SNP Links for Protein (Select 134288884) - SNP

Links from Protein

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Select item 14908508361.

rs1490850836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:23532710 (GRCh38)
16:23544031 (GRCh37)
Canonical SPDI:: NC_000016.10:23532709:C:G,NC_000016.10:23532709:C:T
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23532710C>G, NC_000016.10:g.23532710C>T, NC_000016.9:g.23544031C>G, NC_000016.9:g.23544031C>T, NG_027752.2:g.29666G>C, NG_027752.2:g.29666G>A, NM_001083614.2:c.1014G>C, NM_001083614.2:c.1014G>A, NM_001083614.1:c.1014G>C, NM_001083614.1:c.1014G>A, NR_003501.2:n.1021G>C, NR_003501.2:n.1021G>A, NR_003501.1:n.1046G>C, NR_003501.1:n.1046G>A, NM_001308211.1:c.1014G>C, NM_001308211.1:c.1014G>A, XM_011545738.2:c.942G>C, XM_011545738.2:c.942G>A, XM_011545738.1:c.942G>C, XM_011545738.1:c.942G>A, XR_001751841.1:n.1336G>C, XR_001751841.1:n.1336G>A, NM_133451.1:c.1014G>C, NM_133451.1:c.1014G>A, NP_001077083.1:p.Gln338His, NP_001295140.1:p.Gln338His, XP_011544040.1:p.Gln314His

Select item 14886766932.

rs1488676693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23524383 (GRCh38)
16:23535704 (GRCh37)
Canonical SPDI:: NC_000016.10:23524382:C:T
Gene:: GGA2 (Varview), EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23524383C>T, NC_000016.9:g.23535704C>T, NG_027752.2:g.37993G>A, NM_001083614.2:c.1560G>A, NM_001083614.1:c.1560G>A, NR_003501.2:n.1567G>A, NR_003501.1:n.1592G>A, XM_011545738.2:c.1488G>A, XM_011545738.1:c.1488G>A, XR_001751841.1:n.1882G>A, NM_133451.1:c.1560G>A

Select item 14868422813.

rs1486842281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23534982 (GRCh38)
16:23546303 (GRCh37)
Canonical SPDI:: NC_000016.10:23534981:C:G
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.23534982C>G, NC_000016.9:g.23546303C>G, NG_027752.2:g.27394G>C, NM_001083614.2:c.864G>C, NM_001083614.1:c.864G>C, NR_003501.2:n.871G>C, NR_003501.1:n.896G>C, NM_001308211.1:c.864G>C, XM_011545738.2:c.792G>C, XM_011545738.1:c.792G>C, XR_001751841.1:n.1186G>C, NM_133451.1:c.864G>C, NP_001077083.1:p.Arg288Ser, NP_001295140.1:p.Arg288Ser, XP_011544040.1:p.Arg264Ser

Select item 14867089484.

rs1486708948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:23529587 (GRCh38)
16:23540908 (GRCh37)
Canonical SPDI:: NC_000016.10:23529586:A:G
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23529587A>G, NC_000016.9:g.23540908A>G, NG_027752.2:g.32789T>C, NM_001083614.2:c.1267T>C, NM_001083614.1:c.1267T>C, NR_003501.2:n.1274T>C, NR_003501.1:n.1299T>C, NM_001308211.1:c.1267T>C, XM_011545738.2:c.1195T>C, XM_011545738.1:c.1195T>C, XR_001751841.1:n.1589T>C, NM_133451.1:c.1267T>C, NP_001077083.1:p.Tyr423His, NP_001295140.1:p.Tyr423His, XP_011544040.1:p.Tyr399His

Select item 14826595945.

rs1482659594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:23529769 (GRCh38)
16:23541090 (GRCh37)
Canonical SPDI:: NC_000016.10:23529768:A:G
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23529769A>G, NC_000016.9:g.23541090A>G, NG_027752.2:g.32607T>C, NM_001083614.2:c.1196T>C, NM_001083614.1:c.1196T>C, NR_003501.2:n.1203T>C, NR_003501.1:n.1228T>C, NM_001308211.1:c.1196T>C, XM_011545738.2:c.1124T>C, XM_011545738.1:c.1124T>C, XR_001751841.1:n.1518T>C, NM_133451.1:c.1196T>C, NP_001077083.1:p.Val399Ala, NP_001295140.1:p.Val399Ala, XP_011544040.1:p.Val375Ala

Select item 14816751846.

rs1481675184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23525358 (GRCh38)
16:23536679 (GRCh37)
Canonical SPDI:: NC_000016.10:23525357:C:G
Gene:: GGA2 (Varview), EARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23525358C>G, NC_000016.9:g.23536679C>G, NG_027752.2:g.37018G>C, NM_001083614.2:c.1374G>C, NM_001083614.1:c.1374G>C, NR_003501.2:n.1381G>C, NR_003501.1:n.1406G>C, NM_001308211.1:c.1374G>C, XM_011545738.2:c.1302G>C, XM_011545738.1:c.1302G>C, XR_001751841.1:n.1696G>C, NM_133451.1:c.1374G>C, NP_001077083.1:p.Met458Ile, NP_001295140.1:p.Met458Ile, XP_011544040.1:p.Met434Ile

Select item 14806558477.

rs1480655847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:23532748 (GRCh38)
16:23544069 (GRCh37)
Canonical SPDI:: NC_000016.10:23532747:T:C,NC_000016.10:23532747:T:G
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
G=0.003821/7 (Korea1K)
HGVS:: NC_000016.10:g.23532748T>C, NC_000016.10:g.23532748T>G, NC_000016.9:g.23544069T>C, NC_000016.9:g.23544069T>G, NG_027752.2:g.29628A>G, NG_027752.2:g.29628A>C, NM_001083614.2:c.976A>G, NM_001083614.2:c.976A>C, NM_001083614.1:c.976A>G, NM_001083614.1:c.976A>C, NR_003501.2:n.983A>G, NR_003501.2:n.983A>C, NR_003501.1:n.1008A>G, NR_003501.1:n.1008A>C, NM_001308211.1:c.976A>G, NM_001308211.1:c.976A>C, XM_011545738.2:c.904A>G, XM_011545738.2:c.904A>C, XM_011545738.1:c.904A>G, XM_011545738.1:c.904A>C, XR_001751841.1:n.1298A>G, XR_001751841.1:n.1298A>C, NM_133451.1:c.976A>G, NM_133451.1:c.976A>C, NP_001077083.1:p.Thr326Ala, NP_001077083.1:p.Thr326Pro, NP_001295140.1:p.Thr326Ala, NP_001295140.1:p.Thr326Pro, XP_011544040.1:p.Thr302Ala, XP_011544040.1:p.Thr302Pro

Select item 14801620378.

rs1480162037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23552264 (GRCh38)
16:23563585 (GRCh37)
Canonical SPDI:: NC_000016.10:23552263:G:A
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.23552264G>A, NC_000016.9:g.23563585G>A, NG_027752.2:g.10112C>T, NM_001083614.2:c.180C>T, NM_001083614.1:c.180C>T, NR_003501.2:n.187C>T, NR_003501.1:n.212C>T, NM_001308211.1:c.180C>T, XM_011545738.2:c.108C>T, XM_011545738.1:c.108C>T, XR_001751841.1:n.502C>T, NM_133451.1:c.180C>T

Select item 14801525239.

rs1480152523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23557273 (GRCh38)
16:23568594 (GRCh37)
Canonical SPDI:: NC_000016.10:23557272:C:G
Gene:: UBFD1 (Varview), EARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.23557273C>G, NC_000016.9:g.23568594C>G, NG_027752.2:g.5103G>C, NM_001083614.2:c.71G>C, NM_001083614.1:c.71G>C, NR_003501.2:n.78G>C, NR_003501.1:n.103G>C, NM_001308211.1:c.71G>C, XM_011545738.2:c.-317G>C, XM_011545738.1:c.-317G>C, XR_001751841.1:n.78G>C, NM_133451.1:c.71G>C, NP_001077083.1:p.Arg24Pro, NP_001295140.1:p.Arg24Pro

Select item 147533557010.

rs1475335570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23535224 (GRCh38)
16:23546545 (GRCh37)
Canonical SPDI:: NC_000016.10:23535223:G:A
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23535224G>A, NC_000016.9:g.23546545G>A, NG_027752.2:g.27152C>T, NM_001083614.2:c.622C>T, NM_001083614.1:c.622C>T, NR_003501.2:n.629C>T, NR_003501.1:n.654C>T, NM_001308211.1:c.622C>T, XM_011545738.2:c.550C>T, XM_011545738.1:c.550C>T, XR_001751841.1:n.944C>T, NM_133451.1:c.622C>T, NP_001077083.1:p.His208Tyr, NP_001295140.1:p.His208Tyr, XP_011544040.1:p.His184Tyr

Select item 147445982611.

rs1474459826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23525332 (GRCh38)
16:23536653 (GRCh37)
Canonical SPDI:: NC_000016.10:23525331:C:G
Gene:: GGA2 (Varview), EARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23525332C>G, NC_000016.9:g.23536653C>G, NG_027752.2:g.37044G>C, NM_001083614.2:c.1400G>C, NM_001083614.1:c.1400G>C, NR_003501.2:n.1407G>C, NR_003501.1:n.1432G>C, NM_001308211.1:c.1400G>C, XM_011545738.2:c.1328G>C, XM_011545738.1:c.1328G>C, XR_001751841.1:n.1722G>C, NM_133451.1:c.1400G>C, NP_001077083.1:p.Gly467Ala, NP_001295140.1:p.Gly467Ala, XP_011544040.1:p.Gly443Ala

Select item 147059846712.

rs1470598467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:23532717 (GRCh38)
16:23544038 (GRCh37)
Canonical SPDI:: NC_000016.10:23532716:A:T
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.23532717A>T, NC_000016.9:g.23544038A>T, NG_027752.2:g.29659T>A, NM_001083614.2:c.1007T>A, NM_001083614.1:c.1007T>A, NR_003501.2:n.1014T>A, NR_003501.1:n.1039T>A, NM_001308211.1:c.1007T>A, XM_011545738.2:c.935T>A, XM_011545738.1:c.935T>A, XR_001751841.1:n.1329T>A, NM_133451.1:c.1007T>A, NP_001077083.1:p.Leu336Gln, NP_001295140.1:p.Leu336Gln, XP_011544040.1:p.Leu312Gln

Select item 146964022313.

rs1469640223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:23544590 (GRCh38)
16:23555911 (GRCh37)
Canonical SPDI:: NC_000016.10:23544589:C:G,NC_000016.10:23544589:C:T
Gene:: EARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23544590C>G, NC_000016.10:g.23544590C>T, NC_000016.9:g.23555911C>G, NC_000016.9:g.23555911C>T, NG_027752.2:g.17786G>C, NG_027752.2:g.17786G>A, NM_001083614.2:c.409G>C, NM_001083614.2:c.409G>A, NM_001083614.1:c.409G>C, NM_001083614.1:c.409G>A, NR_003501.2:n.416G>C, NR_003501.2:n.416G>A, NR_003501.1:n.441G>C, NR_003501.1:n.441G>A, NM_001308211.1:c.409G>C, NM_001308211.1:c.409G>A, XM_011545738.2:c.337G>C, XM_011545738.2:c.337G>A, XM_011545738.1:c.337G>C, XM_011545738.1:c.337G>A, XR_001751841.1:n.731G>C, XR_001751841.1:n.731G>A, NM_133451.1:c.409G>C, NM_133451.1:c.409G>A, NP_001077083.1:p.Ala137Pro, NP_001077083.1:p.Ala137Thr, NP_001295140.1:p.Ala137Pro, NP_001295140.1:p.Ala137Thr, XP_011544040.1:p.Ala113Pro, XP_011544040.1:p.Ala113Thr

Select item 146540407614.

rs1465404076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23552222 (GRCh38)
16:23563543 (GRCh37)
Canonical SPDI:: NC_000016.10:23552221:C:G
Gene:: EARS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23552222C>G, NC_000016.9:g.23563543C>G, NG_027752.2:g.10154G>C, NM_001083614.2:c.222G>C, NM_001083614.1:c.222G>C, NR_003501.2:n.229G>C, NR_003501.1:n.254G>C, NM_001308211.1:c.222G>C, XM_011545738.2:c.150G>C, XM_011545738.1:c.150G>C, XR_001751841.1:n.544G>C, NM_133451.1:c.222G>C, NP_001077083.1:p.Arg74Ser, NP_001295140.1:p.Arg74Ser, XP_011544040.1:p.Arg50Ser

Select item 146299041615.

rs1462990416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:23557333 (GRCh38)
16:23568654 (GRCh37)
Canonical SPDI:: NC_000016.10:23557332:A:C,NC_000016.10:23557332:A:G
Gene:: UBFD1 (Varview), EARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.23557333A>C, NC_000016.10:g.23557333A>G, NC_000016.9:g.23568654A>C, NC_000016.9:g.23568654A>G, NG_027752.2:g.5043T>G, NG_027752.2:g.5043T>C, NM_001083614.2:c.11T>G, NM_001083614.2:c.11T>C, NM_001083614.1:c.11T>G, NM_001083614.1:c.11T>C, NR_003501.2:n.18T>G, NR_003501.2:n.18T>C, NR_003501.1:n.43T>G, NR_003501.1:n.43T>C, NM_001308211.1:c.11T>G, NM_001308211.1:c.11T>C, XM_011545738.2:c.-377T>G, XM_011545738.2:c.-377T>C, XM_011545738.1:c.-377T>G, XM_011545738.1:c.-377T>C, XR_001751841.1:n.18T>G, XR_001751841.1:n.18T>C, NM_133451.1:c.11T>G, NM_133451.1:c.11T>C, NP_001077083.1:p.Leu4Arg, NP_001077083.1:p.Leu4Pro, NP_001295140.1:p.Leu4Arg, NP_001295140.1:p.Leu4Pro

Select item 146203136616.

rs1462031366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23535215 (GRCh38)
16:23546536 (GRCh37)
Canonical SPDI:: NC_000016.10:23535214:C:T
Gene:: EARS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.23535215C>T, NC_000016.9:g.23546536C>T, NG_027752.2:g.27161G>A, NM_001083614.2:c.631G>A, NM_001083614.1:c.631G>A, NR_003501.2:n.638G>A, NR_003501.1:n.663G>A, NM_001308211.1:c.631G>A, XM_011545738.2:c.559G>A, XM_011545738.1:c.559G>A, XR_001751841.1:n.953G>A, NM_133451.1:c.631G>A, NP_001077083.1:p.Ala211Thr, NP_001295140.1:p.Ala211Thr, XP_011544040.1:p.Ala187Thr

Select item 145829764317.

rs1458297643 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 16:23525319 (GRCh38)
16:23536640 (GRCh37)
Canonical SPDI:: NC_000016.10:23525318:C:
Gene:: GGA2 (Varview), EARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.23525319del, NC_000016.9:g.23536640del, NG_027752.2:g.37057del, NM_001083614.2:c.1413del, NM_001083614.1:c.1413del, NR_003501.2:n.1420del, NR_003501.1:n.1445del, NM_001308211.1:c.1413del, XM_011545738.2:c.1341del, XM_011545738.1:c.1341del, XR_001751841.1:n.1735del, NM_133451.1:c.1413del, NP_001077083.1:p.Lys471fs, NP_001295140.1:p.Lys471fs, XP_011544040.1:p.Lys447fs

Select item 145643170418.

rs1456431704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:23529602 (GRCh38)
16:23540923 (GRCh37)
Canonical SPDI:: NC_000016.10:23529601:A:G
Gene:: EARS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23529602A>G, NC_000016.9:g.23540923A>G, NG_027752.2:g.32774T>C, NM_001083614.2:c.1252T>C, NM_001083614.1:c.1252T>C, NR_003501.2:n.1259T>C, NR_003501.1:n.1284T>C, NM_001308211.1:c.1252T>C, XM_011545738.2:c.1180T>C, XM_011545738.1:c.1180T>C, XR_001751841.1:n.1574T>C, NM_133451.1:c.1252T>C, NP_001077083.1:p.Ser418Pro, NP_001295140.1:p.Ser418Pro, XP_011544040.1:p.Ser394Pro

Select item 145565104419.

rs1455651044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:23529610 (GRCh38)
16:23540931 (GRCh37)
Canonical SPDI:: NC_000016.10:23529609:T:A
Gene:: EARS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23529610T>A, NC_000016.9:g.23540931T>A, NG_027752.2:g.32766A>T, NM_001083614.2:c.1244A>T, NM_001083614.1:c.1244A>T, NR_003501.2:n.1251A>T, NR_003501.1:n.1276A>T, NM_001308211.1:c.1244A>T, XM_011545738.2:c.1172A>T, XM_011545738.1:c.1172A>T, XR_001751841.1:n.1566A>T, NM_133451.1:c.1244A>T, NP_001077083.1:p.Asp415Val, NP_001295140.1:p.Asp415Val, XP_011544040.1:p.Asp391Val

Select item 145447883020.

rs1454478830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23534913 (GRCh38)
16:23546234 (GRCh37)
Canonical SPDI:: NC_000016.10:23534912:G:A
Gene:: EARS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23534913G>A, NC_000016.9:g.23546234G>A, NG_027752.2:g.27463C>T, NM_001083614.2:c.933C>T, NM_001083614.1:c.933C>T, NR_003501.2:n.940C>T, NR_003501.1:n.965C>T, NM_001308211.1:c.933C>T, XM_011545738.2:c.861C>T, XM_011545738.1:c.861C>T, XR_001751841.1:n.1255C>T, NM_133451.1:c.933C>T

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