SNP Links for Protein (Select 183979980) - SNP

Links from Protein

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Select item 14890629121.

rs1489062912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:46357843 (GRCh38)
3:46399334 (GRCh37)
Canonical SPDI:: NC_000003.12:46357842:T:A
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.46357843T>A, NC_000003.11:g.46399334T>A, NG_021428.1:g.9100T>A, NM_001123396.4:c.316T>A, NM_001123396.3:c.316T>A, NM_001123396.2:c.316T>A, NM_001123396.1:c.316T>A, NM_001123041.3:c.316T>A, NM_001123041.2:c.316T>A, NM_000647.4:c.316T>A, NM_000647.3:c.316T>A, NM_000648.2:c.316T>A, NM_000647.2:c.316T>A, NM_000647.1:c.316T>A, NM_000648.1:c.316T>A, NP_001116868.1:p.Trp106Arg, NP_001116513.2:p.Trp106Arg

Select item 14864196342.

rs1486419634 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:46357592 (GRCh38)
3:46399083 (GRCh37)
Canonical SPDI:: NC_000003.12:46357591:CC:C
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000003.12:g.46357593del, NC_000003.11:g.46399084del, NG_021428.1:g.8850del, NM_001123396.4:c.66del, NM_001123396.3:c.66del, NM_001123396.2:c.66del, NM_001123396.1:c.66del, NM_001123041.3:c.66del, NM_001123041.2:c.66del, NM_000647.4:c.66del, NM_000647.3:c.66del, NM_000648.2:c.66del, NM_000647.2:c.66del, NM_000647.1:c.66del, NM_000648.1:c.66del, NP_001116868.1:p.Phe24fs, NP_001116513.2:p.Phe24fs

Select item 14857443833.

rs1485744383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46358140 (GRCh38)
3:46399631 (GRCh37)
Canonical SPDI:: NC_000003.12:46358139:A:G
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.46358140A>G, NC_000003.11:g.46399631A>G, NG_021428.1:g.9397A>G, NM_001123396.4:c.613A>G, NM_001123396.3:c.613A>G, NM_001123396.2:c.613A>G, NM_001123396.1:c.613A>G, NM_001123041.3:c.613A>G, NM_001123041.2:c.613A>G, NM_000647.4:c.613A>G, NM_000647.3:c.613A>G, NM_000648.2:c.613A>G, NM_000647.2:c.613A>G, NM_000647.1:c.613A>G, NM_000648.1:c.613A>G, NP_001116868.1:p.Met205Val, NP_001116513.2:p.Met205Val

Select item 14850859334.

rs1485085933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46359735 (GRCh38)
3:46401226 (GRCh37)
Canonical SPDI:: NC_000003.12:46359734:G:A
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46359735G>A, NC_000003.11:g.46401226G>A, NG_021428.1:g.10992G>A, NM_001123396.4:c.*1125G>A, NM_001123396.3:c.*1125G>A, NM_001123396.2:c.*1125G>A, NM_001123041.3:c.1000G>A, NM_001123041.2:c.1000G>A, NM_000647.4:c.1000G>A, NM_000647.3:c.1000G>A, NM_000647.2:c.1000G>A, NM_000647.1:c.1000G>A, NP_001116513.2:p.Gly334Ser

Select item 14847631465.

rs1484763146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:46359860 (GRCh38)
3:46401351 (GRCh37)
Canonical SPDI:: NC_000003.12:46359859:G:A,NC_000003.12:46359859:G:C
Gene:: CCR2 (Varview)
Functional Consequence:: synonymous_variant,stop_lost,terminator_codon_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46359860G>A, NC_000003.12:g.46359860G>C, NC_000003.11:g.46401351G>A, NC_000003.11:g.46401351G>C, NG_021428.1:g.11117G>A, NG_021428.1:g.11117G>C, NM_001123396.4:c.*1250G>A, NM_001123396.4:c.*1250G>C, NM_001123396.3:c.*1250G>A, NM_001123396.3:c.*1250G>C, NM_001123396.2:c.*1250G>A, NM_001123396.2:c.*1250G>C, NM_001123041.3:c.1125G>A, NM_001123041.3:c.1125G>C, NM_001123041.2:c.1125G>A, NM_001123041.2:c.1125G>C, NM_000647.4:c.1125G>A, NM_000647.4:c.1125G>C, NM_000647.3:c.1125G>A, NM_000647.3:c.1125G>C, NM_000647.2:c.1125G>A, NM_000647.2:c.1125G>C, NM_000647.1:c.1125G>A, NM_000647.1:c.1125G>C, NP_001116513.2:p.Ter375Tyr

Select item 14837777556.

rs1483777755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46357703 (GRCh38)
3:46399194 (GRCh37)
Canonical SPDI:: NC_000003.12:46357702:G:A
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46357703G>A, NC_000003.11:g.46399194G>A, NG_021428.1:g.8960G>A, NM_001123396.4:c.176G>A, NM_001123396.3:c.176G>A, NM_001123396.2:c.176G>A, NM_001123396.1:c.176G>A, NM_001123041.3:c.176G>A, NM_001123041.2:c.176G>A, NM_000647.4:c.176G>A, NM_000647.3:c.176G>A, NM_000648.2:c.176G>A, NM_000647.2:c.176G>A, NM_000647.1:c.176G>A, NM_000648.1:c.176G>A, NP_001116868.1:p.Gly59Asp, NP_001116513.2:p.Gly59Asp

Select item 14717412427.

rs1471741242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46357865 (GRCh38)
3:46399356 (GRCh37)
Canonical SPDI:: NC_000003.12:46357864:G:A
Gene:: CCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000003.12:g.46357865G>A, NC_000003.11:g.46399356G>A, NG_021428.1:g.9122G>A, NM_001123396.4:c.338G>A, NM_001123396.3:c.338G>A, NM_001123396.2:c.338G>A, NM_001123396.1:c.338G>A, NM_001123041.3:c.338G>A, NM_001123041.2:c.338G>A, NM_000647.4:c.338G>A, NM_000647.3:c.338G>A, NM_000648.2:c.338G>A, NM_000647.2:c.338G>A, NM_000647.1:c.338G>A, NM_000648.1:c.338G>A, NP_001116868.1:p.Cys113Tyr, NP_001116513.2:p.Cys113Tyr

Select item 14717111658.

rs1471711165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:46358370 (GRCh38)
3:46399861 (GRCh37)
Canonical SPDI:: NC_000003.12:46358369:T:A,NC_000003.12:46358369:T:C
Gene:: CCR2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.46358370T>A, NC_000003.12:g.46358370T>C, NC_000003.11:g.46399861T>A, NC_000003.11:g.46399861T>C, NG_021428.1:g.9627T>A, NG_021428.1:g.9627T>C, NM_001123396.4:c.843T>A, NM_001123396.4:c.843T>C, NM_001123396.3:c.843T>A, NM_001123396.3:c.843T>C, NM_001123396.2:c.843T>A, NM_001123396.2:c.843T>C, NM_001123396.1:c.843T>A, NM_001123396.1:c.843T>C, NM_001123041.3:c.843T>A, NM_001123041.3:c.843T>C, NM_001123041.2:c.843T>A, NM_001123041.2:c.843T>C, NM_000647.4:c.843T>A, NM_000647.4:c.843T>C, NM_000647.3:c.843T>A, NM_000647.3:c.843T>C, NM_000648.2:c.843T>A, NM_000648.2:c.843T>C, NM_000647.2:c.843T>A, NM_000647.2:c.843T>C, NM_000647.1:c.843T>A, NM_000647.1:c.843T>C, NM_000648.1:c.843T>A, NM_000648.1:c.843T>C, NP_001116868.1:p.Ser281Arg, NP_001116513.2:p.Ser281Arg

Select item 14668592139.

rs1466859213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:46357707 (GRCh38)
3:46399198 (GRCh37)
Canonical SPDI:: NC_000003.12:46357706:C:A
Gene:: CCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46357707C>A, NC_000003.11:g.46399198C>A, NG_021428.1:g.8964C>A, NM_001123396.4:c.180C>A, NM_001123396.3:c.180C>A, NM_001123396.2:c.180C>A, NM_001123396.1:c.180C>A, NM_001123041.3:c.180C>A, NM_001123041.2:c.180C>A, NM_000647.4:c.180C>A, NM_000647.3:c.180C>A, NM_000648.2:c.180C>A, NM_000647.2:c.180C>A, NM_000647.1:c.180C>A, NM_000648.1:c.180C>A, NP_001116868.1:p.Asn60Lys, NP_001116513.2:p.Asn60Lys

Select item 146280638010.

rs1462806380 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46359687 (GRCh38)
3:46401178 (GRCh37)
Canonical SPDI:: NC_000003.12:46359686:A:G
Gene:: CCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.46359687A>G, NC_000003.11:g.46401178A>G, NG_021428.1:g.10944A>G, NM_001123396.4:c.*1077A>G, NM_001123396.3:c.*1077A>G, NM_001123396.2:c.*1077A>G, NM_001123041.3:c.952A>G, NM_001123041.2:c.952A>G, NM_000647.4:c.952A>G, NM_000647.3:c.952A>G, NM_000647.2:c.952A>G, NM_000647.1:c.952A>G, NP_001116513.2:p.Ile318Val

Select item 146091443611.

rs1460914436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46359780 (GRCh38)
3:46401271 (GRCh37)
Canonical SPDI:: NC_000003.12:46359779:G:A
Gene:: CCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46359780G>A, NC_000003.11:g.46401271G>A, NG_021428.1:g.11037G>A, NM_001123396.4:c.*1170G>A, NM_001123396.3:c.*1170G>A, NM_001123396.2:c.*1170G>A, NM_001123041.3:c.1045G>A, NM_001123041.2:c.1045G>A, NM_000647.4:c.1045G>A, NM_000647.3:c.1045G>A, NM_000647.2:c.1045G>A, NM_000647.1:c.1045G>A, NP_001116513.2:p.Gly349Arg

Select item 145882000912.

rs1458820009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:46357937 (GRCh38)
3:46399428 (GRCh37)
Canonical SPDI:: NC_000003.12:46357936:A:C
Gene:: CCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46357937A>C, NC_000003.11:g.46399428A>C, NG_021428.1:g.9194A>C, NM_001123396.4:c.410A>C, NM_001123396.3:c.410A>C, NM_001123396.2:c.410A>C, NM_001123396.1:c.410A>C, NM_001123041.3:c.410A>C, NM_001123041.2:c.410A>C, NM_000647.4:c.410A>C, NM_000647.3:c.410A>C, NM_000648.2:c.410A>C, NM_000647.2:c.410A>C, NM_000647.1:c.410A>C, NM_000648.1:c.410A>C, NP_001116868.1:p.Asp137Ala, NP_001116513.2:p.Asp137Ala

Select item 145570930613.

rs1455709306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:46357792 (GRCh38)
3:46399283 (GRCh37)
Canonical SPDI:: NC_000003.12:46357791:C:A
Gene:: CCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.46357792C>A, NC_000003.11:g.46399283C>A, NG_021428.1:g.9049C>A, NM_001123396.4:c.265C>A, NM_001123396.3:c.265C>A, NM_001123396.2:c.265C>A, NM_001123396.1:c.265C>A, NM_001123041.3:c.265C>A, NM_001123041.2:c.265C>A, NM_000647.4:c.265C>A, NM_000647.3:c.265C>A, NM_000648.2:c.265C>A, NM_000647.2:c.265C>A, NM_000647.1:c.265C>A, NM_000648.1:c.265C>A, NP_001116868.1:p.Leu89Met, NP_001116513.2:p.Leu89Met

Select item 145436890314.

rs1454368903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46358224 (GRCh38)
3:46399715 (GRCh37)
Canonical SPDI:: NC_000003.12:46358223:C:T
Gene:: CCR2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.46358224C>T, NC_000003.11:g.46399715C>T, NG_021428.1:g.9481C>T, NM_001123396.4:c.697C>T, NM_001123396.3:c.697C>T, NM_001123396.2:c.697C>T, NM_001123396.1:c.697C>T, NM_001123041.3:c.697C>T, NM_001123041.2:c.697C>T, NM_000647.4:c.697C>T, NM_000647.3:c.697C>T, NM_000648.2:c.697C>T, NM_000647.2:c.697C>T, NM_000647.1:c.697C>T, NM_000648.1:c.697C>T, NP_001116868.1:p.Arg233Ter, NP_001116513.2:p.Arg233Ter

Select item 145120598315.

rs1451205983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:46358029 (GRCh38)
3:46399520 (GRCh37)
Canonical SPDI:: NC_000003.12:46358028:G:T
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46358029G>T, NC_000003.11:g.46399520G>T, NG_021428.1:g.9286G>T, NM_001123396.4:c.502G>T, NM_001123396.3:c.502G>T, NM_001123396.2:c.502G>T, NM_001123396.1:c.502G>T, NM_001123041.3:c.502G>T, NM_001123041.2:c.502G>T, NM_000647.4:c.502G>T, NM_000647.3:c.502G>T, NM_000648.2:c.502G>T, NM_000647.2:c.502G>T, NM_000647.1:c.502G>T, NM_000648.1:c.502G>T, NP_001116868.1:p.Ala168Ser, NP_001116513.2:p.Ala168Ser

Select item 144935633316.

rs1449356333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46357688 (GRCh38)
3:46399179 (GRCh37)
Canonical SPDI:: NC_000003.12:46357687:T:C
Gene:: CCR2 (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=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46357688T>C, NC_000003.11:g.46399179T>C, NG_021428.1:g.8945T>C, NM_001123396.4:c.161T>C, NM_001123396.3:c.161T>C, NM_001123396.2:c.161T>C, NM_001123396.1:c.161T>C, NM_001123041.3:c.161T>C, NM_001123041.2:c.161T>C, NM_000647.4:c.161T>C, NM_000647.3:c.161T>C, NM_000648.2:c.161T>C, NM_000647.2:c.161T>C, NM_000647.1:c.161T>C, NM_000648.1:c.161T>C, NP_001116868.1:p.Ile54Thr, NP_001116513.2:p.Ile54Thr

Select item 144869713417.

rs1448697134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:46357636 (GRCh38)
3:46399127 (GRCh37)
Canonical SPDI:: NC_000003.12:46357635:G:A,NC_000003.12:46357635:G:T
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.46357636G>A, NC_000003.12:g.46357636G>T, NC_000003.11:g.46399127G>A, NC_000003.11:g.46399127G>T, NG_021428.1:g.8893G>A, NG_021428.1:g.8893G>T, NM_001123396.4:c.109G>A, NM_001123396.4:c.109G>T, NM_001123396.3:c.109G>A, NM_001123396.3:c.109G>T, NM_001123396.2:c.109G>A, NM_001123396.2:c.109G>T, NM_001123396.1:c.109G>A, NM_001123396.1:c.109G>T, NM_001123041.3:c.109G>A, NM_001123041.3:c.109G>T, NM_001123041.2:c.109G>A, NM_001123041.2:c.109G>T, NM_000647.4:c.109G>A, NM_000647.4:c.109G>T, NM_000647.3:c.109G>A, NM_000647.3:c.109G>T, NM_000648.2:c.109G>A, NM_000648.2:c.109G>T, NM_000647.2:c.109G>A, NM_000647.2:c.109G>T, NM_000647.1:c.109G>A, NM_000647.1:c.109G>T, NM_000648.1:c.109G>A, NM_000648.1:c.109G>T, NP_001116868.1:p.Val37Met, NP_001116868.1:p.Val37Leu, NP_001116513.2:p.Val37Met, NP_001116513.2:p.Val37Leu

Select item 144046539218.

rs1440465392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46358238 (GRCh38)
3:46399729 (GRCh37)
Canonical SPDI:: NC_000003.12:46358237:G:A
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46358238G>A, NC_000003.11:g.46399729G>A, NG_021428.1:g.9495G>A, NM_001123396.4:c.711G>A, NM_001123396.3:c.711G>A, NM_001123396.2:c.711G>A, NM_001123396.1:c.711G>A, NM_001123041.3:c.711G>A, NM_001123041.2:c.711G>A, NM_000647.4:c.711G>A, NM_000647.3:c.711G>A, NM_000648.2:c.711G>A, NM_000647.2:c.711G>A, NM_000647.1:c.711G>A, NM_000648.1:c.711G>A

Select item 143924295519.

rs1439242955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46358176 (GRCh38)
3:46399667 (GRCh37)
Canonical SPDI:: NC_000003.12:46358175:A:G
Gene:: CCR2 (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)
HGVS:: NC_000003.12:g.46358176A>G, NC_000003.11:g.46399667A>G, NG_021428.1:g.9433A>G, NM_001123396.4:c.649A>G, NM_001123396.3:c.649A>G, NM_001123396.2:c.649A>G, NM_001123396.1:c.649A>G, NM_001123041.3:c.649A>G, NM_001123041.2:c.649A>G, NM_000647.4:c.649A>G, NM_000647.3:c.649A>G, NM_000648.2:c.649A>G, NM_000647.2:c.649A>G, NM_000647.1:c.649A>G, NM_000648.1:c.649A>G, NP_001116868.1:p.Ile217Val, NP_001116513.2:p.Ile217Val

Select item 143490207220.

rs1434902072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:46358323 (GRCh38)
3:46399814 (GRCh37)
Canonical SPDI:: NC_000003.12:46358322:A:C
Gene:: CCR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.46358323A>C, NC_000003.11:g.46399814A>C, NG_021428.1:g.9580A>C, NM_001123396.4:c.796A>C, NM_001123396.3:c.796A>C, NM_001123396.2:c.796A>C, NM_001123396.1:c.796A>C, NM_001123041.3:c.796A>C, NM_001123041.2:c.796A>C, NM_000647.4:c.796A>C, NM_000647.3:c.796A>C, NM_000648.2:c.796A>C, NM_000647.2:c.796A>C, NM_000647.1:c.796A>C, NM_000648.1:c.796A>C, NP_001116868.1:p.Asn266His, NP_001116513.2:p.Asn266His

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