SNP Links for Protein (Select 13376331) - SNP

Select item 14906984181.

rs1490698418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:50269231 (GRCh38)
14:50735949 (GRCh37)
Canonical SPDI:: NC_000014.9:50269230:G:C
Gene:: L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50269231G>C, NC_000014.8:g.50735949G>C, NG_008092.1:g.47999C>G, NM_024884.3:c.838C>G, NM_024884.2:c.838C>G, XM_005268075.6:c.838C>G, XM_005268075.5:c.838C>G, XM_005268075.4:c.838C>G, XM_005268075.3:c.838C>G, XM_005268075.2:c.838C>G, XM_005268075.1:c.838C>G, XM_011537167.4:c.703C>G, XM_011537167.3:c.703C>G, XM_011537167.2:c.703C>G, XM_011537167.1:c.703C>G, XM_011537168.4:c.292C>G, XM_011537168.3:c.292C>G, XM_011537168.2:c.292C>G, XM_011537168.1:c.292C>G, XM_017021655.3:c.727C>G, XM_017021655.2:c.727C>G, XM_017021655.1:c.727C>G, XM_047431777.1:c.292C>G, NP_079160.1:p.Pro280Ala, XP_005268132.1:p.Pro280Ala, XP_011535469.1:p.Pro235Ala, XP_011535470.1:p.Pro98Ala, XP_016877144.1:p.Pro243Ala, XP_047287733.1:p.Pro98Ala

Select item 14873924142.

rs1487392414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:50302108 (GRCh38)
14:50768826 (GRCh37)
Canonical SPDI:: NC_000014.9:50302107:T:G
Gene:: L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50302108T>G, NC_000014.8:g.50768826T>G, NG_008092.1:g.15122A>C, NM_024884.3:c.317A>C, NM_024884.2:c.317A>C, XM_005268075.6:c.317A>C, XM_005268075.5:c.317A>C, XM_005268075.4:c.317A>C, XM_005268075.3:c.317A>C, XM_005268075.2:c.317A>C, XM_005268075.1:c.317A>C, XM_011537167.4:c.182A>C, XM_011537167.3:c.182A>C, XM_011537167.2:c.182A>C, XM_011537167.1:c.182A>C, XM_017021655.3:c.206A>C, XM_017021655.2:c.206A>C, XM_017021655.1:c.206A>C, XR_007064046.1:n.396A>C, XR_007064047.1:n.396A>C, NP_079160.1:p.Glu106Ala, XP_005268132.1:p.Glu106Ala, XP_011535469.1:p.Glu61Ala, XP_016877144.1:p.Glu69Ala

Select item 14868160413.

rs1486816041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:50269202 (GRCh38)
14:50735920 (GRCh37)
Canonical SPDI:: NC_000014.9:50269201:C:A
Gene:: L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.50269202C>A, NC_000014.8:g.50735920C>A, NG_008092.1:g.48028G>T, NM_024884.3:c.867G>T, NM_024884.2:c.867G>T, XM_005268075.6:c.867G>T, XM_005268075.5:c.867G>T, XM_005268075.4:c.867G>T, XM_005268075.3:c.867G>T, XM_005268075.2:c.867G>T, XM_005268075.1:c.867G>T, XM_011537167.4:c.732G>T, XM_011537167.3:c.732G>T, XM_011537167.2:c.732G>T, XM_011537167.1:c.732G>T, XM_011537168.4:c.321G>T, XM_011537168.3:c.321G>T, XM_011537168.2:c.321G>T, XM_011537168.1:c.321G>T, XM_017021655.3:c.756G>T, XM_017021655.2:c.756G>T, XM_017021655.1:c.756G>T, XM_047431777.1:c.321G>T, NP_079160.1:p.Lys289Asn, XP_005268132.1:p.Lys289Asn, XP_011535469.1:p.Lys244Asn, XP_011535470.1:p.Lys107Asn, XP_016877144.1:p.Lys252Asn, XP_047287733.1:p.Lys107Asn

Select item 14852065164.

rs1485206516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:50247155 (GRCh38)
14:50713873 (GRCh37)
Canonical SPDI:: NC_000014.9:50247154:A:G
Gene:: L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.50247155A>G, NC_000014.8:g.50713873A>G, NG_008092.1:g.70075T>C, NM_024884.3:c.1295T>C, NM_024884.2:c.1295T>C, XM_005268075.6:c.1295T>C, XM_005268075.5:c.1295T>C, XM_005268075.4:c.1295T>C, XM_005268075.3:c.1295T>C, XM_005268075.2:c.1295T>C, XM_005268075.1:c.1295T>C, XM_011537167.4:c.1160T>C, XM_011537167.3:c.1160T>C, XM_011537167.2:c.1160T>C, XM_011537167.1:c.1160T>C, XM_011537168.4:c.749T>C, XM_011537168.3:c.749T>C, XM_011537168.2:c.749T>C, XM_011537168.1:c.749T>C, XM_017021655.3:c.1184T>C, XM_017021655.2:c.1184T>C, XM_017021655.1:c.1184T>C, XM_047431777.1:c.749T>C, NP_079160.1:p.Ile432Thr, XP_005268132.1:p.Ile432Thr, XP_011535469.1:p.Ile387Thr, XP_011535470.1:p.Ile250Thr, XP_016877144.1:p.Ile395Thr, XP_047287733.1:p.Ile250Thr

Select item 14819511595.

rs1481951159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:50294142 (GRCh38)
14:50760860 (GRCh37)
Canonical SPDI:: NC_000014.9:50294141:A:G
Gene:: L2HGDH (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000014.9:g.50294142A>G, NC_000014.8:g.50760860A>G, NG_008092.1:g.23088T>C, NM_024884.3:c.513T>C, NM_024884.2:c.513T>C, XM_005268075.6:c.513T>C, XM_005268075.5:c.513T>C, XM_005268075.4:c.513T>C, XM_005268075.3:c.513T>C, XM_005268075.2:c.513T>C, XM_005268075.1:c.513T>C, XM_011537167.4:c.378T>C, XM_011537167.3:c.378T>C, XM_011537167.2:c.378T>C, XM_011537167.1:c.378T>C, XM_017021655.3:c.402T>C, XM_017021655.2:c.402T>C, XM_017021655.1:c.402T>C, XR_007064046.1:n.592T>C, XR_007064047.1:n.592T>C

Select item 14812316156.

rs1481231615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 14:50265394 (GRCh38)
14:50732112 (GRCh37)
Canonical SPDI:: NC_000014.9:50265393:T:A,NC_000014.9:50265393:T:G
Gene:: L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50265394T>A, NC_000014.9:g.50265394T>G, NC_000014.8:g.50732112T>A, NC_000014.8:g.50732112T>G, NG_008092.1:g.51836A>T, NG_008092.1:g.51836A>C, NM_024884.3:c.1160A>T, NM_024884.3:c.1160A>C, NM_024884.2:c.1160A>T, NM_024884.2:c.1160A>C, XM_005268075.6:c.1160A>T, XM_005268075.6:c.1160A>C, XM_005268075.5:c.1160A>T, XM_005268075.5:c.1160A>C, XM_005268075.4:c.1160A>T, XM_005268075.4:c.1160A>C, XM_005268075.3:c.1160A>T, XM_005268075.3:c.1160A>C, XM_005268075.2:c.1160A>T, XM_005268075.2:c.1160A>C, XM_005268075.1:c.1160A>T, XM_005268075.1:c.1160A>C, XM_011537167.4:c.1025A>T, XM_011537167.4:c.1025A>C, XM_011537167.3:c.1025A>T, XM_011537167.3:c.1025A>C, XM_011537167.2:c.1025A>T, XM_011537167.2:c.1025A>C, XM_011537167.1:c.1025A>T, XM_011537167.1:c.1025A>C, XM_011537168.4:c.614A>T, XM_011537168.4:c.614A>C, XM_011537168.3:c.614A>T, XM_011537168.3:c.614A>C, XM_011537168.2:c.614A>T, XM_011537168.2:c.614A>C, XM_011537168.1:c.614A>T, XM_011537168.1:c.614A>C, XM_017021655.3:c.1049A>T, XM_017021655.3:c.1049A>C, XM_017021655.2:c.1049A>T, XM_017021655.2:c.1049A>C, XM_017021655.1:c.1049A>T, XM_017021655.1:c.1049A>C, XM_047431777.1:c.614A>T, XM_047431777.1:c.614A>C, NP_079160.1:p.Lys387Ile, NP_079160.1:p.Lys387Thr, XP_005268132.1:p.Lys387Ile, XP_005268132.1:p.Lys387Thr, XP_011535469.1:p.Lys342Ile, XP_011535469.1:p.Lys342Thr, XP_011535470.1:p.Lys205Ile, XP_011535470.1:p.Lys205Thr, XP_016877144.1:p.Lys350Ile, XP_016877144.1:p.Lys350Thr, XP_047287733.1:p.Lys205Ile, XP_047287733.1:p.Lys205Thr

Select item 14811323137.

rs1481132313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50247081 (GRCh38)
14:50713799 (GRCh37)
Canonical SPDI:: NC_000014.9:50247080:C:T
Gene:: L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50247081C>T, NC_000014.8:g.50713799C>T, NG_008092.1:g.70149G>A, NM_024884.3:c.1369G>A, NM_024884.2:c.1369G>A, XM_005268075.6:c.1369G>A, XM_005268075.5:c.1369G>A, XM_005268075.4:c.1369G>A, XM_005268075.3:c.1369G>A, XM_005268075.2:c.1369G>A, XM_005268075.1:c.1369G>A, XM_011537167.4:c.1234G>A, XM_011537167.3:c.1234G>A, XM_011537167.2:c.1234G>A, XM_011537167.1:c.1234G>A, XM_011537168.4:c.823G>A, XM_011537168.3:c.823G>A, XM_011537168.2:c.823G>A, XM_011537168.1:c.823G>A, XM_017021655.3:c.1258G>A, XM_017021655.2:c.1258G>A, XM_017021655.1:c.1258G>A, XM_047431777.1:c.823G>A, NP_079160.1:p.Val457Ile, XP_005268132.1:p.Val457Ile, XP_011535469.1:p.Val412Ile, XP_011535470.1:p.Val275Ile, XP_016877144.1:p.Val420Ile, XP_047287733.1:p.Val275Ile

Select item 14746343528.

rs1474634352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:50247196 (GRCh38)
14:50713914 (GRCh37)
Canonical SPDI:: NC_000014.9:50247195:A:T
Gene:: L2HGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50247196A>T, NC_000014.8:g.50713914A>T, NG_008092.1:g.70034T>A, NM_024884.3:c.1254T>A, NM_024884.2:c.1254T>A, XM_005268075.6:c.1254T>A, XM_005268075.5:c.1254T>A, XM_005268075.4:c.1254T>A, XM_005268075.3:c.1254T>A, XM_005268075.2:c.1254T>A, XM_005268075.1:c.1254T>A, XM_011537167.4:c.1119T>A, XM_011537167.3:c.1119T>A, XM_011537167.2:c.1119T>A, XM_011537167.1:c.1119T>A, XM_011537168.4:c.708T>A, XM_011537168.3:c.708T>A, XM_011537168.2:c.708T>A, XM_011537168.1:c.708T>A, XM_017021655.3:c.1143T>A, XM_017021655.2:c.1143T>A, XM_017021655.1:c.1143T>A, XM_047431777.1:c.708T>A, NP_079160.1:p.Asp418Glu, XP_005268132.1:p.Asp418Glu, XP_011535469.1:p.Asp373Glu, XP_011535470.1:p.Asp236Glu, XP_016877144.1:p.Asp381Glu, XP_047287733.1:p.Asp236Glu

Select item 14738028089.

rs1473802808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50302918 (GRCh38)
14:50769636 (GRCh37)
Canonical SPDI:: NC_000014.9:50302917:T:C
Gene:: L2HGDH (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50302918T>C, NC_000014.8:g.50769636T>C, NG_008092.1:g.14312A>G, NM_024884.3:c.240A>G, NM_024884.2:c.240A>G, XM_005268075.6:c.240A>G, XM_005268075.5:c.240A>G, XM_005268075.4:c.240A>G, XM_005268075.3:c.240A>G, XM_005268075.2:c.240A>G, XM_005268075.1:c.240A>G, XM_011537167.4:c.105A>G, XM_011537167.3:c.105A>G, XM_011537167.2:c.105A>G, XM_011537167.1:c.105A>G, XM_017021655.3:c.129A>G, XM_017021655.2:c.129A>G, XM_017021655.1:c.129A>G, XR_007064046.1:n.319A>G, XR_007064047.1:n.319A>G

Select item 147215552210.

rs1472155522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:50267864 (GRCh38)
14:50734582 (GRCh37)
Canonical SPDI:: NC_000014.9:50267863:C:A
Gene:: L2HGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.50267864C>A, NC_000014.8:g.50734582C>A, NG_008092.1:g.49366G>T, NM_024884.3:c.953G>T, NM_024884.2:c.953G>T, XM_005268075.6:c.953G>T, XM_005268075.5:c.953G>T, XM_005268075.4:c.953G>T, XM_005268075.3:c.953G>T, XM_005268075.2:c.953G>T, XM_005268075.1:c.953G>T, XM_011537167.4:c.818G>T, XM_011537167.3:c.818G>T, XM_011537167.2:c.818G>T, XM_011537167.1:c.818G>T, XM_011537168.4:c.407G>T, XM_011537168.3:c.407G>T, XM_011537168.2:c.407G>T, XM_011537168.1:c.407G>T, XM_017021655.3:c.842G>T, XM_017021655.2:c.842G>T, XM_017021655.1:c.842G>T, XM_047431777.1:c.407G>T, NP_079160.1:p.Arg318Met, XP_005268132.1:p.Arg318Met, XP_011535469.1:p.Arg273Met, XP_011535470.1:p.Arg136Met, XP_016877144.1:p.Arg281Met, XP_047287733.1:p.Arg136Met

Select item 147067351211.

rs1470673512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:50265419 (GRCh38)
14:50732137 (GRCh37)
Canonical SPDI:: NC_000014.9:50265418:C:G
Gene:: L2HGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.50265419C>G, NC_000014.8:g.50732137C>G, NG_008092.1:g.51811G>C, NM_024884.3:c.1135G>C, NM_024884.2:c.1135G>C, XM_005268075.6:c.1135G>C, XM_005268075.5:c.1135G>C, XM_005268075.4:c.1135G>C, XM_005268075.3:c.1135G>C, XM_005268075.2:c.1135G>C, XM_005268075.1:c.1135G>C, XM_011537167.4:c.1000G>C, XM_011537167.3:c.1000G>C, XM_011537167.2:c.1000G>C, XM_011537167.1:c.1000G>C, XM_011537168.4:c.589G>C, XM_011537168.3:c.589G>C, XM_011537168.2:c.589G>C, XM_011537168.1:c.589G>C, XM_017021655.3:c.1024G>C, XM_017021655.2:c.1024G>C, XM_017021655.1:c.1024G>C, XM_047431777.1:c.589G>C, NP_079160.1:p.Gly379Arg, XP_005268132.1:p.Gly379Arg, XP_011535469.1:p.Gly334Arg, XP_011535470.1:p.Gly197Arg, XP_016877144.1:p.Gly342Arg, XP_047287733.1:p.Gly197Arg

Select item 147054895312.

rs1470548953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:50284025 (GRCh38)
14:50750743 (GRCh37)
Canonical SPDI:: NC_000014.9:50284024:C:A
Gene:: L2HGDH (Varview)
Functional Consequence:: missense_variant,initiator_codon_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50284025C>A, NC_000014.8:g.50750743C>A, NG_008092.1:g.33205G>T, NM_024884.3:c.549G>T, NM_024884.2:c.549G>T, XM_005268075.6:c.549G>T, XM_005268075.5:c.549G>T, XM_005268075.4:c.549G>T, XM_005268075.3:c.549G>T, XM_005268075.2:c.549G>T, XM_005268075.1:c.549G>T, XM_011537167.4:c.414G>T, XM_011537167.3:c.414G>T, XM_011537167.2:c.414G>T, XM_011537167.1:c.414G>T, XM_011537168.4:c.3G>T, XM_011537168.3:c.3G>T, XM_011537168.2:c.3G>T, XM_011537168.1:c.3G>T, XM_017021655.3:c.438G>T, XM_017021655.2:c.438G>T, XM_017021655.1:c.438G>T, XM_047431777.1:c.3G>T, XR_007064046.1:n.628G>T, XR_007064047.1:n.628G>T, NP_079160.1:p.Met183Ile, XP_005268132.1:p.Met183Ile, XP_011535469.1:p.Met138Ile, XP_011535470.1:p.Met1Ile, XP_016877144.1:p.Met146Ile, XP_047287733.1:p.Met1Ile

Select item 146702866813.

rs1467028668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:50312144 (GRCh38)
14:50778862 (GRCh37)
Canonical SPDI:: NC_000014.9:50312143:G:A,NC_000014.9:50312143:G:C
Gene:: DMAC2L (Varview), L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.50312144G>A, NC_000014.9:g.50312144G>C, NC_000014.8:g.50778862G>A, NC_000014.8:g.50778862G>C, NG_008092.1:g.5086C>T, NG_008092.1:g.5086C>G, NM_024884.3:c.7C>T, NM_024884.3:c.7C>G, NM_024884.2:c.7C>T, NM_024884.2:c.7C>G, XM_005268075.6:c.7C>T, XM_005268075.6:c.7C>G, XM_005268075.5:c.7C>T, XM_005268075.5:c.7C>G, XM_005268075.4:c.7C>T, XM_005268075.4:c.7C>G, XM_005268075.3:c.7C>T, XM_005268075.3:c.7C>G, XM_005268075.2:c.7C>T, XM_005268075.2:c.7C>G, XM_005268075.1:c.7C>T, XM_005268075.1:c.7C>G, XR_007064046.1:n.86C>T, XR_007064046.1:n.86C>G, XR_007064047.1:n.86C>T, XR_007064047.1:n.86C>G, NP_079160.1:p.Pro3Ser, NP_079160.1:p.Pro3Ala, XP_005268132.1:p.Pro3Ser, XP_005268132.1:p.Pro3Ala

Select item 146448024914.

rs1464480249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50278528 (GRCh38)
14:50745246 (GRCh37)
Canonical SPDI:: NC_000014.9:50278527:T:C
Gene:: L2HGDH (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.50278528T>C, NC_000014.8:g.50745246T>C, NG_008092.1:g.38702A>G, NM_024884.3:c.730A>G, NM_024884.2:c.730A>G, XM_005268075.6:c.730A>G, XM_005268075.5:c.730A>G, XM_005268075.4:c.730A>G, XM_005268075.3:c.730A>G, XM_005268075.2:c.730A>G, XM_005268075.1:c.730A>G, XM_011537167.4:c.595A>G, XM_011537167.3:c.595A>G, XM_011537167.2:c.595A>G, XM_011537167.1:c.595A>G, XM_011537168.4:c.184A>G, XM_011537168.3:c.184A>G, XM_011537168.2:c.184A>G, XM_011537168.1:c.184A>G, XM_017021655.3:c.619A>G, XM_017021655.2:c.619A>G, XM_017021655.1:c.619A>G, XM_047431777.1:c.184A>G, XR_007064046.1:n.901A>G, XR_007064047.1:n.901A>G, NP_079160.1:p.Asn244Asp, XP_005268132.1:p.Asn244Asp, XP_011535469.1:p.Asn199Asp, XP_011535470.1:p.Asn62Asp, XP_016877144.1:p.Asn207Asp, XP_047287733.1:p.Asn62Asp

Select item 146398825915.

rs1463988259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50302043 (GRCh38)
14:50768761 (GRCh37)
Canonical SPDI:: NC_000014.9:50302042:C:T
Gene:: L2HGDH (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.50302043C>T, NC_000014.8:g.50768761C>T, NG_008092.1:g.15187G>A, NM_024884.3:c.382G>A, NM_024884.2:c.382G>A, XM_005268075.6:c.382G>A, XM_005268075.5:c.382G>A, XM_005268075.4:c.382G>A, XM_005268075.3:c.382G>A, XM_005268075.2:c.382G>A, XM_005268075.1:c.382G>A, XM_011537167.4:c.247G>A, XM_011537167.3:c.247G>A, XM_011537167.2:c.247G>A, XM_011537167.1:c.247G>A, XM_017021655.3:c.271G>A, XM_017021655.2:c.271G>A, XM_017021655.1:c.271G>A, XR_007064046.1:n.461G>A, XR_007064047.1:n.461G>A, NP_079160.1:p.Gly128Arg, XP_005268132.1:p.Gly128Arg, XP_011535469.1:p.Gly83Arg, XP_016877144.1:p.Gly91Arg

Select item 146160600916.

rs1461606009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:50267850 (GRCh38)
14:50734568 (GRCh37)
Canonical SPDI:: NC_000014.9:50267849:T:C
Gene:: L2HGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.50267850T>C, NC_000014.8:g.50734568T>C, NG_008092.1:g.49380A>G, NM_024884.3:c.967A>G, NM_024884.2:c.967A>G, XM_005268075.6:c.967A>G, XM_005268075.5:c.967A>G, XM_005268075.4:c.967A>G, XM_005268075.3:c.967A>G, XM_005268075.2:c.967A>G, XM_005268075.1:c.967A>G, XM_011537167.4:c.832A>G, XM_011537167.3:c.832A>G, XM_011537167.2:c.832A>G, XM_011537167.1:c.832A>G, XM_011537168.4:c.421A>G, XM_011537168.3:c.421A>G, XM_011537168.2:c.421A>G, XM_011537168.1:c.421A>G, XM_017021655.3:c.856A>G, XM_017021655.2:c.856A>G, XM_017021655.1:c.856A>G, XM_047431777.1:c.421A>G, NP_079160.1:p.Ile323Val, XP_005268132.1:p.Ile323Val, XP_011535469.1:p.Ile278Val, XP_011535470.1:p.Ile141Val, XP_016877144.1:p.Ile286Val, XP_047287733.1:p.Ile141Val

Select item 145814520117.

rs1458145201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:50302065 (GRCh38)
14:50768783 (GRCh37)
Canonical SPDI:: NC_000014.9:50302064:G:A
Gene:: L2HGDH (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_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)
HGVS:: NC_000014.9:g.50302065G>A, NC_000014.8:g.50768783G>A, NG_008092.1:g.15165C>T, NM_024884.3:c.360C>T, NM_024884.2:c.360C>T, XM_005268075.6:c.360C>T, XM_005268075.5:c.360C>T, XM_005268075.4:c.360C>T, XM_005268075.3:c.360C>T, XM_005268075.2:c.360C>T, XM_005268075.1:c.360C>T, XM_011537167.4:c.225C>T, XM_011537167.3:c.225C>T, XM_011537167.2:c.225C>T, XM_011537167.1:c.225C>T, XM_017021655.3:c.249C>T, XM_017021655.2:c.249C>T, XM_017021655.1:c.249C>T, XR_007064046.1:n.439C>T, XR_007064047.1:n.439C>T

Select item 145674161818.

rs1456741618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50302144 (GRCh38)
14:50768862 (GRCh37)
Canonical SPDI:: NC_000014.9:50302143:C:T
Gene:: L2HGDH (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50302144C>T, NC_000014.8:g.50768862C>T, NG_008092.1:g.15086G>A, NM_024884.3:c.281G>A, NM_024884.2:c.281G>A, XM_005268075.6:c.281G>A, XM_005268075.5:c.281G>A, XM_005268075.4:c.281G>A, XM_005268075.3:c.281G>A, XM_005268075.2:c.281G>A, XM_005268075.1:c.281G>A, XM_011537167.4:c.146G>A, XM_011537167.3:c.146G>A, XM_011537167.2:c.146G>A, XM_011537167.1:c.146G>A, XM_017021655.3:c.170G>A, XM_017021655.2:c.170G>A, XM_017021655.1:c.170G>A, XR_007064046.1:n.360G>A, XR_007064047.1:n.360G>A, NP_079160.1:p.Ser94Asn, XP_005268132.1:p.Ser94Asn, XP_011535469.1:p.Ser49Asn, XP_016877144.1:p.Ser57Asn

Select item 145657750719.

rs1456577507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:50294201 (GRCh38)
14:50760919 (GRCh37)
Canonical SPDI:: NC_000014.9:50294200:G:A
Gene:: L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50294201G>A, NC_000014.8:g.50760919G>A, NG_008092.1:g.23029C>T, NM_024884.3:c.454C>T, NM_024884.2:c.454C>T, XM_005268075.6:c.454C>T, XM_005268075.5:c.454C>T, XM_005268075.4:c.454C>T, XM_005268075.3:c.454C>T, XM_005268075.2:c.454C>T, XM_005268075.1:c.454C>T, XM_011537167.4:c.319C>T, XM_011537167.3:c.319C>T, XM_011537167.2:c.319C>T, XM_011537167.1:c.319C>T, XM_017021655.3:c.343C>T, XM_017021655.2:c.343C>T, XM_017021655.1:c.343C>T, XR_007064046.1:n.533C>T, XR_007064047.1:n.533C>T

Select item 145403178120.

rs1454031781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:50283943 (GRCh38)
14:50750661 (GRCh37)
Canonical SPDI:: NC_000014.9:50283942:C:T
Gene:: L2HGDH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.50283943C>T, NC_000014.8:g.50750661C>T, NG_008092.1:g.33287G>A, NM_024884.3:c.631G>A, NM_024884.2:c.631G>A, XM_005268075.6:c.631G>A, XM_005268075.5:c.631G>A, XM_005268075.4:c.631G>A, XM_005268075.3:c.631G>A, XM_005268075.2:c.631G>A, XM_005268075.1:c.631G>A, XM_011537167.4:c.496G>A, XM_011537167.3:c.496G>A, XM_011537167.2:c.496G>A, XM_011537167.1:c.496G>A, XM_011537168.4:c.85G>A, XM_011537168.3:c.85G>A, XM_011537168.2:c.85G>A, XM_011537168.1:c.85G>A, XM_017021655.3:c.520G>A, XM_017021655.2:c.520G>A, XM_017021655.1:c.520G>A, XM_047431777.1:c.85G>A, XR_007064046.1:n.710G>A, XR_007064047.1:n.710G>A, NP_079160.1:p.Gly211Ser, XP_005268132.1:p.Gly211Ser, XP_011535469.1:p.Gly166Ser, XP_011535470.1:p.Gly29Ser, XP_016877144.1:p.Gly174Ser, XP_047287733.1:p.Gly29Ser

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dbSNP

Result Filters

Clinical Significance

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Items: 1 to 20 of 461

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