SNP Links for Protein (Select 554790347) - SNP

Links from Protein

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Select item 14832771851.

rs1483277185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106293053 (GRCh38)
6:106740928 (GRCh37)
Canonical SPDI:: NC_000006.12:106293052:G:A
Gene:: ATG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106293053G>A, NC_000006.11:g.106740928G>A, NM_004849.4:c.290C>T, NM_004849.3:c.290C>T, NM_004849.2:c.290C>T, NM_001286108.2:c.290C>T, NM_001286108.1:c.290C>T, NM_001286106.2:c.290C>T, NM_001286106.1:c.290C>T, NM_001286107.2:c.56C>T, NM_001286107.1:c.56C>T, XM_024446590.2:c.56C>T, XM_024446590.1:c.56C>T, NR_104402.1:n.348C>T, NR_104403.1:n.220C>T, XM_047419573.1:c.290C>T, NP_004840.1:p.Pro97Leu, NP_001273037.1:p.Pro97Leu, NP_001273035.1:p.Pro97Leu, NP_001273036.1:p.Pro19Leu, XP_024302358.1:p.Pro19Leu, XP_047275529.1:p.Pro97Leu

Select item 14823112462.

rs1482311246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106279798 (GRCh38)
6:106727673 (GRCh37)
Canonical SPDI:: NC_000006.12:106279797:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.106279798T>C, NC_000006.11:g.106727673T>C, NM_004849.4:c.341A>G, NM_004849.3:c.341A>G, NM_004849.2:c.341A>G, NM_001286108.2:c.341A>G, NM_001286108.1:c.341A>G, NM_001286106.2:c.341A>G, NM_001286106.1:c.341A>G, NM_001286107.2:c.107A>G, NM_001286107.1:c.107A>G, XM_024446590.2:c.107A>G, XM_024446590.1:c.107A>G, XM_047419574.1:c.131A>G, NR_104402.1:n.399A>G, NR_104403.1:n.271A>G, XM_047419573.1:c.341A>G, NP_004840.1:p.His114Arg, NP_001273037.1:p.His114Arg, NP_001273035.1:p.His114Arg, NP_001273036.1:p.His36Arg, XP_024302358.1:p.His36Arg, XP_047275530.1:p.His44Arg, XP_047275529.1:p.His114Arg

Select item 14757850203.

rs1475785020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:106201980 (GRCh38)
6:106649855 (GRCh37)
Canonical SPDI:: NC_000006.12:106201979:T:A
Gene:: ATG5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106201980T>A, NC_000006.11:g.106649855T>A, NM_004849.4:c.683A>T, NM_004849.3:c.683A>T, NM_004849.2:c.683A>T, NM_001286108.2:c.*37A>T, NM_001286108.1:c.*37A>T, NM_001286106.2:c.683A>T, NM_001286106.1:c.683A>T, NM_001286107.2:c.449A>T, NM_001286107.1:c.449A>T, XM_024446590.2:c.449A>T, XM_024446590.1:c.449A>T, NM_001286111.2:c.*37A>T, NM_001286111.1:c.*37A>T, XM_047419574.1:c.473A>T, NR_104402.1:n.646A>T, NR_104403.1:n.518A>T, NP_004840.1:p.Asp228Val, NP_001273035.1:p.Asp228Val, NP_001273036.1:p.Asp150Val, XP_024302358.1:p.Asp150Val, XP_047275530.1:p.Asp158Val

Select item 14605101454.

rs1460510145 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGCCACT>- [Show Flanks]
Chromosome:: 6:106186606 (GRCh38)
6:106634481 (GRCh37)
Canonical SPDI:: NC_000006.12:106186601:CACTCAGCCACT:CACT
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,3_prime_UTR_variant,inframe_indel,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106186606_106186613del, NC_000006.11:g.106634481_106634488del, NM_004849.4:c.759_766del, NM_004849.3:c.759_766del, NM_004849.2:c.759_766del, NM_001286108.2:c.*113_*120del, NM_001286108.1:c.*113_*120del, NM_001286106.2:c.759_766del, NM_001286106.1:c.759_766del, NM_001286107.2:c.525_532del, NM_001286107.1:c.525_532del, XM_024446590.2:c.525_532del, XM_024446590.1:c.525_532del, NM_001286111.2:c.*113_*120del, NM_001286111.1:c.*113_*120del, XM_047419574.1:c.549_556del, NR_104402.1:n.722_729del, NR_104403.1:n.594_601del, NP_004840.1:p.Trp253_Glu256delinsTer, NP_001273035.1:p.Trp253_Glu256delinsTer, NP_001273036.1:p.Trp175_Glu178delinsTer, XP_024302358.1:p.Trp175_Glu178delinsTer, XP_047275530.1:p.Trp183_Glu186delinsTer

Select item 14576995825.

rs1457699582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106279780 (GRCh38)
6:106727655 (GRCh37)
Canonical SPDI:: NC_000006.12:106279779:G:A
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000006.12:g.106279780G>A, NC_000006.11:g.106727655G>A, NM_004849.4:c.359C>T, NM_004849.3:c.359C>T, NM_004849.2:c.359C>T, NM_001286108.2:c.359C>T, NM_001286108.1:c.359C>T, NM_001286106.2:c.359C>T, NM_001286106.1:c.359C>T, NM_001286107.2:c.125C>T, NM_001286107.1:c.125C>T, XM_024446590.2:c.125C>T, XM_024446590.1:c.125C>T, XM_047419574.1:c.149C>T, NR_104402.1:n.417C>T, NR_104403.1:n.289C>T, XM_047419573.1:c.359C>T, NP_004840.1:p.Ala120Val, NP_001273037.1:p.Ala120Val, NP_001273035.1:p.Ala120Val, NP_001273036.1:p.Ala42Val, XP_024302358.1:p.Ala42Val, XP_047275530.1:p.Ala50Val, XP_047275529.1:p.Ala120Val

Select item 14571761406.

rs1457176140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:106202081 (GRCh38)
6:106649956 (GRCh37)
Canonical SPDI:: NC_000006.12:106202080:A:C
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.106202081A>C, NC_000006.11:g.106649956A>C, NM_004849.4:c.582T>G, NM_004849.3:c.582T>G, NM_004849.2:c.582T>G, NM_001286108.2:c.578T>G, NM_001286108.1:c.578T>G, NM_001286106.2:c.582T>G, NM_001286106.1:c.582T>G, NM_001286107.2:c.348T>G, NM_001286107.1:c.348T>G, XM_024446590.2:c.348T>G, XM_024446590.1:c.348T>G, NM_001286111.2:c.212T>G, NM_001286111.1:c.212T>G, XM_047419574.1:c.372T>G, NR_104402.1:n.545T>G, NR_104403.1:n.417T>G, NP_001273037.1:p.Leu193Arg, NP_001273040.1:p.Leu71Arg

Select item 14567215647.

rs1456721564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106202068 (GRCh38)
6:106649943 (GRCh37)
Canonical SPDI:: NC_000006.12:106202067:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106202068T>C, NC_000006.11:g.106649943T>C, NM_004849.4:c.595A>G, NM_004849.3:c.595A>G, NM_004849.2:c.595A>G, NM_001286108.2:c.591A>G, NM_001286108.1:c.591A>G, NM_001286106.2:c.595A>G, NM_001286106.1:c.595A>G, NM_001286107.2:c.361A>G, NM_001286107.1:c.361A>G, XM_024446590.2:c.361A>G, XM_024446590.1:c.361A>G, NM_001286111.2:c.225A>G, NM_001286111.1:c.225A>G, XM_047419574.1:c.385A>G, NR_104402.1:n.558A>G, NR_104403.1:n.430A>G, NP_004840.1:p.Ile199Val, NP_001273035.1:p.Ile199Val, NP_001273036.1:p.Ile121Val, XP_024302358.1:p.Ile121Val, XP_047275530.1:p.Ile129Val

Select item 14526479148.

rs1452647914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106202086 (GRCh38)
6:106649961 (GRCh37)
Canonical SPDI:: NC_000006.12:106202085:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.106202086T>C, NC_000006.11:g.106649961T>C, NM_004849.4:c.577A>G, NM_004849.3:c.577A>G, NM_004849.2:c.577A>G, NM_001286108.2:c.573A>G, NM_001286108.1:c.573A>G, NM_001286106.2:c.577A>G, NM_001286106.1:c.577A>G, NM_001286107.2:c.343A>G, NM_001286107.1:c.343A>G, XM_024446590.2:c.343A>G, XM_024446590.1:c.343A>G, NM_001286111.2:c.207A>G, NM_001286111.1:c.207A>G, XM_047419574.1:c.367A>G, NR_104402.1:n.540A>G, NR_104403.1:n.412A>G, NP_004840.1:p.Thr193Ala, NP_001273035.1:p.Thr193Ala, NP_001273036.1:p.Thr115Ala, XP_024302358.1:p.Thr115Ala, XP_047275530.1:p.Thr123Ala

Select item 14470726989.

rs1447072698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106279723 (GRCh38)
6:106727598 (GRCh37)
Canonical SPDI:: NC_000006.12:106279722:C:T
Gene:: ATG5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106279723C>T, NC_000006.11:g.106727598C>T, NM_004849.4:c.416G>A, NM_004849.3:c.416G>A, NM_004849.2:c.416G>A, NM_001286108.2:c.416G>A, NM_001286108.1:c.416G>A, NM_001286106.2:c.416G>A, NM_001286106.1:c.416G>A, NM_001286107.2:c.182G>A, NM_001286107.1:c.182G>A, XM_024446590.2:c.182G>A, XM_024446590.1:c.182G>A, XM_047419574.1:c.206G>A, NR_104402.1:n.474G>A, NR_104403.1:n.346G>A, XM_047419573.1:c.416G>A, NP_004840.1:p.Ser139Asn, NP_001273037.1:p.Ser139Asn, NP_001273035.1:p.Ser139Asn, NP_001273036.1:p.Ser61Asn, XP_024302358.1:p.Ser61Asn, XP_047275530.1:p.Ser69Asn, XP_047275529.1:p.Ser139Asn

Select item 143422904810.

rs1434229048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106248217 (GRCh38)
6:106696092 (GRCh37)
Canonical SPDI:: NC_000006.12:106248216:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.106248217T>C, NC_000006.11:g.106696092T>C, NM_004849.4:c.506A>G, NM_004849.3:c.506A>G, NM_004849.2:c.506A>G, NM_001286108.2:c.502A>G, NM_001286108.1:c.502A>G, NM_001286106.2:c.506A>G, NM_001286106.1:c.506A>G, NM_001286107.2:c.272A>G, NM_001286107.1:c.272A>G, XM_024446590.2:c.272A>G, XM_024446590.1:c.272A>G, NM_001286111.2:c.136A>G, NM_001286111.1:c.136A>G, XM_047419574.1:c.296A>G, XM_047419573.1:c.506A>G, NP_004840.1:p.Asn169Ser, NP_001273037.1:p.Ile168Val, NP_001273035.1:p.Asn169Ser, NP_001273036.1:p.Asn91Ser, XP_024302358.1:p.Asn91Ser, NP_001273040.1:p.Ile46Val, XP_047275530.1:p.Asn99Ser, XP_047275529.1:p.Asn169Ser

Select item 143378260311.

rs1433782603 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 6:106202009 (GRCh38)
6:106649884 (GRCh37)
Canonical SPDI:: NC_000006.12:106202005:GAGGAG:GAG
Gene:: ATG5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106202006GAG[1], NC_000006.11:g.106649881GAG[1], NM_004849.4:c.652CTC[1], NM_004849.3:c.652CTC[1], NM_004849.2:c.652CTC[1], NM_001286108.2:c.*6CTC[1], NM_001286108.1:c.*6CTC[1], NM_001286106.2:c.652CTC[1], NM_001286106.1:c.652CTC[1], NM_001286107.2:c.418CTC[1], NM_001286107.1:c.418CTC[1], XM_024446590.2:c.418CTC[1], XM_024446590.1:c.418CTC[1], NM_001286111.2:c.*6CTC[1], NM_001286111.1:c.*6CTC[1], XM_047419574.1:c.442CTC[1], NR_104402.1:n.615CTC[1], NR_104403.1:n.487CTC[1], NP_004840.1:p.Leu219del, NP_001273035.1:p.Leu219del, NP_001273036.1:p.Leu141del, XP_024302358.1:p.Leu141del, XP_047275530.1:p.Leu149del

Select item 142678524012.

rs1426785240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:106201988 (GRCh38)
6:106649863 (GRCh37)
Canonical SPDI:: NC_000006.12:106201987:A:G
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106201988A>G, NC_000006.11:g.106649863A>G, NM_004849.4:c.675T>C, NM_004849.3:c.675T>C, NM_004849.2:c.675T>C, NM_001286108.2:c.*29T>C, NM_001286108.1:c.*29T>C, NM_001286106.2:c.675T>C, NM_001286106.1:c.675T>C, NM_001286107.2:c.441T>C, NM_001286107.1:c.441T>C, XM_024446590.2:c.441T>C, XM_024446590.1:c.441T>C, NM_001286111.2:c.*29T>C, NM_001286111.1:c.*29T>C, XM_047419574.1:c.465T>C, NR_104402.1:n.638T>C, NR_104403.1:n.510T>C

Select item 141924897213.

rs1419248972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106186654 (GRCh38)
6:106634529 (GRCh37)
Canonical SPDI:: NC_000006.12:106186653:C:T
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.106186654C>T, NC_000006.11:g.106634529C>T, NM_004849.4:c.714G>A, NM_004849.3:c.714G>A, NM_004849.2:c.714G>A, NM_001286108.2:c.*68G>A, NM_001286108.1:c.*68G>A, NM_001286106.2:c.714G>A, NM_001286106.1:c.714G>A, NM_001286107.2:c.480G>A, NM_001286107.1:c.480G>A, XM_024446590.2:c.480G>A, XM_024446590.1:c.480G>A, NM_001286111.2:c.*68G>A, NM_001286111.1:c.*68G>A, XM_047419574.1:c.504G>A, NR_104402.1:n.677G>A, NR_104403.1:n.549G>A

Select item 141402360314.

rs1414023603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106279758 (GRCh38)
6:106727633 (GRCh37)
Canonical SPDI:: NC_000006.12:106279757:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.106279758T>C, NC_000006.11:g.106727633T>C, NM_004849.4:c.381A>G, NM_004849.3:c.381A>G, NM_004849.2:c.381A>G, NM_001286108.2:c.381A>G, NM_001286108.1:c.381A>G, NM_001286106.2:c.381A>G, NM_001286106.1:c.381A>G, NM_001286107.2:c.147A>G, NM_001286107.1:c.147A>G, XM_024446590.2:c.147A>G, XM_024446590.1:c.147A>G, XM_047419574.1:c.171A>G, NR_104402.1:n.439A>G, NR_104403.1:n.311A>G, XM_047419573.1:c.381A>G

Select item 141398655415.

rs1413986554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:106186646 (GRCh38)
6:106634521 (GRCh37)
Canonical SPDI:: NC_000006.12:106186645:T:G
Gene:: ATG5 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106186646T>G, NC_000006.11:g.106634521T>G, NM_004849.4:c.722A>C, NM_004849.3:c.722A>C, NM_004849.2:c.722A>C, NM_001286108.2:c.*76A>C, NM_001286108.1:c.*76A>C, NM_001286106.2:c.722A>C, NM_001286106.1:c.722A>C, NM_001286107.2:c.488A>C, NM_001286107.1:c.488A>C, XM_024446590.2:c.488A>C, XM_024446590.1:c.488A>C, NM_001286111.2:c.*76A>C, NM_001286111.1:c.*76A>C, XM_047419574.1:c.512A>C, NR_104402.1:n.685A>C, NR_104403.1:n.557A>C, NP_004840.1:p.His241Pro, NP_001273035.1:p.His241Pro, NP_001273036.1:p.His163Pro, XP_024302358.1:p.His163Pro, XP_047275530.1:p.His171Pro

Select item 140945128916.

rs1409451289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106186626 (GRCh38)
6:106634501 (GRCh37)
Canonical SPDI:: NC_000006.12:106186625:C:T
Gene:: ATG5 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106186626C>T, NC_000006.11:g.106634501C>T, NM_004849.4:c.742G>A, NM_004849.3:c.742G>A, NM_004849.2:c.742G>A, NM_001286108.2:c.*96G>A, NM_001286108.1:c.*96G>A, NM_001286106.2:c.742G>A, NM_001286106.1:c.742G>A, NM_001286107.2:c.508G>A, NM_001286107.1:c.508G>A, XM_024446590.2:c.508G>A, XM_024446590.1:c.508G>A, NM_001286111.2:c.*96G>A, NM_001286111.1:c.*96G>A, XM_047419574.1:c.532G>A, NR_104402.1:n.705G>A, NR_104403.1:n.577G>A, NP_004840.1:p.Glu248Lys, NP_001273035.1:p.Glu248Lys, NP_001273036.1:p.Glu170Lys, XP_024302358.1:p.Glu170Lys, XP_047275530.1:p.Glu178Lys

Select item 140457555917.

rs1404575559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:106279760 (GRCh38)
6:106727635 (GRCh37)
Canonical SPDI:: NC_000006.12:106279759:A:C,NC_000006.12:106279759:A:G
Gene:: ATG5 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.106279760A>C, NC_000006.12:g.106279760A>G, NC_000006.11:g.106727635A>C, NC_000006.11:g.106727635A>G, NM_004849.4:c.379T>G, NM_004849.4:c.379T>C, NM_004849.3:c.379T>G, NM_004849.3:c.379T>C, NM_004849.2:c.379T>G, NM_004849.2:c.379T>C, NM_001286108.2:c.379T>G, NM_001286108.2:c.379T>C, NM_001286108.1:c.379T>G, NM_001286108.1:c.379T>C, NM_001286106.2:c.379T>G, NM_001286106.2:c.379T>C, NM_001286106.1:c.379T>G, NM_001286106.1:c.379T>C, NM_001286107.2:c.145T>G, NM_001286107.2:c.145T>C, NM_001286107.1:c.145T>G, NM_001286107.1:c.145T>C, XM_024446590.2:c.145T>G, XM_024446590.2:c.145T>C, XM_024446590.1:c.145T>G, XM_024446590.1:c.145T>C, XM_047419574.1:c.169T>G, XM_047419574.1:c.169T>C, NR_104402.1:n.437T>G, NR_104402.1:n.437T>C, NR_104403.1:n.309T>G, NR_104403.1:n.309T>C, XM_047419573.1:c.379T>G, XM_047419573.1:c.379T>C, NP_004840.1:p.Ser127Ala, NP_004840.1:p.Ser127Pro, NP_001273037.1:p.Ser127Ala, NP_001273037.1:p.Ser127Pro, NP_001273035.1:p.Ser127Ala, NP_001273035.1:p.Ser127Pro, NP_001273036.1:p.Ser49Ala, NP_001273036.1:p.Ser49Pro, XP_024302358.1:p.Ser49Ala, XP_024302358.1:p.Ser49Pro, XP_047275530.1:p.Ser57Ala, XP_047275530.1:p.Ser57Pro, XP_047275529.1:p.Ser127Ala, XP_047275529.1:p.Ser127Pro

Select item 139724221718.

rs1397242217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:106186615 (GRCh38)
6:106634490 (GRCh37)
Canonical SPDI:: NC_000006.12:106186614:C:A
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106186615C>A, NC_000006.11:g.106634490C>A, NM_004849.4:c.753G>T, NM_004849.3:c.753G>T, NM_004849.2:c.753G>T, NM_001286108.2:c.*107G>T, NM_001286108.1:c.*107G>T, NM_001286106.2:c.753G>T, NM_001286106.1:c.753G>T, NM_001286107.2:c.519G>T, NM_001286107.1:c.519G>T, XM_024446590.2:c.519G>T, XM_024446590.1:c.519G>T, NM_001286111.2:c.*107G>T, NM_001286111.1:c.*107G>T, XM_047419574.1:c.543G>T, NR_104402.1:n.716G>T, NR_104403.1:n.588G>T

Select item 139332835819.

rs1393328358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106186555 (GRCh38)
6:106634430 (GRCh37)
Canonical SPDI:: NC_000006.12:106186554:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_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.106186555T>C, NC_000006.11:g.106634430T>C, NM_004849.4:c.813A>G, NM_004849.3:c.813A>G, NM_004849.2:c.813A>G, NM_001286108.2:c.*167A>G, NM_001286108.1:c.*167A>G, NM_001286106.2:c.813A>G, NM_001286106.1:c.813A>G, NM_001286107.2:c.579A>G, NM_001286107.1:c.579A>G, XM_024446590.2:c.579A>G, XM_024446590.1:c.579A>G, NM_001286111.2:c.*167A>G, NM_001286111.1:c.*167A>G, XM_047419574.1:c.603A>G, NR_104402.1:n.776A>G, NR_104403.1:n.648A>G

Select item 139282909020.

rs1392829090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:106248195 (GRCh38)
6:106696070 (GRCh37)
Canonical SPDI:: NC_000006.12:106248194:A:G
Gene:: ATG5 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106248195A>G, NC_000006.11:g.106696070A>G, NM_004849.4:c.528T>C, NM_004849.3:c.528T>C, NM_004849.2:c.528T>C, NM_001286108.2:c.524T>C, NM_001286108.1:c.524T>C, NM_001286106.2:c.528T>C, NM_001286106.1:c.528T>C, NM_001286107.2:c.294T>C, NM_001286107.1:c.294T>C, XM_024446590.2:c.294T>C, XM_024446590.1:c.294T>C, NM_001286111.2:c.158T>C, NM_001286111.1:c.158T>C, XM_047419574.1:c.318T>C, XM_047419573.1:c.528T>C, NP_001273037.1:p.Leu175Pro, NP_001273040.1:p.Leu53Pro

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