SNP Links for Protein (Select 767974220) - SNP

Links from Protein

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Select item 14890805851.

rs1489080585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:52380432 (GRCh38)
12:52774216 (GRCh37)
Canonical SPDI:: NC_000012.12:52380431:A:C,NC_000012.12:52380431:A:G,NC_000012.12:52380431:A:T
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52380432A>C, NC_000012.12:g.52380432A>G, NC_000012.12:g.52380432A>T, NC_000012.11:g.52774216A>C, NC_000012.11:g.52774216A>G, NC_000012.11:g.52774216A>T, NG_012299.1:g.10202T>G, NG_012299.1:g.10202T>C, NG_012299.1:g.10202T>A, NM_033045.4:c.1355T>G, NM_033045.4:c.1355T>C, NM_033045.4:c.1355T>A, NM_033045.3:c.1355T>G, NM_033045.3:c.1355T>C, NM_033045.3:c.1355T>A, XM_011538335.3:c.1355T>G, XM_011538335.3:c.1355T>C, XM_011538335.3:c.1355T>A, XM_011538335.2:c.1355T>G, XM_011538335.2:c.1355T>C, XM_011538335.2:c.1355T>A, XM_011538335.1:c.1355T>G, XM_011538335.1:c.1355T>C, XM_011538335.1:c.1355T>A, NP_149034.2:p.Met452Arg, NP_149034.2:p.Met452Thr, NP_149034.2:p.Met452Lys, XP_011536637.1:p.Met452Arg, XP_011536637.1:p.Met452Thr, XP_011536637.1:p.Met452Lys

Select item 14874170262.

rs1487417026 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGCGG [Show Flanks]
Chromosome:: 12:52378377 (GRCh38)
12:52772162 (GRCh37)
Canonical SPDI:: NC_000012.12:52378377:CGGCTGCGG:CGGCTGCGGCTGCGG
Gene:: KRT84 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGCTGCGGCTGCGG=0./0 (ALFA)
CGGCTG=0./0 (GnomAD)
CGGCTG=0.000004/1 (TOPMED)
CGGCTG=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.52378381_52378386dup, NC_000012.11:g.52772165_52772170dup, NG_012299.1:g.12251_12256dup

Select item 14873292593.

rs1487329259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52383673 (GRCh38)
12:52777457 (GRCh37)
Canonical SPDI:: NC_000012.12:52383672:C:T
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52383673C>T, NC_000012.11:g.52777457C>T, NG_012299.1:g.6961G>A, NM_033045.4:c.672G>A, NM_033045.3:c.672G>A, XM_011538335.3:c.672G>A, XM_011538335.2:c.672G>A, XM_011538335.1:c.672G>A

Select item 14858984014.

rs1485898401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52379891 (GRCh38)
12:52773675 (GRCh37)
Canonical SPDI:: NC_000012.12:52379890:C:T
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.52379891C>T, NC_000012.11:g.52773675C>T, NG_012299.1:g.10743G>A, NM_033045.4:c.1441G>A, NM_033045.3:c.1441G>A, XM_011538335.3:c.1441G>A, XM_011538335.2:c.1441G>A, XM_011538335.1:c.1441G>A, NP_149034.2:p.Gly481Arg, XP_011536637.1:p.Gly481Arg

Select item 14856622955.

rs1485662295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:52383598 (GRCh38)
12:52777382 (GRCh37)
Canonical SPDI:: NC_000012.12:52383597:G:C
Gene:: KRT84 (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_000012.12:g.52383598G>C, NC_000012.11:g.52777382G>C, NG_012299.1:g.7036C>G, NM_033045.4:c.747C>G, NM_033045.3:c.747C>G, XM_011538335.3:c.747C>G, XM_011538335.2:c.747C>G, XM_011538335.1:c.747C>G, NP_149034.2:p.Phe249Leu, XP_011536637.1:p.Phe249Leu

Select item 14832721786.

rs1483272178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52378366 (GRCh38)
12:52772150 (GRCh37)
Canonical SPDI:: NC_000012.12:52378365:G:A,NC_000012.12:52378365:G:T
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000028/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
A=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.52378366G>A, NC_000012.12:g.52378366G>T, NC_000012.11:g.52772150G>A, NC_000012.11:g.52772150G>T, NG_012299.1:g.12268C>T, NG_012299.1:g.12268C>A, NM_033045.4:c.1471C>T, NM_033045.4:c.1471C>A, NM_033045.3:c.1471C>T, NM_033045.3:c.1471C>A, XM_011538335.3:c.1471C>T, XM_011538335.3:c.1471C>A, XM_011538335.2:c.1471C>T, XM_011538335.2:c.1471C>A, XM_011538335.1:c.1471C>T, XM_011538335.1:c.1471C>A, NP_149034.2:p.Arg491Trp, XP_011536637.1:p.Arg491Trp

Select item 14822384147.

rs1482238414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52378156 (GRCh38)
12:52771940 (GRCh37)
Canonical SPDI:: NC_000012.12:52378155:C:T
Gene:: KRT84 (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=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52378156C>T, NC_000012.11:g.52771940C>T, NG_012299.1:g.12478G>A, NM_033045.4:c.1681G>A, NM_033045.3:c.1681G>A, XM_011538335.3:c.1681G>A, XM_011538335.2:c.1681G>A, XM_011538335.1:c.1681G>A, NP_149034.2:p.Ala561Thr, XP_011536637.1:p.Ala561Thr

Select item 14814554018.

rs1481455401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52385062 (GRCh38)
12:52778846 (GRCh37)
Canonical SPDI:: NC_000012.12:52385061:T:C
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52385062T>C, NC_000012.11:g.52778846T>C, NG_012299.1:g.5572A>G, NM_033045.4:c.524A>G, NM_033045.3:c.524A>G, XM_011538335.3:c.524A>G, XM_011538335.2:c.524A>G, XM_011538335.1:c.524A>G, NP_149034.2:p.Lys175Arg, XP_011536637.1:p.Lys175Arg

Select item 14812735469.

rs1481273546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52383788 (GRCh38)
12:52777572 (GRCh37)
Canonical SPDI:: NC_000012.12:52383787:A:G
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52383788A>G, NC_000012.11:g.52777572A>G, NG_012299.1:g.6846T>C, NM_033045.4:c.557T>C, NM_033045.3:c.557T>C, XM_011538335.3:c.557T>C, XM_011538335.2:c.557T>C, XM_011538335.1:c.557T>C, NP_149034.2:p.Leu186Pro, XP_011536637.1:p.Leu186Pro

Select item 147937275710.

rs1479372757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:52385572 (GRCh38)
12:52779356 (GRCh37)
Canonical SPDI:: NC_000012.12:52385571:G:C
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.52385572G>C, NC_000012.11:g.52779356G>C, NG_012299.1:g.5062C>G, NM_033045.4:c.14C>G, NM_033045.3:c.14C>G, XM_011538335.3:c.14C>G, XM_011538335.2:c.14C>G, XM_011538335.1:c.14C>G, NP_149034.2:p.Ser5Cys, XP_011536637.1:p.Ser5Cys

Select item 147916724311.

rs1479167243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52383617 (GRCh38)
12:52777401 (GRCh37)
Canonical SPDI:: NC_000012.12:52383616:T:C
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52383617T>C, NC_000012.11:g.52777401T>C, NG_012299.1:g.7017A>G, NM_033045.4:c.728A>G, NM_033045.3:c.728A>G, XM_011538335.3:c.728A>G, XM_011538335.2:c.728A>G, XM_011538335.1:c.728A>G, NP_149034.2:p.Gln243Arg, XP_011536637.1:p.Gln243Arg

Select item 147702437512.

rs1477024375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52385402 (GRCh38)
12:52779186 (GRCh37)
Canonical SPDI:: NC_000012.12:52385401:A:G
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52385402A>G, NC_000012.11:g.52779186A>G, NG_012299.1:g.5232T>C, NM_033045.4:c.184T>C, NM_033045.3:c.184T>C, XM_011538335.3:c.184T>C, XM_011538335.2:c.184T>C, XM_011538335.1:c.184T>C, NP_149034.2:p.Ser62Pro, XP_011536637.1:p.Ser62Pro

Select item 147555898413.

rs1475558984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52385331 (GRCh38)
12:52779115 (GRCh37)
Canonical SPDI:: NC_000012.12:52385330:C:T
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52385331C>T, NC_000012.11:g.52779115C>T, NG_012299.1:g.5303G>A, NM_033045.4:c.255G>A, NM_033045.3:c.255G>A, XM_011538335.3:c.255G>A, XM_011538335.2:c.255G>A, XM_011538335.1:c.255G>A, NP_149034.2:p.Met85Ile, XP_011536637.1:p.Met85Ile

Select item 147073814514.

rs1470738145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52383634 (GRCh38)
12:52777418 (GRCh37)
Canonical SPDI:: NC_000012.12:52383633:A:G
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52383634A>G, NC_000012.11:g.52777418A>G, NG_012299.1:g.7000T>C, NM_033045.4:c.711T>C, NM_033045.3:c.711T>C, XM_011538335.3:c.711T>C, XM_011538335.2:c.711T>C, XM_011538335.1:c.711T>C

Select item 146318132315.

rs1463181323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:52378298 (GRCh38)
12:52772082 (GRCh37)
Canonical SPDI:: NC_000012.12:52378297:G:A,NC_000012.12:52378297:G:C
Gene:: KRT84 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52378298G>A, NC_000012.12:g.52378298G>C, NC_000012.11:g.52772082G>A, NC_000012.11:g.52772082G>C, NG_012299.1:g.12336C>T, NG_012299.1:g.12336C>G, NM_033045.4:c.1539C>T, NM_033045.4:c.1539C>G, NM_033045.3:c.1539C>T, NM_033045.3:c.1539C>G, XM_011538335.3:c.1539C>T, XM_011538335.3:c.1539C>G, XM_011538335.2:c.1539C>T, XM_011538335.2:c.1539C>G, XM_011538335.1:c.1539C>T, XM_011538335.1:c.1539C>G

Select item 146175374616.

rs1461753746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:52383745 (GRCh38)
12:52777529 (GRCh37)
Canonical SPDI:: NC_000012.12:52383744:G:A,NC_000012.12:52383744:G:C
Gene:: KRT84 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.52383745G>A, NC_000012.12:g.52383745G>C, NC_000012.11:g.52777529G>A, NC_000012.11:g.52777529G>C, NG_012299.1:g.6889C>T, NG_012299.1:g.6889C>G, NM_033045.4:c.600C>T, NM_033045.4:c.600C>G, NM_033045.3:c.600C>T, NM_033045.3:c.600C>G, XM_011538335.3:c.600C>T, XM_011538335.3:c.600C>G, XM_011538335.2:c.600C>T, XM_011538335.2:c.600C>G, XM_011538335.1:c.600C>T, XM_011538335.1:c.600C>G

Select item 146040697917.

rs1460406979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52383032 (GRCh38)
12:52776816 (GRCh37)
Canonical SPDI:: NC_000012.12:52383031:A:G
Gene:: KRT84 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.52383032A>G, NC_000012.11:g.52776816A>G, NG_012299.1:g.7602T>C, NM_033045.4:c.789T>C, NM_033045.3:c.789T>C, XM_011538335.3:c.789T>C, XM_011538335.2:c.789T>C, XM_011538335.1:c.789T>C

Select item 145836625718.

rs1458366257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52380395 (GRCh38)
12:52774179 (GRCh37)
Canonical SPDI:: NC_000012.12:52380394:G:A
Gene:: KRT84 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52380395G>A, NC_000012.11:g.52774179G>A, NG_012299.1:g.10239C>T, NM_033045.4:c.1392C>T, NM_033045.3:c.1392C>T, XM_011538335.3:c.1392C>T, XM_011538335.2:c.1392C>T, XM_011538335.1:c.1392C>T

Select item 145830709919.

rs1458307099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52380461 (GRCh38)
12:52774245 (GRCh37)
Canonical SPDI:: NC_000012.12:52380460:C:T
Gene:: KRT84 (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 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.52380461C>T, NC_000012.11:g.52774245C>T, NG_012299.1:g.10173G>A, NM_033045.4:c.1326G>A, NM_033045.3:c.1326G>A, XM_011538335.3:c.1326G>A, XM_011538335.2:c.1326G>A, XM_011538335.1:c.1326G>A

Select item 145775049520.

rs1457750495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52385207 (GRCh38)
12:52778991 (GRCh37)
Canonical SPDI:: NC_000012.12:52385206:C:T
Gene:: KRT84 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52385207C>T, NC_000012.11:g.52778991C>T, NG_012299.1:g.5427G>A, NM_033045.4:c.379G>A, NM_033045.3:c.379G>A, XM_011538335.3:c.379G>A, XM_011538335.2:c.379G>A, XM_011538335.1:c.379G>A, NP_149034.2:p.Gly127Arg, XP_011536637.1:p.Gly127Arg

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