SNP Links for Protein (Select 298676510) - SNP

Links from Protein

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Select item 14845144551.

rs1484514455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:219643 (GRCh38)
17:69434 (GRCh37)
Canonical SPDI:: NC_000017.11:219642:T:A
Gene:: RPH3AL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.219643T>A, NC_000017.10:g.69434T>A, NG_023031.1:g.138200A>T, NM_006987.4:c.707A>T, NM_006987.3:c.707A>T, NM_001190412.2:c.620A>T, NM_001190412.1:c.620A>T, NM_001190411.2:c.707A>T, NM_001190411.1:c.707A>T, NM_001190413.2:c.620A>T, NM_001190413.1:c.620A>T, NW_003315952.3:g.167013T>A, NW_004070872.2:g.159641T>A, NP_008918.1:p.Asp236Val, NP_001177341.1:p.Asp207Val, NP_001177340.1:p.Asp236Val, NP_001177342.1:p.Asp207Val

Select item 14818421372.

rs1481842137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:247130 (GRCh38)
17:96921 (GRCh37)
Canonical SPDI:: NC_000017.11:247129:G:A
Gene:: RPH3AL (Varview)
Functional Consequence:: 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_000017.11:g.247130G>A, NC_000017.10:g.96921G>A, NG_023031.1:g.110713C>T, NM_006987.4:c.594C>T, NM_006987.3:c.594C>T, NM_001190412.2:c.507C>T, NM_001190412.1:c.507C>T, NM_001190411.2:c.594C>T, NM_001190411.1:c.594C>T, NM_001190413.2:c.507C>T, NM_001190413.1:c.507C>T, NW_003315952.3:g.198751G>A, NW_003315952.2:g.96921G>A, NW_004070872.2:g.187128G>A

Select item 14792266423.

rs1479226642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:219697 (GRCh38)
17:69488 (GRCh37)
Canonical SPDI:: NC_000017.11:219696:G:T
Gene:: RPH3AL (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.219697G>T, NC_000017.10:g.69488G>T, NG_023031.1:g.138146C>A, NM_006987.4:c.653C>A, NM_006987.3:c.653C>A, NM_001190412.2:c.566C>A, NM_001190412.1:c.566C>A, NM_001190411.2:c.653C>A, NM_001190411.1:c.653C>A, NM_001190413.2:c.566C>A, NM_001190413.1:c.566C>A, NW_003315952.3:g.167067G>T, NW_004070872.2:g.159695G>T, NP_008918.1:p.Ser218Tyr, NP_001177341.1:p.Ser189Tyr, NP_001177340.1:p.Ser218Tyr, NP_001177342.1:p.Ser189Tyr

Select item 14778122724.

rs1477812272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:213902 (GRCh38)
17:63693 (GRCh37)
Canonical SPDI:: NC_000017.11:213901:C:G
Gene:: RPH3AL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.213902C>G, NC_000017.10:g.63693C>G, NG_023031.1:g.143941G>C, NM_006987.4:c.898G>C, NM_006987.3:c.898G>C, NM_001190412.2:c.811G>C, NM_001190412.1:c.811G>C, NM_001190411.2:c.898G>C, NM_001190411.1:c.898G>C, NM_001190413.2:c.811G>C, NM_001190413.1:c.811G>C, NW_003315952.3:g.158943C>G, NW_004070872.2:g.153900C>G, NP_008918.1:p.Ala300Pro, NP_001177341.1:p.Ala271Pro, NP_001177340.1:p.Ala300Pro, NP_001177342.1:p.Ala271Pro

Select item 14768661665.

rs1476866166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:319436 (GRCh38)
17:169227 (GRCh37)
Canonical SPDI:: NC_000017.11:319435:C:T
Gene:: RPH3AL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.319436C>T, NC_000017.10:g.169227C>T, NG_023031.1:g.38407G>A, NM_006987.4:c.335G>A, NM_006987.3:c.335G>A, NM_001190412.2:c.335G>A, NM_001190412.1:c.335G>A, NM_001190411.2:c.335G>A, NM_001190411.1:c.335G>A, NM_001190413.2:c.335G>A, NM_001190413.1:c.335G>A, NW_003315952.3:g.290752C>T, NW_004070872.2:g.259434C>T, NT_187662.1:g.83002G>A, NP_008918.1:p.Cys112Tyr, NP_001177341.1:p.Cys112Tyr, NP_001177340.1:p.Cys112Tyr, NP_001177342.1:p.Cys112Tyr

Select item 14696129466.

rs1469612946 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:281820 (GRCh38)
17:131611 (GRCh37)
Canonical SPDI:: NC_000017.11:281819:GGGG:GGG
Gene:: RPH3AL (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.281823del, NC_000017.10:g.131614del, NG_023031.1:g.76023del, NM_006987.4:c.*1-5625del, NM_006987.3:c.386del, NM_001190411.2:c.*1-5625del, NM_001190411.1:c.386del, NW_003315952.3:g.251277del, NW_003315952.2:g.149447del, NW_004070872.2:g.221821del, NT_187662.1:g.122873del, NP_008918.1:p.Pro129fs, NP_001177340.1:p.Pro129fs

Select item 14691857607.

rs1469185760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:219646 (GRCh38)
17:69437 (GRCh37)
Canonical SPDI:: NC_000017.11:219645:C:T
Gene:: RPH3AL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.219646C>T, NC_000017.10:g.69437C>T, NG_023031.1:g.138197G>A, NM_006987.4:c.704G>A, NM_006987.3:c.704G>A, NM_001190412.2:c.617G>A, NM_001190412.1:c.617G>A, NM_001190411.2:c.704G>A, NM_001190411.1:c.704G>A, NM_001190413.2:c.617G>A, NM_001190413.1:c.617G>A, NW_003315952.3:g.167016C>T, NW_004070872.2:g.159644C>T, NP_008918.1:p.Gly235Asp, NP_001177341.1:p.Gly206Asp, NP_001177340.1:p.Gly235Asp, NP_001177342.1:p.Gly206Asp

Select item 14645009328.

rs1464500932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:247237 (GRCh38)
17:97028 (GRCh37)
Canonical SPDI:: NC_000017.11:247236:T:C
Gene:: RPH3AL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.247237T>C, NC_000017.10:g.97028T>C, NG_023031.1:g.110606A>G, NM_006987.4:c.487A>G, NM_006987.3:c.487A>G, NM_001190412.2:c.400A>G, NM_001190412.1:c.400A>G, NM_001190411.2:c.487A>G, NM_001190411.1:c.487A>G, NM_001190413.2:c.400A>G, NM_001190413.1:c.400A>G, NW_003315952.3:g.198858T>C, NW_003315952.2:g.97028T>C, NW_004070872.2:g.187235T>C, NP_008918.1:p.Ile163Val, NP_001177341.1:p.Ile134Val, NP_001177340.1:p.Ile163Val, NP_001177342.1:p.Ile134Val

Select item 14609414779.

rs1460941477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:213910 (GRCh38)
17:63701 (GRCh37)
Canonical SPDI:: NC_000017.11:213909:G:A,NC_000017.11:213909:G:T
Gene:: RPH3AL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.213910G>A, NC_000017.11:g.213910G>T, NC_000017.10:g.63701G>A, NC_000017.10:g.63701G>T, NG_023031.1:g.143933C>T, NG_023031.1:g.143933C>A, NM_006987.4:c.890C>T, NM_006987.4:c.890C>A, NM_006987.3:c.890C>T, NM_006987.3:c.890C>A, NM_001190412.2:c.803C>T, NM_001190412.2:c.803C>A, NM_001190412.1:c.803C>T, NM_001190412.1:c.803C>A, NM_001190411.2:c.890C>T, NM_001190411.2:c.890C>A, NM_001190411.1:c.890C>T, NM_001190411.1:c.890C>A, NM_001190413.2:c.803C>T, NM_001190413.2:c.803C>A, NM_001190413.1:c.803C>T, NM_001190413.1:c.803C>A, NW_003315952.3:g.158951G>A, NW_003315952.3:g.158951G>T, NW_004070872.2:g.153908G>A, NW_004070872.2:g.153908G>T, NP_008918.1:p.Pro297Leu, NP_008918.1:p.Pro297His, NP_001177341.1:p.Pro268Leu, NP_001177341.1:p.Pro268His, NP_001177340.1:p.Pro297Leu, NP_001177340.1:p.Pro297His, NP_001177342.1:p.Pro268Leu, NP_001177342.1:p.Pro268His

Select item 145586953410.

rs1455869534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:247274 (GRCh38)
17:97065 (GRCh37)
Canonical SPDI:: NC_000017.11:247273:C:T
Gene:: RPH3AL (Varview)
Functional Consequence:: 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_000017.11:g.247274C>T, NC_000017.10:g.97065C>T, NG_023031.1:g.110569G>A, NM_006987.4:c.450G>A, NM_006987.3:c.450G>A, NM_001190412.2:c.363G>A, NM_001190412.1:c.363G>A, NM_001190411.2:c.450G>A, NM_001190411.1:c.450G>A, NM_001190413.2:c.363G>A, NM_001190413.1:c.363G>A, NW_003315952.3:g.198895C>T, NW_003315952.2:g.97065C>T, NW_004070872.2:g.187272C>T

Select item 145505768411.

rs1455057684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:321367 (GRCh38)
17:171158 (GRCh37)
Canonical SPDI:: NC_000017.11:321366:C:G
Gene:: RPH3AL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.321367C>G, NC_000017.10:g.171158C>G, NG_023031.1:g.36476G>C, NM_006987.4:c.126G>C, NM_006987.3:c.126G>C, NM_001190412.2:c.126G>C, NM_001190412.1:c.126G>C, NM_001190411.2:c.126G>C, NM_001190411.1:c.126G>C, NM_001190413.2:c.126G>C, NM_001190413.1:c.126G>C, NW_003315952.3:g.292781C>G, NW_004070872.2:g.261365C>G, NT_187662.1:g.81271G>C, NP_008918.1:p.Arg42Ser, NP_001177341.1:p.Arg42Ser, NP_001177340.1:p.Arg42Ser, NP_001177342.1:p.Arg42Ser

Select item 145317008412.

rs1453170084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:215722 (GRCh38)
17:65513 (GRCh37)
Canonical SPDI:: NC_000017.11:215721:C:G,NC_000017.11:215721:C:T
Gene:: RPH3AL (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=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.215722C>G, NC_000017.11:g.215722C>T, NC_000017.10:g.65513C>G, NC_000017.10:g.65513C>T, NG_023031.1:g.142121G>C, NG_023031.1:g.142121G>A, NM_006987.4:c.808G>C, NM_006987.4:c.808G>A, NM_006987.3:c.808G>C, NM_006987.3:c.808G>A, NM_001190412.2:c.721G>C, NM_001190412.2:c.721G>A, NM_001190412.1:c.721G>C, NM_001190412.1:c.721G>A, NM_001190411.2:c.808G>C, NM_001190411.2:c.808G>A, NM_001190411.1:c.808G>C, NM_001190411.1:c.808G>A, NM_001190413.2:c.721G>C, NM_001190413.2:c.721G>A, NM_001190413.1:c.721G>C, NM_001190413.1:c.721G>A, NW_003315952.3:g.160763C>G, NW_003315952.3:g.160763C>T, NW_004070872.2:g.155720C>G, NW_004070872.2:g.155720C>T, NP_008918.1:p.Gly270Arg, NP_008918.1:p.Gly270Ser, NP_001177341.1:p.Gly241Arg, NP_001177341.1:p.Gly241Ser, NP_001177340.1:p.Gly270Arg, NP_001177340.1:p.Gly270Ser, NP_001177342.1:p.Gly241Arg, NP_001177342.1:p.Gly241Ser

Select item 145312671513.

rs1453126715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:319426 (GRCh38)
17:169217 (GRCh37)
Canonical SPDI:: NC_000017.11:319425:G:A
Gene:: RPH3AL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.319426G>A, NC_000017.10:g.169217G>A, NG_023031.1:g.38417C>T, NM_006987.4:c.345C>T, NM_006987.3:c.345C>T, NM_001190412.2:c.345C>T, NM_001190412.1:c.345C>T, NM_001190411.2:c.345C>T, NM_001190411.1:c.345C>T, NM_001190413.2:c.345C>T, NM_001190413.1:c.345C>T, NW_003315952.3:g.290742G>A, NW_004070872.2:g.259424G>A, NT_187662.1:g.83012C>T

Select item 144868854314.

rs1448688543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:321283 (GRCh38)
17:171074 (GRCh37)
Canonical SPDI:: NC_000017.11:321282:C:T
Gene:: RPH3AL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.321283C>T, NC_000017.10:g.171074C>T, NG_023031.1:g.36560G>A, NM_006987.4:c.210G>A, NM_006987.3:c.210G>A, NM_001190412.2:c.210G>A, NM_001190412.1:c.210G>A, NM_001190411.2:c.210G>A, NM_001190411.1:c.210G>A, NM_001190413.2:c.210G>A, NM_001190413.1:c.210G>A, NW_003315952.3:g.292697C>T, NW_004070872.2:g.261281C>T, NT_187662.1:g.81355G>A

Select item 144090477915.

rs1440904779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:219720 (GRCh38)
17:69511 (GRCh37)
Canonical SPDI:: NC_000017.11:219719:A:C,NC_000017.11:219719:A:G
Gene:: RPH3AL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_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_000017.11:g.219720A>C, NC_000017.11:g.219720A>G, NC_000017.10:g.69511A>C, NC_000017.10:g.69511A>G, NG_023031.1:g.138123T>G, NG_023031.1:g.138123T>C, NM_006987.4:c.630T>G, NM_006987.4:c.630T>C, NM_006987.3:c.630T>G, NM_006987.3:c.630T>C, NM_001190412.2:c.543T>G, NM_001190412.2:c.543T>C, NM_001190412.1:c.543T>G, NM_001190412.1:c.543T>C, NM_001190411.2:c.630T>G, NM_001190411.2:c.630T>C, NM_001190411.1:c.630T>G, NM_001190411.1:c.630T>C, NM_001190413.2:c.543T>G, NM_001190413.2:c.543T>C, NM_001190413.1:c.543T>G, NM_001190413.1:c.543T>C, NW_003315952.3:g.167090A>C, NW_003315952.3:g.167090A>G, NW_004070872.2:g.159718A>C, NW_004070872.2:g.159718A>G, NP_008918.1:p.Ser210Arg, NP_001177341.1:p.Ser181Arg, NP_001177340.1:p.Ser210Arg, NP_001177342.1:p.Ser181Arg

Select item 143871151816.

rs1438711518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:215759 (GRCh38)
17:65550 (GRCh37)
Canonical SPDI:: NC_000017.11:215758:C:T
Gene:: RPH3AL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000088/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.215759C>T, NC_000017.10:g.65550C>T, NG_023031.1:g.142084G>A, NM_006987.4:c.771G>A, NM_006987.3:c.771G>A, NM_001190412.2:c.684G>A, NM_001190412.1:c.684G>A, NM_001190411.2:c.771G>A, NM_001190411.1:c.771G>A, NM_001190413.2:c.684G>A, NM_001190413.1:c.684G>A, NW_003315952.3:g.160800C>T, NW_004070872.2:g.155757C>T

Select item 143866580917.

rs1438665809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:319439 (GRCh38)
17:169230 (GRCh37)
Canonical SPDI:: NC_000017.11:319438:A:C
Gene:: RPH3AL (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_000017.11:g.319439A>C, NC_000017.10:g.169230A>C, NG_023031.1:g.38404T>G, NM_006987.4:c.332T>G, NM_006987.3:c.332T>G, NM_001190412.2:c.332T>G, NM_001190412.1:c.332T>G, NM_001190411.2:c.332T>G, NM_001190411.1:c.332T>G, NM_001190413.2:c.332T>G, NM_001190413.1:c.332T>G, NW_003315952.3:g.290755A>C, NW_004070872.2:g.259437A>C, NT_187662.1:g.82999T>G, NP_008918.1:p.Phe111Cys, NP_001177341.1:p.Phe111Cys, NP_001177340.1:p.Phe111Cys, NP_001177342.1:p.Phe111Cys

Select item 143345901118.

rs1433459011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:215710 (GRCh38)
17:65501 (GRCh37)
Canonical SPDI:: NC_000017.11:215709:T:G
Gene:: RPH3AL (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_000017.11:g.215710T>G, NC_000017.10:g.65501T>G, NG_023031.1:g.142133A>C, NM_006987.4:c.820A>C, NM_006987.3:c.820A>C, NM_001190412.2:c.733A>C, NM_001190412.1:c.733A>C, NM_001190411.2:c.820A>C, NM_001190411.1:c.820A>C, NM_001190413.2:c.733A>C, NM_001190413.1:c.733A>C, NW_003315952.3:g.160751T>G, NW_004070872.2:g.155708T>G, NP_008918.1:p.Thr274Pro, NP_001177341.1:p.Thr245Pro, NP_001177340.1:p.Thr274Pro, NP_001177342.1:p.Thr245Pro

Select item 143320298219.

rs1433202982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:215661 (GRCh38)
17:65452 (GRCh37)
Canonical SPDI:: NC_000017.11:215660:C:A,NC_000017.11:215660:C:G
Gene:: RPH3AL (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)
HGVS:: NC_000017.11:g.215661C>A, NC_000017.11:g.215661C>G, NC_000017.10:g.65452C>A, NC_000017.10:g.65452C>G, NG_023031.1:g.142182G>T, NG_023031.1:g.142182G>C, NM_006987.4:c.869G>T, NM_006987.4:c.869G>C, NM_006987.3:c.869G>T, NM_006987.3:c.869G>C, NM_001190412.2:c.782G>T, NM_001190412.2:c.782G>C, NM_001190412.1:c.782G>T, NM_001190412.1:c.782G>C, NM_001190411.2:c.869G>T, NM_001190411.2:c.869G>C, NM_001190411.1:c.869G>T, NM_001190411.1:c.869G>C, NM_001190413.2:c.782G>T, NM_001190413.2:c.782G>C, NM_001190413.1:c.782G>T, NM_001190413.1:c.782G>C, NW_003315952.3:g.160702C>A, NW_003315952.3:g.160702C>G, NW_004070872.2:g.155659C>A, NW_004070872.2:g.155659C>G, NP_008918.1:p.Arg290Met, NP_008918.1:p.Arg290Thr, NP_001177341.1:p.Arg261Met, NP_001177341.1:p.Arg261Thr, NP_001177340.1:p.Arg290Met, NP_001177340.1:p.Arg290Thr, NP_001177342.1:p.Arg261Met, NP_001177342.1:p.Arg261Thr

Select item 142829352320.

rs1428293523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:215738 (GRCh38)
17:65529 (GRCh37)
Canonical SPDI:: NC_000017.11:215737:C:A
Gene:: RPH3AL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.215738C>A, NC_000017.10:g.65529C>A, NG_023031.1:g.142105G>T, NM_006987.4:c.792G>T, NM_006987.3:c.792G>T, NM_001190412.2:c.705G>T, NM_001190412.1:c.705G>T, NM_001190411.2:c.792G>T, NM_001190411.1:c.792G>T, NM_001190413.2:c.705G>T, NM_001190413.1:c.705G>T, NW_003315952.3:g.160779C>A, NW_004070872.2:g.155736C>A, NP_008918.1:p.Gln264His, NP_001177341.1:p.Gln235His, NP_001177340.1:p.Gln264His, NP_001177342.1:p.Gln235His

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