SNP Links for Protein (Select 190358499) - SNP

Links from Protein

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Select item 14863518221.

rs1486351822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:112265774 (GRCh38)
4:113186930 (GRCh37)
Canonical SPDI:: NC_000004.12:112265773:A:T
Gene:: AP1AR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,initiator_codon_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_000004.12:g.112265774A>T, NC_000004.11:g.113186930A>T, NM_018569.6:c.481A>T, NM_018569.5:c.481A>T, NM_018569.4:c.481A>T, NM_001128426.3:c.382A>T, NM_001128426.2:c.382A>T, NM_001128426.1:c.382A>T, NR_136622.2:n.782A>T, NR_136622.1:n.830A>T, XM_017008380.2:c.1A>T, XM_017008380.1:c.1A>T, XM_047415927.1:c.316A>T, XM_047415928.1:c.217A>T, NP_061039.3:p.Met161Leu, NP_001121898.1:p.Met128Leu, XP_016863869.1:p.Met1Leu, XP_047271883.1:p.Met106Leu, XP_047271884.1:p.Met73Leu

Select item 14847885992.

rs1484788599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:112232135 (GRCh38)
4:113153291 (GRCh37)
Canonical SPDI:: NC_000004.12:112232134:A:C
Gene:: AP1AR (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.112232135A>C, NC_000004.11:g.113153291A>C, NM_018569.6:c.44A>C, NM_018569.5:c.44A>C, NM_018569.4:c.44A>C, NM_001128426.3:c.44A>C, NM_001128426.2:c.44A>C, NM_001128426.1:c.44A>C, NR_136622.2:n.349A>C, NR_136622.1:n.397A>C, NP_061039.3:p.Lys15Thr, NP_001121898.1:p.Lys15Thr

Select item 14847176853.

rs1484717685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:112263018 (GRCh38)
4:113184174 (GRCh37)
Canonical SPDI:: NC_000004.12:112263017:G:C
Gene:: AP1AR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000004.12:g.112263018G>C, NC_000004.11:g.113184174G>C, NM_018569.6:c.313G>C, NM_018569.5:c.313G>C, NM_018569.4:c.313G>C, NR_136622.2:n.618G>C, NR_136622.1:n.666G>C, XM_017008380.2:c.-168G>C, XM_017008380.1:c.-168G>C, XM_047415927.1:c.148G>C, NP_061039.3:p.Glu105Gln, XP_047271883.1:p.Glu50Gln

Select item 14738976724.

rs1473897672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:112232144 (GRCh38)
4:113153300 (GRCh37)
Canonical SPDI:: NC_000004.12:112232143:G:A
Gene:: AP1AR (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.112232144G>A, NC_000004.11:g.113153300G>A, NM_018569.6:c.53G>A, NM_018569.5:c.53G>A, NM_018569.4:c.53G>A, NM_001128426.3:c.53G>A, NM_001128426.2:c.53G>A, NM_001128426.1:c.53G>A, NR_136622.2:n.358G>A, NR_136622.1:n.406G>A, NP_061039.3:p.Gly18Glu, NP_001121898.1:p.Gly18Glu

Select item 14657851985.

rs1465785198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:112232134 (GRCh38)
4:113153290 (GRCh37)
Canonical SPDI:: NC_000004.12:112232133:A:G
Gene:: AP1AR (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.112232134A>G, NC_000004.11:g.113153290A>G, NM_018569.6:c.43A>G, NM_018569.5:c.43A>G, NM_018569.4:c.43A>G, NM_001128426.3:c.43A>G, NM_001128426.2:c.43A>G, NM_001128426.1:c.43A>G, NR_136622.2:n.348A>G, NR_136622.1:n.396A>G, NP_061039.3:p.Lys15Glu, NP_001121898.1:p.Lys15Glu

Select item 14651233316.

rs1465123331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:112260792 (GRCh38)
4:113181948 (GRCh37)
Canonical SPDI:: NC_000004.12:112260791:A:T
Gene:: AP1AR (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_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_000004.12:g.112260792A>T, NC_000004.11:g.113181948A>T, NM_018569.6:c.212A>T, NM_018569.5:c.212A>T, NM_018569.4:c.212A>T, NM_001128426.3:c.212A>T, NM_001128426.2:c.212A>T, NM_001128426.1:c.212A>T, NR_136622.2:n.517A>T, NR_136622.1:n.565A>T, XM_017008380.2:c.-269A>T, XM_017008380.1:c.-269A>T, XM_047415927.1:c.47A>T, XM_047415928.1:c.47A>T, NP_061039.3:p.Asp71Val, NP_001121898.1:p.Asp71Val, XP_047271883.1:p.Asp16Val, XP_047271884.1:p.Asp16Val

Select item 14573495747.

rs1457349574 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 4:112232118 (GRCh38)
4:113153275 (GRCh37)
Canonical SPDI:: NC_000004.12:112232118::CAA
Gene:: AP1AR (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
CAA=0.0003/2 (1000Genomes)
HGVS:: NC_000004.12:g.112232118_112232119insCAA, NC_000004.11:g.113153274_113153275insCAA, NM_018569.6:c.27_28insCAA, NM_018569.5:c.27_28insCAA, NM_018569.4:c.27_28insCAA, NM_001128426.3:c.27_28insCAA, NM_001128426.2:c.27_28insCAA, NM_001128426.1:c.27_28insCAA, NR_136622.2:n.332_333insCAA, NR_136622.1:n.380_381insCAA, NP_061039.3:p.Phe10_Gly11insGln, NP_001121898.1:p.Phe10_Gly11insGln

Select item 14429781678.

rs1442978167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:112268328 (GRCh38)
4:113189484 (GRCh37)
Canonical SPDI:: NC_000004.12:112268327:G:A
Gene:: AP1AR (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.112268328G>A, NC_000004.11:g.113189484G>A, NM_018569.6:c.828G>A, NM_018569.5:c.828G>A, NM_018569.4:c.828G>A, NM_001128426.3:c.729G>A, NM_001128426.2:c.729G>A, NM_001128426.1:c.729G>A, NR_136622.2:n.1129G>A, NR_136622.1:n.1177G>A, XM_017008380.2:c.348G>A, XM_017008380.1:c.348G>A, XM_047415927.1:c.663G>A, XM_047415928.1:c.564G>A

Select item 14404420489.

rs1440442048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:112257787 (GRCh38)
4:113178943 (GRCh37)
Canonical SPDI:: NC_000004.12:112257786:A:C
Gene:: AP1AR (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.112257787A>C, NC_000004.11:g.113178943A>C, NM_018569.6:c.175A>C, NM_018569.5:c.175A>C, NM_018569.4:c.175A>C, NM_001128426.3:c.175A>C, NM_001128426.2:c.175A>C, NM_001128426.1:c.175A>C, NR_136622.2:n.480A>C, NR_136622.1:n.528A>C, XM_017008380.2:c.-306A>C, XM_017008380.1:c.-306A>C, XM_047415927.1:c.-138A>C, XM_047415928.1:c.-138A>C, NP_061039.3:p.Ser59Arg, NP_001121898.1:p.Ser59Arg

Select item 143920282410.

rs1439202824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:112260774 (GRCh38)
4:113181930 (GRCh37)
Canonical SPDI:: NC_000004.12:112260773:C:T
Gene:: AP1AR (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.112260774C>T, NC_000004.11:g.113181930C>T, NM_018569.6:c.194C>T, NM_018569.5:c.194C>T, NM_018569.4:c.194C>T, NM_001128426.3:c.194C>T, NM_001128426.2:c.194C>T, NM_001128426.1:c.194C>T, NR_136622.2:n.499C>T, NR_136622.1:n.547C>T, XM_017008380.2:c.-287C>T, XM_017008380.1:c.-287C>T, XM_047415927.1:c.29C>T, XM_047415928.1:c.29C>T, NP_061039.3:p.Thr65Ile, NP_001121898.1:p.Thr65Ile, XP_047271883.1:p.Thr10Ile, XP_047271884.1:p.Thr10Ile

Select item 143501348911.

rs1435013489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:112263041 (GRCh38)
4:113184197 (GRCh37)
Canonical SPDI:: NC_000004.12:112263040:A:C,NC_000004.12:112263040:A:G
Gene:: AP1AR (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.112263041A>C, NC_000004.12:g.112263041A>G, NC_000004.11:g.113184197A>C, NC_000004.11:g.113184197A>G, NM_018569.6:c.336A>C, NM_018569.6:c.336A>G, NM_018569.5:c.336A>C, NM_018569.5:c.336A>G, NM_018569.4:c.336A>C, NM_018569.4:c.336A>G, NR_136622.2:n.641A>C, NR_136622.2:n.641A>G, NR_136622.1:n.689A>C, NR_136622.1:n.689A>G, XM_017008380.2:c.-145A>C, XM_017008380.2:c.-145A>G, XM_017008380.1:c.-145A>C, XM_017008380.1:c.-145A>G, XM_047415927.1:c.171A>C, XM_047415927.1:c.171A>G

Select item 143482360312.

rs1434823603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:112268253 (GRCh38)
4:113189409 (GRCh37)
Canonical SPDI:: NC_000004.12:112268252:C:T
Gene:: AP1AR (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.112268253C>T, NC_000004.11:g.113189409C>T, NM_018569.6:c.753C>T, NM_018569.5:c.753C>T, NM_018569.4:c.753C>T, NM_001128426.3:c.654C>T, NM_001128426.2:c.654C>T, NM_001128426.1:c.654C>T, NR_136622.2:n.1054C>T, NR_136622.1:n.1102C>T, XM_017008380.2:c.273C>T, XM_017008380.1:c.273C>T, XM_047415927.1:c.588C>T, XM_047415928.1:c.489C>T

Select item 143393584513.

rs1433935845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:112266692 (GRCh38)
4:113187848 (GRCh37)
Canonical SPDI:: NC_000004.12:112266691:G:A
Gene:: AP1AR (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.112266692G>A, NC_000004.11:g.113187848G>A, NM_018569.6:c.619G>A, NM_018569.5:c.619G>A, NM_018569.4:c.619G>A, NM_001128426.3:c.520G>A, NM_001128426.2:c.520G>A, NM_001128426.1:c.520G>A, NR_136622.2:n.920G>A, NR_136622.1:n.968G>A, XM_017008380.2:c.139G>A, XM_017008380.1:c.139G>A, XM_047415927.1:c.454G>A, XM_047415928.1:c.355G>A, NP_061039.3:p.Asp207Asn, NP_001121898.1:p.Asp174Asn, XP_016863869.1:p.Asp47Asn, XP_047271883.1:p.Asp152Asn, XP_047271884.1:p.Asp119Asn

Select item 143359307514.

rs1433593075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:112263052 (GRCh38)
4:113184208 (GRCh37)
Canonical SPDI:: NC_000004.12:112263051:C:T
Gene:: AP1AR (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.112263052C>T, NC_000004.11:g.113184208C>T, NM_018569.6:c.347C>T, NM_018569.5:c.347C>T, NM_018569.4:c.347C>T, NR_136622.2:n.652C>T, NR_136622.1:n.700C>T, XM_017008380.2:c.-134C>T, XM_017008380.1:c.-134C>T, XM_047415927.1:c.182C>T, NP_061039.3:p.Ala116Val, XP_047271883.1:p.Ala61Val

Select item 142940893115.

rs1429408931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:112260815 (GRCh38)
4:113181971 (GRCh37)
Canonical SPDI:: NC_000004.12:112260814:T:C
Gene:: AP1AR (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.112260815T>C, NC_000004.11:g.113181971T>C, NM_018569.6:c.235T>C, NM_018569.5:c.235T>C, NM_018569.4:c.235T>C, NM_001128426.3:c.235T>C, NM_001128426.2:c.235T>C, NM_001128426.1:c.235T>C, NR_136622.2:n.540T>C, NR_136622.1:n.588T>C, XM_017008380.2:c.-246T>C, XM_017008380.1:c.-246T>C, XM_047415927.1:c.70T>C, XM_047415928.1:c.70T>C, NP_061039.3:p.Ser79Pro, NP_001121898.1:p.Ser79Pro, XP_047271883.1:p.Ser24Pro, XP_047271884.1:p.Ser24Pro

Select item 142895468616.

rs1428954686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:112254754 (GRCh38)
4:113175910 (GRCh37)
Canonical SPDI:: NC_000004.12:112254753:A:G
Gene:: AP1AR (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
G=0.001734/29 (TOMMO)
HGVS:: NC_000004.12:g.112254754A>G, NC_000004.11:g.113175910A>G, NM_018569.6:c.140A>G, NM_018569.5:c.140A>G, NM_018569.4:c.140A>G, NM_001128426.3:c.140A>G, NM_001128426.2:c.140A>G, NM_001128426.1:c.140A>G, NR_136622.2:n.445A>G, NR_136622.1:n.493A>G, XM_017008380.2:c.-341A>G, XM_017008380.1:c.-341A>G, XM_047415927.1:c.-173A>G, XM_047415928.1:c.-173A>G, NP_061039.3:p.Asn47Ser, NP_001121898.1:p.Asn47Ser

Select item 142640579217.

rs1426405792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:112268300 (GRCh38)
4:113189456 (GRCh37)
Canonical SPDI:: NC_000004.12:112268299:C:T
Gene:: AP1AR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000004.12:g.112268300C>T, NC_000004.11:g.113189456C>T, NM_018569.6:c.800C>T, NM_018569.5:c.800C>T, NM_018569.4:c.800C>T, NM_001128426.3:c.701C>T, NM_001128426.2:c.701C>T, NM_001128426.1:c.701C>T, NR_136622.2:n.1101C>T, NR_136622.1:n.1149C>T, XM_017008380.2:c.320C>T, XM_017008380.1:c.320C>T, XM_047415927.1:c.635C>T, XM_047415928.1:c.536C>T, NP_061039.3:p.Ala267Val, NP_001121898.1:p.Ala234Val, XP_016863869.1:p.Ala107Val, XP_047271883.1:p.Ala212Val, XP_047271884.1:p.Ala179Val

Select item 142618742418.

rs1426187424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:112265061 (GRCh38)
4:113186217 (GRCh37)
Canonical SPDI:: NC_000004.12:112265060:A:G,NC_000004.12:112265060:A:T
Gene:: AP1AR (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.112265061A>G, NC_000004.12:g.112265061A>T, NC_000004.11:g.113186217A>G, NC_000004.11:g.113186217A>T, NM_018569.6:c.434A>G, NM_018569.6:c.434A>T, NM_018569.5:c.434A>G, NM_018569.5:c.434A>T, NM_018569.4:c.434A>G, NM_018569.4:c.434A>T, NM_001128426.3:c.335A>G, NM_001128426.3:c.335A>T, NM_001128426.2:c.335A>G, NM_001128426.2:c.335A>T, NM_001128426.1:c.335A>G, NM_001128426.1:c.335A>T, NR_136622.2:n.735A>G, NR_136622.2:n.735A>T, NR_136622.1:n.783A>G, NR_136622.1:n.783A>T, XM_017008380.2:c.-47A>G, XM_017008380.2:c.-47A>T, XM_017008380.1:c.-47A>G, XM_017008380.1:c.-47A>T, XM_047415927.1:c.269A>G, XM_047415927.1:c.269A>T, XM_047415928.1:c.170A>G, XM_047415928.1:c.170A>T, NP_061039.3:p.Tyr145Cys, NP_061039.3:p.Tyr145Phe, NP_001121898.1:p.Tyr112Cys, NP_001121898.1:p.Tyr112Phe, XP_047271883.1:p.Tyr90Cys, XP_047271883.1:p.Tyr90Phe, XP_047271884.1:p.Tyr57Cys, XP_047271884.1:p.Tyr57Phe

Select item 142252285519.

rs1422522855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:112268223 (GRCh38)
4:113189379 (GRCh37)
Canonical SPDI:: NC_000004.12:112268222:C:A
Gene:: AP1AR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.112268223C>A, NC_000004.11:g.113189379C>A, NM_018569.6:c.723C>A, NM_018569.5:c.723C>A, NM_018569.4:c.723C>A, NM_001128426.3:c.624C>A, NM_001128426.2:c.624C>A, NM_001128426.1:c.624C>A, NR_136622.2:n.1024C>A, NR_136622.1:n.1072C>A, XM_017008380.2:c.243C>A, XM_017008380.1:c.243C>A, XM_047415927.1:c.558C>A, XM_047415928.1:c.459C>A, NP_061039.3:p.Asn241Lys, NP_001121898.1:p.Asn208Lys, XP_016863869.1:p.Asn81Lys, XP_047271883.1:p.Asn186Lys, XP_047271884.1:p.Asn153Lys

Select item 142212936420.

rs1422129364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:112266666 (GRCh38)
4:113187822 (GRCh37)
Canonical SPDI:: NC_000004.12:112266665:G:A,NC_000004.12:112266665:G:C
Gene:: AP1AR (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.112266666G>A, NC_000004.12:g.112266666G>C, NC_000004.11:g.113187822G>A, NC_000004.11:g.113187822G>C, NM_018569.6:c.593G>A, NM_018569.6:c.593G>C, NM_018569.5:c.593G>A, NM_018569.5:c.593G>C, NM_018569.4:c.593G>A, NM_018569.4:c.593G>C, NM_001128426.3:c.494G>A, NM_001128426.3:c.494G>C, NM_001128426.2:c.494G>A, NM_001128426.2:c.494G>C, NM_001128426.1:c.494G>A, NM_001128426.1:c.494G>C, NR_136622.2:n.894G>A, NR_136622.2:n.894G>C, NR_136622.1:n.942G>A, NR_136622.1:n.942G>C, XM_017008380.2:c.113G>A, XM_017008380.2:c.113G>C, XM_017008380.1:c.113G>A, XM_017008380.1:c.113G>C, XM_047415927.1:c.428G>A, XM_047415927.1:c.428G>C, XM_047415928.1:c.329G>A, XM_047415928.1:c.329G>C, NP_061039.3:p.Ser198Asn, NP_061039.3:p.Ser198Thr, NP_001121898.1:p.Ser165Asn, NP_001121898.1:p.Ser165Thr, XP_016863869.1:p.Ser38Asn, XP_016863869.1:p.Ser38Thr, XP_047271883.1:p.Ser143Asn, XP_047271883.1:p.Ser143Thr, XP_047271884.1:p.Ser110Asn, XP_047271884.1:p.Ser110Thr

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