SNP Links for Protein (Select 4758790) - SNP

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Links from Protein

Items: 1 to 20 of 107

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Select item 14803931801.

rs1480393180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39034431 (GRCh38)
1:39500103 (GRCh37)
Canonical SPDI:: NC_000001.11:39034430:C:T
Gene:: NDUFS5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39034431C>T, NC_000001.10:g.39500103C>T, NG_028193.1:g.13137C>T, NM_004552.3:c.256C>T, NM_004552.2:c.256C>T, NM_001184979.2:c.256C>T, NM_001184979.1:c.256C>T

Select item 14794203802.

rs1479420380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:39028751 (GRCh38)
1:39494423 (GRCh37)
Canonical SPDI:: NC_000001.11:39028750:G:A,NC_000001.11:39028750:G:T
Gene:: NDUFS5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.39028751G>A, NC_000001.11:g.39028751G>T, NC_000001.10:g.39494423G>A, NC_000001.10:g.39494423G>T, NG_028193.1:g.7457G>A, NG_028193.1:g.7457G>T, NM_004552.3:c.27G>A, NM_004552.3:c.27G>T, NM_004552.2:c.27G>A, NM_004552.2:c.27G>T, NM_001184979.2:c.27G>A, NM_001184979.2:c.27G>T, NM_001184979.1:c.27G>A, NM_001184979.1:c.27G>T, NP_004543.1:p.Arg9Ser, NP_001171908.1:p.Arg9Ser

Select item 14262021023.

rs1426202102 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAG>- [Show Flanks]
Chromosome:: 1:39034436 (GRCh38)
1:39500108 (GRCh37)
Canonical SPDI:: NC_000001.11:39034435:AAAG:
Gene:: NDUFS5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.39034436_39034439del, NC_000001.10:g.39500108_39500111del, NG_028193.1:g.13142_13145del, NM_004552.3:c.261_264del, NM_004552.2:c.261_264del, NM_001184979.2:c.261_264del, NM_001184979.1:c.261_264del, NP_004543.1:p.Ile87fs, NP_001171908.1:p.Ile87fs

Select item 14161443044.

rs1416144304 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:39028857 (GRCh38)
1:39494529 (GRCh37)
Canonical SPDI:: NC_000001.11:39028856:C:
Gene:: NDUFS5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39028857del, NC_000001.10:g.39494529del, NG_028193.1:g.7563del, NM_004552.3:c.133del, NM_004552.2:c.133del, NM_001184979.2:c.133del, NM_001184979.1:c.133del, NP_004543.1:p.His45fs, NP_001171908.1:p.His45fs

Select item 13801587625.

rs1380158762 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:39028934 (GRCh38)
1:39494607 (GRCh37)
Canonical SPDI:: NC_000001.11:39028934:AAAA:AAAAA
Gene:: NDUFS5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39028938dup, NC_000001.10:g.39494610dup, NG_028193.1:g.7644dup, NM_004552.3:c.214dup, NM_004552.2:c.214dup, NM_001184979.2:c.214dup, NM_001184979.1:c.214dup, NP_004543.1:p.Thr72fs, NP_001171908.1:p.Thr72fs

Select item 13731673136.

rs1373167313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39028739 (GRCh38)
1:39494411 (GRCh37)
Canonical SPDI:: NC_000001.11:39028738:C:T
Gene:: NDUFS5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.39028739C>T, NC_000001.10:g.39494411C>T, NG_028193.1:g.7445C>T, NM_004552.3:c.15C>T, NM_004552.2:c.15C>T, NM_001184979.2:c.15C>T, NM_001184979.1:c.15C>T

Select item 13604771807.

rs1360477180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39028881 (GRCh38)
1:39494553 (GRCh37)
Canonical SPDI:: NC_000001.11:39028880:G:A
Gene:: NDUFS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39028881G>A, NC_000001.10:g.39494553G>A, NG_028193.1:g.7587G>A, NM_004552.3:c.157G>A, NM_004552.2:c.157G>A, NM_001184979.2:c.157G>A, NM_001184979.1:c.157G>A, NP_004543.1:p.Glu53Lys, NP_001171908.1:p.Glu53Lys

Select item 13207238198.

rs1320723819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:39034427 (GRCh38)
1:39500099 (GRCh37)
Canonical SPDI:: NC_000001.11:39034426:T:C
Gene:: NDUFS5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.39034427T>C, NC_000001.10:g.39500099T>C, NG_028193.1:g.13133T>C, NM_004552.3:c.252T>C, NM_004552.2:c.252T>C, NM_001184979.2:c.252T>C, NM_001184979.1:c.252T>C

Select item 13107886899.

rs1310788689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39028862 (GRCh38)
1:39494534 (GRCh37)
Canonical SPDI:: NC_000001.11:39028861:A:G
Gene:: NDUFS5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.39028862A>G, NC_000001.10:g.39494534A>G, NG_028193.1:g.7568A>G, NM_004552.3:c.138A>G, NM_004552.2:c.138A>G, NM_001184979.2:c.138A>G, NM_001184979.1:c.138A>G

Select item 130497023310.

rs1304970233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:39028889 (GRCh38)
1:39494561 (GRCh37)
Canonical SPDI:: NC_000001.11:39028888:G:C
Gene:: NDUFS5 (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)
HGVS:: NC_000001.11:g.39028889G>C, NC_000001.10:g.39494561G>C, NG_028193.1:g.7595G>C, NM_004552.3:c.165G>C, NM_004552.2:c.165G>C, NM_001184979.2:c.165G>C, NM_001184979.1:c.165G>C, NP_004543.1:p.Glu55Asp, NP_001171908.1:p.Glu55Asp

Select item 129301946211.

rs1293019462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:39028774 (GRCh38)
1:39494446 (GRCh37)
Canonical SPDI:: NC_000001.11:39028773:G:C
Gene:: NDUFS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39028774G>C, NC_000001.10:g.39494446G>C, NG_028193.1:g.7480G>C, NM_004552.3:c.50G>C, NM_004552.2:c.50G>C, NM_001184979.2:c.50G>C, NM_001184979.1:c.50G>C, NP_004543.1:p.Trp17Ser, NP_001171908.1:p.Trp17Ser

Select item 129294027212.

rs1292940272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:39028802 (GRCh38)
1:39494474 (GRCh37)
Canonical SPDI:: NC_000001.11:39028801:C:G
Gene:: NDUFS5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39028802C>G, NC_000001.10:g.39494474C>G, NG_028193.1:g.7508C>G, NM_004552.3:c.78C>G, NM_004552.2:c.78C>G, NM_001184979.2:c.78C>G, NM_001184979.1:c.78C>G

Select item 129039294713.

rs1290392947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:39028816 (GRCh38)
1:39494488 (GRCh37)
Canonical SPDI:: NC_000001.11:39028815:G:C
Gene:: NDUFS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39028816G>C, NC_000001.10:g.39494488G>C, NG_028193.1:g.7522G>C, NM_004552.3:c.92G>C, NM_004552.2:c.92G>C, NM_001184979.2:c.92G>C, NM_001184979.1:c.92G>C, NP_004543.1:p.Gly31Ala, NP_001171908.1:p.Gly31Ala

Select item 128657673614.

rs1286576736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:39028907 (GRCh38)
1:39494579 (GRCh37)
Canonical SPDI:: NC_000001.11:39028906:T:C
Gene:: NDUFS5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.39028907T>C, NC_000001.10:g.39494579T>C, NG_028193.1:g.7613T>C, NM_004552.3:c.183T>C, NM_004552.2:c.183T>C, NM_001184979.2:c.183T>C, NM_001184979.1:c.183T>C

Select item 128567066015.

rs1285670660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:39028784 (GRCh38)
1:39494456 (GRCh37)
Canonical SPDI:: NC_000001.11:39028783:C:G
Gene:: NDUFS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39028784C>G, NC_000001.10:g.39494456C>G, NG_028193.1:g.7490C>G, NM_004552.3:c.60C>G, NM_004552.2:c.60C>G, NM_001184979.2:c.60C>G, NM_001184979.1:c.60C>G, NP_004543.1:p.Ile20Met, NP_001171908.1:p.Ile20Met

Select item 127649034416.

rs1276490344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:39034401 (GRCh38)
1:39500073 (GRCh37)
Canonical SPDI:: NC_000001.11:39034400:G:T
Gene:: NDUFS5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39034401G>T, NC_000001.10:g.39500073G>T, NG_028193.1:g.13107G>T, NM_004552.3:c.226G>T, NM_004552.2:c.226G>T, NM_001184979.2:c.226G>T, NM_001184979.1:c.226G>T, NP_004543.1:p.Ala76Ser, NP_001171908.1:p.Ala76Ser

Select item 126160625817.

rs1261606258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39028755 (GRCh38)
1:39494427 (GRCh37)
Canonical SPDI:: NC_000001.11:39028754:G:A
Gene:: NDUFS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.00046/8 (TOMMO)
HGVS:: NC_000001.11:g.39028755G>A, NC_000001.10:g.39494427G>A, NG_028193.1:g.7461G>A, NM_004552.3:c.31G>A, NM_004552.2:c.31G>A, NM_001184979.2:c.31G>A, NM_001184979.1:c.31G>A, NP_004543.1:p.Gly11Ser, NP_001171908.1:p.Gly11Ser

Select item 123896900018.

rs1238969000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39028917 (GRCh38)
1:39494589 (GRCh37)
Canonical SPDI:: NC_000001.11:39028916:G:A
Gene:: NDUFS5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39028917G>A, NC_000001.10:g.39494589G>A, NG_028193.1:g.7623G>A, NM_004552.3:c.193G>A, NM_004552.2:c.193G>A, NM_001184979.2:c.193G>A, NM_001184979.1:c.193G>A, NP_004543.1:p.Glu65Lys, NP_001171908.1:p.Glu65Lys

Select item 123031007819.

rs1230310078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:39034466 (GRCh38)
1:39500138 (GRCh37)
Canonical SPDI:: NC_000001.11:39034465:C:A
Gene:: NDUFS5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39034466C>A, NC_000001.10:g.39500138C>A, NG_028193.1:g.13172C>A, NM_004552.3:c.291C>A, NM_004552.2:c.291C>A, NM_001184979.2:c.291C>A, NM_001184979.1:c.291C>A, NP_004543.1:p.His97Gln, NP_001171908.1:p.His97Gln

Select item 121867872120.

rs1218678721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39028819 (GRCh38)
1:39494491 (GRCh37)
Canonical SPDI:: NC_000001.11:39028818:G:A
Gene:: NDUFS5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39028819G>A, NC_000001.10:g.39494491G>A, NG_028193.1:g.7525G>A, NM_004552.3:c.95G>A, NM_004552.2:c.95G>A, NM_001184979.2:c.95G>A, NM_001184979.1:c.95G>A, NP_004543.1:p.Arg32Gln, NP_001171908.1:p.Arg32Gln

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