178fs

Select item 14630092165.

rs1463009216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:67202822 (GRCh38)
15:67495160 (GRCh37)
Canonical SPDI:: NC_000015.10:67202821:C:T
Gene:: AAGAB (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67202822C>T, NC_000015.9:g.67495160C>T, NG_033007.1:g.57377G>A, NM_024666.5:c.947G>A, NM_024666.4:c.947G>A, NM_001271886.2:c.620G>A, NM_001271886.1:c.620G>A, NM_001271885.2:c.620G>A, NM_001271885.1:c.620G>A

Select item 14509853066.

rs1450985306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:67236020 (GRCh38)
15:67528358 (GRCh37)
Canonical SPDI:: NC_000015.10:67236019:T:C
Gene:: AAGAB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67236020T>C, NC_000015.9:g.67528358T>C, NG_033007.1:g.24179A>G, NM_024666.5:c.410A>G, NM_024666.4:c.410A>G, NM_001271886.2:c.83A>G, NM_001271886.1:c.83A>G, NM_001271885.2:c.83A>G, NM_001271885.1:c.83A>G, XM_024450052.2:c.410A>G, XM_024450052.1:c.410A>G, XM_024450053.2:c.410A>G, XM_024450053.1:c.410A>G, XR_007064489.1:n.440A>G, NP_078942.3:p.Glu137Gly, NP_001258815.1:p.Glu28Gly, NP_001258814.1:p.Glu28Gly, XP_024305820.1:p.Glu137Gly, XP_024305821.1:p.Glu137Gly

Select item 14398468527.

rs1439846852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:67204136 (GRCh38)
15:67496474 (GRCh37)
Canonical SPDI:: NC_000015.10:67204135:T:C
Gene:: AAGAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67204136T>C, NC_000015.9:g.67496474T>C, NG_033007.1:g.56063A>G, NM_024666.5:c.728A>G, NM_024666.4:c.728A>G, NM_001271886.2:c.401A>G, NM_001271886.1:c.401A>G, NM_001271885.2:c.401A>G, NM_001271885.1:c.401A>G, NP_078942.3:p.Asp243Gly, NP_001258815.1:p.Asp134Gly, NP_001258814.1:p.Asp134Gly

Select item 14343826568.

rs1434382656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:67202896 (GRCh38)
15:67495234 (GRCh37)
Canonical SPDI:: NC_000015.10:67202895:C:T
Gene:: AAGAB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,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_000015.10:g.67202896C>T, NC_000015.9:g.67495234C>T, NG_033007.1:g.57303G>A, NM_024666.5:c.873G>A, NM_024666.4:c.873G>A, NM_001271886.2:c.546G>A, NM_001271886.1:c.546G>A, NM_001271885.2:c.546G>A, NM_001271885.1:c.546G>A

Select item 14326447059.

rs1432644705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:67208568 (GRCh38)
15:67500906 (GRCh37)
Canonical SPDI:: NC_000015.10:67208567:T:C
Gene:: AAGAB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67208568T>C, NC_000015.9:g.67500906T>C, NG_033007.1:g.51631A>G, NM_024666.5:c.709A>G, NM_024666.4:c.709A>G, NM_001271886.2:c.382A>G, NM_001271886.1:c.382A>G, NM_001271885.2:c.382A>G, NM_001271885.1:c.382A>G, NP_078942.3:p.Ile237Val, NP_001258815.1:p.Ile128Val, NP_001258814.1:p.Ile128Val

Select item 143257665410.

rs1432576654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:67236047 (GRCh38)
15:67528385 (GRCh37)
Canonical SPDI:: NC_000015.10:67236046:T:A
Gene:: AAGAB (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67236047T>A, NC_000015.9:g.67528385T>A, NG_033007.1:g.24152A>T, NM_024666.5:c.383A>T, NM_024666.4:c.383A>T, NM_001271886.2:c.56A>T, NM_001271886.1:c.56A>T, NM_001271885.2:c.56A>T, NM_001271885.1:c.56A>T, XM_024450052.2:c.383A>T, XM_024450052.1:c.383A>T, XM_024450053.2:c.383A>T, XM_024450053.1:c.383A>T, XR_007064489.1:n.413A>T, NP_078942.3:p.Gln128Leu, NP_001258815.1:p.Gln19Leu, NP_001258814.1:p.Gln19Leu, XP_024305820.1:p.Gln128Leu, XP_024305821.1:p.Gln128Leu

Select item 142888797011.

rs1428887970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:67208616 (GRCh38)
15:67500954 (GRCh37)
Canonical SPDI:: NC_000015.10:67208615:C:G
Gene:: AAGAB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.67208616C>G, NC_000015.9:g.67500954C>G, NG_033007.1:g.51583G>C, NM_024666.5:c.661G>C, NM_024666.4:c.661G>C, NM_001271886.2:c.334G>C, NM_001271886.1:c.334G>C, NM_001271885.2:c.334G>C, NM_001271885.1:c.334G>C, NP_078942.3:p.Asp221His, NP_001258815.1:p.Asp112His, NP_001258814.1:p.Asp112His

Select item 142843838112.

rs1428438381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:67231869 (GRCh38)
15:67524207 (GRCh37)
Canonical SPDI:: NC_000015.10:67231868:C:T
Gene:: AAGAB (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.67231869C>T, NC_000015.9:g.67524207C>T, NG_033007.1:g.28330G>A, NM_024666.5:c.480G>A, NM_024666.4:c.480G>A, NM_001271886.2:c.153G>A, NM_001271886.1:c.153G>A, NM_001271885.2:c.153G>A, NM_001271885.1:c.153G>A, XM_024450052.2:c.480G>A, XM_024450052.1:c.480G>A, XM_024450053.2:c.480G>A, XM_024450053.1:c.480G>A, XR_007064489.1:n.510G>A

Select item 142657563113.

rs1426575631 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:67204070 (GRCh38)
15:67496408 (GRCh37)
Canonical SPDI:: NC_000015.10:67204067:AGAG:AG
Gene:: AAGAB (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.67204068AG[1], NC_000015.9:g.67496406AG[1], NG_033007.1:g.56128CT[1], NM_024666.5:c.795_796del, NM_024666.4:c.795_796del, NM_001271886.2:c.468_469del, NM_001271886.1:c.468_469del, NM_001271885.2:c.468_469del, NM_001271885.1:c.468_469del, NP_078942.3:p.Ser267fs, NP_001258815.1:p.Ser158fs, NP_001258814.1:p.Ser158fs

Select item 142542473214.

rs1425424732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:67209476 (GRCh38)
15:67501814 (GRCh37)
Canonical SPDI:: NC_000015.10:67209475:G:C
Gene:: AAGAB (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67209476G>C, NC_000015.9:g.67501814G>C, NG_033007.1:g.50723C>G, NM_024666.5:c.604C>G, NM_024666.4:c.604C>G, NM_001271886.2:c.277C>G, NM_001271886.1:c.277C>G, NM_001271885.2:c.277C>G, NM_001271885.1:c.277C>G, XM_024450053.2:c.*69C>G, XR_007064489.1:n.787C>G, NP_078942.3:p.Pro202Ala, NP_001258815.1:p.Pro93Ala, NP_001258814.1:p.Pro93Ala

Select item 142499775215.

rs1424997752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:67202828 (GRCh38)
15:67495166 (GRCh37)
Canonical SPDI:: NC_000015.10:67202827:T:C
Gene:: AAGAB (Varview)
Functional Consequence:: genic_downstream_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=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.67202828T>C, NC_000015.9:g.67495166T>C, NG_033007.1:g.57371A>G, NM_024666.5:c.941A>G, NM_024666.4:c.941A>G, NM_001271886.2:c.614A>G, NM_001271886.1:c.614A>G, NM_001271885.2:c.614A>G, NM_001271885.1:c.614A>G, NP_078942.3:p.Glu314Gly, NP_001258815.1:p.Glu205Gly, NP_001258814.1:p.Glu205Gly

Select item 142077441516.

rs1420774415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:67236057 (GRCh38)
15:67528395 (GRCh37)
Canonical SPDI:: NC_000015.10:67236056:G:C,NC_000015.10:67236056:G:T
Gene:: AAGAB (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.67236057G>C, NC_000015.10:g.67236057G>T, NC_000015.9:g.67528395G>C, NC_000015.9:g.67528395G>T, NG_033007.1:g.24142C>G, NG_033007.1:g.24142C>A, NM_024666.5:c.373C>G, NM_024666.5:c.373C>A, NM_024666.4:c.373C>G, NM_024666.4:c.373C>A, NM_001271886.2:c.46C>G, NM_001271886.2:c.46C>A, NM_001271886.1:c.46C>G, NM_001271886.1:c.46C>A, NM_001271885.2:c.46C>G, NM_001271885.2:c.46C>A, NM_001271885.1:c.46C>G, NM_001271885.1:c.46C>A, XM_024450052.2:c.373C>G, XM_024450052.2:c.373C>A, XM_024450052.1:c.373C>G, XM_024450052.1:c.373C>A, XM_024450053.2:c.373C>G, XM_024450053.2:c.373C>A, XM_024450053.1:c.373C>G, XM_024450053.1:c.373C>A, XR_007064489.1:n.403C>G, XR_007064489.1:n.403C>A, NP_078942.3:p.Gln125Glu, NP_078942.3:p.Gln125Lys, NP_001258815.1:p.Gln16Glu, NP_001258815.1:p.Gln16Lys, NP_001258814.1:p.Gln16Glu, NP_001258814.1:p.Gln16Lys, XP_024305820.1:p.Gln125Glu, XP_024305820.1:p.Gln125Lys, XP_024305821.1:p.Gln125Glu, XP_024305821.1:p.Gln125Lys

Select item 141848784517.

rs1418487845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:67209470 (GRCh38)
15:67501808 (GRCh37)
Canonical SPDI:: NC_000015.10:67209469:G:A
Gene:: AAGAB (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67209470G>A, NC_000015.9:g.67501808G>A, NG_033007.1:g.50729C>T, NM_024666.5:c.610C>T, NM_024666.4:c.610C>T, NM_001271886.2:c.283C>T, NM_001271886.1:c.283C>T, NM_001271885.2:c.283C>T, NM_001271885.1:c.283C>T, XR_007064489.1:n.793C>T, NP_078942.3:p.His204Tyr, NP_001258815.1:p.His95Tyr, NP_001258814.1:p.His95Tyr

Select item 141503274118.

rs1415032741 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:67208605 (GRCh38)
15:67500944 (GRCh37)
Canonical SPDI:: NC_000015.10:67208605:CCCC:CCCCC
Gene:: AAGAB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.67208609dup, NC_000015.9:g.67500947dup, NG_033007.1:g.51593dup, NM_024666.5:c.671dup, NM_024666.4:c.671dup, NM_001271886.2:c.344dup, NM_001271886.1:c.344dup, NM_001271885.2:c.344dup, NM_001271885.1:c.344dup, NP_078942.3:p.Gly225fs, NP_001258815.1:p.Gly116fs, NP_001258814.1:p.Gly116fs

Select item 141203962719.

rs1412039627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:67231895 (GRCh38)
15:67524233 (GRCh37)
Canonical SPDI:: NC_000015.10:67231894:C:G,NC_000015.10:67231894:C:T
Gene:: AAGAB (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 (TOPMED)
HGVS:: NC_000015.10:g.67231895C>G, NC_000015.10:g.67231895C>T, NC_000015.9:g.67524233C>G, NC_000015.9:g.67524233C>T, NG_033007.1:g.28304G>C, NG_033007.1:g.28304G>A, NM_024666.5:c.454G>C, NM_024666.5:c.454G>A, NM_024666.4:c.454G>C, NM_024666.4:c.454G>A, NM_001271886.2:c.127G>C, NM_001271886.2:c.127G>A, NM_001271886.1:c.127G>C, NM_001271886.1:c.127G>A, NM_001271885.2:c.127G>C, NM_001271885.2:c.127G>A, NM_001271885.1:c.127G>C, NM_001271885.1:c.127G>A, XM_024450052.2:c.454G>C, XM_024450052.2:c.454G>A, XM_024450052.1:c.454G>C, XM_024450052.1:c.454G>A, XM_024450053.2:c.454G>C, XM_024450053.2:c.454G>A, XM_024450053.1:c.454G>C, XM_024450053.1:c.454G>A, XR_007064489.1:n.484G>C, XR_007064489.1:n.484G>A, NP_078942.3:p.Asp152His, NP_078942.3:p.Asp152Asn, NP_001258815.1:p.Asp43His, NP_001258815.1:p.Asp43Asn, NP_001258814.1:p.Asp43His, NP_001258814.1:p.Asp43Asn, XP_024305820.1:p.Asp152His, XP_024305820.1:p.Asp152Asn, XP_024305821.1:p.Asp152His, XP_024305821.1:p.Asp152Asn

Select item 140880106920.

rs1408801069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:67231829 (GRCh38)
15:67524167 (GRCh37)
Canonical SPDI:: NC_000015.10:67231828:C:T
Gene:: AAGAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.67231829C>T, NC_000015.9:g.67524167C>T, NG_033007.1:g.28370G>A, NM_024666.5:c.520G>A, NM_024666.4:c.520G>A, NM_001271886.2:c.193G>A, NM_001271886.1:c.193G>A, NM_001271885.2:c.193G>A, NM_001271885.1:c.193G>A, XM_024450052.2:c.520G>A, XM_024450052.1:c.520G>A, XM_024450053.2:c.520G>A, XM_024450053.1:c.520G>A, XR_007064489.1:n.550G>A, NP_078942.3:p.Val174Ile, NP_001258815.1:p.Val65Ile, NP_001258814.1:p.Val65Ile, XP_024305820.1:p.Val174Ile, XP_024305821.1:p.Val174Ile

dbSNP

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