SNP Links for Protein (Select 66082554) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 734

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Select item 14914615331.

rs1491461533 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:53327839 (GRCh38)
1:53793511 (GRCh37)
Canonical SPDI:: NC_000001.11:53327838:TG:
Gene:: LRP8 (Varview), LRP8-DT (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00167/220 (GnomAD)
-=0.002498/16 (1000Genomes)
-=0.003221/33 (ExAC)
-=0.014205/235 (TOMMO)
-=0.020208/35 (Korea1K)
-=0.032813/164 (GoESP)
HGVS:: NC_000001.11:g.53327839_53327840del, NC_000001.10:g.53793511_53793512del, NG_011517.2:g.5310_5311del, NM_004631.5:c.73_74del, NM_004631.4:c.73_74del, NM_017522.5:c.73_74del, NM_017522.4:c.73_74del, NM_033300.4:c.73_74del, NM_033300.3:c.73_74del, NM_001018054.3:c.73_74del, NM_001018054.2:c.73_74del, NP_004622.2:p.Gln25fs, NP_059992.3:p.Gln25fs, NP_150643.2:p.Gln25fs, NP_001018064.1:p.Gln25fs

Select item 14866751622.

rs1486675162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:53262111 (GRCh38)
1:53727783 (GRCh37)
Canonical SPDI:: NC_000001.11:53262110:G:A
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_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_000001.11:g.53262111G>A, NC_000001.10:g.53727783G>A, NG_011517.2:g.71039C>T, NM_004631.5:c.1871C>T, NM_004631.4:c.1871C>T, NM_017522.5:c.1484C>T, NM_017522.4:c.1484C>T, NM_033300.4:c.1361C>T, NM_033300.3:c.1361C>T, NM_001018054.3:c.1871C>T, NM_001018054.2:c.1871C>T, NP_004622.2:p.Ser624Phe, NP_059992.3:p.Ser495Phe, NP_150643.2:p.Ser454Phe, NP_001018064.1:p.Ser624Phe

Select item 14859255933.

rs1485925593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:53271077 (GRCh38)
1:53736749 (GRCh37)
Canonical SPDI:: NC_000001.11:53271076:G:A
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.53271077G>A, NC_000001.10:g.53736749G>A, NG_011517.2:g.62073C>T, NM_004631.5:c.1203C>T, NM_004631.4:c.1203C>T, NM_017522.5:c.816C>T, NM_017522.4:c.816C>T, NM_033300.4:c.693C>T, NM_033300.3:c.693C>T, NM_001018054.3:c.1203C>T, NM_001018054.2:c.1203C>T

Select item 14842448994.

rs1484244899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:53327845 (GRCh38)
1:53793517 (GRCh37)
Canonical SPDI:: NC_000001.11:53327844:A:C,NC_000001.11:53327844:A:T
Gene:: LRP8 (Varview), LRP8-DT (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00001/1 (GnomAD_exomes)
C=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.53327845A>C, NC_000001.11:g.53327845A>T, NC_000001.10:g.53793517A>C, NC_000001.10:g.53793517A>T, NG_011517.2:g.5305T>G, NG_011517.2:g.5305T>A, NM_004631.5:c.68T>G, NM_004631.5:c.68T>A, NM_004631.4:c.68T>G, NM_004631.4:c.68T>A, NM_017522.5:c.68T>G, NM_017522.5:c.68T>A, NM_017522.4:c.68T>G, NM_017522.4:c.68T>A, NM_033300.4:c.68T>G, NM_033300.4:c.68T>A, NM_033300.3:c.68T>G, NM_033300.3:c.68T>A, NM_001018054.3:c.68T>G, NM_001018054.3:c.68T>A, NM_001018054.2:c.68T>G, NM_001018054.2:c.68T>A, NP_004622.2:p.Leu23Arg, NP_004622.2:p.Leu23Gln, NP_059992.3:p.Leu23Arg, NP_059992.3:p.Leu23Gln, NP_150643.2:p.Leu23Arg, NP_150643.2:p.Leu23Gln, NP_001018064.1:p.Leu23Arg, NP_001018064.1:p.Leu23Gln

Select item 14832413545.

rs1483241354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:53257264 (GRCh38)
1:53722936 (GRCh37)
Canonical SPDI:: NC_000001.11:53257263:C:T
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.53257264C>T, NC_000001.10:g.53722936C>T, NG_011517.2:g.75886G>A, NM_004631.5:c.2410G>A, NM_004631.4:c.2410G>A, NM_033300.4:c.1900G>A, NM_033300.3:c.1900G>A, NM_001018054.3:c.2410G>A, NM_001018054.2:c.2410G>A, NP_004622.2:p.Ala804Thr, NP_150643.2:p.Ala634Thr, NP_001018064.1:p.Ala804Thr

Select item 14831312706.

rs1483131270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:53326958 (GRCh38)
1:53792630 (GRCh37)
Canonical SPDI:: NC_000001.11:53326957:C:G
Gene:: LRP8 (Varview), LRP8-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.53326958C>G, NC_000001.10:g.53792630C>G, NG_011517.2:g.6192G>C, NM_004631.5:c.159G>C, NM_004631.4:c.159G>C, NM_017522.5:c.159G>C, NM_017522.4:c.159G>C, NM_033300.4:c.159G>C, NM_033300.3:c.159G>C, NM_001018054.3:c.159G>C, NM_001018054.2:c.159G>C, NG_076333.1:g.302C>G, NP_004622.2:p.Gln53His, NP_059992.3:p.Gln53His, NP_150643.2:p.Gln53His, NP_001018064.1:p.Gln53His

Select item 14829510757.

rs1482951075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:53260556 (GRCh38)
1:53726228 (GRCh37)
Canonical SPDI:: NC_000001.11:53260555:T:G
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.53260556T>G, NC_000001.10:g.53726228T>G, NG_011517.2:g.72594A>C, NM_004631.5:c.1964A>C, NM_004631.4:c.1964A>C, NM_017522.5:c.1577A>C, NM_017522.4:c.1577A>C, NM_033300.4:c.1454A>C, NM_033300.3:c.1454A>C, NM_001018054.3:c.1964A>C, NM_001018054.2:c.1964A>C, NP_004622.2:p.Asn655Thr, NP_059992.3:p.Asn526Thr, NP_150643.2:p.Asn485Thr, NP_001018064.1:p.Asn655Thr

Select item 14819089308.

rs1481908930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:53250709 (GRCh38)
1:53716381 (GRCh37)
Canonical SPDI:: NC_000001.11:53250708:A:G
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
G=0.000566/9 (TOMMO)
HGVS:: NC_000001.11:g.53250709A>G, NC_000001.10:g.53716381A>G, NG_011517.2:g.82441T>C, NM_004631.5:c.2657T>C, NM_004631.4:c.2657T>C, NM_017522.5:c.2045T>C, NM_017522.4:c.2045T>C, NM_033300.4:c.2147T>C, NM_033300.3:c.2147T>C, NM_001018054.3:c.2657T>C, NM_001018054.2:c.2657T>C, NP_004622.2:p.Ile886Thr, NP_059992.3:p.Ile682Thr, NP_150643.2:p.Ile716Thr, NP_001018064.1:p.Ile886Thr

Select item 14816113779.

rs1481611377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:53249443 (GRCh38)
1:53715115 (GRCh37)
Canonical SPDI:: NC_000001.11:53249442:T:C
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.53249443T>C, NC_000001.10:g.53715115T>C, NG_011517.2:g.83707A>G, NM_004631.5:c.2790A>G, NM_004631.4:c.2790A>G, NM_033300.4:c.2280A>G, NM_033300.3:c.2280A>G

Select item 148017919510.

rs1480179195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:53258402 (GRCh38)
1:53724074 (GRCh37)
Canonical SPDI:: NC_000001.11:53258401:T:G
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.53258402T>G, NC_000001.10:g.53724074T>G, NG_011517.2:g.74748A>C, NM_004631.5:c.2126A>C, NM_004631.4:c.2126A>C, NM_017522.5:c.1739A>C, NM_017522.4:c.1739A>C, NM_033300.4:c.1616A>C, NM_033300.3:c.1616A>C, NM_001018054.3:c.2126A>C, NM_001018054.2:c.2126A>C, NP_004622.2:p.Gln709Pro, NP_059992.3:p.Gln580Pro, NP_150643.2:p.Gln539Pro, NP_001018064.1:p.Gln709Pro

Select item 147893935511.

rs1478939355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:53271312 (GRCh38)
1:53736984 (GRCh37)
Canonical SPDI:: NC_000001.11:53271311:G:A
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.53271312G>A, NC_000001.10:g.53736984G>A, NG_011517.2:g.61838C>T, NM_004631.5:c.1041C>T, NM_004631.4:c.1041C>T, NM_017522.5:c.654C>T, NM_017522.4:c.654C>T, NM_033300.4:c.531C>T, NM_033300.3:c.531C>T, NM_001018054.3:c.1041C>T, NM_001018054.2:c.1041C>T

Select item 147883993912.

rs1478839939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:53264323 (GRCh38)
1:53729995 (GRCh37)
Canonical SPDI:: NC_000001.11:53264322:C:T
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.53264323C>T, NC_000001.10:g.53729995C>T, NG_011517.2:g.68827G>A, NM_004631.5:c.1501G>A, NM_004631.4:c.1501G>A, NM_017522.5:c.1114G>A, NM_017522.4:c.1114G>A, NM_033300.4:c.991G>A, NM_033300.3:c.991G>A, NM_001018054.3:c.1501G>A, NM_001018054.2:c.1501G>A, NP_004622.2:p.Gly501Ser, NP_059992.3:p.Gly372Ser, NP_150643.2:p.Gly331Ser, NP_001018064.1:p.Gly501Ser

Select item 147861359413.

rs1478613594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:53258434 (GRCh38)
1:53724106 (GRCh37)
Canonical SPDI:: NC_000001.11:53258433:T:A
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.53258434T>A, NC_000001.10:g.53724106T>A, NG_011517.2:g.74716A>T, NM_004631.5:c.2094A>T, NM_004631.4:c.2094A>T, NM_017522.5:c.1707A>T, NM_017522.4:c.1707A>T, NM_033300.4:c.1584A>T, NM_033300.3:c.1584A>T, NM_001018054.3:c.2094A>T, NM_001018054.2:c.2094A>T

Select item 147821286314.

rs1478212863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:53260523 (GRCh38)
1:53726195 (GRCh37)
Canonical SPDI:: NC_000001.11:53260522:G:T
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.53260523G>T, NC_000001.10:g.53726195G>T, NG_011517.2:g.72627C>A, NM_004631.5:c.1997C>A, NM_004631.4:c.1997C>A, NM_017522.5:c.1610C>A, NM_017522.4:c.1610C>A, NM_033300.4:c.1487C>A, NM_033300.3:c.1487C>A, NM_001018054.3:c.1997C>A, NM_001018054.2:c.1997C>A, NP_004622.2:p.Ala666Asp, NP_059992.3:p.Ala537Asp, NP_150643.2:p.Ala496Asp, NP_001018064.1:p.Ala666Asp

Select item 147744760815.

rs1477447608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:53250715 (GRCh38)
1:53716387 (GRCh37)
Canonical SPDI:: NC_000001.11:53250714:G:A
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.53250715G>A, NC_000001.10:g.53716387G>A, NG_011517.2:g.82435C>T, NM_004631.5:c.2651C>T, NM_004631.4:c.2651C>T, NM_017522.5:c.2039C>T, NM_017522.4:c.2039C>T, NM_033300.4:c.2141C>T, NM_033300.3:c.2141C>T, NM_001018054.3:c.2651C>T, NM_001018054.2:c.2651C>T, NP_004622.2:p.Ala884Val, NP_059992.3:p.Ala680Val, NP_150643.2:p.Ala714Val, NP_001018064.1:p.Ala884Val

Select item 147686530616.

rs1476865306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:53260550 (GRCh38)
1:53726222 (GRCh37)
Canonical SPDI:: NC_000001.11:53260549:A:G
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.53260550A>G, NC_000001.10:g.53726222A>G, NG_011517.2:g.72600T>C, NM_004631.5:c.1970T>C, NM_004631.4:c.1970T>C, NM_017522.5:c.1583T>C, NM_017522.4:c.1583T>C, NM_033300.4:c.1460T>C, NM_033300.3:c.1460T>C, NM_001018054.3:c.1970T>C, NM_001018054.2:c.1970T>C, NP_004622.2:p.Leu657Pro, NP_059992.3:p.Leu528Pro, NP_150643.2:p.Leu487Pro, NP_001018064.1:p.Leu657Pro

Select item 147579493717.

rs1475794937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:53262501 (GRCh38)
1:53728173 (GRCh37)
Canonical SPDI:: NC_000001.11:53262500:C:G,NC_000001.11:53262500:C:T
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.53262501C>G, NC_000001.11:g.53262501C>T, NC_000001.10:g.53728173C>G, NC_000001.10:g.53728173C>T, NG_011517.2:g.70649G>C, NG_011517.2:g.70649G>A, NM_004631.5:c.1719G>C, NM_004631.5:c.1719G>A, NM_004631.4:c.1719G>C, NM_004631.4:c.1719G>A, NM_017522.5:c.1332G>C, NM_017522.5:c.1332G>A, NM_017522.4:c.1332G>C, NM_017522.4:c.1332G>A, NM_033300.4:c.1209G>C, NM_033300.4:c.1209G>A, NM_033300.3:c.1209G>C, NM_033300.3:c.1209G>A, NM_001018054.3:c.1719G>C, NM_001018054.3:c.1719G>A, NM_001018054.2:c.1719G>C, NM_001018054.2:c.1719G>A

Select item 147536196218.

rs1475361962 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGC>-,TGCTGC [Show Flanks]
Chromosome:: 1:53327839 (GRCh38)
1:53793511 (GRCh37)
Canonical SPDI:: NC_000001.11:53327836:GCTGC:GC,NC_000001.11:53327836:GCTGC:GCTGCTGC
Gene:: LRP8 (Varview), LRP8-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,inframe_deletion,coding_sequence_variant,upstream_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0.00067/8 (ALFA)
GCT=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.53327839_53327841del, NC_000001.11:g.53327839_53327841dup, NC_000001.10:g.53793511_53793513del, NC_000001.10:g.53793511_53793513dup, NG_011517.2:g.5311_5313del, NG_011517.2:g.5311_5313dup, NM_004631.5:c.74_76del, NM_004631.5:c.74_76dup, NM_004631.4:c.74_76del, NM_004631.4:c.74_76dup, NM_017522.5:c.74_76del, NM_017522.5:c.74_76dup, NM_017522.4:c.74_76del, NM_017522.4:c.74_76dup, NM_033300.4:c.74_76del, NM_033300.4:c.74_76dup, NM_033300.3:c.74_76del, NM_033300.3:c.74_76dup, NM_001018054.3:c.74_76del, NM_001018054.3:c.74_76dup, NM_001018054.2:c.74_76del, NM_001018054.2:c.74_76dup, NP_004622.2:p.Gln25del, NP_004622.2:p.Gln25dup, NP_059992.3:p.Gln25del, NP_059992.3:p.Gln25dup, NP_150643.2:p.Gln25del, NP_150643.2:p.Gln25dup, NP_001018064.1:p.Gln25del, NP_001018064.1:p.Gln25dup

Select item 147494713819.

rs1474947138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:53249526 (GRCh38)
1:53715198 (GRCh37)
Canonical SPDI:: NC_000001.11:53249525:C:A,NC_000001.11:53249525:C:T
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.53249526C>A, NC_000001.11:g.53249526C>T, NC_000001.10:g.53715198C>A, NC_000001.10:g.53715198C>T, NG_011517.2:g.83624G>T, NG_011517.2:g.83624G>A, NM_004631.5:c.2707G>T, NM_004631.5:c.2707G>A, NM_004631.4:c.2707G>T, NM_004631.4:c.2707G>A, NM_033300.4:c.2197G>T, NM_033300.4:c.2197G>A, NM_033300.3:c.2197G>T, NM_033300.3:c.2197G>A, NP_004622.2:p.Ala903Ser, NP_004622.2:p.Ala903Thr, NP_150643.2:p.Ala733Ser, NP_150643.2:p.Ala733Thr

Select item 147492915220.

rs1474929152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:53327848 (GRCh38)
1:53793520 (GRCh37)
Canonical SPDI:: NC_000001.11:53327847:A:C,NC_000001.11:53327847:A:T
Gene:: LRP8 (Varview), LRP8-DT (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.53327848A>C, NC_000001.11:g.53327848A>T, NC_000001.10:g.53793520A>C, NC_000001.10:g.53793520A>T, NG_011517.2:g.5302T>G, NG_011517.2:g.5302T>A, NM_004631.5:c.65T>G, NM_004631.5:c.65T>A, NM_004631.4:c.65T>G, NM_004631.4:c.65T>A, NM_017522.5:c.65T>G, NM_017522.5:c.65T>A, NM_017522.4:c.65T>G, NM_017522.4:c.65T>A, NM_033300.4:c.65T>G, NM_033300.4:c.65T>A, NM_033300.3:c.65T>G, NM_033300.3:c.65T>A, NM_001018054.3:c.65T>G, NM_001018054.3:c.65T>A, NM_001018054.2:c.65T>G, NM_001018054.2:c.65T>A, NP_004622.2:p.Leu22Arg, NP_004622.2:p.Leu22Gln, NP_059992.3:p.Leu22Arg, NP_059992.3:p.Leu22Gln, NP_150643.2:p.Leu22Arg, NP_150643.2:p.Leu22Gln, NP_001018064.1:p.Leu22Arg, NP_001018064.1:p.Leu22Gln

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