SNP Links for Protein (Select 14165400) - SNP

Links from Protein

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Select item 14881360411.

rs1488136041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140788499 (GRCh38)
5:140168084 (GRCh37)
Canonical SPDI:: NC_000005.10:140788498:C:G,NC_000005.10:140788498:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: intron_variant,missense_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_000005.10:g.140788499C>G, NC_000005.10:g.140788499C>T, NC_000005.9:g.140168084C>G, NC_000005.9:g.140168084C>T, NG_000016.2:g.54372C>G, NG_000016.2:g.54372C>T, NW_025791778.1:g.23675C>G, NW_025791778.1:g.23675C>T, NW_004775428.1:g.23675C>G, NW_004775428.1:g.23675C>T, NM_018900.4:c.2209C>G, NM_018900.4:c.2209C>T, NM_018900.3:c.2209C>G, NM_018900.3:c.2209C>T, NM_018900.2:c.2209C>G, NM_018900.2:c.2209C>T, NM_031410.2:c.2209C>G, NM_031410.2:c.2209C>T, NM_031410.1:c.2209C>G, NM_031410.1:c.2209C>T, NP_061723.1:p.Pro737Ala, NP_061723.1:p.Pro737Ser, NP_113598.1:p.Pro737Ala, NP_113598.1:p.Pro737Ser

Select item 14877864622.

rs1487786462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140788408 (GRCh38)
5:140167993 (GRCh37)
Canonical SPDI:: NC_000005.10:140788407:G:A
Gene:: PCDHA1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.140788408G>A, NC_000005.9:g.140167993G>A, NG_000016.2:g.54281G>A, NW_025791778.1:g.23584G>A, NW_004775428.1:g.23584G>A, NM_018900.4:c.2118G>A, NM_018900.3:c.2118G>A, NM_018900.2:c.2118G>A, NM_031410.2:c.2118G>A, NM_031410.1:c.2118G>A

Select item 14857475673.

rs1485747567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140787686 (GRCh38)
5:140167271 (GRCh37)
Canonical SPDI:: NC_000005.10:140787685:G:A
Gene:: PCDHA1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140787686G>A, NC_000005.9:g.140167271G>A, NG_000016.2:g.53559G>A, NW_025791778.1:g.22862G>A, NW_004775428.1:g.22862G>A, NM_018900.4:c.1396G>A, NM_018900.3:c.1396G>A, NM_018900.2:c.1396G>A, NM_031411.3:c.1396G>A, NM_031411.2:c.1396G>A, NM_031411.1:c.1396G>A, NM_031410.2:c.1396G>A, NM_031410.1:c.1396G>A, NP_061723.1:p.Glu466Lys, NP_113599.1:p.Glu466Lys, NP_113598.1:p.Glu466Lys

Select item 14827126764.

rs1482712676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140786389 (GRCh38)
5:140165974 (GRCh37)
Canonical SPDI:: NC_000005.10:140786388:C:G,NC_000005.10:140786388:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.140786389C>G, NC_000005.10:g.140786389C>T, NC_000005.9:g.140165974C>G, NC_000005.9:g.140165974C>T, NG_000016.2:g.52262C>G, NG_000016.2:g.52262C>T, NW_025791778.1:g.21565C>G, NW_025791778.1:g.21565C>T, NW_004775428.1:g.21565C>G, NW_004775428.1:g.21565C>T, NM_018900.4:c.99C>G, NM_018900.4:c.99C>T, NM_018900.3:c.99C>G, NM_018900.3:c.99C>T, NM_018900.2:c.99C>G, NM_018900.2:c.99C>T, NM_031411.3:c.99C>G, NM_031411.3:c.99C>T, NM_031411.2:c.99C>G, NM_031411.2:c.99C>T, NM_031411.1:c.99C>G, NM_031411.1:c.99C>T, NM_031410.2:c.99C>G, NM_031410.2:c.99C>T, NM_031410.1:c.99C>G, NM_031410.1:c.99C>T, NP_061723.1:p.Tyr33Ter, NP_113599.1:p.Tyr33Ter, NP_113598.1:p.Tyr33Ter

Select item 14760653585.

rs1476065358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:140788189 (GRCh38)
5:140167774 (GRCh37)
Canonical SPDI:: NC_000005.10:140788188:G:C
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000566/9 (TOMMO)
HGVS:: NC_000005.10:g.140788189G>C, NC_000005.9:g.140167774G>C, NG_000016.2:g.54062G>C, NW_025791778.1:g.23365G>C, NW_004775428.1:g.23365G>C, NM_018900.4:c.1899G>C, NM_018900.3:c.1899G>C, NM_018900.2:c.1899G>C, NM_031410.2:c.1899G>C, NM_031410.1:c.1899G>C

Select item 14756254986.

rs1475625498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140786825 (GRCh38)
5:140166410 (GRCh37)
Canonical SPDI:: NC_000005.10:140786824:T:C
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140786825T>C, NC_000005.9:g.140166410T>C, NG_000016.2:g.52698T>C, NW_025791778.1:g.22001T>C, NW_004775428.1:g.22001T>C, NM_018900.4:c.535T>C, NM_018900.3:c.535T>C, NM_018900.2:c.535T>C, NM_031411.3:c.535T>C, NM_031411.2:c.535T>C, NM_031411.1:c.535T>C, NM_031410.2:c.535T>C, NM_031410.1:c.535T>C, NP_061723.1:p.Ser179Pro, NP_113599.1:p.Ser179Pro, NP_113598.1:p.Ser179Pro

Select item 14755627457.

rs1475562745 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 5:140787229 (GRCh38)
5:140166814 (GRCh37)
Canonical SPDI:: NC_000005.10:140787228:AAAA:AAA,NC_000005.10:140787228:AAAA:AAAAA
Gene:: PCDHA1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140787232del, NC_000005.10:g.140787232dup, NC_000005.9:g.140166817del, NC_000005.9:g.140166817dup, NG_000016.2:g.53105del, NG_000016.2:g.53105dup, NW_025791778.1:g.22408del, NW_025791778.1:g.22408dup, NW_004775428.1:g.22408del, NW_004775428.1:g.22408dup, NM_018900.4:c.942del, NM_018900.4:c.942dup, NM_018900.3:c.942del, NM_018900.3:c.942dup, NM_018900.2:c.942del, NM_018900.2:c.942dup, NM_031411.3:c.942del, NM_031411.3:c.942dup, NM_031411.2:c.942del, NM_031411.2:c.942dup, NM_031411.1:c.942del, NM_031411.1:c.942dup, NM_031410.2:c.942del, NM_031410.2:c.942dup, NM_031410.1:c.942del, NM_031410.1:c.942dup, NP_061723.1:p.Lys314fs, NP_061723.1:p.Ser315fs, NP_113599.1:p.Lys314fs, NP_113599.1:p.Ser315fs, NP_113598.1:p.Lys314fs, NP_113598.1:p.Ser315fs

Select item 14755111948.

rs1475511194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140788124 (GRCh38)
5:140167709 (GRCh37)
Canonical SPDI:: NC_000005.10:140788123:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.140788124C>T, NC_000005.9:g.140167709C>T, NG_000016.2:g.53997C>T, NW_025791778.1:g.23300C>T, NW_004775428.1:g.23300C>T, NM_018900.4:c.1834C>T, NM_018900.3:c.1834C>T, NM_018900.2:c.1834C>T, NM_031410.2:c.1834C>T, NM_031410.1:c.1834C>T, NP_061723.1:p.Gln612Ter, NP_113598.1:p.Gln612Ter

Select item 14741006549.

rs1474100654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140787493 (GRCh38)
5:140167078 (GRCh37)
Canonical SPDI:: NC_000005.10:140787492:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140787493C>T, NC_000005.9:g.140167078C>T, NG_000016.2:g.53366C>T, NW_025791778.1:g.22669C>T, NW_004775428.1:g.22669C>T, NM_018900.4:c.1203C>T, NM_018900.3:c.1203C>T, NM_018900.2:c.1203C>T, NM_031411.3:c.1203C>T, NM_031411.2:c.1203C>T, NM_031411.1:c.1203C>T, NM_031410.2:c.1203C>T, NM_031410.1:c.1203C>T

Select item 147354563010.

rs1473545630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 5:140787363 (GRCh38)
5:140166949 (GRCh37)
Canonical SPDI:: NC_000005.10:140787363:TAT:TATTAT
Gene:: PCDHA1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0.000071/1 (ALFA)
TAT=0.000014/2 (GnomAD)
TAT=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.140787364_140787366dup, NC_000005.9:g.140166949_140166951dup, NG_000016.2:g.53237_53239dup, NW_025791778.1:g.22540_22542dup, NW_004775428.1:g.22540_22542dup, NM_018900.4:c.1074_1076dup, NM_018900.3:c.1074_1076dup, NM_018900.2:c.1074_1076dup, NM_031411.3:c.1074_1076dup, NM_031411.2:c.1074_1076dup, NM_031411.1:c.1074_1076dup, NM_031410.2:c.1074_1076dup, NM_031410.1:c.1074_1076dup, NP_061723.1:p.Ile359dup, NP_113599.1:p.Ile359dup, NP_113598.1:p.Ile359dup

Select item 147330143711.

rs1473301437 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:140788693 (GRCh38)
5:140168278 (GRCh37)
Canonical SPDI:: NC_000005.10:140788692:AA:A
Gene:: PCDHA1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.140788694del, NC_000005.9:g.140168279del, NG_000016.2:g.54567del, NW_025791778.1:g.23870del, NW_004775428.1:g.23870del, NM_031410.2:c.2404del, NM_031410.1:c.2404del, NP_113598.1:p.Thr802fs

Select item 147146737612.

rs1471467376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:140787913 (GRCh38)
5:140167498 (GRCh37)
Canonical SPDI:: NC_000005.10:140787912:C:A,NC_000005.10:140787912:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.140787913C>A, NC_000005.10:g.140787913C>T, NC_000005.9:g.140167498C>A, NC_000005.9:g.140167498C>T, NG_000016.2:g.53786C>A, NG_000016.2:g.53786C>T, NW_025791778.1:g.23089C>A, NW_025791778.1:g.23089C>T, NW_004775428.1:g.23089C>A, NW_004775428.1:g.23089C>T, NM_018900.4:c.1623C>A, NM_018900.4:c.1623C>T, NM_018900.3:c.1623C>A, NM_018900.3:c.1623C>T, NM_018900.2:c.1623C>A, NM_018900.2:c.1623C>T, NM_031410.2:c.1623C>A, NM_031410.2:c.1623C>T, NM_031410.1:c.1623C>A, NM_031410.1:c.1623C>T

Select item 146908917613.

rs1469089176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:140787050 (GRCh38)
5:140166635 (GRCh37)
Canonical SPDI:: NC_000005.10:140787049:A:G
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140787050A>G, NC_000005.9:g.140166635A>G, NG_000016.2:g.52923A>G, NW_025791778.1:g.22226A>G, NW_004775428.1:g.22226A>G, NM_018900.4:c.760A>G, NM_018900.3:c.760A>G, NM_018900.2:c.760A>G, NM_031411.3:c.760A>G, NM_031411.2:c.760A>G, NM_031411.1:c.760A>G, NM_031410.2:c.760A>G, NM_031410.1:c.760A>G, NP_061723.1:p.Thr254Ala, NP_113599.1:p.Thr254Ala, NP_113598.1:p.Thr254Ala

Select item 146763588914.

rs1467635889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:140787079 (GRCh38)
5:140166664 (GRCh37)
Canonical SPDI:: NC_000005.10:140787078:A:C
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.140787079A>C, NC_000005.9:g.140166664A>C, NG_000016.2:g.52952A>C, NW_025791778.1:g.22255A>C, NW_004775428.1:g.22255A>C, NM_018900.4:c.789A>C, NM_018900.3:c.789A>C, NM_018900.2:c.789A>C, NM_031411.3:c.789A>C, NM_031411.2:c.789A>C, NM_031411.1:c.789A>C, NM_031410.2:c.789A>C, NM_031410.1:c.789A>C

Select item 146272343115.

rs1462723431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:140787462 (GRCh38)
5:140167047 (GRCh37)
Canonical SPDI:: NC_000005.10:140787461:C:A,NC_000005.10:140787461:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000005.10:g.140787462C>A, NC_000005.10:g.140787462C>T, NC_000005.9:g.140167047C>A, NC_000005.9:g.140167047C>T, NG_000016.2:g.53335C>A, NG_000016.2:g.53335C>T, NW_025791778.1:g.22638C>A, NW_025791778.1:g.22638C>T, NW_004775428.1:g.22638C>A, NW_004775428.1:g.22638C>T, NM_018900.4:c.1172C>A, NM_018900.4:c.1172C>T, NM_018900.3:c.1172C>A, NM_018900.3:c.1172C>T, NM_018900.2:c.1172C>A, NM_018900.2:c.1172C>T, NM_031411.3:c.1172C>A, NM_031411.3:c.1172C>T, NM_031411.2:c.1172C>A, NM_031411.2:c.1172C>T, NM_031411.1:c.1172C>A, NM_031411.1:c.1172C>T, NM_031410.2:c.1172C>A, NM_031410.2:c.1172C>T, NM_031410.1:c.1172C>A, NM_031410.1:c.1172C>T, NP_061723.1:p.Pro391His, NP_061723.1:p.Pro391Leu, NP_113599.1:p.Pro391His, NP_113599.1:p.Pro391Leu, NP_113598.1:p.Pro391His, NP_113598.1:p.Pro391Leu

Select item 146219714616.

rs1462197146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140786909 (GRCh38)
5:140166494 (GRCh37)
Canonical SPDI:: NC_000005.10:140786908:G:A
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140786909G>A, NC_000005.9:g.140166494G>A, NG_000016.2:g.52782G>A, NW_025791778.1:g.22085G>A, NW_004775428.1:g.22085G>A, NM_018900.4:c.619G>A, NM_018900.3:c.619G>A, NM_018900.2:c.619G>A, NM_031411.3:c.619G>A, NM_031411.2:c.619G>A, NM_031411.1:c.619G>A, NM_031410.2:c.619G>A, NM_031410.1:c.619G>A, NP_061723.1:p.Glu207Lys, NP_113599.1:p.Glu207Lys, NP_113598.1:p.Glu207Lys

Select item 146170821017.

rs1461708210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140787798 (GRCh38)
5:140167383 (GRCh37)
Canonical SPDI:: NC_000005.10:140787797:C:T
Gene:: PCDHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.140787798C>T, NC_000005.9:g.140167383C>T, NG_000016.2:g.53671C>T, NW_025791778.1:g.22974C>T, NW_004775428.1:g.22974C>T, NM_018900.4:c.1508C>T, NM_018900.3:c.1508C>T, NM_018900.2:c.1508C>T, NM_031411.3:c.1508C>T, NM_031411.2:c.1508C>T, NM_031411.1:c.1508C>T, NM_031410.2:c.1508C>T, NM_031410.1:c.1508C>T, NP_061723.1:p.Ala503Val, NP_113599.1:p.Ala503Val, NP_113598.1:p.Ala503Val

Select item 145983760318.

rs1459837603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:140786431 (GRCh38)
5:140166016 (GRCh37)
Canonical SPDI:: NC_000005.10:140786430:C:G
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140786431C>G, NC_000005.9:g.140166016C>G, NG_000016.2:g.52304C>G, NW_025791778.1:g.21607C>G, NW_004775428.1:g.21607C>G, NM_018900.4:c.141C>G, NM_018900.3:c.141C>G, NM_018900.2:c.141C>G, NM_031411.3:c.141C>G, NM_031411.2:c.141C>G, NM_031411.1:c.141C>G, NM_031410.2:c.141C>G, NM_031410.1:c.141C>G

Select item 145896170519.

rs1458961705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:140787037 (GRCh38)
5:140166622 (GRCh37)
Canonical SPDI:: NC_000005.10:140787036:C:G
Gene:: PCDHA1 (Varview)
Functional Consequence:: synonymous_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_000005.10:g.140787037C>G, NC_000005.9:g.140166622C>G, NG_000016.2:g.52910C>G, NW_025791778.1:g.22213C>G, NW_004775428.1:g.22213C>G, NM_018900.4:c.747C>G, NM_018900.3:c.747C>G, NM_018900.2:c.747C>G, NM_031411.3:c.747C>G, NM_031411.2:c.747C>G, NM_031411.1:c.747C>G, NM_031410.2:c.747C>G, NM_031410.1:c.747C>G

Select item 145417695320.

rs1454176953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:140787203 (GRCh38)
5:140166788 (GRCh37)
Canonical SPDI:: NC_000005.10:140787202:A:G
Gene:: PCDHA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140787203A>G, NC_000005.9:g.140166788A>G, NG_000016.2:g.53076A>G, NW_025791778.1:g.22379A>G, NW_004775428.1:g.22379A>G, NM_018900.4:c.913A>G, NM_018900.3:c.913A>G, NM_018900.2:c.913A>G, NM_031411.3:c.913A>G, NM_031411.2:c.913A>G, NM_031411.1:c.913A>G, NM_031410.2:c.913A>G, NM_031410.1:c.913A>G, NP_061723.1:p.Ile305Val, NP_113599.1:p.Ile305Val, NP_113598.1:p.Ile305Val

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