SNP Links for Protein (Select 667477995) - SNP

Links from Protein

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Select item 14874753701.

rs1487475370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38041089 (GRCh38)
22:38437096 (GRCh37)
Canonical SPDI:: NC_000022.11:38041088:G:A
Gene:: POLR2F (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.38041089G>A, NC_000022.10:g.38437096G>A, NM_001301130.2:c.474G>A, NM_001301130.1:c.474G>A, NM_001301131.2:c.315G>A, NM_001301131.1:c.315G>A, NM_001363825.1:c.*60G>A

Select item 14675787522.

rs1467578752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37956818 (GRCh38)
22:38352825 (GRCh37)
Canonical SPDI:: NC_000022.11:37956817:A:G
Gene:: POLR2F (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37956818A>G, NC_000022.10:g.38352825A>G, NM_021974.5:c.66A>G, NM_021974.4:c.66A>G, NM_021974.3:c.66A>G, NM_001301129.2:c.-60A>G, NM_001301129.1:c.-60A>G, NR_125371.2:n.155A>G, NR_125371.1:n.191A>G, NM_001301130.2:c.66A>G, NM_001301130.1:c.66A>G, NM_001301131.2:c.66A>G, NM_001301131.1:c.66A>G, NM_001363825.1:c.66A>G

Select item 14439394193.

rs1443939419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:37967134 (GRCh38)
22:38363141 (GRCh37)
Canonical SPDI:: NC_000022.11:37967133:A:T
Gene:: POLR2F (Varview), MIR6820 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37967134A>T, NC_000022.10:g.38363141A>T, NM_021974.5:c.257A>T, NM_021974.4:c.257A>T, NM_021974.3:c.257A>T, NM_001301129.2:c.230A>T, NM_001301129.1:c.230A>T, NR_125371.2:n.405A>T, NR_125371.1:n.441A>T, NM_001301130.2:c.257A>T, NM_001301130.1:c.257A>T, NM_001301131.2:c.257A>T, NM_001301131.1:c.257A>T, NM_001363825.1:c.257A>T, NP_068809.1:p.Glu86Val, NP_001288058.1:p.Glu77Val, NP_001288059.1:p.Glu86Val, NP_001288060.1:p.Glu86Val, NP_001350754.1:p.Glu86Val

Select item 14353209604.

rs1435320960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:38041090 (GRCh38)
22:38437097 (GRCh37)
Canonical SPDI:: NC_000022.11:38041089:T:C
Gene:: POLR2F (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,stop_lost,terminator_codon_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38041090T>C, NC_000022.10:g.38437097T>C, NM_001301130.2:c.475T>C, NM_001301130.1:c.475T>C, NM_001301131.2:c.316T>C, NM_001301131.1:c.316T>C, NM_001363825.1:c.*61T>C, NP_001288059.1:p.Ter159Arg, NP_001288060.1:p.Ter106Arg

Select item 14287033245.

rs1428703324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37959445 (GRCh38)
22:38355452 (GRCh37)
Canonical SPDI:: NC_000022.11:37959444:C:T
Gene:: POLR2F (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37959445C>T, NC_000022.10:g.38355452C>T, NM_021974.5:c.190C>T, NM_021974.4:c.190C>T, NM_021974.3:c.190C>T, NM_001301129.2:c.163C>T, NM_001301129.1:c.163C>T, NR_125371.2:n.338C>T, NR_125371.1:n.374C>T, NM_001301130.2:c.190C>T, NM_001301130.1:c.190C>T, NM_001301131.2:c.190C>T, NM_001301131.1:c.190C>T, NM_001363825.1:c.190C>T, NP_068809.1:p.Arg64Cys, NP_001288058.1:p.Arg55Cys, NP_001288059.1:p.Arg64Cys, NP_001288060.1:p.Arg64Cys, NP_001350754.1:p.Arg64Cys

Select item 14286547406.

rs1428654740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37967157 (GRCh38)
22:38363164 (GRCh37)
Canonical SPDI:: NC_000022.11:37967156:A:G
Gene:: POLR2F (Varview), MIR6820 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000546/1 (Korea1K)
G=0.001711/5 (KOREAN)
HGVS:: NC_000022.11:g.37967157A>G, NC_000022.10:g.38363164A>G, NM_021974.5:c.280A>G, NM_021974.4:c.280A>G, NM_021974.3:c.280A>G, NM_001301129.2:c.253A>G, NM_001301129.1:c.253A>G, NR_125371.2:n.428A>G, NR_125371.1:n.464A>G, NM_001301130.2:c.280A>G, NM_001301130.1:c.280A>G, NM_001301131.2:c.280A>G, NM_001301131.1:c.280A>G, NM_001363825.1:c.280A>G, NP_068809.1:p.Met94Val, NP_001288058.1:p.Met85Val, NP_001288059.1:p.Met94Val, NP_001288060.1:p.Met94Val, NP_001350754.1:p.Met94Val

Select item 14237338747.

rs1423733874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:37956814 (GRCh38)
22:38352821 (GRCh37)
Canonical SPDI:: NC_000022.11:37956813:G:T
Gene:: POLR2F (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37956814G>T, NC_000022.10:g.38352821G>T, NM_021974.5:c.62G>T, NM_021974.4:c.62G>T, NM_021974.3:c.62G>T, NM_001301129.2:c.-64G>T, NM_001301129.1:c.-64G>T, NR_125371.2:n.151G>T, NR_125371.1:n.187G>T, NM_001301130.2:c.62G>T, NM_001301130.1:c.62G>T, NM_001301131.2:c.62G>T, NM_001301131.1:c.62G>T, NM_001363825.1:c.62G>T, NP_068809.1:p.Gly21Val, NP_001288059.1:p.Gly21Val, NP_001288060.1:p.Gly21Val, NP_001350754.1:p.Gly21Val

Select item 14202512788.

rs1420251278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37956804 (GRCh38)
22:38352811 (GRCh37)
Canonical SPDI:: NC_000022.11:37956803:G:A
Gene:: POLR2F (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.37956804G>A, NC_000022.10:g.38352811G>A, NM_021974.5:c.52G>A, NM_021974.4:c.52G>A, NM_021974.3:c.52G>A, NM_001301129.2:c.-74G>A, NM_001301129.1:c.-74G>A, NR_125371.2:n.141G>A, NR_125371.1:n.177G>A, NM_001301130.2:c.52G>A, NM_001301130.1:c.52G>A, NM_001301131.2:c.52G>A, NM_001301131.1:c.52G>A, NM_001363825.1:c.52G>A, NP_068809.1:p.Glu18Lys, NP_001288059.1:p.Glu18Lys, NP_001288060.1:p.Glu18Lys, NP_001350754.1:p.Glu18Lys

Select item 14197580669.

rs1419758066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37967138 (GRCh38)
22:38363145 (GRCh37)
Canonical SPDI:: NC_000022.11:37967137:A:G
Gene:: POLR2F (Varview), MIR6820 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37967138A>G, NC_000022.10:g.38363145A>G, NM_021974.5:c.261A>G, NM_021974.4:c.261A>G, NM_021974.3:c.261A>G, NM_001301129.2:c.234A>G, NM_001301129.1:c.234A>G, NR_125371.2:n.409A>G, NR_125371.1:n.445A>G, NM_001301130.2:c.261A>G, NM_001301130.1:c.261A>G, NM_001301131.2:c.261A>G, NM_001301131.1:c.261A>G, NM_001363825.1:c.261A>G

Select item 138627473310.

rs1386274733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37956839 (GRCh38)
22:38352846 (GRCh37)
Canonical SPDI:: NC_000022.11:37956838:A:G
Gene:: POLR2F (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.37956839A>G, NC_000022.10:g.38352846A>G, NM_021974.5:c.87A>G, NM_021974.4:c.87A>G, NM_021974.3:c.87A>G, NM_001301129.2:c.-39A>G, NM_001301129.1:c.-39A>G, NR_125371.2:n.176A>G, NR_125371.1:n.212A>G, NM_001301130.2:c.87A>G, NM_001301130.1:c.87A>G, NM_001301131.2:c.87A>G, NM_001301131.1:c.87A>G, NM_001363825.1:c.87A>G

Select item 136611031611.

rs1366110316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37967143 (GRCh38)
22:38363150 (GRCh37)
Canonical SPDI:: NC_000022.11:37967142:C:T
Gene:: POLR2F (Varview), MIR6820 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37967143C>T, NC_000022.10:g.38363150C>T, NM_021974.5:c.266C>T, NM_021974.4:c.266C>T, NM_021974.3:c.266C>T, NM_001301129.2:c.239C>T, NM_001301129.1:c.239C>T, NR_125371.2:n.414C>T, NR_125371.1:n.450C>T, NM_001301130.2:c.266C>T, NM_001301130.1:c.266C>T, NM_001301131.2:c.266C>T, NM_001301131.1:c.266C>T, NM_001363825.1:c.266C>T, NP_068809.1:p.Pro89Leu, NP_001288058.1:p.Pro80Leu, NP_001288059.1:p.Pro89Leu, NP_001288060.1:p.Pro89Leu, NP_001350754.1:p.Pro89Leu

Select item 136069039412.

rs1360690394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:38041082 (GRCh38)
22:38437089 (GRCh37)
Canonical SPDI:: NC_000022.11:38041081:G:C
Gene:: POLR2F (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38041082G>C, NC_000022.10:g.38437089G>C, NM_001301130.2:c.467G>C, NM_001301130.1:c.467G>C, NM_001301131.2:c.308G>C, NM_001301131.1:c.308G>C, NM_001363825.1:c.*53G>C, NP_001288059.1:p.Arg156Thr, NP_001288060.1:p.Arg103Thr

Select item 135802120313.

rs1358021203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37953803 (GRCh38)
22:38349810 (GRCh37)
Canonical SPDI:: NC_000022.11:37953802:G:A
Gene:: POLR2F (Varview), C22orf23 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37953803G>A, NC_000022.10:g.38349810G>A, NM_021974.5:c.16G>A, NM_021974.4:c.16G>A, NM_021974.3:c.16G>A, NM_001301129.2:c.-110G>A, NM_001301129.1:c.-110G>A, NR_125371.2:n.105G>A, NR_125371.1:n.141G>A, NM_001301130.2:c.16G>A, NM_001301130.1:c.16G>A, NM_001301131.2:c.16G>A, NM_001301131.1:c.16G>A, NM_001363825.1:c.16G>A, NP_068809.1:p.Asp6Asn, NP_001288059.1:p.Asp6Asn, NP_001288060.1:p.Asp6Asn, NP_001350754.1:p.Asp6Asn

Select item 134261705814.

rs1342617058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37967155 (GRCh38)
22:38363162 (GRCh37)
Canonical SPDI:: NC_000022.11:37967154:C:T
Gene:: POLR2F (Varview), MIR6820 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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_000022.11:g.37967155C>T, NC_000022.10:g.38363162C>T, NM_021974.5:c.278C>T, NM_021974.4:c.278C>T, NM_021974.3:c.278C>T, NM_001301129.2:c.251C>T, NM_001301129.1:c.251C>T, NR_125371.2:n.426C>T, NR_125371.1:n.462C>T, NM_001301130.2:c.278C>T, NM_001301130.1:c.278C>T, NM_001301131.2:c.278C>T, NM_001301131.1:c.278C>T, NM_001363825.1:c.278C>T, NP_068809.1:p.Ala93Val, NP_001288058.1:p.Ala84Val, NP_001288059.1:p.Ala93Val, NP_001288060.1:p.Ala93Val, NP_001350754.1:p.Ala93Val

Select item 131403049815.

rs1314030498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37953806 (GRCh38)
22:38349813 (GRCh37)
Canonical SPDI:: NC_000022.11:37953805:A:G
Gene:: POLR2F (Varview), C22orf23 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37953806A>G, NC_000022.10:g.38349813A>G, NM_021974.5:c.19A>G, NM_021974.4:c.19A>G, NM_021974.3:c.19A>G, NM_001301129.2:c.-107A>G, NM_001301129.1:c.-107A>G, NR_125371.2:n.108A>G, NR_125371.1:n.144A>G, NM_001301130.2:c.19A>G, NM_001301130.1:c.19A>G, NM_001301131.2:c.19A>G, NM_001301131.1:c.19A>G, NM_001363825.1:c.19A>G, NP_068809.1:p.Asn7Asp, NP_001288059.1:p.Asn7Asp, NP_001288060.1:p.Asn7Asp, NP_001350754.1:p.Asn7Asp

Select item 131325879616.

rs1313258796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37967117 (GRCh38)
22:38363124 (GRCh37)
Canonical SPDI:: NC_000022.11:37967116:G:A
Gene:: POLR2F (Varview), MIR6820 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_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_000022.11:g.37967117G>A, NC_000022.10:g.38363124G>A, NM_021974.5:c.240G>A, NM_021974.4:c.240G>A, NM_021974.3:c.240G>A, NM_001301129.2:c.213G>A, NM_001301129.1:c.213G>A, NR_125371.2:n.388G>A, NR_125371.1:n.424G>A, NM_001301130.2:c.240G>A, NM_001301130.1:c.240G>A, NM_001301131.2:c.240G>A, NM_001301131.1:c.240G>A, NM_001363825.1:c.240G>A, NP_068809.1:p.Met80Ile, NP_001288058.1:p.Met71Ile, NP_001288059.1:p.Met80Ile, NP_001288060.1:p.Met80Ile, NP_001350754.1:p.Met80Ile

Select item 129547727617.

rs1295477276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37956836 (GRCh38)
22:38352843 (GRCh37)
Canonical SPDI:: NC_000022.11:37956835:C:T
Gene:: POLR2F (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000022.11:g.37956836C>T, NC_000022.10:g.38352843C>T, NM_021974.5:c.84C>T, NM_021974.4:c.84C>T, NM_021974.3:c.84C>T, NM_001301129.2:c.-42C>T, NM_001301129.1:c.-42C>T, NR_125371.2:n.173C>T, NR_125371.1:n.209C>T, NM_001301130.2:c.84C>T, NM_001301130.1:c.84C>T, NM_001301131.2:c.84C>T, NM_001301131.1:c.84C>T, NM_001363825.1:c.84C>T

Select item 128073276018.

rs1280732760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37959466 (GRCh38)
22:38355473 (GRCh37)
Canonical SPDI:: NC_000022.11:37959465:C:T
Gene:: POLR2F (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37959466C>T, NC_000022.10:g.38355473C>T, NM_021974.5:c.211C>T, NM_021974.4:c.211C>T, NM_021974.3:c.211C>T, NM_001301129.2:c.184C>T, NM_001301129.1:c.184C>T, NR_125371.2:n.359C>T, NR_125371.1:n.395C>T, NM_001301130.2:c.211C>T, NM_001301130.1:c.211C>T, NM_001301131.2:c.211C>T, NM_001301131.1:c.211C>T, NM_001363825.1:c.211C>T, NP_068809.1:p.Leu71Phe, NP_001288058.1:p.Leu62Phe, NP_001288059.1:p.Leu71Phe, NP_001288060.1:p.Leu71Phe, NP_001350754.1:p.Leu71Phe

Select item 126367864719.

rs1263678647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37959460 (GRCh38)
22:38355467 (GRCh37)
Canonical SPDI:: NC_000022.11:37959459:C:T
Gene:: POLR2F (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000022.11:g.37959460C>T, NC_000022.10:g.38355467C>T, NM_021974.5:c.205C>T, NM_021974.4:c.205C>T, NM_021974.3:c.205C>T, NM_001301129.2:c.178C>T, NM_001301129.1:c.178C>T, NR_125371.2:n.353C>T, NR_125371.1:n.389C>T, NM_001301130.2:c.205C>T, NM_001301130.1:c.205C>T, NM_001301131.2:c.205C>T, NM_001301131.1:c.205C>T, NM_001363825.1:c.205C>T, NP_068809.1:p.Arg69Ter, NP_001288058.1:p.Arg60Ter, NP_001288059.1:p.Arg69Ter, NP_001288060.1:p.Arg69Ter, NP_001350754.1:p.Arg69Ter

Select item 126114067520.

rs1261140675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:37967101 (GRCh38)
22:38363108 (GRCh37)
Canonical SPDI:: NC_000022.11:37967100:T:C
Gene:: POLR2F (Varview), MIR6820 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.37967101T>C, NC_000022.10:g.38363108T>C, NM_021974.5:c.224T>C, NM_021974.4:c.224T>C, NM_021974.3:c.224T>C, NM_001301129.2:c.197T>C, NM_001301129.1:c.197T>C, NR_125371.2:n.372T>C, NR_125371.1:n.408T>C, NM_001301130.2:c.224T>C, NM_001301130.1:c.224T>C, NM_001301131.2:c.224T>C, NM_001301131.1:c.224T>C, NM_001363825.1:c.224T>C, NP_068809.1:p.Met75Thr, NP_001288058.1:p.Met66Thr, NP_001288059.1:p.Met75Thr, NP_001288060.1:p.Met75Thr, NP_001350754.1:p.Met75Thr

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