SNP Links for Protein (Select 297206729) - SNP

Select item 14904237921.

rs1490423792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:139295055 (GRCh38)
4:140216209 (GRCh37)
Canonical SPDI:: NC_000004.12:139295054:G:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.139295055G>T, NC_000004.11:g.140216209G>T, NM_002494.3:c.159C>A, NM_001184989.2:c.159C>A, NM_001184989.1:c.159C>A, NM_001184986.1:c.159C>A, NM_001184991.1:c.159C>A, NM_001184988.1:c.159C>A, NM_001184987.1:c.159C>A, NM_001184990.1:c.159C>A, NP_002485.1:p.Phe53Leu, NP_001171918.1:p.Phe53Leu, NP_001171915.1:p.Phe53Leu, NP_001171920.1:p.Phe53Leu, NP_001171917.1:p.Phe53Leu, NP_001171916.1:p.Phe53Leu, NP_001171919.1:p.Phe53Leu

Select item 14840167972.

rs1484016797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:139292580 (GRCh38)
4:140213734 (GRCh37)
Canonical SPDI:: NC_000004.12:139292579:T:C
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.139292580T>C, NC_000004.11:g.140213734T>C, NM_002494.3:c.201A>G, NM_001184989.2:c.201A>G, NM_001184989.1:c.201A>G, NM_001184986.1:c.201A>G, NM_001184991.1:c.201A>G, NM_001184988.1:c.201A>G, NM_001184987.1:c.201A>G, NM_001184990.1:c.201A>G

Select item 14633630073.

rs1463363007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:139295776 (GRCh38)
4:140216930 (GRCh37)
Canonical SPDI:: NC_000004.12:139295775:C:A,NC_000004.12:139295775:C:G,NC_000004.12:139295775:C:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.139295776C>A, NC_000004.12:g.139295776C>G, NC_000004.12:g.139295776C>T, NC_000004.11:g.140216930C>A, NC_000004.11:g.140216930C>G, NC_000004.11:g.140216930C>T, NM_002494.3:c.23G>T, NM_002494.3:c.23G>C, NM_002494.3:c.23G>A, NM_001184989.2:c.23G>T, NM_001184989.2:c.23G>C, NM_001184989.2:c.23G>A, NM_001184989.1:c.23G>T, NM_001184989.1:c.23G>C, NM_001184989.1:c.23G>A, NM_001184986.1:c.23G>T, NM_001184986.1:c.23G>C, NM_001184986.1:c.23G>A, NM_001184991.1:c.23G>T, NM_001184991.1:c.23G>C, NM_001184991.1:c.23G>A, NM_001184988.1:c.23G>T, NM_001184988.1:c.23G>C, NM_001184988.1:c.23G>A, NM_001184987.1:c.23G>T, NM_001184987.1:c.23G>C, NM_001184987.1:c.23G>A, NM_001184990.1:c.23G>T, NM_001184990.1:c.23G>C, NM_001184990.1:c.23G>A, NP_002485.1:p.Arg8Leu, NP_002485.1:p.Arg8Pro, NP_002485.1:p.Arg8His, NP_001171918.1:p.Arg8Leu, NP_001171918.1:p.Arg8Pro, NP_001171918.1:p.Arg8His, NP_001171915.1:p.Arg8Leu, NP_001171915.1:p.Arg8Pro, NP_001171915.1:p.Arg8His, NP_001171920.1:p.Arg8Leu, NP_001171920.1:p.Arg8Pro, NP_001171920.1:p.Arg8His, NP_001171917.1:p.Arg8Leu, NP_001171917.1:p.Arg8Pro, NP_001171917.1:p.Arg8His, NP_001171916.1:p.Arg8Leu, NP_001171916.1:p.Arg8Pro, NP_001171916.1:p.Arg8His, NP_001171919.1:p.Arg8Leu, NP_001171919.1:p.Arg8Pro, NP_001171919.1:p.Arg8His

Select item 14574725454.

rs1457472545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:139295126 (GRCh38)
4:140216280 (GRCh37)
Canonical SPDI:: NC_000004.12:139295125:A:G,NC_000004.12:139295125:A:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.139295126A>G, NC_000004.12:g.139295126A>T, NC_000004.11:g.140216280A>G, NC_000004.11:g.140216280A>T, NM_002494.3:c.88T>C, NM_002494.3:c.88T>A, NM_001184989.2:c.88T>C, NM_001184989.2:c.88T>A, NM_001184989.1:c.88T>C, NM_001184989.1:c.88T>A, NM_001184986.1:c.88T>C, NM_001184986.1:c.88T>A, NM_001184991.1:c.88T>C, NM_001184991.1:c.88T>A, NM_001184988.1:c.88T>C, NM_001184988.1:c.88T>A, NM_001184987.1:c.88T>C, NM_001184987.1:c.88T>A, NM_001184990.1:c.88T>C, NM_001184990.1:c.88T>A, NP_002485.1:p.Tyr30His, NP_002485.1:p.Tyr30Asn, NP_001171918.1:p.Tyr30His, NP_001171918.1:p.Tyr30Asn, NP_001171915.1:p.Tyr30His, NP_001171915.1:p.Tyr30Asn, NP_001171920.1:p.Tyr30His, NP_001171920.1:p.Tyr30Asn, NP_001171917.1:p.Tyr30His, NP_001171917.1:p.Tyr30Asn, NP_001171916.1:p.Tyr30His, NP_001171916.1:p.Tyr30Asn, NP_001171919.1:p.Tyr30His, NP_001171919.1:p.Tyr30Asn

Select item 14563167375.

rs1456316737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:139295051 (GRCh38)
4:140216205 (GRCh37)
Canonical SPDI:: NC_000004.12:139295050:A:G
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.139295051A>G, NC_000004.11:g.140216205A>G, NM_002494.3:c.163T>C, NM_001184989.2:c.163T>C, NM_001184989.1:c.163T>C, NM_001184986.1:c.163T>C, NM_001184991.1:c.163T>C, NM_001184988.1:c.163T>C, NM_001184987.1:c.163T>C, NM_001184990.1:c.163T>C, NP_002485.1:p.Trp55Arg, NP_001171918.1:p.Trp55Arg, NP_001171915.1:p.Trp55Arg, NP_001171920.1:p.Trp55Arg, NP_001171917.1:p.Trp55Arg, NP_001171916.1:p.Trp55Arg, NP_001171919.1:p.Trp55Arg

Select item 14475095056.

rs1447509505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:139295741 (GRCh38)
4:140216895 (GRCh37)
Canonical SPDI:: NC_000004.12:139295740:G:A,NC_000004.12:139295740:G:C
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.139295741G>A, NC_000004.12:g.139295741G>C, NC_000004.11:g.140216895G>A, NC_000004.11:g.140216895G>C, NM_002494.3:c.58C>T, NM_002494.3:c.58C>G, NM_001184989.2:c.58C>T, NM_001184989.2:c.58C>G, NM_001184989.1:c.58C>T, NM_001184989.1:c.58C>G, NM_001184986.1:c.58C>T, NM_001184986.1:c.58C>G, NM_001184991.1:c.58C>T, NM_001184991.1:c.58C>G, NM_001184988.1:c.58C>T, NM_001184988.1:c.58C>G, NM_001184987.1:c.58C>T, NM_001184987.1:c.58C>G, NM_001184990.1:c.58C>T, NM_001184990.1:c.58C>G, NP_002485.1:p.Pro20Ser, NP_002485.1:p.Pro20Ala, NP_001171918.1:p.Pro20Ser, NP_001171918.1:p.Pro20Ala, NP_001171915.1:p.Pro20Ser, NP_001171915.1:p.Pro20Ala, NP_001171920.1:p.Pro20Ser, NP_001171920.1:p.Pro20Ala, NP_001171917.1:p.Pro20Ser, NP_001171917.1:p.Pro20Ala, NP_001171916.1:p.Pro20Ser, NP_001171916.1:p.Pro20Ala, NP_001171919.1:p.Pro20Ser, NP_001171919.1:p.Pro20Ala

Select item 14445754137.

rs1444575413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:139295091 (GRCh38)
4:140216245 (GRCh37)
Canonical SPDI:: NC_000004.12:139295090:C:G
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.139295091C>G, NC_000004.11:g.140216245C>G, NM_002494.3:c.123G>C, NM_001184989.2:c.123G>C, NM_001184989.1:c.123G>C, NM_001184986.1:c.123G>C, NM_001184991.1:c.123G>C, NM_001184988.1:c.123G>C, NM_001184987.1:c.123G>C, NM_001184990.1:c.123G>C, NP_002485.1:p.Trp41Cys, NP_001171918.1:p.Trp41Cys, NP_001171915.1:p.Trp41Cys, NP_001171920.1:p.Trp41Cys, NP_001171917.1:p.Trp41Cys, NP_001171916.1:p.Trp41Cys, NP_001171919.1:p.Trp41Cys

Select item 14262190028.

rs1426219002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:139292599 (GRCh38)
4:140213753 (GRCh37)
Canonical SPDI:: NC_000004.12:139292598:T:C
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.139292599T>C, NC_000004.11:g.140213753T>C, NM_002494.3:c.182A>G, NM_001184989.2:c.182A>G, NM_001184989.1:c.182A>G, NM_001184986.1:c.182A>G, NM_001184991.1:c.182A>G, NM_001184988.1:c.182A>G, NM_001184987.1:c.182A>G, NM_001184990.1:c.182A>G, NP_002485.1:p.Gln61Arg, NP_001171918.1:p.Gln61Arg, NP_001171915.1:p.Gln61Arg, NP_001171920.1:p.Gln61Arg, NP_001171917.1:p.Gln61Arg, NP_001171916.1:p.Gln61Arg, NP_001171919.1:p.Gln61Arg

Select item 13930929179.

rs1393092917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:139295749 (GRCh38)
4:140216903 (GRCh37)
Canonical SPDI:: NC_000004.12:139295748:G:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.139295749G>T, NC_000004.11:g.140216903G>T, NM_002494.3:c.50C>A, NM_001184989.2:c.50C>A, NM_001184989.1:c.50C>A, NM_001184986.1:c.50C>A, NM_001184991.1:c.50C>A, NM_001184988.1:c.50C>A, NM_001184987.1:c.50C>A, NM_001184990.1:c.50C>A, NP_002485.1:p.Ala17Asp, NP_001171918.1:p.Ala17Asp, NP_001171915.1:p.Ala17Asp, NP_001171920.1:p.Ala17Asp, NP_001171917.1:p.Ala17Asp, NP_001171916.1:p.Ala17Asp, NP_001171919.1:p.Ala17Asp

Select item 139076989110.

rs1390769891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:139295744 (GRCh38)
4:140216898 (GRCh37)
Canonical SPDI:: NC_000004.12:139295743:G:A
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.139295744G>A, NC_000004.11:g.140216898G>A, NM_002494.3:c.55C>T, NM_001184989.2:c.55C>T, NM_001184989.1:c.55C>T, NM_001184986.1:c.55C>T, NM_001184991.1:c.55C>T, NM_001184988.1:c.55C>T, NM_001184987.1:c.55C>T, NM_001184990.1:c.55C>T, NP_002485.1:p.Leu19Phe, NP_001171918.1:p.Leu19Phe, NP_001171915.1:p.Leu19Phe, NP_001171920.1:p.Leu19Phe, NP_001171917.1:p.Leu19Phe, NP_001171916.1:p.Leu19Phe, NP_001171919.1:p.Leu19Phe

Select item 139045721211.

rs1390457212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:139295054 (GRCh38)
4:140216208 (GRCh37)
Canonical SPDI:: NC_000004.12:139295053:A:G,NC_000004.12:139295053:A:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.139295054A>G, NC_000004.12:g.139295054A>T, NC_000004.11:g.140216208A>G, NC_000004.11:g.140216208A>T, NM_002494.3:c.160T>C, NM_002494.3:c.160T>A, NM_001184989.2:c.160T>C, NM_001184989.2:c.160T>A, NM_001184989.1:c.160T>C, NM_001184989.1:c.160T>A, NM_001184986.1:c.160T>C, NM_001184986.1:c.160T>A, NM_001184991.1:c.160T>C, NM_001184991.1:c.160T>A, NM_001184988.1:c.160T>C, NM_001184988.1:c.160T>A, NM_001184987.1:c.160T>C, NM_001184987.1:c.160T>A, NM_001184990.1:c.160T>C, NM_001184990.1:c.160T>A, NP_002485.1:p.Leu54Met, NP_001171918.1:p.Leu54Met, NP_001171915.1:p.Leu54Met, NP_001171920.1:p.Leu54Met, NP_001171917.1:p.Leu54Met, NP_001171916.1:p.Leu54Met, NP_001171919.1:p.Leu54Met

Select item 138758637312.

rs1387586373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:139295753 (GRCh38)
4:140216907 (GRCh37)
Canonical SPDI:: NC_000004.12:139295752:G:C,NC_000004.12:139295752:G:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.139295753G>C, NC_000004.12:g.139295753G>T, NC_000004.11:g.140216907G>C, NC_000004.11:g.140216907G>T, NM_002494.3:c.46C>G, NM_002494.3:c.46C>A, NM_001184989.2:c.46C>G, NM_001184989.2:c.46C>A, NM_001184989.1:c.46C>G, NM_001184989.1:c.46C>A, NM_001184986.1:c.46C>G, NM_001184986.1:c.46C>A, NM_001184991.1:c.46C>G, NM_001184991.1:c.46C>A, NM_001184988.1:c.46C>G, NM_001184988.1:c.46C>A, NM_001184987.1:c.46C>G, NM_001184987.1:c.46C>A, NM_001184990.1:c.46C>G, NM_001184990.1:c.46C>A, NP_002485.1:p.Pro16Ala, NP_002485.1:p.Pro16Thr, NP_001171918.1:p.Pro16Ala, NP_001171918.1:p.Pro16Thr, NP_001171915.1:p.Pro16Ala, NP_001171915.1:p.Pro16Thr, NP_001171920.1:p.Pro16Ala, NP_001171920.1:p.Pro16Thr, NP_001171917.1:p.Pro16Ala, NP_001171917.1:p.Pro16Thr, NP_001171916.1:p.Pro16Ala, NP_001171916.1:p.Pro16Thr, NP_001171919.1:p.Pro16Ala, NP_001171919.1:p.Pro16Thr

Select item 137291742513.

rs1372917425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:139292605 (GRCh38)
4:140213759 (GRCh37)
Canonical SPDI:: NC_000004.12:139292604:A:G
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.139292605A>G, NC_000004.11:g.140213759A>G, NM_002494.3:c.176T>C, NM_001184989.2:c.176T>C, NM_001184989.1:c.176T>C, NM_001184986.1:c.176T>C, NM_001184991.1:c.176T>C, NM_001184988.1:c.176T>C, NM_001184987.1:c.176T>C, NM_001184990.1:c.176T>C, NP_002485.1:p.Ile59Thr, NP_001171918.1:p.Ile59Thr, NP_001171915.1:p.Ile59Thr, NP_001171920.1:p.Ile59Thr, NP_001171917.1:p.Ile59Thr, NP_001171916.1:p.Ile59Thr, NP_001171919.1:p.Ile59Thr

Select item 135919254614.

rs1359192546 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 4:139295790 (GRCh38)
4:140216945 (GRCh37)
Canonical SPDI:: NC_000004.12:139295790:GG:GGGG
Gene:: NDUFC1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
HGVS:: NC_000004.12:g.139295791_139295792dup, NC_000004.11:g.140216945_140216946dup, NM_002494.3:c.7_8dup, NM_001184989.2:c.7_8dup, NM_001184989.1:c.7_8dup, NM_001184986.1:c.7_8dup, NM_001184991.1:c.7_8dup, NM_001184988.1:c.7_8dup, NM_001184987.1:c.7_8dup, NM_001184990.1:c.7_8dup, NP_002485.1:p.Ser4fs, NP_001171918.1:p.Ser4fs, NP_001171915.1:p.Ser4fs, NP_001171920.1:p.Ser4fs, NP_001171917.1:p.Ser4fs, NP_001171916.1:p.Ser4fs, NP_001171919.1:p.Ser4fs

Select item 133858894015.

rs1338588940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:139295065 (GRCh38)
4:140216219 (GRCh37)
Canonical SPDI:: NC_000004.12:139295064:G:A,NC_000004.12:139295064:G:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.139295065G>A, NC_000004.12:g.139295065G>T, NC_000004.11:g.140216219G>A, NC_000004.11:g.140216219G>T, NM_002494.3:c.149C>T, NM_002494.3:c.149C>A, NM_001184989.2:c.149C>T, NM_001184989.2:c.149C>A, NM_001184989.1:c.149C>T, NM_001184989.1:c.149C>A, NM_001184986.1:c.149C>T, NM_001184986.1:c.149C>A, NM_001184991.1:c.149C>T, NM_001184991.1:c.149C>A, NM_001184988.1:c.149C>T, NM_001184988.1:c.149C>A, NM_001184987.1:c.149C>T, NM_001184987.1:c.149C>A, NM_001184990.1:c.149C>T, NM_001184990.1:c.149C>A, NP_002485.1:p.Thr50Ile, NP_002485.1:p.Thr50Asn, NP_001171918.1:p.Thr50Ile, NP_001171918.1:p.Thr50Asn, NP_001171915.1:p.Thr50Ile, NP_001171915.1:p.Thr50Asn, NP_001171920.1:p.Thr50Ile, NP_001171920.1:p.Thr50Asn, NP_001171917.1:p.Thr50Ile, NP_001171917.1:p.Thr50Asn, NP_001171916.1:p.Thr50Ile, NP_001171916.1:p.Thr50Asn, NP_001171919.1:p.Thr50Ile, NP_001171919.1:p.Thr50Asn

Select item 133013938116.

rs1330139381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:139295088 (GRCh38)
4:140216242 (GRCh37)
Canonical SPDI:: NC_000004.12:139295087:C:G,NC_000004.12:139295087:C:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.139295088C>G, NC_000004.12:g.139295088C>T, NC_000004.11:g.140216242C>G, NC_000004.11:g.140216242C>T, NM_002494.3:c.126G>C, NM_002494.3:c.126G>A, NM_001184989.2:c.126G>C, NM_001184989.2:c.126G>A, NM_001184989.1:c.126G>C, NM_001184989.1:c.126G>A, NM_001184986.1:c.126G>C, NM_001184986.1:c.126G>A, NM_001184991.1:c.126G>C, NM_001184991.1:c.126G>A, NM_001184988.1:c.126G>C, NM_001184988.1:c.126G>A, NM_001184987.1:c.126G>C, NM_001184987.1:c.126G>A, NM_001184990.1:c.126G>C, NM_001184990.1:c.126G>A

Select item 132170052717.

rs1321700527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:139295764 (GRCh38)
4:140216918 (GRCh37)
Canonical SPDI:: NC_000004.12:139295763:C:T
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000044/7 (GnomAD_exomes)
HGVS:: NC_000004.12:g.139295764C>T, NC_000004.11:g.140216918C>T, NM_002494.3:c.35G>A, NM_001184989.2:c.35G>A, NM_001184989.1:c.35G>A, NM_001184986.1:c.35G>A, NM_001184991.1:c.35G>A, NM_001184988.1:c.35G>A, NM_001184987.1:c.35G>A, NM_001184990.1:c.35G>A, NP_002485.1:p.Arg12Gln, NP_001171918.1:p.Arg12Gln, NP_001171915.1:p.Arg12Gln, NP_001171920.1:p.Arg12Gln, NP_001171917.1:p.Arg12Gln, NP_001171916.1:p.Arg12Gln, NP_001171919.1:p.Arg12Gln

Select item 131256467118.

rs1312564671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:139292573 (GRCh38)
4:140213727 (GRCh37)
Canonical SPDI:: NC_000004.12:139292572:T:C,NC_000004.12:139292572:T:G
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.139292573T>C, NC_000004.12:g.139292573T>G, NC_000004.11:g.140213727T>C, NC_000004.11:g.140213727T>G, NM_002494.3:c.208A>G, NM_002494.3:c.208A>C, NM_001184989.2:c.208A>G, NM_001184989.2:c.208A>C, NM_001184989.1:c.208A>G, NM_001184989.1:c.208A>C, NM_001184986.1:c.208A>G, NM_001184986.1:c.208A>C, NM_001184991.1:c.208A>G, NM_001184991.1:c.208A>C, NM_001184988.1:c.208A>G, NM_001184988.1:c.208A>C, NM_001184987.1:c.208A>G, NM_001184987.1:c.208A>C, NM_001184990.1:c.208A>G, NM_001184990.1:c.208A>C, NP_002485.1:p.Lys70Glu, NP_002485.1:p.Lys70Gln, NP_001171918.1:p.Lys70Glu, NP_001171918.1:p.Lys70Gln, NP_001171915.1:p.Lys70Glu, NP_001171915.1:p.Lys70Gln, NP_001171920.1:p.Lys70Glu, NP_001171920.1:p.Lys70Gln, NP_001171917.1:p.Lys70Glu, NP_001171917.1:p.Lys70Gln, NP_001171916.1:p.Lys70Glu, NP_001171916.1:p.Lys70Gln, NP_001171919.1:p.Lys70Glu, NP_001171919.1:p.Lys70Gln

Select item 130055742819.

rs1300557428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:139292569 (GRCh38)
4:140213723 (GRCh37)
Canonical SPDI:: NC_000004.12:139292568:C:A
Gene:: NDUFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.139292569C>A, NC_000004.11:g.140213723C>A, NM_002494.3:c.212G>T, NM_001184989.2:c.212G>T, NM_001184989.1:c.212G>T, NM_001184986.1:c.212G>T, NM_001184991.1:c.212G>T, NM_001184988.1:c.212G>T, NM_001184987.1:c.212G>T, NM_001184990.1:c.212G>T, NP_002485.1:p.Arg71Ile, NP_001171918.1:p.Arg71Ile, NP_001171915.1:p.Arg71Ile, NP_001171920.1:p.Arg71Ile, NP_001171917.1:p.Arg71Ile, NP_001171916.1:p.Arg71Ile, NP_001171919.1:p.Arg71Ile

Select item 129897981720.

rs1298979817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:139295763 (GRCh38)
4:140216917 (GRCh37)
Canonical SPDI:: NC_000004.12:139295762:C:A
Gene:: NDUFC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.139295763C>A, NC_000004.11:g.140216917C>A, NM_002494.3:c.36G>T, NM_001184989.2:c.36G>T, NM_001184989.1:c.36G>T, NM_001184986.1:c.36G>T, NM_001184991.1:c.36G>T, NM_001184988.1:c.36G>T, NM_001184987.1:c.36G>T, NM_001184990.1:c.36G>T

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Items: 1 to 20 of 86

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