SNP Links for Protein (Select 444741728) - SNP

Links from Protein

Items: 1 to 20 of 85

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Select item 14899800091.

rs1489980009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:86227934 (GRCh38)
9:88842849 (GRCh37)
Canonical SPDI:: NC_000009.12:86227933:C:T
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.86227934C>T, NC_000009.11:g.88842849C>T, NM_001276367.4:c.163G>A, NM_001276367.3:c.163G>A, NM_001276367.2:c.163G>A, NM_001276367.1:c.163G>A, NM_001276368.4:c.163G>A, NM_001276368.3:c.163G>A, NM_001276368.2:c.163G>A, NM_001276368.1:c.163G>A, NM_001276366.4:c.163G>A, NM_001276366.3:c.163G>A, NM_001276366.2:c.163G>A, NM_001276366.1:c.163G>A, NM_001010907.1:c.163G>A, NP_001263296.1:p.Glu55Lys, NP_001263297.1:p.Glu55Lys, NP_001263295.1:p.Glu55Lys

Select item 14710614772.

rs1471061477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:86229593 (GRCh38)
9:88844508 (GRCh37)
Canonical SPDI:: NC_000009.12:86229592:G:A
Gene:: C9orf153 (Varview)
Functional Consequence:: 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_000009.12:g.86229593G>A, NC_000009.11:g.88844508G>A, NM_001276367.4:c.11C>T, NM_001276367.3:c.11C>T, NM_001276367.2:c.11C>T, NM_001276367.1:c.11C>T, NM_001276368.4:c.11C>T, NM_001276368.3:c.11C>T, NM_001276368.2:c.11C>T, NM_001276368.1:c.11C>T, NM_001276366.4:c.11C>T, NM_001276366.3:c.11C>T, NM_001276366.2:c.11C>T, NM_001276366.1:c.11C>T, NM_001010907.1:c.11C>T, NP_001263296.1:p.Thr4Ile, NP_001263297.1:p.Thr4Ile, NP_001263295.1:p.Thr4Ile

Select item 14579789513.

rs1457978951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:86228017 (GRCh38)
9:88842932 (GRCh37)
Canonical SPDI:: NC_000009.12:86228016:T:C
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.86228017T>C, NC_000009.11:g.88842932T>C, NM_001276367.4:c.80A>G, NM_001276367.3:c.80A>G, NM_001276367.2:c.80A>G, NM_001276367.1:c.80A>G, NM_001276368.4:c.80A>G, NM_001276368.3:c.80A>G, NM_001276368.2:c.80A>G, NM_001276368.1:c.80A>G, NM_001276366.4:c.80A>G, NM_001276366.3:c.80A>G, NM_001276366.2:c.80A>G, NM_001276366.1:c.80A>G, NM_001010907.1:c.80A>G, NP_001263296.1:p.Tyr27Cys, NP_001263297.1:p.Tyr27Cys, NP_001263295.1:p.Tyr27Cys

Select item 14532464944.

rs1453246494 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:86221710 (GRCh38)
9:88836625 (GRCh37)
Canonical SPDI:: NC_000009.12:86221709:CCC:CC
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86221712del, NC_000009.11:g.88836627del, NM_001276367.4:c.266del, NM_001276367.3:c.266del, NM_001276367.2:c.266del, NM_001276367.1:c.266del, NM_001276368.4:c.266del, NM_001276368.3:c.266del, NM_001276368.2:c.266del, NM_001276368.1:c.266del, NM_001276366.4:c.266del, NM_001276366.3:c.266del, NM_001276366.2:c.266del, NM_001276366.1:c.266del, NP_001263296.1:p.Gly89fs, NP_001263297.1:p.Gly89fs, NP_001263295.1:p.Gly89fs

Select item 14356455405.

rs1435645540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:86229563 (GRCh38)
9:88844478 (GRCh37)
Canonical SPDI:: NC_000009.12:86229562:C:T
Gene:: C9orf153 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86229563C>T, NC_000009.11:g.88844478C>T, NM_001276367.4:c.41G>A, NM_001276367.3:c.41G>A, NM_001276367.2:c.41G>A, NM_001276367.1:c.41G>A, NM_001276368.4:c.41G>A, NM_001276368.3:c.41G>A, NM_001276368.2:c.41G>A, NM_001276368.1:c.41G>A, NM_001276366.4:c.41G>A, NM_001276366.3:c.41G>A, NM_001276366.2:c.41G>A, NM_001276366.1:c.41G>A, NM_001010907.1:c.41G>A, NP_001263296.1:p.Arg14Lys, NP_001263297.1:p.Arg14Lys, NP_001263295.1:p.Arg14Lys

Select item 14310696466.

rs1431069646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:86227925 (GRCh38)
9:88842840 (GRCh37)
Canonical SPDI:: NC_000009.12:86227924:C:A
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86227925C>A, NC_000009.11:g.88842840C>A, NM_001276367.4:c.172G>T, NM_001276367.3:c.172G>T, NM_001276367.2:c.172G>T, NM_001276367.1:c.172G>T, NM_001276368.4:c.172G>T, NM_001276368.3:c.172G>T, NM_001276368.2:c.172G>T, NM_001276368.1:c.172G>T, NM_001276366.4:c.172G>T, NM_001276366.3:c.172G>T, NM_001276366.2:c.172G>T, NM_001276366.1:c.172G>T, NM_001010907.1:c.172G>T, NP_001263296.1:p.Ala58Ser, NP_001263297.1:p.Ala58Ser, NP_001263295.1:p.Ala58Ser

Select item 14190675747.

rs1419067574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:86227896 (GRCh38)
9:88842811 (GRCh37)
Canonical SPDI:: NC_000009.12:86227895:G:A
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.86227896G>A, NC_000009.11:g.88842811G>A, NM_001276367.4:c.201C>T, NM_001276367.3:c.201C>T, NM_001276367.2:c.201C>T, NM_001276367.1:c.201C>T, NM_001276368.4:c.201C>T, NM_001276368.3:c.201C>T, NM_001276368.2:c.201C>T, NM_001276368.1:c.201C>T, NM_001276366.4:c.201C>T, NM_001276366.3:c.201C>T, NM_001276366.2:c.201C>T, NM_001276366.1:c.201C>T, NM_001010907.1:c.201C>T

Select item 14101133028.

rs1410113302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:86229550 (GRCh38)
9:88844465 (GRCh37)
Canonical SPDI:: NC_000009.12:86229549:A:G
Gene:: C9orf153 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.000064/17 (TOPMED)
HGVS:: NC_000009.12:g.86229550A>G, NC_000009.11:g.88844465A>G, NM_001276367.4:c.54T>C, NM_001276367.3:c.54T>C, NM_001276367.2:c.54T>C, NM_001276367.1:c.54T>C, NM_001276368.4:c.54T>C, NM_001276368.3:c.54T>C, NM_001276368.2:c.54T>C, NM_001276368.1:c.54T>C, NM_001276366.4:c.54T>C, NM_001276366.3:c.54T>C, NM_001276366.2:c.54T>C, NM_001276366.1:c.54T>C, NM_001010907.1:c.54T>C

Select item 14042300859.

rs1404230085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:86227859 (GRCh38)
9:88842774 (GRCh37)
Canonical SPDI:: NC_000009.12:86227858:T:C
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.86227859T>C, NC_000009.11:g.88842774T>C, NM_001276367.4:c.238A>G, NM_001276367.3:c.238A>G, NM_001276367.2:c.238A>G, NM_001276367.1:c.238A>G, NM_001276368.4:c.238A>G, NM_001276368.3:c.238A>G, NM_001276368.2:c.238A>G, NM_001276368.1:c.238A>G, NM_001276366.4:c.238A>G, NM_001276366.3:c.238A>G, NM_001276366.2:c.238A>G, NM_001276366.1:c.238A>G, NM_001010907.1:c.238A>G, NP_001263296.1:p.Ile80Val, NP_001263297.1:p.Ile80Val, NP_001263295.1:p.Ile80Val

Select item 139871022110.

rs1398710221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:86229554 (GRCh38)
9:88844469 (GRCh37)
Canonical SPDI:: NC_000009.12:86229553:G:A
Gene:: C9orf153 (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=0.000008/2 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000009.12:g.86229554G>A, NC_000009.11:g.88844469G>A, NM_001276367.4:c.50C>T, NM_001276367.3:c.50C>T, NM_001276367.2:c.50C>T, NM_001276367.1:c.50C>T, NM_001276368.4:c.50C>T, NM_001276368.3:c.50C>T, NM_001276368.2:c.50C>T, NM_001276368.1:c.50C>T, NM_001276366.4:c.50C>T, NM_001276366.3:c.50C>T, NM_001276366.2:c.50C>T, NM_001276366.1:c.50C>T, NM_001010907.1:c.50C>T, NP_001263296.1:p.Thr17Ile, NP_001263297.1:p.Thr17Ile, NP_001263295.1:p.Thr17Ile

Select item 139531656111.

rs1395316561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:86227870 (GRCh38)
9:88842785 (GRCh37)
Canonical SPDI:: NC_000009.12:86227869:A:G
Gene:: C9orf153 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.86227870A>G, NC_000009.11:g.88842785A>G, NM_001276367.4:c.227T>C, NM_001276367.3:c.227T>C, NM_001276367.2:c.227T>C, NM_001276367.1:c.227T>C, NM_001276368.4:c.227T>C, NM_001276368.3:c.227T>C, NM_001276368.2:c.227T>C, NM_001276368.1:c.227T>C, NM_001276366.4:c.227T>C, NM_001276366.3:c.227T>C, NM_001276366.2:c.227T>C, NM_001276366.1:c.227T>C, NM_001010907.1:c.227T>C, NP_001263296.1:p.Leu76Pro, NP_001263297.1:p.Leu76Pro, NP_001263295.1:p.Leu76Pro

Select item 138734586712.

rs1387345867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:86227937 (GRCh38)
9:88842852 (GRCh37)
Canonical SPDI:: NC_000009.12:86227936:G:A
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86227937G>A, NC_000009.11:g.88842852G>A, NM_001276367.4:c.160C>T, NM_001276367.3:c.160C>T, NM_001276367.2:c.160C>T, NM_001276367.1:c.160C>T, NM_001276368.4:c.160C>T, NM_001276368.3:c.160C>T, NM_001276368.2:c.160C>T, NM_001276368.1:c.160C>T, NM_001276366.4:c.160C>T, NM_001276366.3:c.160C>T, NM_001276366.2:c.160C>T, NM_001276366.1:c.160C>T, NM_001010907.1:c.160C>T, NP_001263296.1:p.Gln54Ter, NP_001263297.1:p.Gln54Ter, NP_001263295.1:p.Gln54Ter

Select item 137621275213.

rs1376212752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:86229591 (GRCh38)
9:88844506 (GRCh37)
Canonical SPDI:: NC_000009.12:86229590:C:T
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.86229591C>T, NC_000009.11:g.88844506C>T, NM_001276367.4:c.13G>A, NM_001276367.3:c.13G>A, NM_001276367.2:c.13G>A, NM_001276367.1:c.13G>A, NM_001276368.4:c.13G>A, NM_001276368.3:c.13G>A, NM_001276368.2:c.13G>A, NM_001276368.1:c.13G>A, NM_001276366.4:c.13G>A, NM_001276366.3:c.13G>A, NM_001276366.2:c.13G>A, NM_001276366.1:c.13G>A, NM_001010907.1:c.13G>A, NP_001263296.1:p.Gly5Arg, NP_001263297.1:p.Gly5Arg, NP_001263295.1:p.Gly5Arg

Select item 137562927714.

rs1375629277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:86228013 (GRCh38)
9:88842928 (GRCh37)
Canonical SPDI:: NC_000009.12:86228012:T:C,NC_000009.12:86228012:T:G
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.86228013T>C, NC_000009.12:g.86228013T>G, NC_000009.11:g.88842928T>C, NC_000009.11:g.88842928T>G, NM_001276367.4:c.84A>G, NM_001276367.4:c.84A>C, NM_001276367.3:c.84A>G, NM_001276367.3:c.84A>C, NM_001276367.2:c.84A>G, NM_001276367.2:c.84A>C, NM_001276367.1:c.84A>G, NM_001276367.1:c.84A>C, NM_001276368.4:c.84A>G, NM_001276368.4:c.84A>C, NM_001276368.3:c.84A>G, NM_001276368.3:c.84A>C, NM_001276368.2:c.84A>G, NM_001276368.2:c.84A>C, NM_001276368.1:c.84A>G, NM_001276368.1:c.84A>C, NM_001276366.4:c.84A>G, NM_001276366.4:c.84A>C, NM_001276366.3:c.84A>G, NM_001276366.3:c.84A>C, NM_001276366.2:c.84A>G, NM_001276366.2:c.84A>C, NM_001276366.1:c.84A>G, NM_001276366.1:c.84A>C, NM_001010907.1:c.84A>G, NM_001010907.1:c.84A>C

Select item 137192420715.

rs1371924207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:86228014 (GRCh38)
9:88842929 (GRCh37)
Canonical SPDI:: NC_000009.12:86228013:G:T
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000009.12:g.86228014G>T, NC_000009.11:g.88842929G>T, NM_001276367.4:c.83C>A, NM_001276367.3:c.83C>A, NM_001276367.2:c.83C>A, NM_001276367.1:c.83C>A, NM_001276368.4:c.83C>A, NM_001276368.3:c.83C>A, NM_001276368.2:c.83C>A, NM_001276368.1:c.83C>A, NM_001276366.4:c.83C>A, NM_001276366.3:c.83C>A, NM_001276366.2:c.83C>A, NM_001276366.1:c.83C>A, NM_001010907.1:c.83C>A, NP_001263296.1:p.Ala28Glu, NP_001263297.1:p.Ala28Glu, NP_001263295.1:p.Ala28Glu

Select item 137081780916.

rs1370817809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:86227922 (GRCh38)
9:88842837 (GRCh37)
Canonical SPDI:: NC_000009.12:86227921:T:C
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86227922T>C, NC_000009.11:g.88842837T>C, NM_001276367.4:c.175A>G, NM_001276367.3:c.175A>G, NM_001276367.2:c.175A>G, NM_001276367.1:c.175A>G, NM_001276368.4:c.175A>G, NM_001276368.3:c.175A>G, NM_001276368.2:c.175A>G, NM_001276368.1:c.175A>G, NM_001276366.4:c.175A>G, NM_001276366.3:c.175A>G, NM_001276366.2:c.175A>G, NM_001276366.1:c.175A>G, NM_001010907.1:c.175A>G, NP_001263296.1:p.Arg59Gly, NP_001263297.1:p.Arg59Gly, NP_001263295.1:p.Arg59Gly

Select item 135031598117.

rs1350315981 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 9:86227877 (GRCh38)
9:88842792 (GRCh37)
Canonical SPDI:: NC_000009.12:86227873:CTCCTC:CTC
Gene:: C9orf153 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.86227874CTC[1], NC_000009.11:g.88842789CTC[1], NM_001276367.4:c.218GAG[1], NM_001276367.3:c.218GAG[1], NM_001276367.2:c.218GAG[1], NM_001276367.1:c.218GAG[1], NM_001276368.4:c.218GAG[1], NM_001276368.3:c.218GAG[1], NM_001276368.2:c.218GAG[1], NM_001276368.1:c.218GAG[1], NM_001276366.4:c.218GAG[1], NM_001276366.3:c.218GAG[1], NM_001276366.2:c.218GAG[1], NM_001276366.1:c.218GAG[1], NM_001010907.1:c.218GAG[1], NP_001263296.1:p.Gly74del, NP_001263297.1:p.Gly74del, NP_001263295.1:p.Gly74del

Select item 132653472718.

rs1326534727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:86227989 (GRCh38)
9:88842904 (GRCh37)
Canonical SPDI:: NC_000009.12:86227988:C:G
Gene:: C9orf153 (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_000009.12:g.86227989C>G, NC_000009.11:g.88842904C>G, NM_001276367.4:c.108G>C, NM_001276367.3:c.108G>C, NM_001276367.2:c.108G>C, NM_001276367.1:c.108G>C, NM_001276368.4:c.108G>C, NM_001276368.3:c.108G>C, NM_001276368.2:c.108G>C, NM_001276368.1:c.108G>C, NM_001276366.4:c.108G>C, NM_001276366.3:c.108G>C, NM_001276366.2:c.108G>C, NM_001276366.1:c.108G>C, NM_001010907.1:c.108G>C, NP_001263296.1:p.Glu36Asp, NP_001263297.1:p.Glu36Asp, NP_001263295.1:p.Glu36Asp

Select item 132128868619.

rs1321288686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:86221700 (GRCh38)
9:88836615 (GRCh37)
Canonical SPDI:: NC_000009.12:86221699:C:T
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.86221700C>T, NC_000009.11:g.88836615C>T, NM_001276367.4:c.276G>A, NM_001276367.3:c.276G>A, NM_001276367.2:c.276G>A, NM_001276367.1:c.276G>A, NM_001276368.4:c.276G>A, NM_001276368.3:c.276G>A, NM_001276368.2:c.276G>A, NM_001276368.1:c.276G>A, NM_001276366.4:c.276G>A, NM_001276366.3:c.276G>A, NM_001276366.2:c.276G>A, NM_001276366.1:c.276G>A, NP_001263296.1:p.Met92Ile, NP_001263297.1:p.Met92Ile, NP_001263295.1:p.Met92Ile

Select item 132105133120.

rs1321051331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:86228021 (GRCh38)
9:88842936 (GRCh37)
Canonical SPDI:: NC_000009.12:86228020:A:T
Gene:: C9orf153 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.86228021A>T, NC_000009.11:g.88842936A>T, NM_001276367.4:c.76T>A, NM_001276367.3:c.76T>A, NM_001276367.2:c.76T>A, NM_001276367.1:c.76T>A, NM_001276368.4:c.76T>A, NM_001276368.3:c.76T>A, NM_001276368.2:c.76T>A, NM_001276368.1:c.76T>A, NM_001276366.4:c.76T>A, NM_001276366.3:c.76T>A, NM_001276366.2:c.76T>A, NM_001276366.1:c.76T>A, NM_001010907.1:c.76T>A, NP_001263296.1:p.Leu26Ile, NP_001263297.1:p.Leu26Ile, NP_001263295.1:p.Leu26Ile

dbSNP

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