SNP Links for Protein (Select 19526471) - SNP

Select item 14899925911.

rs1489992591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74427438 (GRCh38)
2:74654565 (GRCh37)
Canonical SPDI:: NC_000002.12:74427437:A:G
Gene:: RTKN (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.74427438A>G, NC_000002.11:g.74654565A>G, XM_005264479.5:c.1241T>C, XM_005264479.4:c.1241T>C, XM_005264479.3:c.1241T>C, XM_005264479.2:c.1241T>C, XM_005264479.1:c.1241T>C, XM_005264478.4:c.1241T>C, XM_017004635.3:c.1202T>C, XM_017004635.2:c.1202T>C, XM_017004635.1:c.1202T>C, NM_033046.2:c.1202T>C, NM_001015055.2:c.1241T>C, NM_001015055.1:c.1241T>C, XM_047445391.1:c.1202T>C, NM_001410843.1:c.1241T>C, NM_001015056.1:c.1091T>C, XP_005264536.1:p.Leu414Pro, XP_005264535.1:p.Leu414Pro, XP_016860124.1:p.Leu401Pro, NP_149035.1:p.Leu401Pro, NP_001015055.1:p.Leu414Pro, XP_047301347.1:p.Leu401Pro, NP_001015056.1:p.Leu364Pro

Select item 14845716912.

rs1484571691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74426393 (GRCh38)
2:74653520 (GRCh37)
Canonical SPDI:: NC_000002.12:74426392:C:T
Gene:: RTKN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74426393C>T, NC_000002.11:g.74653520C>T, XM_005264479.5:c.*564G>A, XM_005264478.4:c.*254G>A, XM_017004635.3:c.1503G>A, XM_017004635.2:c.1503G>A, XM_017004635.1:c.1503G>A, NM_033046.2:c.1503G>A, NM_001015055.2:c.1542G>A, NM_001015055.1:c.1542G>A, XM_047445391.1:c.*254G>A, NM_001410843.1:c.*254G>A, NM_001015056.1:c.1392G>A

Select item 14841041193.

rs1484104119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74426480 (GRCh38)
2:74653607 (GRCh37)
Canonical SPDI:: NC_000002.12:74426479:C:T
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74426480C>T, NC_000002.11:g.74653607C>T, XM_005264479.5:c.*477G>A, XM_005264479.4:c.*477G>A, XM_005264478.4:c.*167G>A, XM_017004635.3:c.1416G>A, XM_017004635.2:c.1416G>A, XM_017004635.1:c.1416G>A, NM_033046.2:c.1416G>A, NM_001015055.2:c.1455G>A, NM_001015055.1:c.1455G>A, XM_047445391.1:c.*167G>A, NM_001410843.1:c.*167G>A, NM_001015056.1:c.1305G>A, XP_016860124.1:p.Met472Ile, NP_149035.1:p.Met472Ile, NP_001015055.1:p.Met485Ile, NP_001015056.1:p.Met435Ile

Select item 14822966974.

rs1482296697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:74428633 (GRCh38)
2:74655760 (GRCh37)
Canonical SPDI:: NC_000002.12:74428632:G:C
Gene:: RTKN (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74428633G>C, NC_000002.11:g.74655760G>C, XM_005264479.5:c.955C>G, XM_005264479.4:c.955C>G, XM_005264479.3:c.955C>G, XM_005264479.2:c.955C>G, XM_005264479.1:c.955C>G, XM_005264478.4:c.955C>G, XM_017004635.3:c.916C>G, XM_017004635.2:c.916C>G, XM_017004635.1:c.916C>G, XR_939705.3:n.1076C>G, XR_939705.2:n.1037C>G, XR_939705.1:n.1037C>G, NM_033046.2:c.916C>G, NM_001015055.2:c.955C>G, NM_001015055.1:c.955C>G, XM_047445391.1:c.916C>G, NM_001410843.1:c.955C>G, NM_001015056.1:c.805C>G, XP_005264536.1:p.Gln319Glu, XP_005264535.1:p.Gln319Glu, XP_016860124.1:p.Gln306Glu, NP_149035.1:p.Gln306Glu, NP_001015055.1:p.Gln319Glu, XP_047301347.1:p.Gln306Glu, NP_001015056.1:p.Gln269Glu

Select item 14796712125.

rs1479671212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74427546 (GRCh38)
2:74654673 (GRCh37)
Canonical SPDI:: NC_000002.12:74427545:G:A,NC_000002.12:74427545:G:T
Gene:: RTKN (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.74427546G>A, NC_000002.12:g.74427546G>T, NC_000002.11:g.74654673G>A, NC_000002.11:g.74654673G>T, XM_005264479.5:c.1133C>T, XM_005264479.5:c.1133C>A, XM_005264479.4:c.1133C>T, XM_005264479.4:c.1133C>A, XM_005264479.3:c.1133C>T, XM_005264479.3:c.1133C>A, XM_005264479.2:c.1133C>T, XM_005264479.2:c.1133C>A, XM_005264479.1:c.1133C>T, XM_005264479.1:c.1133C>A, XM_005264478.4:c.1133C>T, XM_005264478.4:c.1133C>A, XM_017004635.3:c.1094C>T, XM_017004635.3:c.1094C>A, XM_017004635.2:c.1094C>T, XM_017004635.2:c.1094C>A, XM_017004635.1:c.1094C>T, XM_017004635.1:c.1094C>A, NM_033046.2:c.1094C>T, NM_033046.2:c.1094C>A, NM_001015055.2:c.1133C>T, NM_001015055.2:c.1133C>A, NM_001015055.1:c.1133C>T, NM_001015055.1:c.1133C>A, XM_047445391.1:c.1094C>T, XM_047445391.1:c.1094C>A, NM_001410843.1:c.1133C>T, NM_001410843.1:c.1133C>A, NM_001015056.1:c.983C>T, NM_001015056.1:c.983C>A, XP_005264536.1:p.Pro378Leu, XP_005264536.1:p.Pro378His, XP_005264535.1:p.Pro378Leu, XP_005264535.1:p.Pro378His, XP_016860124.1:p.Pro365Leu, XP_016860124.1:p.Pro365His, NP_149035.1:p.Pro365Leu, NP_149035.1:p.Pro365His, NP_001015055.1:p.Pro378Leu, NP_001015055.1:p.Pro378His, XP_047301347.1:p.Pro365Leu, XP_047301347.1:p.Pro365His, NP_001015056.1:p.Pro328Leu, NP_001015056.1:p.Pro328His

Select item 14773076126.

rs1477307612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:74426403 (GRCh38)
2:74653530 (GRCh37)
Canonical SPDI:: NC_000002.12:74426402:A:G,NC_000002.12:74426402:A:T
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.74426403A>G, NC_000002.12:g.74426403A>T, NC_000002.11:g.74653530A>G, NC_000002.11:g.74653530A>T, XM_005264479.5:c.*554T>C, XM_005264479.5:c.*554T>A, XM_005264478.4:c.*244T>C, XM_005264478.4:c.*244T>A, XM_017004635.3:c.1493T>C, XM_017004635.3:c.1493T>A, XM_017004635.2:c.1493T>C, XM_017004635.2:c.1493T>A, XM_017004635.1:c.1493T>C, XM_017004635.1:c.1493T>A, NM_033046.2:c.1493T>C, NM_033046.2:c.1493T>A, NM_001015055.2:c.1532T>C, NM_001015055.2:c.1532T>A, NM_001015055.1:c.1532T>C, NM_001015055.1:c.1532T>A, XM_047445391.1:c.*244T>C, XM_047445391.1:c.*244T>A, NM_001410843.1:c.*244T>C, NM_001410843.1:c.*244T>A, NM_001015056.1:c.1382T>C, NM_001015056.1:c.1382T>A, XP_016860124.1:p.Leu498Pro, XP_016860124.1:p.Leu498Gln, NP_149035.1:p.Leu498Pro, NP_149035.1:p.Leu498Gln, NP_001015055.1:p.Leu511Pro, NP_001015055.1:p.Leu511Gln, NP_001015056.1:p.Leu461Pro, NP_001015056.1:p.Leu461Gln

Select item 14763217357.

rs1476321735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74428288 (GRCh38)
2:74655415 (GRCh37)
Canonical SPDI:: NC_000002.12:74428287:G:A
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000002.12:g.74428288G>A, NC_000002.11:g.74655415G>A, XM_005264479.5:c.1066C>T, XM_005264479.4:c.1066C>T, XM_005264479.3:c.1066C>T, XM_005264479.2:c.1066C>T, XM_005264479.1:c.1066C>T, XM_005264478.4:c.1066C>T, XM_017004635.3:c.1027C>T, XM_017004635.2:c.1027C>T, XM_017004635.1:c.1027C>T, XR_939705.3:n.1187C>T, XR_939705.2:n.1148C>T, XR_939705.1:n.1148C>T, NM_033046.2:c.1027C>T, NM_001015055.2:c.1066C>T, NM_001015055.1:c.1066C>T, XM_047445391.1:c.1027C>T, NM_001410843.1:c.1066C>T, NM_001015056.1:c.916C>T, XP_005264536.1:p.Leu356Phe, XP_005264535.1:p.Leu356Phe, XP_016860124.1:p.Leu343Phe, NP_149035.1:p.Leu343Phe, NP_001015055.1:p.Leu356Phe, XP_047301347.1:p.Leu343Phe, NP_001015056.1:p.Leu306Phe

Select item 14742809638.

rs1474280963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74432629 (GRCh38)
2:74659756 (GRCh37)
Canonical SPDI:: NC_000002.12:74432628:C:T
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.74432629C>T, NC_000002.11:g.74659756C>T, XM_005264479.5:c.149G>A, XM_005264479.4:c.149G>A, XM_005264479.3:c.149G>A, XM_005264479.2:c.149G>A, XM_005264479.1:c.149G>A, XM_005264478.4:c.149G>A, XM_017004635.3:c.110G>A, XM_017004635.2:c.110G>A, XM_017004635.1:c.110G>A, XR_939705.3:n.270G>A, XR_939705.2:n.231G>A, XR_939705.1:n.231G>A, NM_033046.2:c.110G>A, NM_001015055.2:c.149G>A, NM_001015055.1:c.149G>A, XM_047445391.1:c.110G>A, NM_001410843.1:c.149G>A, NM_001015056.1:c.-2G>A, XP_005264536.1:p.Arg50Gln, XP_005264535.1:p.Arg50Gln, XP_016860124.1:p.Arg37Gln, NP_149035.1:p.Arg37Gln, NP_001015055.1:p.Arg50Gln, XP_047301347.1:p.Arg37Gln

Select item 14742511039.

rs1474251103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74432490 (GRCh38)
2:74659617 (GRCh37)
Canonical SPDI:: NC_000002.12:74432489:C:T
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.74432490C>T, NC_000002.11:g.74659617C>T, XM_005264479.5:c.288G>A, XM_005264479.4:c.288G>A, XM_005264479.3:c.288G>A, XM_005264479.2:c.288G>A, XM_005264479.1:c.288G>A, XM_005264478.4:c.288G>A, XM_017004635.3:c.249G>A, XM_017004635.2:c.249G>A, XM_017004635.1:c.249G>A, XR_939705.3:n.409G>A, XR_939705.2:n.370G>A, XR_939705.1:n.370G>A, NM_033046.2:c.249G>A, NM_001015055.2:c.288G>A, NM_001015055.1:c.288G>A, XM_047445391.1:c.249G>A, NM_001410843.1:c.288G>A, NM_001015056.1:c.138G>A

Select item 147116803310.

rs1471168033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:74429908 (GRCh38)
2:74657035 (GRCh37)
Canonical SPDI:: NC_000002.12:74429907:T:A
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.74429908T>A, NC_000002.11:g.74657035T>A, XM_005264479.5:c.675A>T, XM_005264479.4:c.675A>T, XM_005264479.3:c.675A>T, XM_005264479.2:c.675A>T, XM_005264479.1:c.675A>T, XM_005264478.4:c.675A>T, XM_017004635.3:c.636A>T, XM_017004635.2:c.636A>T, XM_017004635.1:c.636A>T, XR_939705.3:n.796A>T, XR_939705.2:n.757A>T, XR_939705.1:n.757A>T, NM_033046.2:c.636A>T, NM_001015055.2:c.675A>T, NM_001015055.1:c.675A>T, XM_047445391.1:c.636A>T, NM_001410843.1:c.675A>T, NM_001015056.1:c.525A>T

Select item 147059821311.

rs1470598213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74432661 (GRCh38)
2:74659788 (GRCh37)
Canonical SPDI:: NC_000002.12:74432660:C:T
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_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_000002.12:g.74432661C>T, NC_000002.11:g.74659788C>T, XM_005264479.5:c.117G>A, XM_005264479.4:c.117G>A, XM_005264479.3:c.117G>A, XM_005264479.2:c.117G>A, XM_005264479.1:c.117G>A, XM_005264478.4:c.117G>A, XM_017004635.3:c.78G>A, XM_017004635.2:c.78G>A, XM_017004635.1:c.78G>A, XR_939705.3:n.238G>A, XR_939705.2:n.199G>A, XR_939705.1:n.199G>A, NM_033046.2:c.78G>A, NM_001015055.2:c.117G>A, NM_001015055.1:c.117G>A, XM_047445391.1:c.78G>A, NM_001410843.1:c.117G>A, NM_001015056.1:c.-34G>A

Select item 146972669512.

rs1469726695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74426307 (GRCh38)
2:74653434 (GRCh37)
Canonical SPDI:: NC_000002.12:74426306:G:A,NC_000002.12:74426306:G:T
Gene:: RTKN (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.74426307G>A, NC_000002.12:g.74426307G>T, NC_000002.11:g.74653434G>A, NC_000002.11:g.74653434G>T, XM_005264479.5:c.*650C>T, XM_005264479.5:c.*650C>A, XM_005264478.4:c.*340C>T, XM_005264478.4:c.*340C>A, XM_017004635.3:c.1589C>T, XM_017004635.3:c.1589C>A, XM_017004635.2:c.1589C>T, XM_017004635.2:c.1589C>A, XM_017004635.1:c.1589C>T, XM_017004635.1:c.1589C>A, NM_033046.2:c.1589C>T, NM_033046.2:c.1589C>A, NM_001015055.2:c.1628C>T, NM_001015055.2:c.1628C>A, NM_001015055.1:c.1628C>T, NM_001015055.1:c.1628C>A, XM_047445391.1:c.*340C>T, XM_047445391.1:c.*340C>A, NM_001410843.1:c.*340C>T, NM_001410843.1:c.*340C>A, NM_001015056.1:c.1478C>T, NM_001015056.1:c.1478C>A, XP_016860124.1:p.Ser530Phe, XP_016860124.1:p.Ser530Tyr, NP_149035.1:p.Ser530Phe, NP_149035.1:p.Ser530Tyr, NP_001015055.1:p.Ser543Phe, NP_001015055.1:p.Ser543Tyr, NP_001015056.1:p.Ser493Phe, NP_001015056.1:p.Ser493Tyr

Select item 146757954013.

rs1467579540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74426453 (GRCh38)
2:74653580 (GRCh37)
Canonical SPDI:: NC_000002.12:74426452:G:A
Gene:: RTKN (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.74426453G>A, NC_000002.11:g.74653580G>A, XM_005264479.5:c.*504C>T, XM_005264479.4:c.*504C>T, XM_005264478.4:c.*194C>T, XM_017004635.3:c.1443C>T, XM_017004635.2:c.1443C>T, XM_017004635.1:c.1443C>T, NM_033046.2:c.1443C>T, NM_001015055.2:c.1482C>T, NM_001015055.1:c.1482C>T, XM_047445391.1:c.*194C>T, NM_001410843.1:c.*194C>T, NM_001015056.1:c.1332C>T

Select item 146727313214.

rs1467273132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:74426257 (GRCh38)
2:74653384 (GRCh37)
Canonical SPDI:: NC_000002.12:74426256:G:T
Gene:: RTKN (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74426257G>T, NC_000002.11:g.74653384G>T, XM_005264479.5:c.*700C>A, XM_005264478.4:c.*390C>A, XM_017004635.3:c.1639C>A, XM_017004635.2:c.1639C>A, XM_017004635.1:c.1639C>A, NM_033046.2:c.1639C>A, NM_001015055.2:c.1678C>A, NM_001015055.1:c.1678C>A, XM_047445391.1:c.*390C>A, NM_001410843.1:c.*390C>A, NM_001015056.1:c.1528C>A, XP_016860124.1:p.Gln547Lys, NP_149035.1:p.Gln547Lys, NP_001015055.1:p.Gln560Lys, NP_001015056.1:p.Gln510Lys

Select item 146302764415.

rs1463027644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74432540 (GRCh38)
2:74659667 (GRCh37)
Canonical SPDI:: NC_000002.12:74432539:T:C
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74432540T>C, NC_000002.11:g.74659667T>C, XM_005264479.5:c.238A>G, XM_005264479.4:c.238A>G, XM_005264479.3:c.238A>G, XM_005264479.2:c.238A>G, XM_005264479.1:c.238A>G, XM_005264478.4:c.238A>G, XM_017004635.3:c.199A>G, XM_017004635.2:c.199A>G, XM_017004635.1:c.199A>G, XR_939705.3:n.359A>G, XR_939705.2:n.320A>G, XR_939705.1:n.320A>G, NM_033046.2:c.199A>G, NM_001015055.2:c.238A>G, NM_001015055.1:c.238A>G, XM_047445391.1:c.199A>G, NM_001410843.1:c.238A>G, NM_001015056.1:c.88A>G, XP_005264536.1:p.Ser80Gly, XP_005264535.1:p.Ser80Gly, XP_016860124.1:p.Ser67Gly, NP_149035.1:p.Ser67Gly, NP_001015055.1:p.Ser80Gly, XP_047301347.1:p.Ser67Gly, NP_001015056.1:p.Ser30Gly

Select item 146241616016.

rs1462416160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:74428857 (GRCh38)
2:74655984 (GRCh37)
Canonical SPDI:: NC_000002.12:74428856:C:G
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74428857C>G, NC_000002.11:g.74655984C>G, XM_005264479.5:c.841G>C, XM_005264479.4:c.841G>C, XM_005264479.3:c.841G>C, XM_005264479.2:c.841G>C, XM_005264479.1:c.841G>C, XM_005264478.4:c.841G>C, XM_017004635.3:c.802G>C, XM_017004635.2:c.802G>C, XM_017004635.1:c.802G>C, XR_939705.3:n.962G>C, XR_939705.2:n.923G>C, XR_939705.1:n.923G>C, NM_033046.2:c.802G>C, NM_001015055.2:c.841G>C, NM_001015055.1:c.841G>C, XM_047445391.1:c.802G>C, NM_001410843.1:c.841G>C, NM_001015056.1:c.691G>C, XP_005264536.1:p.Ala281Pro, XP_005264535.1:p.Ala281Pro, XP_016860124.1:p.Ala268Pro, NP_149035.1:p.Ala268Pro, NP_001015055.1:p.Ala281Pro, XP_047301347.1:p.Ala268Pro, NP_001015056.1:p.Ala231Pro

Select item 146199949217.

rs1461999492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74426407 (GRCh38)
2:74653534 (GRCh37)
Canonical SPDI:: NC_000002.12:74426406:G:A
Gene:: RTKN (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000002.12:g.74426407G>A, NC_000002.11:g.74653534G>A, XM_005264479.5:c.*550C>T, XM_005264478.4:c.*240C>T, XM_017004635.3:c.1489C>T, XM_017004635.2:c.1489C>T, XM_017004635.1:c.1489C>T, NM_033046.2:c.1489C>T, NM_001015055.2:c.1528C>T, NM_001015055.1:c.1528C>T, XM_047445391.1:c.*240C>T, NM_001410843.1:c.*240C>T, NM_001015056.1:c.1378C>T, XP_016860124.1:p.Pro497Ser, NP_149035.1:p.Pro497Ser, NP_001015055.1:p.Pro510Ser, NP_001015056.1:p.Pro460Ser

Select item 145636012718.

rs1456360127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:74429841 (GRCh38)
2:74656968 (GRCh37)
Canonical SPDI:: NC_000002.12:74429840:T:C,NC_000002.12:74429840:T:G
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
G=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.74429841T>C, NC_000002.12:g.74429841T>G, NC_000002.11:g.74656968T>C, NC_000002.11:g.74656968T>G, XM_005264479.5:c.742A>G, XM_005264479.5:c.742A>C, XM_005264479.4:c.742A>G, XM_005264479.4:c.742A>C, XM_005264479.3:c.742A>G, XM_005264479.3:c.742A>C, XM_005264479.2:c.742A>G, XM_005264479.2:c.742A>C, XM_005264479.1:c.742A>G, XM_005264479.1:c.742A>C, XM_005264478.4:c.742A>G, XM_005264478.4:c.742A>C, XM_017004635.3:c.703A>G, XM_017004635.3:c.703A>C, XM_017004635.2:c.703A>G, XM_017004635.2:c.703A>C, XM_017004635.1:c.703A>G, XM_017004635.1:c.703A>C, XR_939705.3:n.863A>G, XR_939705.3:n.863A>C, XR_939705.2:n.824A>G, XR_939705.2:n.824A>C, XR_939705.1:n.824A>G, XR_939705.1:n.824A>C, NM_033046.2:c.703A>G, NM_033046.2:c.703A>C, NM_001015055.2:c.742A>G, NM_001015055.2:c.742A>C, NM_001015055.1:c.742A>G, NM_001015055.1:c.742A>C, XM_047445391.1:c.703A>G, XM_047445391.1:c.703A>C, NM_001410843.1:c.742A>G, NM_001410843.1:c.742A>C, NM_001015056.1:c.592A>G, NM_001015056.1:c.592A>C, XP_005264536.1:p.Thr248Ala, XP_005264536.1:p.Thr248Pro, XP_005264535.1:p.Thr248Ala, XP_005264535.1:p.Thr248Pro, XP_016860124.1:p.Thr235Ala, XP_016860124.1:p.Thr235Pro, NP_149035.1:p.Thr235Ala, NP_149035.1:p.Thr235Pro, NP_001015055.1:p.Thr248Ala, NP_001015055.1:p.Thr248Pro, XP_047301347.1:p.Thr235Ala, XP_047301347.1:p.Thr235Pro, NP_001015056.1:p.Thr198Ala, NP_001015056.1:p.Thr198Pro

Select item 145474052219.

rs1454740522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74428919 (GRCh38)
2:74656046 (GRCh37)
Canonical SPDI:: NC_000002.12:74428918:G:A
Gene:: RTKN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.74428919G>A, NC_000002.11:g.74656046G>A, XM_005264479.5:c.779C>T, XM_005264479.4:c.779C>T, XM_005264479.3:c.779C>T, XM_005264479.2:c.779C>T, XM_005264479.1:c.779C>T, XM_005264478.4:c.779C>T, XM_017004635.3:c.740C>T, XM_017004635.2:c.740C>T, XM_017004635.1:c.740C>T, XR_939705.3:n.900C>T, XR_939705.2:n.861C>T, XR_939705.1:n.861C>T, NM_033046.2:c.740C>T, NM_001015055.2:c.779C>T, NM_001015055.1:c.779C>T, XM_047445391.1:c.740C>T, NM_001410843.1:c.779C>T, NM_001015056.1:c.629C>T, XP_005264536.1:p.Ala260Val, XP_005264535.1:p.Ala260Val, XP_016860124.1:p.Ala247Val, NP_149035.1:p.Ala247Val, NP_001015055.1:p.Ala260Val, XP_047301347.1:p.Ala247Val, NP_001015056.1:p.Ala210Val

Select item 145425057220.

rs1454250572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:74426506 (GRCh38)
2:74653633 (GRCh37)
Canonical SPDI:: NC_000002.12:74426505:C:G,NC_000002.12:74426505:C:T
Gene:: RTKN (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.74426506C>G, NC_000002.12:g.74426506C>T, NC_000002.11:g.74653633C>G, NC_000002.11:g.74653633C>T, XM_005264479.5:c.*451G>C, XM_005264479.5:c.*451G>A, XM_005264479.4:c.*451G>C, XM_005264479.4:c.*451G>A, XM_005264478.4:c.*141G>C, XM_005264478.4:c.*141G>A, XM_017004635.3:c.1390G>C, XM_017004635.3:c.1390G>A, XM_017004635.2:c.1390G>C, XM_017004635.2:c.1390G>A, XM_017004635.1:c.1390G>C, XM_017004635.1:c.1390G>A, NM_033046.2:c.1390G>C, NM_033046.2:c.1390G>A, NM_001015055.2:c.1429G>C, NM_001015055.2:c.1429G>A, NM_001015055.1:c.1429G>C, NM_001015055.1:c.1429G>A, XM_047445391.1:c.*141G>C, XM_047445391.1:c.*141G>A, NM_001410843.1:c.*141G>C, NM_001410843.1:c.*141G>A, NM_001015056.1:c.1279G>C, NM_001015056.1:c.1279G>A, XP_016860124.1:p.Glu464Gln, XP_016860124.1:p.Glu464Lys, NP_149035.1:p.Glu464Gln, NP_149035.1:p.Glu464Lys, NP_001015055.1:p.Glu477Gln, NP_001015055.1:p.Glu477Lys, NP_001015056.1:p.Glu427Gln, NP_001015056.1:p.Glu427Lys

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Result Filters

Clinical Significance

Validation Status

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 555

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