SNP Links for Protein (Select 1171342320) - SNP

Links from Protein

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Select item 14897278201.

rs1489727820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:13091158 (GRCh38)
20:13071806 (GRCh37)
Canonical SPDI:: NC_000020.11:13091157:G:A
Gene:: SPTLC3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.13091158G>A, NC_000020.10:g.13071806G>A, NG_053155.1:g.87180G>A, NM_018327.4:c.683G>A, NM_018327.3:c.683G>A, NM_018327.2:c.683G>A, NM_001349945.2:c.683G>A, NM_001349945.1:c.683G>A, XM_011529280.2:c.110G>A, XM_011529280.1:c.110G>A, XM_011529279.2:c.683G>A, XM_011529279.1:c.683G>A, XM_047440255.1:c.683G>A, XM_047440256.1:c.683G>A, NP_060797.2:p.Gly228Glu, NP_001336874.1:p.Gly228Glu, XP_011527582.1:p.Gly37Glu, XP_011527581.1:p.Gly228Glu, XP_047296211.1:p.Gly228Glu, XP_047296212.1:p.Gly228Glu

Select item 14817261772.

rs1481726177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:13117592 (GRCh38)
20:13098239 (GRCh37)
Canonical SPDI:: NC_000020.11:13117591:G:A
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.13117592G>A, NC_000020.10:g.13098239G>A, NG_053155.1:g.113614G>A, NM_018327.4:c.1019G>A, NM_018327.3:c.1019G>A, NM_018327.2:c.1019G>A, NM_001349945.2:c.1019G>A, NM_001349945.1:c.1019G>A, XM_011529280.2:c.446G>A, XM_011529280.1:c.446G>A, XM_011529279.2:c.1019G>A, XM_011529279.1:c.1019G>A, XM_047440255.1:c.1019G>A, NP_060797.2:p.Ser340Asn, NP_001336874.1:p.Ser340Asn, XP_011527582.1:p.Ser149Asn, XP_011527581.1:p.Ser340Asn, XP_047296211.1:p.Ser340Asn

Select item 14810063803.

rs1481006380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:13117575 (GRCh38)
20:13098222 (GRCh37)
Canonical SPDI:: NC_000020.11:13117574:C:T
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13117575C>T, NC_000020.10:g.13098222C>T, NG_053155.1:g.113597C>T, NM_018327.4:c.1002C>T, NM_018327.3:c.1002C>T, NM_018327.2:c.1002C>T, NM_001349945.2:c.1002C>T, NM_001349945.1:c.1002C>T, XM_011529280.2:c.429C>T, XM_011529280.1:c.429C>T, XM_011529279.2:c.1002C>T, XM_011529279.1:c.1002C>T, XM_047440255.1:c.1002C>T

Select item 14795195234.

rs1479519523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:13048962 (GRCh38)
20:13029610 (GRCh37)
Canonical SPDI:: NC_000020.11:13048961:T:G
Gene:: SPTLC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.13048962T>G, NC_000020.10:g.13029610T>G, NG_053155.1:g.44984T>G, NM_018327.4:c.135T>G, NM_018327.3:c.135T>G, NM_018327.2:c.135T>G, NM_001349945.2:c.135T>G, NM_001349945.1:c.135T>G, XM_011529279.2:c.135T>G, XM_011529279.1:c.135T>G, XM_047440255.1:c.135T>G, XM_047440256.1:c.135T>G, NP_060797.2:p.His45Gln, NP_001336874.1:p.His45Gln, XP_011527581.1:p.His45Gln, XP_047296211.1:p.His45Gln, XP_047296212.1:p.His45Gln

Select item 14770999145.

rs1477099914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:13154087 (GRCh38)
20:13134734 (GRCh37)
Canonical SPDI:: NC_000020.11:13154086:A:G
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13154087A>G, NC_000020.10:g.13134734A>G, NG_053155.1:g.150109A>G, NM_018327.4:c.1364A>G, NM_018327.3:c.1364A>G, NM_018327.2:c.1364A>G, NM_001349945.2:c.1364A>G, NM_001349945.1:c.1364A>G, XM_011529280.2:c.791A>G, XM_011529280.1:c.791A>G, XM_011529279.2:c.1364A>G, XM_011529279.1:c.1364A>G, XM_047440255.1:c.1364A>G, NP_060797.2:p.Asn455Ser, NP_001336874.1:p.Asn455Ser, XP_011527582.1:p.Asn264Ser, XP_011527581.1:p.Asn455Ser, XP_047296211.1:p.Asn455Ser

Select item 14758780276.

rs1475878027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:13009370 (GRCh38)
20:12990018 (GRCh37)
Canonical SPDI:: NC_000020.11:13009369:G:A
Gene:: SPTLC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.13009370G>A, NC_000020.10:g.12990018G>A, NG_053155.1:g.5392G>A, NM_018327.4:c.103G>A, NM_018327.3:c.103G>A, NM_018327.2:c.103G>A, NM_001349945.2:c.103G>A, NM_001349945.1:c.103G>A, XM_011529279.2:c.103G>A, XM_011529279.1:c.103G>A, XM_047440255.1:c.103G>A, XM_047440256.1:c.103G>A, NP_060797.2:p.Val35Met, NP_001336874.1:p.Val35Met, XP_011527581.1:p.Val35Met, XP_047296211.1:p.Val35Met, XP_047296212.1:p.Val35Met

Select item 14737208007.

rs1473720800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:13110214 (GRCh38)
20:13090861 (GRCh37)
Canonical SPDI:: NC_000020.11:13110213:A:G
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.13110214A>G, NC_000020.10:g.13090861A>G, NG_053155.1:g.106236A>G, NM_018327.4:c.929A>G, NM_018327.3:c.929A>G, NM_018327.2:c.929A>G, NM_001349945.2:c.929A>G, NM_001349945.1:c.929A>G, XM_011529280.2:c.356A>G, XM_011529280.1:c.356A>G, XM_011529279.2:c.929A>G, XM_011529279.1:c.929A>G, XM_047440255.1:c.929A>G, XM_047440256.1:c.929A>G, NP_060797.2:p.Tyr310Cys, NP_001336874.1:p.Tyr310Cys, XP_011527582.1:p.Tyr119Cys, XP_011527581.1:p.Tyr310Cys, XP_047296211.1:p.Tyr310Cys, XP_047296212.1:p.Tyr310Cys

Select item 14718133278.

rs1471813327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:13164815 (GRCh38)
20:13145462 (GRCh37)
Canonical SPDI:: NC_000020.11:13164814:A:T
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
HGVS:: NC_000020.11:g.13164815A>T, NC_000020.10:g.13145462A>T, NG_053155.1:g.160837A>T, NM_018327.4:c.1607A>T, NM_018327.3:c.1607A>T, NM_018327.2:c.1607A>T, NM_001349945.2:c.1607A>T, NM_001349945.1:c.1607A>T, XM_011529280.2:c.1034A>T, XM_011529280.1:c.1034A>T, NP_060797.2:p.Lys536Met, NP_001336874.1:p.Lys536Met, XP_011527582.1:p.Lys345Met

Select item 14716965399.

rs1471696539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:13117652 (GRCh38)
20:13098299 (GRCh37)
Canonical SPDI:: NC_000020.11:13117651:A:T
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000020.11:g.13117652A>T, NC_000020.10:g.13098299A>T, NG_053155.1:g.113674A>T, NM_018327.4:c.1079A>T, NM_018327.3:c.1079A>T, NM_018327.2:c.1079A>T, NM_001349945.2:c.1079A>T, NM_001349945.1:c.1079A>T, XM_011529280.2:c.506A>T, XM_011529280.1:c.506A>T, XM_011529279.2:c.1079A>T, XM_011529279.1:c.1079A>T, XM_047440255.1:c.1079A>T, NP_060797.2:p.His360Leu, NP_001336874.1:p.His360Leu, XP_011527582.1:p.His169Leu, XP_011527581.1:p.His360Leu, XP_047296211.1:p.His360Leu

Select item 146779964810.

rs1467799648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:13164772 (GRCh38)
20:13145419 (GRCh37)
Canonical SPDI:: NC_000020.11:13164771:G:T
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13164772G>T, NC_000020.10:g.13145419G>T, NG_053155.1:g.160794G>T, NM_018327.4:c.1564G>T, NM_018327.3:c.1564G>T, NM_018327.2:c.1564G>T, NM_001349945.2:c.1564G>T, NM_001349945.1:c.1564G>T, XM_011529280.2:c.991G>T, XM_011529280.1:c.991G>T, NP_060797.2:p.Glu522Ter, NP_001336874.1:p.Glu522Ter, XP_011527582.1:p.Glu331Ter

Select item 146668345111.

rs1466683451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:13009285 (GRCh38)
20:12989933 (GRCh37)
Canonical SPDI:: NC_000020.11:13009284:T:C
Gene:: SPTLC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13009285T>C, NC_000020.10:g.12989933T>C, NG_053155.1:g.5307T>C, NM_018327.4:c.18T>C, NM_018327.3:c.18T>C, NM_018327.2:c.18T>C, NM_001349945.2:c.18T>C, NM_001349945.1:c.18T>C, XM_011529279.2:c.18T>C, XM_011529279.1:c.18T>C, XM_047440255.1:c.18T>C, XM_047440256.1:c.18T>C

Select item 146318829212.

rs1463188292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:13117531 (GRCh38)
20:13098178 (GRCh37)
Canonical SPDI:: NC_000020.11:13117530:C:T
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.13117531C>T, NC_000020.10:g.13098178C>T, NG_053155.1:g.113553C>T, NM_018327.4:c.958C>T, NM_018327.3:c.958C>T, NM_018327.2:c.958C>T, NM_001349945.2:c.958C>T, NM_001349945.1:c.958C>T, XM_011529280.2:c.385C>T, XM_011529280.1:c.385C>T, XM_011529279.2:c.958C>T, XM_011529279.1:c.958C>T, XM_047440255.1:c.958C>T, NP_060797.2:p.Pro320Ser, NP_001336874.1:p.Pro320Ser, XP_011527582.1:p.Pro129Ser, XP_011527581.1:p.Pro320Ser, XP_047296211.1:p.Pro320Ser

Select item 146153096713.

rs1461530967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:13164840 (GRCh38)
20:13145487 (GRCh37)
Canonical SPDI:: NC_000020.11:13164839:T:A,NC_000020.11:13164839:T:C,NC_000020.11:13164839:T:G
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.13164840T>A, NC_000020.11:g.13164840T>C, NC_000020.11:g.13164840T>G, NC_000020.10:g.13145487T>A, NC_000020.10:g.13145487T>C, NC_000020.10:g.13145487T>G, NG_053155.1:g.160862T>A, NG_053155.1:g.160862T>C, NG_053155.1:g.160862T>G, NM_018327.4:c.1632T>A, NM_018327.4:c.1632T>C, NM_018327.4:c.1632T>G, NM_018327.3:c.1632T>A, NM_018327.3:c.1632T>C, NM_018327.3:c.1632T>G, NM_018327.2:c.1632T>A, NM_018327.2:c.1632T>C, NM_018327.2:c.1632T>G, NM_001349945.2:c.1632T>A, NM_001349945.2:c.1632T>C, NM_001349945.2:c.1632T>G, NM_001349945.1:c.1632T>A, NM_001349945.1:c.1632T>C, NM_001349945.1:c.1632T>G, XM_011529280.2:c.1059T>A, XM_011529280.2:c.1059T>C, XM_011529280.2:c.1059T>G, XM_011529280.1:c.1059T>A, XM_011529280.1:c.1059T>C, XM_011529280.1:c.1059T>G, NP_060797.2:p.Asp544Glu, NP_060797.2:p.Asp544Glu, NP_001336874.1:p.Asp544Glu, NP_001336874.1:p.Asp544Glu, XP_011527582.1:p.Asp353Glu, XP_011527582.1:p.Asp353Glu

Select item 145995681814.

rs1459956818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:13072350 (GRCh38)
20:13052998 (GRCh37)
Canonical SPDI:: NC_000020.11:13072349:C:T
Gene:: SPTLC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_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_000020.11:g.13072350C>T, NC_000020.10:g.13052998C>T, NG_053155.1:g.68372C>T, NM_018327.4:c.398C>T, NM_018327.3:c.398C>T, NM_018327.2:c.398C>T, NM_001349945.2:c.398C>T, NM_001349945.1:c.398C>T, XM_011529279.2:c.398C>T, XM_011529279.1:c.398C>T, XM_047440255.1:c.398C>T, XM_047440256.1:c.398C>T, NP_060797.2:p.Ala133Val, NP_001336874.1:p.Ala133Val, XP_011527581.1:p.Ala133Val, XP_047296211.1:p.Ala133Val, XP_047296212.1:p.Ala133Val

Select item 145883671915.

rs1458836719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:13164803 (GRCh38)
20:13145450 (GRCh37)
Canonical SPDI:: NC_000020.11:13164802:C:A
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13164803C>A, NC_000020.10:g.13145450C>A, NG_053155.1:g.160825C>A, NM_018327.4:c.1595C>A, NM_018327.3:c.1595C>A, NM_018327.2:c.1595C>A, NM_001349945.2:c.1595C>A, NM_001349945.1:c.1595C>A, XM_011529280.2:c.1022C>A, XM_011529280.1:c.1022C>A, NP_060797.2:p.Ser532Tyr, NP_001336874.1:p.Ser532Tyr, XP_011527582.1:p.Ser341Tyr

Select item 145765832216.

rs1457658322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:13091204 (GRCh38)
20:13071852 (GRCh37)
Canonical SPDI:: NC_000020.11:13091203:A:C,NC_000020.11:13091203:A:G
Gene:: SPTLC3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13091204A>C, NC_000020.11:g.13091204A>G, NC_000020.10:g.13071852A>C, NC_000020.10:g.13071852A>G, NG_053155.1:g.87226A>C, NG_053155.1:g.87226A>G, NM_018327.4:c.729A>C, NM_018327.4:c.729A>G, NM_018327.3:c.729A>C, NM_018327.3:c.729A>G, NM_018327.2:c.729A>C, NM_018327.2:c.729A>G, NM_001349945.2:c.729A>C, NM_001349945.2:c.729A>G, NM_001349945.1:c.729A>C, NM_001349945.1:c.729A>G, XM_011529280.2:c.156A>C, XM_011529280.2:c.156A>G, XM_011529280.1:c.156A>C, XM_011529280.1:c.156A>G, XM_011529279.2:c.729A>C, XM_011529279.2:c.729A>G, XM_011529279.1:c.729A>C, XM_011529279.1:c.729A>G, XM_047440255.1:c.729A>C, XM_047440255.1:c.729A>G, XM_047440256.1:c.729A>C, XM_047440256.1:c.729A>G

Select item 145600445317.

rs1456004453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:13048971 (GRCh38)
20:13029619 (GRCh37)
Canonical SPDI:: NC_000020.11:13048970:T:C
Gene:: SPTLC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.13048971T>C, NC_000020.10:g.13029619T>C, NG_053155.1:g.44993T>C, NM_018327.4:c.144T>C, NM_018327.3:c.144T>C, NM_018327.2:c.144T>C, NM_001349945.2:c.144T>C, NM_001349945.1:c.144T>C, XM_011529279.2:c.144T>C, XM_011529279.1:c.144T>C, XM_047440255.1:c.144T>C, XM_047440256.1:c.144T>C

Select item 145388962118.

rs1453889621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:13117557 (GRCh38)
20:13098204 (GRCh37)
Canonical SPDI:: NC_000020.11:13117556:A:G
Gene:: SPTLC3 (Varview), TASP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13117557A>G, NC_000020.10:g.13098204A>G, NG_053155.1:g.113579A>G, NM_018327.4:c.984A>G, NM_018327.3:c.984A>G, NM_018327.2:c.984A>G, NM_001349945.2:c.984A>G, NM_001349945.1:c.984A>G, XM_011529280.2:c.411A>G, XM_011529280.1:c.411A>G, XM_011529279.2:c.984A>G, XM_011529279.1:c.984A>G, XM_047440255.1:c.984A>G

Select item 145233418319.

rs1452334183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:13072399 (GRCh38)
20:13053047 (GRCh37)
Canonical SPDI:: NC_000020.11:13072398:C:A
Gene:: SPTLC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.13072399C>A, NC_000020.10:g.13053047C>A, NG_053155.1:g.68421C>A, NM_018327.4:c.447C>A, NM_018327.3:c.447C>A, NM_018327.2:c.447C>A, NM_001349945.2:c.447C>A, NM_001349945.1:c.447C>A, XM_011529279.2:c.447C>A, XM_011529279.1:c.447C>A, XM_047440255.1:c.447C>A, XM_047440256.1:c.447C>A, NP_060797.2:p.Asn149Lys, NP_001336874.1:p.Asn149Lys, XP_011527581.1:p.Asn149Lys, XP_047296211.1:p.Asn149Lys, XP_047296212.1:p.Asn149Lys

Select item 145129512620.

rs1451295126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:13072303 (GRCh38)
20:13052951 (GRCh37)
Canonical SPDI:: NC_000020.11:13072302:C:T
Gene:: SPTLC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.13072303C>T, NC_000020.10:g.13052951C>T, NG_053155.1:g.68325C>T, NM_018327.4:c.351C>T, NM_018327.3:c.351C>T, NM_018327.2:c.351C>T, NM_001349945.2:c.351C>T, NM_001349945.1:c.351C>T, XM_011529279.2:c.351C>T, XM_011529279.1:c.351C>T, XM_047440255.1:c.351C>T, XM_047440256.1:c.351C>T

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