SNP Links for Protein (Select 148612803) - SNP

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Links from Protein

Items: 1 to 20 of 661

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Select item 14909450081.

rs1490945008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52573626 (GRCh38)
12:52967410 (GRCh37)
Canonical SPDI:: NC_000012.12:52573625:T:C
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52573626T>C, NC_000012.11:g.52967410T>C, NG_012321.1:g.5200A>G, NM_175053.4:c.152A>G, NM_175053.3:c.152A>G, NP_778223.2:p.Tyr51Cys

Select item 14907474312.

rs1490747431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52573632 (GRCh38)
12:52967416 (GRCh37)
Canonical SPDI:: NC_000012.12:52573631:C:T
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52573632C>T, NC_000012.11:g.52967416C>T, NG_012321.1:g.5194G>A, NM_175053.4:c.146G>A, NM_175053.3:c.146G>A, NP_778223.2:p.Ser49Asn

Select item 14892222663.

rs1489222266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52572507 (GRCh38)
12:52966291 (GRCh37)
Canonical SPDI:: NC_000012.12:52572506:C:T
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52572507C>T, NC_000012.11:g.52966291C>T, NG_012321.1:g.6319G>A, NM_175053.4:c.632G>A, NM_175053.3:c.632G>A, NP_778223.2:p.Arg211Lys

Select item 14884952214.

rs1488495221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52567008 (GRCh38)
12:52960792 (GRCh37)
Canonical SPDI:: NC_000012.12:52567007:G:T
Gene:: KRT74 (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_000012.12:g.52567008G>T, NC_000012.11:g.52960792G>T, NG_012321.1:g.11818C>A, NM_175053.4:c.1551C>A, NM_175053.3:c.1551C>A, NP_778223.2:p.Ser517Arg

Select item 14862169585.

rs1486216958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:52568306 (GRCh38)
12:52962090 (GRCh37)
Canonical SPDI:: NC_000012.12:52568305:C:A
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52568306C>A, NC_000012.11:g.52962090C>A, NG_012321.1:g.10520G>T, NM_175053.4:c.1218G>T, NM_175053.3:c.1218G>T, NP_778223.2:p.Glu406Asp

Select item 14855738986.

rs1485573898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52567014 (GRCh38)
12:52960798 (GRCh37)
Canonical SPDI:: NC_000012.12:52567013:G:A
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52567014G>A, NC_000012.11:g.52960798G>A, NG_012321.1:g.11812C>T, NM_175053.4:c.1545C>T, NM_175053.3:c.1545C>T

Select item 14846826697.

rs1484682669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52573570 (GRCh38)
12:52967354 (GRCh37)
Canonical SPDI:: NC_000012.12:52573569:C:T
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.52573570C>T, NC_000012.11:g.52967354C>T, NG_012321.1:g.5256G>A, NM_175053.4:c.208G>A, NM_175053.3:c.208G>A, NP_778223.2:p.Ala70Thr

Select item 14845650888.

rs1484565088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52572509 (GRCh38)
12:52966293 (GRCh37)
Canonical SPDI:: NC_000012.12:52572508:C:T
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.52572509C>T, NC_000012.11:g.52966293C>T, NG_012321.1:g.6317G>A, NM_175053.4:c.630G>A, NM_175053.3:c.630G>A

Select item 14831263749.

rs1483126374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52573694 (GRCh38)
12:52967478 (GRCh37)
Canonical SPDI:: NC_000012.12:52573693:C:G
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52573694C>G, NC_000012.11:g.52967478C>G, NG_012321.1:g.5132G>C, NM_175053.4:c.84G>C, NM_175053.3:c.84G>C

Select item 148027152810.

rs1480271528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:52573709 (GRCh38)
12:52967493 (GRCh37)
Canonical SPDI:: NC_000012.12:52573708:C:A
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/10 (GnomAD_exomes)
A=0.000102/27 (TOPMED)
A=0.000143/20 (GnomAD)
HGVS:: NC_000012.12:g.52573709C>A, NC_000012.11:g.52967493C>A, NG_012321.1:g.5117G>T, NM_175053.4:c.69G>T, NM_175053.3:c.69G>T

Select item 147936924811.

rs1479369248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52571986 (GRCh38)
12:52965770 (GRCh37)
Canonical SPDI:: NC_000012.12:52571985:G:A
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52571986G>A, NC_000012.11:g.52965770G>A, NG_012321.1:g.6840C>T, NM_175053.4:c.705C>T, NM_175053.3:c.705C>T

Select item 147827992712.

rs1478279927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:52567660 (GRCh38)
12:52961444 (GRCh37)
Canonical SPDI:: NC_000012.12:52567659:G:C
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52567660G>C, NC_000012.11:g.52961444G>C, NG_012321.1:g.11166C>G, NM_175053.4:c.1389C>G, NM_175053.3:c.1389C>G, NP_778223.2:p.Ile463Met

Select item 147685246313.

rs1476852463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:52570729 (GRCh38)
12:52964513 (GRCh37)
Canonical SPDI:: NC_000012.12:52570728:C:G,NC_000012.12:52570728:C:T
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52570729C>G, NC_000012.12:g.52570729C>T, NC_000012.11:g.52964513C>G, NC_000012.11:g.52964513C>T, NG_012321.1:g.8097G>C, NG_012321.1:g.8097G>A, NM_175053.4:c.948G>C, NM_175053.4:c.948G>A, NM_175053.3:c.948G>C, NM_175053.3:c.948G>A, NP_778223.2:p.Met316Ile, NP_778223.2:p.Met316Ile

Select item 147523509714.

rs1475235097 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:52571363 (GRCh38)
12:52965147 (GRCh37)
Canonical SPDI:: NC_000012.12:52571362:T:
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.52571363del, NC_000012.11:g.52965147del, NG_012321.1:g.7463del, NM_175053.4:c.839del, NM_175053.3:c.839del, NP_778223.2:p.Asp280fs

Select item 147336841315.

rs1473368413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52567121 (GRCh38)
12:52960905 (GRCh37)
Canonical SPDI:: NC_000012.12:52567120:C:G
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52567121C>G, NC_000012.11:g.52960905C>G, NG_012321.1:g.11705G>C, NM_175053.4:c.1438G>C, NM_175053.3:c.1438G>C, NP_778223.2:p.Gly480Arg

Select item 147190040016.

rs1471900400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:52572590 (GRCh38)
12:52966374 (GRCh37)
Canonical SPDI:: NC_000012.12:52572589:G:C
Gene:: KRT74 (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.52572590G>C, NC_000012.11:g.52966374G>C, NG_012321.1:g.6236C>G, NM_175053.4:c.549C>G, NM_175053.3:c.549C>G, NP_778223.2:p.Cys183Trp

Select item 147188833917.

rs1471888339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:52573373 (GRCh38)
12:52967157 (GRCh37)
Canonical SPDI:: NC_000012.12:52573372:C:G,NC_000012.12:52573372:C:T
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52573373C>G, NC_000012.12:g.52573373C>T, NC_000012.11:g.52967157C>G, NC_000012.11:g.52967157C>T, NG_012321.1:g.5453G>C, NG_012321.1:g.5453G>A, NM_175053.4:c.405G>C, NM_175053.4:c.405G>A, NM_175053.3:c.405G>C, NM_175053.3:c.405G>A, NP_778223.2:p.Lys135Asn

Select item 147178678918.

rs1471786789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52572666 (GRCh38)
12:52966450 (GRCh37)
Canonical SPDI:: NC_000012.12:52572665:A:G
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52572666A>G, NC_000012.11:g.52966450A>G, NG_012321.1:g.6160T>C, NM_175053.4:c.473T>C, NM_175053.3:c.473T>C, NP_778223.2:p.Val158Ala

Select item 147143970319.

rs1471439703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:52567124 (GRCh38)
12:52960908 (GRCh37)
Canonical SPDI:: NC_000012.12:52567123:C:A,NC_000012.12:52567123:C:T
Gene:: KRT74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.52567124C>A, NC_000012.12:g.52567124C>T, NC_000012.11:g.52960908C>A, NC_000012.11:g.52960908C>T, NG_012321.1:g.11702G>T, NG_012321.1:g.11702G>A, NM_175053.4:c.1435G>T, NM_175053.4:c.1435G>A, NM_175053.3:c.1435G>T, NM_175053.3:c.1435G>A, NP_778223.2:p.Ala479Ser, NP_778223.2:p.Ala479Thr

Select item 147009351720.

rs1470093517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52570806 (GRCh38)
12:52964590 (GRCh37)
Canonical SPDI:: NC_000012.12:52570805:T:C
Gene:: KRT74 (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.52570806T>C, NC_000012.11:g.52964590T>C, NG_012321.1:g.8020A>G, NM_175053.4:c.871A>G, NM_175053.3:c.871A>G, NP_778223.2:p.Ser291Gly

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