SNP Links for Protein (Select 767942423) - SNP

Links from Protein

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Select item 14861436751.

rs1486143675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:115956501 (GRCh38)
6:116277664 (GRCh37)
Canonical SPDI:: NC_000006.12:115956500:A:T
Gene:: FRK (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000006.12:g.115956501A>T, NC_000006.11:g.116277664A>T, XM_005266880.5:c.909T>A, XM_005266880.4:c.909T>A, XM_005266880.3:c.909T>A, XM_005266880.2:c.909T>A, XM_005266880.1:c.909T>A, NM_002031.3:c.909T>A, NM_002031.2:c.909T>A, XM_011535654.3:c.909T>A, XM_011535654.2:c.909T>A, XM_011535654.1:c.909T>A, XM_011535655.3:c.909T>A, XM_011535655.2:c.909T>A, XM_011535655.1:c.909T>A, XM_005266881.3:c.909T>A, XM_005266881.2:c.909T>A, XM_005266881.1:c.909T>A, XM_011535656.3:c.570T>A, XM_011535656.2:c.570T>A, XM_011535656.1:c.570T>A, XM_017010645.2:c.909T>A, XM_017010645.1:c.909T>A, XM_047418555.1:c.909T>A, XM_047418554.1:c.909T>A, XP_005266937.1:p.Tyr303Ter, NP_002022.1:p.Tyr303Ter, XP_011533956.1:p.Tyr303Ter, XP_011533957.1:p.Tyr303Ter, XP_005266938.1:p.Tyr303Ter, XP_011533958.1:p.Tyr190Ter, XP_016866134.1:p.Tyr303Ter, XP_047274511.1:p.Tyr303Ter, XP_047274510.1:p.Tyr303Ter

Select item 14798384402.

rs1479838440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:115943136 (GRCh38)
6:116264299 (GRCh37)
Canonical SPDI:: NC_000006.12:115943135:A:G
Gene:: FRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.115943136A>G, NC_000006.11:g.116264299A>G, XM_005266880.5:c.1190T>C, XM_005266880.4:c.1190T>C, XM_005266880.3:c.1190T>C, XM_005266880.2:c.1190T>C, XM_005266880.1:c.1190T>C, NM_002031.3:c.1190T>C, NM_002031.2:c.1190T>C, XM_011535654.3:c.1190T>C, XM_011535654.2:c.1190T>C, XM_011535654.1:c.1190T>C, XM_011535655.3:c.1190T>C, XM_011535655.2:c.1190T>C, XM_011535655.1:c.1190T>C, XM_005266881.3:c.1190T>C, XM_005266881.2:c.1190T>C, XM_005266881.1:c.1190T>C, XM_011535656.3:c.851T>C, XM_011535656.2:c.851T>C, XM_011535656.1:c.851T>C, XM_017010645.2:c.1190T>C, XM_017010645.1:c.1190T>C, XM_047418555.1:c.1190T>C, XM_047418554.1:c.1190T>C, XP_005266937.1:p.Val397Ala, NP_002022.1:p.Val397Ala, XP_011533956.1:p.Val397Ala, XP_011533957.1:p.Val397Ala, XP_005266938.1:p.Val397Ala, XP_011533958.1:p.Val284Ala, XP_016866134.1:p.Val397Ala, XP_047274511.1:p.Val397Ala, XP_047274510.1:p.Val397Ala

Select item 14772019283.

rs1477201928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:115968623 (GRCh38)
6:116289786 (GRCh37)
Canonical SPDI:: NC_000006.12:115968622:T:C
Gene:: FRK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.115968623T>C, NC_000006.11:g.116289786T>C, XM_005266880.5:c.583A>G, XM_005266880.4:c.583A>G, XM_005266880.3:c.583A>G, XM_005266880.2:c.583A>G, XM_005266880.1:c.583A>G, NM_002031.3:c.583A>G, NM_002031.2:c.583A>G, XM_011535654.3:c.583A>G, XM_011535654.2:c.583A>G, XM_011535654.1:c.583A>G, XM_011535655.3:c.583A>G, XM_011535655.2:c.583A>G, XM_011535655.1:c.583A>G, XM_005266881.3:c.583A>G, XM_005266881.2:c.583A>G, XM_005266881.1:c.583A>G, XM_011535656.3:c.244A>G, XM_011535656.2:c.244A>G, XM_011535656.1:c.244A>G, XM_017010645.2:c.583A>G, XM_017010645.1:c.583A>G, XM_047418555.1:c.583A>G, XM_047418554.1:c.583A>G, XP_005266937.1:p.Lys195Glu, NP_002022.1:p.Lys195Glu, XP_011533956.1:p.Lys195Glu, XP_011533957.1:p.Lys195Glu, XP_005266938.1:p.Lys195Glu, XP_011533958.1:p.Lys82Glu, XP_016866134.1:p.Lys195Glu, XP_047274511.1:p.Lys195Glu, XP_047274510.1:p.Lys195Glu

Select item 14755263934.

rs1475526393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:115968686 (GRCh38)
6:116289849 (GRCh37)
Canonical SPDI:: NC_000006.12:115968685:C:T
Gene:: FRK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/10 (GnomAD_exomes)
T=0.000098/26 (TOPMED)
T=0.000121/17 (GnomAD)
HGVS:: NC_000006.12:g.115968686C>T, NC_000006.11:g.116289849C>T, XM_005266880.5:c.520G>A, XM_005266880.4:c.520G>A, XM_005266880.3:c.520G>A, XM_005266880.2:c.520G>A, XM_005266880.1:c.520G>A, NM_002031.3:c.520G>A, NM_002031.2:c.520G>A, XM_011535654.3:c.520G>A, XM_011535654.2:c.520G>A, XM_011535654.1:c.520G>A, XM_011535655.3:c.520G>A, XM_011535655.2:c.520G>A, XM_011535655.1:c.520G>A, XM_005266881.3:c.520G>A, XM_005266881.2:c.520G>A, XM_005266881.1:c.520G>A, XM_011535656.3:c.181G>A, XM_011535656.2:c.181G>A, XM_011535656.1:c.181G>A, XM_017010645.2:c.520G>A, XM_017010645.1:c.520G>A, XM_047418555.1:c.520G>A, XM_047418554.1:c.520G>A, XP_005266937.1:p.Gly174Arg, NP_002022.1:p.Gly174Arg, XP_011533956.1:p.Gly174Arg, XP_011533957.1:p.Gly174Arg, XP_005266938.1:p.Gly174Arg, XP_011533958.1:p.Gly61Arg, XP_016866134.1:p.Gly174Arg, XP_047274511.1:p.Gly174Arg, XP_047274510.1:p.Gly174Arg

Select item 14752073595.

rs1475207359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:115967631 (GRCh38)
6:116288794 (GRCh37)
Canonical SPDI:: NC_000006.12:115967630:A:C
Gene:: FRK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.115967631A>C, NC_000006.11:g.116288794A>C, XM_005266880.5:c.719T>G, XM_005266880.4:c.719T>G, XM_005266880.3:c.719T>G, XM_005266880.2:c.719T>G, XM_005266880.1:c.719T>G, NM_002031.3:c.719T>G, NM_002031.2:c.719T>G, XM_011535654.3:c.719T>G, XM_011535654.2:c.719T>G, XM_011535654.1:c.719T>G, XM_011535655.3:c.719T>G, XM_011535655.2:c.719T>G, XM_011535655.1:c.719T>G, XM_005266881.3:c.719T>G, XM_005266881.2:c.719T>G, XM_005266881.1:c.719T>G, XM_011535656.3:c.380T>G, XM_011535656.2:c.380T>G, XM_011535656.1:c.380T>G, XM_017010645.2:c.719T>G, XM_017010645.1:c.719T>G, XM_047418555.1:c.719T>G, XM_047418554.1:c.719T>G, XP_005266937.1:p.Leu240Trp, NP_002022.1:p.Leu240Trp, XP_011533956.1:p.Leu240Trp, XP_011533957.1:p.Leu240Trp, XP_005266938.1:p.Leu240Trp, XP_011533958.1:p.Leu127Trp, XP_016866134.1:p.Leu240Trp, XP_047274511.1:p.Leu240Trp, XP_047274510.1:p.Leu240Trp

Select item 14749451546.

rs1474945154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:115968674 (GRCh38)
6:116289837 (GRCh37)
Canonical SPDI:: NC_000006.12:115968673:T:G
Gene:: FRK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.115968674T>G, NC_000006.11:g.116289837T>G, XM_005266880.5:c.532A>C, XM_005266880.4:c.532A>C, XM_005266880.3:c.532A>C, XM_005266880.2:c.532A>C, XM_005266880.1:c.532A>C, NM_002031.3:c.532A>C, NM_002031.2:c.532A>C, XM_011535654.3:c.532A>C, XM_011535654.2:c.532A>C, XM_011535654.1:c.532A>C, XM_011535655.3:c.532A>C, XM_011535655.2:c.532A>C, XM_011535655.1:c.532A>C, XM_005266881.3:c.532A>C, XM_005266881.2:c.532A>C, XM_005266881.1:c.532A>C, XM_011535656.3:c.193A>C, XM_011535656.2:c.193A>C, XM_011535656.1:c.193A>C, XM_017010645.2:c.532A>C, XM_017010645.1:c.532A>C, XM_047418555.1:c.532A>C, XM_047418554.1:c.532A>C, XP_005266937.1:p.Thr178Pro, NP_002022.1:p.Thr178Pro, XP_011533956.1:p.Thr178Pro, XP_011533957.1:p.Thr178Pro, XP_005266938.1:p.Thr178Pro, XP_011533958.1:p.Thr65Pro, XP_016866134.1:p.Thr178Pro, XP_047274511.1:p.Thr178Pro, XP_047274510.1:p.Thr178Pro

Select item 14734294637.

rs1473429463 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTG [Show Flanks]
Chromosome:: 6:115942616 (GRCh38)
6:116263780 (GRCh37)
Canonical SPDI:: NC_000006.12:115942616::GTG
Gene:: FRK (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency
MAF:: GTG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.115942616_115942617insGTG, NC_000006.11:g.116263779_116263780insGTG, XM_005266880.5:c.1315_1316insCAC, XM_005266880.4:c.1315_1316insCAC, XM_005266880.3:c.1315_1316insCAC, XM_005266880.2:c.1315_1316insCAC, XM_005266880.1:c.1315_1316insCAC, NM_002031.3:c.1315_1316insCAC, NM_002031.2:c.1315_1316insCAC, XM_011535654.3:c.1315_1316insCAC, XM_011535654.2:c.1315_1316insCAC, XM_011535654.1:c.1315_1316insCAC, XM_011535655.3:c.1315_1316insCAC, XM_011535655.2:c.1315_1316insCAC, XM_011535655.1:c.1315_1316insCAC, XM_005266881.3:c.1315_1316insCAC, XM_005266881.2:c.1315_1316insCAC, XM_005266881.1:c.1315_1316insCAC, XM_011535656.3:c.976_977insCAC, XM_011535656.2:c.976_977insCAC, XM_011535656.1:c.976_977insCAC, XM_017010645.2:c.1315_1316insCAC, XM_017010645.1:c.1315_1316insCAC, XM_047418555.1:c.1315_1316insCAC, XM_047418554.1:c.1315_1316insCAC, XP_005266937.1:p.Gly439delinsAlaArg, NP_002022.1:p.Gly439delinsAlaArg, XP_011533956.1:p.Gly439delinsAlaArg, XP_011533957.1:p.Gly439delinsAlaArg, XP_005266938.1:p.Gly439delinsAlaArg, XP_011533958.1:p.Gly326delinsAlaArg, XP_016866134.1:p.Gly439delinsAlaArg, XP_047274511.1:p.Gly439delinsAlaArg, XP_047274510.1:p.Gly439delinsAlaArg

Select item 14732697648.

rs1473269764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:115942536 (GRCh38)
6:116263699 (GRCh37)
Canonical SPDI:: NC_000006.12:115942535:T:C
Gene:: FRK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.115942536T>C, NC_000006.11:g.116263699T>C, XM_005266880.5:c.1396A>G, XM_005266880.4:c.1396A>G, XM_005266880.3:c.1396A>G, XM_005266880.2:c.1396A>G, XM_005266880.1:c.1396A>G, NM_002031.3:c.1396A>G, NM_002031.2:c.1396A>G, XM_011535654.3:c.1396A>G, XM_011535654.2:c.1396A>G, XM_011535654.1:c.1396A>G, XM_011535655.3:c.1396A>G, XM_011535655.2:c.1396A>G, XM_011535655.1:c.1396A>G, XM_005266881.3:c.1396A>G, XM_005266881.2:c.1396A>G, XM_005266881.1:c.1396A>G, XM_011535656.3:c.1057A>G, XM_011535656.2:c.1057A>G, XM_011535656.1:c.1057A>G, XM_017010645.2:c.1396A>G, XM_017010645.1:c.1396A>G, XM_047418555.1:c.1396A>G, XM_047418554.1:c.1396A>G, XP_005266937.1:p.Met466Val, NP_002022.1:p.Met466Val, XP_011533956.1:p.Met466Val, XP_011533957.1:p.Met466Val, XP_005266938.1:p.Met466Val, XP_011533958.1:p.Met353Val, XP_016866134.1:p.Met466Val, XP_047274511.1:p.Met466Val, XP_047274510.1:p.Met466Val

Select item 14726673599.

rs1472667359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:115956522 (GRCh38)
6:116277685 (GRCh37)
Canonical SPDI:: NC_000006.12:115956521:G:A
Gene:: FRK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.115956522G>A, NC_000006.11:g.116277685G>A, XM_005266880.5:c.888C>T, XM_005266880.4:c.888C>T, XM_005266880.3:c.888C>T, XM_005266880.2:c.888C>T, XM_005266880.1:c.888C>T, NM_002031.3:c.888C>T, NM_002031.2:c.888C>T, XM_011535654.3:c.888C>T, XM_011535654.2:c.888C>T, XM_011535654.1:c.888C>T, XM_011535655.3:c.888C>T, XM_011535655.2:c.888C>T, XM_011535655.1:c.888C>T, XM_005266881.3:c.888C>T, XM_005266881.2:c.888C>T, XM_005266881.1:c.888C>T, XM_011535656.3:c.549C>T, XM_011535656.2:c.549C>T, XM_011535656.1:c.549C>T, XM_017010645.2:c.888C>T, XM_017010645.1:c.888C>T, XM_047418555.1:c.888C>T, XM_047418554.1:c.888C>T

Select item 147019651610.

rs1470196516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:115943185 (GRCh38)
6:116264348 (GRCh37)
Canonical SPDI:: NC_000006.12:115943184:C:T
Gene:: FRK (Varview)
Functional Consequence:: 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_000006.12:g.115943185C>T, NC_000006.11:g.116264348C>T, XM_005266880.5:c.1141G>A, XM_005266880.4:c.1141G>A, XM_005266880.3:c.1141G>A, XM_005266880.2:c.1141G>A, XM_005266880.1:c.1141G>A, NM_002031.3:c.1141G>A, NM_002031.2:c.1141G>A, XM_011535654.3:c.1141G>A, XM_011535654.2:c.1141G>A, XM_011535654.1:c.1141G>A, XM_011535655.3:c.1141G>A, XM_011535655.2:c.1141G>A, XM_011535655.1:c.1141G>A, XM_005266881.3:c.1141G>A, XM_005266881.2:c.1141G>A, XM_005266881.1:c.1141G>A, XM_011535656.3:c.802G>A, XM_011535656.2:c.802G>A, XM_011535656.1:c.802G>A, XM_017010645.2:c.1141G>A, XM_017010645.1:c.1141G>A, XM_047418555.1:c.1141G>A, XM_047418554.1:c.1141G>A, XP_005266937.1:p.Val381Ile, NP_002022.1:p.Val381Ile, XP_011533956.1:p.Val381Ile, XP_011533957.1:p.Val381Ile, XP_005266938.1:p.Val381Ile, XP_011533958.1:p.Val268Ile, XP_016866134.1:p.Val381Ile, XP_047274511.1:p.Val381Ile, XP_047274510.1:p.Val381Ile

Select item 146752558811.

rs1467525588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:115942504 (GRCh38)
6:116263667 (GRCh37)
Canonical SPDI:: NC_000006.12:115942503:T:C
Gene:: FRK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.115942504T>C, NC_000006.11:g.116263667T>C, XM_005266880.5:c.1428A>G, XM_005266880.4:c.1428A>G, XM_005266880.3:c.1428A>G, XM_005266880.2:c.1428A>G, XM_005266880.1:c.1428A>G, NM_002031.3:c.1428A>G, NM_002031.2:c.1428A>G, XM_011535654.3:c.1428A>G, XM_011535654.2:c.1428A>G, XM_011535654.1:c.1428A>G, XM_011535655.3:c.1428A>G, XM_011535655.2:c.1428A>G, XM_011535655.1:c.1428A>G, XM_005266881.3:c.1428A>G, XM_005266881.2:c.1428A>G, XM_005266881.1:c.1428A>G, XM_011535656.3:c.1089A>G, XM_011535656.2:c.1089A>G, XM_011535656.1:c.1089A>G, XM_017010645.2:c.1428A>G, XM_017010645.1:c.1428A>G, XM_047418555.1:c.1428A>G, XM_047418554.1:c.1428A>G

Select item 146411042912.

rs1464110429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:116003894 (GRCh38)
6:116325057 (GRCh37)
Canonical SPDI:: NC_000006.12:116003893:C:T
Gene:: FRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.116003894C>T, NC_000006.11:g.116325057C>T, XM_005266880.5:c.449G>A, XM_005266880.4:c.449G>A, XM_005266880.3:c.449G>A, XM_005266880.2:c.449G>A, XM_005266880.1:c.449G>A, NM_002031.3:c.449G>A, NM_002031.2:c.449G>A, XM_011535654.3:c.449G>A, XM_011535654.2:c.449G>A, XM_011535654.1:c.449G>A, XM_011535655.3:c.449G>A, XM_011535655.2:c.449G>A, XM_011535655.1:c.449G>A, XM_005266881.3:c.449G>A, XM_005266881.2:c.449G>A, XM_005266881.1:c.449G>A, XM_011535656.3:c.110G>A, XM_011535656.2:c.110G>A, XM_011535656.1:c.110G>A, XM_017010645.2:c.449G>A, XM_017010645.1:c.449G>A, XM_047418555.1:c.449G>A, XM_047418554.1:c.449G>A, XP_005266937.1:p.Gly150Glu, NP_002022.1:p.Gly150Glu, XP_011533956.1:p.Gly150Glu, XP_011533957.1:p.Gly150Glu, XP_005266938.1:p.Gly150Glu, XP_011533958.1:p.Gly37Glu, XP_016866134.1:p.Gly150Glu, XP_047274511.1:p.Gly150Glu, XP_047274510.1:p.Gly150Glu

Select item 146175945213.

rs1461759452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:115942418 (GRCh38)
6:116263581 (GRCh37)
Canonical SPDI:: NC_000006.12:115942417:C:T
Gene:: FRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.115942418C>T, NC_000006.11:g.116263581C>T, XM_005266880.5:c.1514G>A, XM_005266880.4:c.1514G>A, XM_005266880.3:c.1514G>A, XM_005266880.2:c.1514G>A, XM_005266880.1:c.1514G>A, NM_002031.3:c.1514G>A, NM_002031.2:c.1514G>A, XM_011535654.3:c.1514G>A, XM_011535654.2:c.1514G>A, XM_011535654.1:c.1514G>A, XM_011535655.3:c.1514G>A, XM_011535655.2:c.1514G>A, XM_011535655.1:c.1514G>A, XM_005266881.3:c.1514G>A, XM_005266881.2:c.1514G>A, XM_005266881.1:c.1514G>A, XM_011535656.3:c.1175G>A, XM_011535656.2:c.1175G>A, XM_011535656.1:c.1175G>A, XM_017010645.2:c.1514G>A, XM_017010645.1:c.1514G>A, XM_047418555.1:c.1514G>A, XM_047418554.1:c.1514G>A, XP_005266937.1:p.Arg505Lys, NP_002022.1:p.Arg505Lys, XP_011533956.1:p.Arg505Lys, XP_011533957.1:p.Arg505Lys, XP_005266938.1:p.Arg505Lys, XP_011533958.1:p.Arg392Lys, XP_016866134.1:p.Arg505Lys, XP_047274511.1:p.Arg505Lys, XP_047274510.1:p.Arg505Lys

Select item 146127592414.

rs1461275924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:115944358 (GRCh38)
6:116265521 (GRCh37)
Canonical SPDI:: NC_000006.12:115944357:C:G
Gene:: FRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.115944358C>G, NC_000006.11:g.116265521C>G, XM_005266880.5:c.1026G>C, XM_005266880.4:c.1026G>C, XM_005266880.3:c.1026G>C, XM_005266880.2:c.1026G>C, XM_005266880.1:c.1026G>C, NM_002031.3:c.1026G>C, NM_002031.2:c.1026G>C, XM_011535654.3:c.1026G>C, XM_011535654.2:c.1026G>C, XM_011535654.1:c.1026G>C, XM_011535655.3:c.1026G>C, XM_011535655.2:c.1026G>C, XM_011535655.1:c.1026G>C, XM_005266881.3:c.1026G>C, XM_005266881.2:c.1026G>C, XM_005266881.1:c.1026G>C, XM_011535656.3:c.687G>C, XM_011535656.2:c.687G>C, XM_011535656.1:c.687G>C, XM_017010645.2:c.1026G>C, XM_017010645.1:c.1026G>C, XM_047418555.1:c.1026G>C, XM_047418554.1:c.1026G>C, XP_005266937.1:p.Met342Ile, NP_002022.1:p.Met342Ile, XP_011533956.1:p.Met342Ile, XP_011533957.1:p.Met342Ile, XP_005266938.1:p.Met342Ile, XP_011533958.1:p.Met229Ile, XP_016866134.1:p.Met342Ile, XP_047274511.1:p.Met342Ile, XP_047274510.1:p.Met342Ile

Select item 146126359615.

rs1461263596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:115943144 (GRCh38)
6:116264307 (GRCh37)
Canonical SPDI:: NC_000006.12:115943143:C:A,NC_000006.12:115943143:C:G
Gene:: FRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000006.12:g.115943144C>A, NC_000006.12:g.115943144C>G, NC_000006.11:g.116264307C>A, NC_000006.11:g.116264307C>G, XM_005266880.5:c.1182G>T, XM_005266880.5:c.1182G>C, XM_005266880.4:c.1182G>T, XM_005266880.4:c.1182G>C, XM_005266880.3:c.1182G>T, XM_005266880.3:c.1182G>C, XM_005266880.2:c.1182G>T, XM_005266880.2:c.1182G>C, XM_005266880.1:c.1182G>T, XM_005266880.1:c.1182G>C, NM_002031.3:c.1182G>T, NM_002031.3:c.1182G>C, NM_002031.2:c.1182G>T, NM_002031.2:c.1182G>C, XM_011535654.3:c.1182G>T, XM_011535654.3:c.1182G>C, XM_011535654.2:c.1182G>T, XM_011535654.2:c.1182G>C, XM_011535654.1:c.1182G>T, XM_011535654.1:c.1182G>C, XM_011535655.3:c.1182G>T, XM_011535655.3:c.1182G>C, XM_011535655.2:c.1182G>T, XM_011535655.2:c.1182G>C, XM_011535655.1:c.1182G>T, XM_011535655.1:c.1182G>C, XM_005266881.3:c.1182G>T, XM_005266881.3:c.1182G>C, XM_005266881.2:c.1182G>T, XM_005266881.2:c.1182G>C, XM_005266881.1:c.1182G>T, XM_005266881.1:c.1182G>C, XM_011535656.3:c.843G>T, XM_011535656.3:c.843G>C, XM_011535656.2:c.843G>T, XM_011535656.2:c.843G>C, XM_011535656.1:c.843G>T, XM_011535656.1:c.843G>C, XM_017010645.2:c.1182G>T, XM_017010645.2:c.1182G>C, XM_017010645.1:c.1182G>T, XM_017010645.1:c.1182G>C, XM_047418555.1:c.1182G>T, XM_047418555.1:c.1182G>C, XM_047418554.1:c.1182G>T, XM_047418554.1:c.1182G>C, XP_005266937.1:p.Lys394Asn, XP_005266937.1:p.Lys394Asn, NP_002022.1:p.Lys394Asn, NP_002022.1:p.Lys394Asn, XP_011533956.1:p.Lys394Asn, XP_011533956.1:p.Lys394Asn, XP_011533957.1:p.Lys394Asn, XP_011533957.1:p.Lys394Asn, XP_005266938.1:p.Lys394Asn, XP_005266938.1:p.Lys394Asn, XP_011533958.1:p.Lys281Asn, XP_011533958.1:p.Lys281Asn, XP_016866134.1:p.Lys394Asn, XP_016866134.1:p.Lys394Asn, XP_047274511.1:p.Lys394Asn, XP_047274511.1:p.Lys394Asn, XP_047274510.1:p.Lys394Asn, XP_047274510.1:p.Lys394Asn

Select item 145863161816.

rs1458631618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:115942552 (GRCh38)
6:116263715 (GRCh37)
Canonical SPDI:: NC_000006.12:115942551:C:T
Gene:: FRK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.115942552C>T, NC_000006.11:g.116263715C>T, XM_005266880.5:c.1380G>A, XM_005266880.4:c.1380G>A, XM_005266880.3:c.1380G>A, XM_005266880.2:c.1380G>A, XM_005266880.1:c.1380G>A, NM_002031.3:c.1380G>A, NM_002031.2:c.1380G>A, XM_011535654.3:c.1380G>A, XM_011535654.2:c.1380G>A, XM_011535654.1:c.1380G>A, XM_011535655.3:c.1380G>A, XM_011535655.2:c.1380G>A, XM_011535655.1:c.1380G>A, XM_005266881.3:c.1380G>A, XM_005266881.2:c.1380G>A, XM_005266881.1:c.1380G>A, XM_011535656.3:c.1041G>A, XM_011535656.2:c.1041G>A, XM_011535656.1:c.1041G>A, XM_017010645.2:c.1380G>A, XM_017010645.1:c.1380G>A, XM_047418555.1:c.1380G>A, XM_047418554.1:c.1380G>A

Select item 145553930417.

rs1455539304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:115944322 (GRCh38)
6:116265485 (GRCh37)
Canonical SPDI:: NC_000006.12:115944321:A:C
Gene:: FRK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.115944322A>C, NC_000006.11:g.116265485A>C, XM_005266880.5:c.1062T>G, XM_005266880.4:c.1062T>G, XM_005266880.3:c.1062T>G, XM_005266880.2:c.1062T>G, XM_005266880.1:c.1062T>G, NM_002031.3:c.1062T>G, NM_002031.2:c.1062T>G, XM_011535654.3:c.1062T>G, XM_011535654.2:c.1062T>G, XM_011535654.1:c.1062T>G, XM_011535655.3:c.1062T>G, XM_011535655.2:c.1062T>G, XM_011535655.1:c.1062T>G, XM_005266881.3:c.1062T>G, XM_005266881.2:c.1062T>G, XM_005266881.1:c.1062T>G, XM_011535656.3:c.723T>G, XM_011535656.2:c.723T>G, XM_011535656.1:c.723T>G, XM_017010645.2:c.1062T>G, XM_017010645.1:c.1062T>G, XM_047418555.1:c.1062T>G, XM_047418554.1:c.1062T>G, XP_005266937.1:p.Asp354Glu, NP_002022.1:p.Asp354Glu, XP_011533956.1:p.Asp354Glu, XP_011533957.1:p.Asp354Glu, XP_005266938.1:p.Asp354Glu, XP_011533958.1:p.Asp241Glu, XP_016866134.1:p.Asp354Glu, XP_047274511.1:p.Asp354Glu, XP_047274510.1:p.Asp354Glu

Select item 145406742118.

rs1454067421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:116003970 (GRCh38)
6:116325133 (GRCh37)
Canonical SPDI:: NC_000006.12:116003969:C:T
Gene:: FRK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.116003970C>T, NC_000006.11:g.116325133C>T, XM_005266880.5:c.373G>A, XM_005266880.4:c.373G>A, XM_005266880.3:c.373G>A, XM_005266880.2:c.373G>A, XM_005266880.1:c.373G>A, NM_002031.3:c.373G>A, NM_002031.2:c.373G>A, XM_011535654.3:c.373G>A, XM_011535654.2:c.373G>A, XM_011535654.1:c.373G>A, XM_011535655.3:c.373G>A, XM_011535655.2:c.373G>A, XM_011535655.1:c.373G>A, XM_005266881.3:c.373G>A, XM_005266881.2:c.373G>A, XM_005266881.1:c.373G>A, XM_011535656.3:c.34G>A, XM_011535656.2:c.34G>A, XM_011535656.1:c.34G>A, XM_017010645.2:c.373G>A, XM_017010645.1:c.373G>A, XM_047418555.1:c.373G>A, XM_047418554.1:c.373G>A, XP_005266937.1:p.Asp125Asn, NP_002022.1:p.Asp125Asn, XP_011533956.1:p.Asp125Asn, XP_011533957.1:p.Asp125Asn, XP_005266938.1:p.Asp125Asn, XP_011533958.1:p.Asp12Asn, XP_016866134.1:p.Asp125Asn, XP_047274511.1:p.Asp125Asn, XP_047274510.1:p.Asp125Asn

Select item 145267434619.

rs1452674346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:115944366 (GRCh38)
6:116265529 (GRCh37)
Canonical SPDI:: NC_000006.12:115944365:A:G
Gene:: FRK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.115944366A>G, NC_000006.11:g.116265529A>G, XM_005266880.5:c.1018T>C, XM_005266880.4:c.1018T>C, XM_005266880.3:c.1018T>C, XM_005266880.2:c.1018T>C, XM_005266880.1:c.1018T>C, NM_002031.3:c.1018T>C, NM_002031.2:c.1018T>C, XM_011535654.3:c.1018T>C, XM_011535654.2:c.1018T>C, XM_011535654.1:c.1018T>C, XM_011535655.3:c.1018T>C, XM_011535655.2:c.1018T>C, XM_011535655.1:c.1018T>C, XM_005266881.3:c.1018T>C, XM_005266881.2:c.1018T>C, XM_005266881.1:c.1018T>C, XM_011535656.3:c.679T>C, XM_011535656.2:c.679T>C, XM_011535656.1:c.679T>C, XM_017010645.2:c.1018T>C, XM_017010645.1:c.1018T>C, XM_047418555.1:c.1018T>C, XM_047418554.1:c.1018T>C, XP_005266937.1:p.Ser340Pro, NP_002022.1:p.Ser340Pro, XP_011533956.1:p.Ser340Pro, XP_011533957.1:p.Ser340Pro, XP_005266938.1:p.Ser340Pro, XP_011533958.1:p.Ser227Pro, XP_016866134.1:p.Ser340Pro, XP_047274511.1:p.Ser340Pro, XP_047274510.1:p.Ser340Pro

Select item 144955724720.

rs1449557247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:115943081 (GRCh38)
6:116264244 (GRCh37)
Canonical SPDI:: NC_000006.12:115943080:A:G
Gene:: FRK (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=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.115943081A>G, NC_000006.11:g.116264244A>G, XM_005266880.5:c.1245T>C, XM_005266880.4:c.1245T>C, XM_005266880.3:c.1245T>C, XM_005266880.2:c.1245T>C, XM_005266880.1:c.1245T>C, NM_002031.3:c.1245T>C, NM_002031.2:c.1245T>C, XM_011535654.3:c.1245T>C, XM_011535654.2:c.1245T>C, XM_011535654.1:c.1245T>C, XM_011535655.3:c.1245T>C, XM_011535655.2:c.1245T>C, XM_011535655.1:c.1245T>C, XM_005266881.3:c.1245T>C, XM_005266881.2:c.1245T>C, XM_005266881.1:c.1245T>C, XM_011535656.3:c.906T>C, XM_011535656.2:c.906T>C, XM_011535656.1:c.906T>C, XM_017010645.2:c.1245T>C, XM_017010645.1:c.1245T>C, XM_047418555.1:c.1245T>C, XM_047418554.1:c.1245T>C

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