SNP Links for Protein (Select 767942427) - SNP

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Links from Protein

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Select item 14893553591.

rs1489355359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:108510252 (GRCh38)
6:108831455 (GRCh37)
Canonical SPDI:: NC_000006.12:108510251:T:G
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108510252T>G, NC_000006.11:g.108831455T>G, NM_145315.5:c.1103T>G, NM_145315.4:c.1103T>G, NM_145315.3:c.1103T>G, XM_005266885.4:c.1004T>G, XM_005266885.3:c.1004T>G, XM_005266885.2:c.1004T>G, XM_005266885.1:c.1004T>G, XM_011535657.3:c.1001T>G, XM_011535657.2:c.1001T>G, XM_011535657.1:c.1001T>G, XM_017010648.2:c.674T>G, XM_017010648.1:c.674T>G, NR_136553.2:n.692T>G, NR_136553.1:n.872T>G, XM_047418557.1:c.995T>G, XM_047418558.1:c.674T>G, XM_047418559.1:c.539T>G, NP_660358.2:p.Phe368Cys, XP_005266942.1:p.Phe335Cys, XP_011533959.1:p.Phe334Cys, XP_016866137.1:p.Phe225Cys, XP_047274513.1:p.Phe332Cys, XP_047274514.1:p.Phe225Cys, XP_047274515.1:p.Phe180Cys

Select item 14884793472.

rs1488479347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:108402016 (GRCh38)
6:108723220 (GRCh37)
Canonical SPDI:: NC_000006.12:108402015:C:A
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.108402016C>A, NC_000006.11:g.108723220C>A, NM_145315.5:c.769C>A, NM_145315.4:c.769C>A, NM_145315.3:c.769C>A, XM_005266885.4:c.670C>A, XM_005266885.3:c.670C>A, XM_005266885.2:c.670C>A, XM_005266885.1:c.670C>A, XM_011535659.4:c.769C>A, XM_011535659.3:c.769C>A, XM_011535659.2:c.769C>A, XM_011535659.1:c.769C>A, XM_011535657.3:c.667C>A, XM_011535657.2:c.667C>A, XM_011535657.1:c.667C>A, XM_011535660.3:c.769C>A, XM_011535660.2:c.769C>A, XM_011535660.1:c.769C>A, XM_017010648.2:c.340C>A, XM_017010648.1:c.340C>A, NM_001323005.2:c.769C>A, NM_001323005.1:c.769C>A, XM_047418557.1:c.661C>A, XM_047418558.1:c.340C>A, XM_047418559.1:c.205C>A, XR_007059229.1:n.795C>A, NP_660358.2:p.Gln257Lys, XP_005266942.1:p.Gln224Lys, XP_011533961.1:p.Gln257Lys, XP_011533959.1:p.Gln223Lys, XP_011533962.1:p.Gln257Lys, XP_016866137.1:p.Gln114Lys, NP_001309934.1:p.Gln257Lys, XP_047274513.1:p.Gln221Lys, XP_047274514.1:p.Gln114Lys, XP_047274515.1:p.Gln69Lys

Select item 14877892593.

rs1487789259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108323998 (GRCh38)
6:108645202 (GRCh37)
Canonical SPDI:: NC_000006.12:108323997:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108323998C>T, NC_000006.11:g.108645202C>T, NM_145315.5:c.313C>T, NM_145315.4:c.313C>T, NM_145315.3:c.313C>T, XM_005266885.4:c.214C>T, XM_005266885.3:c.214C>T, XM_005266885.2:c.214C>T, XM_005266885.1:c.214C>T, XM_011535659.4:c.313C>T, XM_011535659.3:c.313C>T, XM_011535659.2:c.313C>T, XM_011535659.1:c.313C>T, XM_011535661.3:c.313C>T, XM_011535661.2:c.313C>T, XM_011535661.1:c.313C>T, XM_011535657.3:c.313C>T, XM_011535657.2:c.313C>T, XM_011535657.1:c.313C>T, XM_011535660.3:c.313C>T, XM_011535660.2:c.313C>T, XM_011535660.1:c.313C>T, NM_001323005.2:c.313C>T, NM_001323005.1:c.313C>T, XM_047418557.1:c.205C>T, XM_047418558.1:c.-65C>T, XM_047418559.1:c.-98C>T, XR_007059229.1:n.339C>T, NP_660358.2:p.His105Tyr, XP_005266942.1:p.His72Tyr, XP_011533961.1:p.His105Tyr, XP_011533963.1:p.His105Tyr, XP_011533959.1:p.His105Tyr, XP_011533962.1:p.His105Tyr, NP_001309934.1:p.His105Tyr, XP_047274513.1:p.His69Tyr

Select item 14877244844.

rs1487724484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:108476927 (GRCh38)
6:108798130 (GRCh37)
Canonical SPDI:: NC_000006.12:108476926:A:G
Gene:: AFG1L (Varview), LOC124901370 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.108476927A>G, NC_000006.11:g.108798130A>G, NM_145315.5:c.953A>G, NM_145315.4:c.953A>G, NM_145315.3:c.953A>G, XM_005266885.4:c.854A>G, XM_005266885.3:c.854A>G, XM_005266885.2:c.854A>G, XM_005266885.1:c.854A>G, XM_011535657.3:c.851A>G, XM_011535657.2:c.851A>G, XM_011535657.1:c.851A>G, XM_017010648.2:c.524A>G, XM_017010648.1:c.524A>G, NM_001323005.2:c.953A>G, NM_001323005.1:c.953A>G, NR_136553.2:n.542A>G, NR_136553.1:n.722A>G, XM_047418557.1:c.845A>G, XM_047418558.1:c.524A>G, XM_047418559.1:c.389A>G, NP_660358.2:p.Gln318Arg, XP_005266942.1:p.Gln285Arg, XP_011533959.1:p.Gln284Arg, XP_016866137.1:p.Gln175Arg, NP_001309934.1:p.Gln318Arg, XP_047274513.1:p.Gln282Arg, XP_047274514.1:p.Gln175Arg, XP_047274515.1:p.Gln130Arg

Select item 14876185265.

rs1487618526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:108519754 (GRCh38)
6:108840957 (GRCh37)
Canonical SPDI:: NC_000006.12:108519753:C:A
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.108519754C>A, NC_000006.11:g.108840957C>A, NM_145315.5:c.1261C>A, NM_145315.4:c.1261C>A, NM_145315.3:c.1261C>A, XM_005266885.4:c.1162C>A, XM_005266885.3:c.1162C>A, XM_005266885.2:c.1162C>A, XM_005266885.1:c.1162C>A, XM_011535657.3:c.1159C>A, XM_011535657.2:c.1159C>A, XM_011535657.1:c.1159C>A, XM_017010648.2:c.832C>A, XM_017010648.1:c.832C>A, NM_001323005.2:c.1120C>A, NM_001323005.1:c.1120C>A, NR_136553.2:n.850C>A, NR_136553.1:n.1030C>A, XM_047418557.1:c.1153C>A, XM_047418558.1:c.832C>A, XM_047418559.1:c.697C>A, NP_660358.2:p.His421Asn, XP_005266942.1:p.His388Asn, XP_011533959.1:p.His387Asn, XP_016866137.1:p.His278Asn, NP_001309934.1:p.His374Asn, XP_047274513.1:p.His385Asn, XP_047274514.1:p.His278Asn, XP_047274515.1:p.His233Asn

Select item 14859461636.

rs1485946163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108295192 (GRCh38)
6:108616396 (GRCh37)
Canonical SPDI:: NC_000006.12:108295191:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108295192C>T, NC_000006.11:g.108616396C>T, NM_145315.5:c.113C>T, NM_145315.4:c.113C>T, NM_145315.3:c.113C>T, XM_011535659.4:c.113C>T, XM_011535659.3:c.113C>T, XM_011535659.2:c.113C>T, XM_011535659.1:c.113C>T, XM_011535661.3:c.113C>T, XM_011535661.2:c.113C>T, XM_011535661.1:c.113C>T, XM_011535657.3:c.113C>T, XM_011535657.2:c.113C>T, XM_011535657.1:c.113C>T, XM_011535660.3:c.113C>T, XM_011535660.2:c.113C>T, XM_011535660.1:c.113C>T, NM_001323005.2:c.113C>T, NM_001323005.1:c.113C>T, NR_136553.2:n.139C>T, NR_136553.1:n.319C>T, XR_007059229.1:n.139C>T, NP_660358.2:p.Thr38Ile, XP_011533961.1:p.Thr38Ile, XP_011533963.1:p.Thr38Ile, XP_011533959.1:p.Thr38Ile, XP_011533962.1:p.Thr38Ile, NP_001309934.1:p.Thr38Ile

Select item 14844733067.

rs1484473306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108323880 (GRCh38)
6:108645084 (GRCh37)
Canonical SPDI:: NC_000006.12:108323879:T:C
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_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_000006.12:g.108323880T>C, NC_000006.11:g.108645084T>C, NM_145315.5:c.195T>C, NM_145315.4:c.195T>C, NM_145315.3:c.195T>C, XM_005266885.4:c.96T>C, XM_005266885.3:c.96T>C, XM_005266885.2:c.96T>C, XM_005266885.1:c.96T>C, XM_011535659.4:c.195T>C, XM_011535659.3:c.195T>C, XM_011535659.2:c.195T>C, XM_011535659.1:c.195T>C, XM_011535661.3:c.195T>C, XM_011535661.2:c.195T>C, XM_011535661.1:c.195T>C, XM_011535657.3:c.195T>C, XM_011535657.2:c.195T>C, XM_011535657.1:c.195T>C, XM_011535660.3:c.195T>C, XM_011535660.2:c.195T>C, XM_011535660.1:c.195T>C, NM_001323005.2:c.195T>C, NM_001323005.1:c.195T>C, XM_047418557.1:c.87T>C, XR_007059229.1:n.221T>C

Select item 14793085838.

rs1479308583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:108447295 (GRCh38)
6:108768498 (GRCh37)
Canonical SPDI:: NC_000006.12:108447294:C:A
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.108447295C>A, NC_000006.11:g.108768498C>A, NM_145315.5:c.889C>A, NM_145315.4:c.889C>A, NM_145315.3:c.889C>A, XM_005266885.4:c.790C>A, XM_005266885.3:c.790C>A, XM_005266885.2:c.790C>A, XM_005266885.1:c.790C>A, XM_011535657.3:c.787C>A, XM_011535657.2:c.787C>A, XM_011535657.1:c.787C>A, XM_017010648.2:c.460C>A, XM_017010648.1:c.460C>A, NM_001323005.2:c.889C>A, NM_001323005.1:c.889C>A, NR_136553.2:n.478C>A, NR_136553.1:n.658C>A, XM_047418557.1:c.781C>A, XM_047418558.1:c.460C>A, XM_047418559.1:c.325C>A, NP_660358.2:p.Leu297Ile, XP_005266942.1:p.Leu264Ile, XP_011533959.1:p.Leu263Ile, XP_016866137.1:p.Leu154Ile, NP_001309934.1:p.Leu297Ile, XP_047274513.1:p.Leu261Ile, XP_047274514.1:p.Leu154Ile, XP_047274515.1:p.Leu109Ile

Select item 14784385429.

rs1478438542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:108477292 (GRCh38)
6:108798495 (GRCh37)
Canonical SPDI:: NC_000006.12:108477291:A:G
Gene:: AFG1L (Varview), LOC124901370 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.108477292A>G, NC_000006.11:g.108798495A>G, NM_145315.5:c.1062A>G, NM_145315.4:c.1062A>G, NM_145315.3:c.1062A>G, XM_005266885.4:c.963A>G, XM_005266885.3:c.963A>G, XM_005266885.2:c.963A>G, XM_005266885.1:c.963A>G, XM_011535657.3:c.960A>G, XM_011535657.2:c.960A>G, XM_011535657.1:c.960A>G, XM_017010648.2:c.633A>G, XM_017010648.1:c.633A>G, NM_001323005.2:c.1062A>G, NM_001323005.1:c.1062A>G, NR_136553.2:n.651A>G, NR_136553.1:n.831A>G, XM_047418557.1:c.954A>G, XM_047418558.1:c.633A>G, XM_047418559.1:c.498A>G

Select item 147838858810.

rs1478388588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:108402033 (GRCh38)
6:108723237 (GRCh37)
Canonical SPDI:: NC_000006.12:108402032:A:G
Gene:: AFG1L (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.108402033A>G, NC_000006.11:g.108723237A>G, NM_145315.5:c.786A>G, NM_145315.4:c.786A>G, NM_145315.3:c.786A>G, XM_005266885.4:c.687A>G, XM_005266885.3:c.687A>G, XM_005266885.2:c.687A>G, XM_005266885.1:c.687A>G, XM_011535659.4:c.786A>G, XM_011535659.3:c.786A>G, XM_011535659.2:c.786A>G, XM_011535659.1:c.786A>G, XM_011535657.3:c.684A>G, XM_011535657.2:c.684A>G, XM_011535657.1:c.684A>G, XM_011535660.3:c.786A>G, XM_011535660.2:c.786A>G, XM_011535660.1:c.786A>G, XM_017010648.2:c.357A>G, XM_017010648.1:c.357A>G, NM_001323005.2:c.786A>G, NM_001323005.1:c.786A>G, XM_047418557.1:c.678A>G, XM_047418558.1:c.357A>G, XM_047418559.1:c.222A>G, XR_007059229.1:n.812A>G

Select item 147784145011.

rs1477841450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108519722 (GRCh38)
6:108840925 (GRCh37)
Canonical SPDI:: NC_000006.12:108519721:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108519722C>T, NC_000006.11:g.108840925C>T, NM_145315.5:c.1229C>T, NM_145315.4:c.1229C>T, NM_145315.3:c.1229C>T, XM_005266885.4:c.1130C>T, XM_005266885.3:c.1130C>T, XM_005266885.2:c.1130C>T, XM_005266885.1:c.1130C>T, XM_011535657.3:c.1127C>T, XM_011535657.2:c.1127C>T, XM_011535657.1:c.1127C>T, XM_017010648.2:c.800C>T, XM_017010648.1:c.800C>T, NM_001323005.2:c.1088C>T, NM_001323005.1:c.1088C>T, NR_136553.2:n.818C>T, NR_136553.1:n.998C>T, XM_047418557.1:c.1121C>T, XM_047418558.1:c.800C>T, XM_047418559.1:c.665C>T, NP_660358.2:p.Thr410Ile, XP_005266942.1:p.Thr377Ile, XP_011533959.1:p.Thr376Ile, XP_016866137.1:p.Thr267Ile, NP_001309934.1:p.Thr363Ile, XP_047274513.1:p.Thr374Ile, XP_047274514.1:p.Thr267Ile, XP_047274515.1:p.Thr222Ile

Select item 147692734912.

rs1476927349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:108477199 (GRCh38)
6:108798402 (GRCh37)
Canonical SPDI:: NC_000006.12:108477198:A:C
Gene:: AFG1L (Varview), LOC124901370 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108477199A>C, NC_000006.11:g.108798402A>C, NM_145315.5:c.969A>C, NM_145315.4:c.969A>C, NM_145315.3:c.969A>C, XM_005266885.4:c.870A>C, XM_005266885.3:c.870A>C, XM_005266885.2:c.870A>C, XM_005266885.1:c.870A>C, XM_011535657.3:c.867A>C, XM_011535657.2:c.867A>C, XM_011535657.1:c.867A>C, XM_017010648.2:c.540A>C, XM_017010648.1:c.540A>C, NM_001323005.2:c.969A>C, NM_001323005.1:c.969A>C, NR_136553.2:n.558A>C, NR_136553.1:n.738A>C, XM_047418557.1:c.861A>C, XM_047418558.1:c.540A>C, XM_047418559.1:c.405A>C, NP_660358.2:p.Arg323Ser, XP_005266942.1:p.Arg290Ser, XP_011533959.1:p.Arg289Ser, XP_016866137.1:p.Arg180Ser, NP_001309934.1:p.Arg323Ser, XP_047274513.1:p.Arg287Ser, XP_047274514.1:p.Arg180Ser, XP_047274515.1:p.Arg135Ser

Select item 147659168413.

rs1476591684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:108476934 (GRCh38)
6:108798137 (GRCh37)
Canonical SPDI:: NC_000006.12:108476933:T:G
Gene:: AFG1L (Varview), LOC124901370 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.108476934T>G, NC_000006.11:g.108798137T>G, NM_145315.5:c.960T>G, NM_145315.4:c.960T>G, NM_145315.3:c.960T>G, XM_005266885.4:c.861T>G, XM_005266885.3:c.861T>G, XM_005266885.2:c.861T>G, XM_005266885.1:c.861T>G, XM_011535657.3:c.858T>G, XM_011535657.2:c.858T>G, XM_011535657.1:c.858T>G, XM_017010648.2:c.531T>G, XM_017010648.1:c.531T>G, NM_001323005.2:c.960T>G, NM_001323005.1:c.960T>G, NR_136553.2:n.549T>G, NR_136553.1:n.729T>G, XM_047418557.1:c.852T>G, XM_047418558.1:c.531T>G, XM_047418559.1:c.396T>G, NP_660358.2:p.Asp320Glu, XP_005266942.1:p.Asp287Glu, XP_011533959.1:p.Asp286Glu, XP_016866137.1:p.Asp177Glu, NP_001309934.1:p.Asp320Glu, XP_047274513.1:p.Asp284Glu, XP_047274514.1:p.Asp177Glu, XP_047274515.1:p.Asp132Glu

Select item 147577903314.

rs1475779033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:108324028 (GRCh38)
6:108645232 (GRCh37)
Canonical SPDI:: NC_000006.12:108324027:G:A
Gene:: AFG1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108324028G>A, NC_000006.11:g.108645232G>A, NM_145315.5:c.343G>A, NM_145315.4:c.343G>A, NM_145315.3:c.343G>A, XM_005266885.4:c.244G>A, XM_005266885.3:c.244G>A, XM_005266885.2:c.244G>A, XM_005266885.1:c.244G>A, XM_011535659.4:c.343G>A, XM_011535659.3:c.343G>A, XM_011535659.2:c.343G>A, XM_011535659.1:c.343G>A, XM_011535661.3:c.343G>A, XM_011535661.2:c.343G>A, XM_011535661.1:c.343G>A, XM_011535657.3:c.343G>A, XM_011535657.2:c.343G>A, XM_011535657.1:c.343G>A, XM_011535660.3:c.343G>A, XM_011535660.2:c.343G>A, XM_011535660.1:c.343G>A, NM_001323005.2:c.343G>A, NM_001323005.1:c.343G>A, XM_047418557.1:c.235G>A, XM_047418558.1:c.-35G>A, XM_047418559.1:c.-68G>A, XR_007059229.1:n.369G>A, NP_660358.2:p.Ala115Thr, XP_005266942.1:p.Ala82Thr, XP_011533961.1:p.Ala115Thr, XP_011533963.1:p.Ala115Thr, XP_011533959.1:p.Ala115Thr, XP_011533962.1:p.Ala115Thr, NP_001309934.1:p.Ala115Thr, XP_047274513.1:p.Ala79Thr

Select item 147522966415.

rs1475229664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:108356737 (GRCh38)
6:108677941 (GRCh37)
Canonical SPDI:: NC_000006.12:108356736:A:T
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,initiator_codon_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108356737A>T, NC_000006.11:g.108677941A>T, NM_145315.5:c.565A>T, NM_145315.4:c.565A>T, NM_145315.3:c.565A>T, XM_005266885.4:c.466A>T, XM_005266885.3:c.466A>T, XM_005266885.2:c.466A>T, XM_005266885.1:c.466A>T, XM_011535659.4:c.565A>T, XM_011535659.3:c.565A>T, XM_011535659.2:c.565A>T, XM_011535659.1:c.565A>T, XM_011535661.3:c.565A>T, XM_011535661.2:c.565A>T, XM_011535661.1:c.565A>T, XM_011535657.3:c.463A>T, XM_011535657.2:c.463A>T, XM_011535657.1:c.463A>T, XM_011535660.3:c.565A>T, XM_011535660.2:c.565A>T, XM_011535660.1:c.565A>T, XM_017010648.2:c.136A>T, XM_017010648.1:c.136A>T, NM_001323005.2:c.565A>T, NM_001323005.1:c.565A>T, NR_136553.2:n.213A>T, NR_136553.1:n.393A>T, XM_047418557.1:c.457A>T, XM_047418558.1:c.136A>T, XM_047418559.1:c.1A>T, XR_007059229.1:n.591A>T, NP_660358.2:p.Met189Leu, XP_005266942.1:p.Met156Leu, XP_011533961.1:p.Met189Leu, XP_011533963.1:p.Met189Leu, XP_011533959.1:p.Met155Leu, XP_011533962.1:p.Met189Leu, XP_016866137.1:p.Met46Leu, NP_001309934.1:p.Met189Leu, XP_047274513.1:p.Met153Leu, XP_047274514.1:p.Met46Leu, XP_047274515.1:p.Met1Leu

Select item 147086268316.

rs1470862683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108324041 (GRCh38)
6:108645245 (GRCh37)
Canonical SPDI:: NC_000006.12:108324040:T:C
Gene:: AFG1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108324041T>C, NC_000006.11:g.108645245T>C, NM_145315.5:c.356T>C, NM_145315.4:c.356T>C, NM_145315.3:c.356T>C, XM_005266885.4:c.257T>C, XM_005266885.3:c.257T>C, XM_005266885.2:c.257T>C, XM_005266885.1:c.257T>C, XM_011535659.4:c.356T>C, XM_011535659.3:c.356T>C, XM_011535659.2:c.356T>C, XM_011535659.1:c.356T>C, XM_011535661.3:c.356T>C, XM_011535661.2:c.356T>C, XM_011535661.1:c.356T>C, XM_011535657.3:c.356T>C, XM_011535657.2:c.356T>C, XM_011535657.1:c.356T>C, XM_011535660.3:c.356T>C, XM_011535660.2:c.356T>C, XM_011535660.1:c.356T>C, NM_001323005.2:c.356T>C, NM_001323005.1:c.356T>C, XM_047418557.1:c.248T>C, XM_047418558.1:c.-22T>C, XM_047418559.1:c.-55T>C, XR_007059229.1:n.382T>C, NP_660358.2:p.Phe119Ser, XP_005266942.1:p.Phe86Ser, XP_011533961.1:p.Phe119Ser, XP_011533963.1:p.Phe119Ser, XP_011533959.1:p.Phe119Ser, XP_011533962.1:p.Phe119Ser, NP_001309934.1:p.Phe119Ser, XP_047274513.1:p.Phe83Ser

Select item 147073069117.

rs1470730691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:108295162 (GRCh38)
6:108616366 (GRCh37)
Canonical SPDI:: NC_000006.12:108295161:C:G
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.108295162C>G, NC_000006.11:g.108616366C>G, NM_145315.5:c.83C>G, NM_145315.4:c.83C>G, NM_145315.3:c.83C>G, XM_011535659.4:c.83C>G, XM_011535659.3:c.83C>G, XM_011535659.2:c.83C>G, XM_011535659.1:c.83C>G, XM_011535661.3:c.83C>G, XM_011535661.2:c.83C>G, XM_011535661.1:c.83C>G, XM_011535657.3:c.83C>G, XM_011535657.2:c.83C>G, XM_011535657.1:c.83C>G, XM_011535660.3:c.83C>G, XM_011535660.2:c.83C>G, XM_011535660.1:c.83C>G, NM_001323005.2:c.83C>G, NM_001323005.1:c.83C>G, NR_136553.2:n.109C>G, NR_136553.1:n.289C>G, XR_007059229.1:n.109C>G, NP_660358.2:p.Ala28Gly, XP_011533961.1:p.Ala28Gly, XP_011533963.1:p.Ala28Gly, XP_011533959.1:p.Ala28Gly, XP_011533962.1:p.Ala28Gly, NP_001309934.1:p.Ala28Gly

Select item 147000546918.

rs1470005469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108356700 (GRCh38)
6:108677904 (GRCh37)
Canonical SPDI:: NC_000006.12:108356699:C:T
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_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_000006.12:g.108356700C>T, NC_000006.11:g.108677904C>T, NM_145315.5:c.528C>T, NM_145315.4:c.528C>T, NM_145315.3:c.528C>T, XM_005266885.4:c.429C>T, XM_005266885.3:c.429C>T, XM_005266885.2:c.429C>T, XM_005266885.1:c.429C>T, XM_011535659.4:c.528C>T, XM_011535659.3:c.528C>T, XM_011535659.2:c.528C>T, XM_011535659.1:c.528C>T, XM_011535661.3:c.528C>T, XM_011535661.2:c.528C>T, XM_011535661.1:c.528C>T, XM_011535657.3:c.426C>T, XM_011535657.2:c.426C>T, XM_011535657.1:c.426C>T, XM_011535660.3:c.528C>T, XM_011535660.2:c.528C>T, XM_011535660.1:c.528C>T, XM_017010648.2:c.99C>T, XM_017010648.1:c.99C>T, NM_001323005.2:c.528C>T, NM_001323005.1:c.528C>T, NR_136553.2:n.176C>T, NR_136553.1:n.356C>T, XM_047418557.1:c.420C>T, XM_047418558.1:c.99C>T, XM_047418559.1:c.-37C>T, XR_007059229.1:n.554C>T

Select item 146630945719.

rs1466309457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:108510235 (GRCh38)
6:108831438 (GRCh37)
Canonical SPDI:: NC_000006.12:108510234:G:A
Gene:: AFG1L (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108510235G>A, NC_000006.11:g.108831438G>A, NM_145315.5:c.1086G>A, NM_145315.4:c.1086G>A, NM_145315.3:c.1086G>A, XM_005266885.4:c.987G>A, XM_005266885.3:c.987G>A, XM_005266885.2:c.987G>A, XM_005266885.1:c.987G>A, XM_011535657.3:c.984G>A, XM_011535657.2:c.984G>A, XM_011535657.1:c.984G>A, XM_017010648.2:c.657G>A, XM_017010648.1:c.657G>A, NR_136553.2:n.675G>A, NR_136553.1:n.855G>A, XM_047418557.1:c.978G>A, XM_047418558.1:c.657G>A, XM_047418559.1:c.522G>A

Select item 146309055420.

rs1463090554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:108356793 (GRCh38)
6:108677997 (GRCh37)
Canonical SPDI:: NC_000006.12:108356792:A:T
Gene:: AFG1L (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108356793A>T, NC_000006.11:g.108677997A>T, NM_145315.5:c.621A>T, NM_145315.4:c.621A>T, NM_145315.3:c.621A>T, XM_005266885.4:c.522A>T, XM_005266885.3:c.522A>T, XM_005266885.2:c.522A>T, XM_005266885.1:c.522A>T, XM_011535659.4:c.621A>T, XM_011535659.3:c.621A>T, XM_011535659.2:c.621A>T, XM_011535659.1:c.621A>T, XM_011535661.3:c.621A>T, XM_011535661.2:c.621A>T, XM_011535661.1:c.621A>T, XM_011535657.3:c.519A>T, XM_011535657.2:c.519A>T, XM_011535657.1:c.519A>T, XM_011535660.3:c.621A>T, XM_011535660.2:c.621A>T, XM_011535660.1:c.621A>T, XM_017010648.2:c.192A>T, XM_017010648.1:c.192A>T, NM_001323005.2:c.621A>T, NM_001323005.1:c.621A>T, NR_136553.2:n.269A>T, NR_136553.1:n.449A>T, XM_047418557.1:c.513A>T, XM_047418558.1:c.192A>T, XM_047418559.1:c.57A>T, XR_007059229.1:n.647A>T

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