SNP Links for Protein (Select 4502985) - SNP

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Links from Protein

Items: 1 to 20 of 73

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Select item 14764469361.

rs1476446936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35651324 (GRCh38)
19:36142226 (GRCh37)
Canonical SPDI:: NC_000019.10:35651323:T:C
Gene:: COX6B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35651324T>C, NC_000019.9:g.36142226T>C, NG_012193.1:g.8072T>C, NM_001863.5:c.81T>C, NM_001863.4:c.81T>C

Select item 14570838452.

rs1457083845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:35658625 (GRCh38)
19:36149527 (GRCh37)
Canonical SPDI:: NC_000019.10:35658624:G:C,NC_000019.10:35658624:G:T
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.35658625G>C, NC_000019.10:g.35658625G>T, NC_000019.9:g.36149527G>C, NC_000019.9:g.36149527G>T, NG_012193.1:g.15373G>C, NG_012193.1:g.15373G>T, NM_001863.5:c.239G>C, NM_001863.5:c.239G>T, NM_001863.4:c.239G>C, NM_001863.4:c.239G>T, NP_001854.1:p.Gly80Ala, NP_001854.1:p.Gly80Val

Select item 14551241083.

rs1455124108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:35651298 (GRCh38)
19:36142200 (GRCh37)
Canonical SPDI:: NC_000019.10:35651297:A:G,NC_000019.10:35651297:A:T
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35651298A>G, NC_000019.10:g.35651298A>T, NC_000019.9:g.36142200A>G, NC_000019.9:g.36142200A>T, NG_012193.1:g.8046A>G, NG_012193.1:g.8046A>T, NM_001863.5:c.55A>G, NM_001863.5:c.55A>T, NM_001863.4:c.55A>G, NM_001863.4:c.55A>T, NP_001854.1:p.Ser19Gly, NP_001854.1:p.Ser19Cys

Select item 14519393054.

rs1451939305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35654619 (GRCh38)
19:36145521 (GRCh37)
Canonical SPDI:: NC_000019.10:35654618:C:T
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.35654619C>T, NC_000019.9:g.36145521C>T, NG_012193.1:g.11367C>T, NM_001863.5:c.155C>T, NM_001863.4:c.155C>T, NP_001854.1:p.Ser52Phe

Select item 14494477285.

rs1449447728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:35651284 (GRCh38)
19:36142186 (GRCh37)
Canonical SPDI:: NC_000019.10:35651283:C:G
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35651284C>G, NC_000019.9:g.36142186C>G, NG_012193.1:g.8032C>G, NM_001863.5:c.41C>G, NM_001863.4:c.41C>G, NP_001854.1:p.Thr14Ser

Select item 14187270086.

rs1418727008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35651346 (GRCh38)
19:36142248 (GRCh37)
Canonical SPDI:: NC_000019.10:35651345:C:T
Gene:: COX6B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.35651346C>T, NC_000019.9:g.36142248C>T, NG_012193.1:g.8094C>T, NM_001863.5:c.103C>T, NM_001863.4:c.103C>T

Select item 14115110467.

rs1411511046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35654659 (GRCh38)
19:36145561 (GRCh37)
Canonical SPDI:: NC_000019.10:35654658:C:T
Gene:: COX6B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35654659C>T, NC_000019.9:g.36145561C>T, NG_012193.1:g.11407C>T, NM_001863.5:c.195C>T, NM_001863.4:c.195C>T

Select item 14076046898.

rs1407604689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35654649 (GRCh38)
19:36145551 (GRCh37)
Canonical SPDI:: NC_000019.10:35654648:A:G
Gene:: COX6B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35654649A>G, NC_000019.9:g.36145551A>G, NG_012193.1:g.11397A>G, NM_001863.5:c.185A>G, NM_001863.4:c.185A>G, NP_001854.1:p.Gln62Arg

Select item 13667606449.

rs1366760644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:35654592 (GRCh38)
19:36145494 (GRCh37)
Canonical SPDI:: NC_000019.10:35654591:C:G
Gene:: COX6B1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.35654592C>G, NC_000019.9:g.36145494C>G, NG_012193.1:g.11340C>G, NM_001863.5:c.128C>G, NM_001863.4:c.128C>G, NP_001854.1:p.Ala43Gly

Select item 134957055810.

rs1349570558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:35654643 (GRCh38)
19:36145545 (GRCh37)
Canonical SPDI:: NC_000019.10:35654642:T:C
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.35654643T>C, NC_000019.9:g.36145545T>C, NG_012193.1:g.11391T>C, NM_001863.5:c.179T>C, NM_001863.4:c.179T>C, NP_001854.1:p.Val60Ala

Select item 134625818111.

rs1346258181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:35654667 (GRCh38)
19:36145569 (GRCh37)
Canonical SPDI:: NC_000019.10:35654666:C:T
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35654667C>T, NC_000019.9:g.36145569C>T, NG_012193.1:g.11415C>T, NM_001863.5:c.203C>T, NM_001863.4:c.203C>T, NP_001854.1:p.Ser68Phe

Select item 134089470012.

rs1340894700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:35651254 (GRCh38)
19:36142156 (GRCh37)
Canonical SPDI:: NC_000019.10:35651253:A:C
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35651254A>C, NC_000019.9:g.36142156A>C, NG_012193.1:g.8002A>C, NM_001863.5:c.11A>C, NM_001863.4:c.11A>C, NP_001854.1:p.Asp4Ala

Select item 133816135813.

rs1338161358 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG [Show Flanks]
Chromosome:: 19:35654585 (GRCh38)
19:36145488 (GRCh37)
Canonical SPDI:: NC_000019.10:35654585:AGAAG:AGAAGAAG
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: AGAAGAAG=0./0 (ALFA)
AGA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35654588_35654590dup, NC_000019.9:g.36145490_36145492dup, NG_012193.1:g.11336_11338dup, NM_001863.5:c.124_126dup, NM_001863.4:c.124_126dup, NP_001854.1:p.Lys42dup

Select item 133298718614.

rs1332987186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35654583 (GRCh38)
19:36145485 (GRCh37)
Canonical SPDI:: NC_000019.10:35654582:G:A
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.35654583G>A, NC_000019.9:g.36145485G>A, NG_012193.1:g.11331G>A, NM_001863.5:c.119G>A, NM_001863.4:c.119G>A, NP_001854.1:p.Cys40Tyr

Select item 132798144215.

rs1327981442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35654594 (GRCh38)
19:36145496 (GRCh37)
Canonical SPDI:: NC_000019.10:35654593:A:G
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.35654594A>G, NC_000019.9:g.36145496A>G, NG_012193.1:g.11342A>G, NM_001863.5:c.130A>G, NM_001863.4:c.130A>G, NP_001854.1:p.Met44Val

Select item 130973358016.

rs1309733580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35651278 (GRCh38)
19:36142180 (GRCh37)
Canonical SPDI:: NC_000019.10:35651277:A:G
Gene:: COX6B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35651278A>G, NC_000019.9:g.36142180A>G, NG_012193.1:g.8026A>G, NM_001863.5:c.35A>G, NM_001863.4:c.35A>G, NP_001854.1:p.Tyr12Cys

Select item 130535899017.

rs1305358990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:35654650 (GRCh38)
19:36145552 (GRCh37)
Canonical SPDI:: NC_000019.10:35654649:G:C
Gene:: COX6B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35654650G>C, NC_000019.9:g.36145552G>C, NG_012193.1:g.11398G>C, NM_001863.5:c.186G>C, NM_001863.4:c.186G>C, NP_001854.1:p.Gln62His

Select item 129573321018.

rs1295733210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:35651335 (GRCh38)
19:36142237 (GRCh37)
Canonical SPDI:: NC_000019.10:35651334:G:A
Gene:: COX6B1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.35651335G>A, NC_000019.9:g.36142237G>A, NG_012193.1:g.8083G>A, NM_001863.5:c.92G>A, NM_001863.4:c.92G>A, NP_001854.1:p.Trp31Ter

Select item 127190683819.

rs1271906838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:35651249 (GRCh38)
19:36142151 (GRCh37)
Canonical SPDI:: NC_000019.10:35651248:G:A,NC_000019.10:35651248:G:C
Gene:: COX6B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000028/7 (GnomAD_exomes)
C=0.001369/4 (KOREAN)
HGVS:: NC_000019.10:g.35651249G>A, NC_000019.10:g.35651249G>C, NC_000019.9:g.36142151G>A, NC_000019.9:g.36142151G>C, NG_012193.1:g.7997G>A, NG_012193.1:g.7997G>C, NM_001863.5:c.6G>A, NM_001863.5:c.6G>C, NM_001863.4:c.6G>A, NM_001863.4:c.6G>C

Select item 125933180020.

rs1259331800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:35654597 (GRCh38)
19:36145499 (GRCh37)
Canonical SPDI:: NC_000019.10:35654596:A:G
Gene:: COX6B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.35654597A>G, NC_000019.9:g.36145499A>G, NG_012193.1:g.11345A>G, NM_001863.5:c.133A>G, NM_001863.4:c.133A>G, NP_001854.1:p.Thr45Ala

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