SNP Links for Protein (Select 309243119) - SNP

Links from Protein

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Select item 14858948291.

rs1485894829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:9688032 (GRCh38)
12:9840628 (GRCh37)
Canonical SPDI:: NC_000012.12:9688031:G:A
Gene:: CLEC2D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9688032G>A, NC_000012.11:g.9840628G>A, NM_013269.6:c.303G>A, NM_013269.5:c.303G>A, NM_001004419.5:c.303G>A, NM_001004419.4:c.303G>A, NR_036693.3:n.325G>A, NR_036693.2:n.330G>A, NM_001197318.3:c.303G>A, NM_001197318.2:c.303G>A, NM_001197317.3:c.192G>A, NM_001197317.2:c.192G>A, NM_001197319.3:c.192G>A, NM_001197319.2:c.192G>A, NM_001004420.1:c.303G>A

Select item 14709922902.

rs1470992290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9669771 (GRCh38)
12:9822367 (GRCh37)
Canonical SPDI:: NC_000012.12:9669770:C:T
Gene:: CLEC2D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.9669771C>T, NC_000012.11:g.9822367C>T, NM_013269.6:c.37C>T, NM_013269.5:c.37C>T, NM_001004419.5:c.37C>T, NM_001004419.4:c.37C>T, NR_036693.3:n.59C>T, NR_036693.2:n.64C>T, NM_001197318.3:c.37C>T, NM_001197318.2:c.37C>T, NM_001197317.3:c.37C>T, NM_001197317.2:c.37C>T, NM_001197319.3:c.37C>T, NM_001197319.2:c.37C>T, NM_001004420.1:c.37C>T, NP_037401.1:p.Pro13Ser, NP_001004419.1:p.Pro13Ser, NP_001184247.1:p.Pro13Ser, NP_001184246.1:p.Pro13Ser, NP_001184248.1:p.Pro13Ser

Select item 14699765323.

rs1469976532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9692868 (GRCh38)
12:9845464 (GRCh37)
Canonical SPDI:: NC_000012.12:9692867:T:C
Gene:: CLEC2D (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.9692868T>C, NC_000012.11:g.9845464T>C, NM_013269.6:c.398T>C, NM_013269.5:c.398T>C, NM_001004419.5:c.398T>C, NM_001004419.4:c.398T>C, NM_001197317.3:c.287T>C, NM_001197317.2:c.287T>C, NM_001004420.1:c.*104T>C, NP_037401.1:p.Ile133Thr, NP_001004419.1:p.Ile133Thr, NP_001184246.1:p.Ile96Thr

Select item 14654938934.

rs1465493893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:9694874 (GRCh38)
12:9847470 (GRCh37)
Canonical SPDI:: NC_000012.12:9694873:G:C
Gene:: CLEC2D (Varview)
Functional Consequence:: non_coding_transcript_variant,terminator_codon_variant,stop_lost,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.9694874G>C, NC_000012.11:g.9847470G>C, NM_013269.6:c.576G>C, NM_013269.5:c.576G>C, NM_001004419.5:c.*73G>C, NM_001004419.4:c.*73G>C, NR_036693.3:n.569G>C, NR_036693.2:n.574G>C, NM_001197318.3:c.*73G>C, NM_001197318.2:c.*73G>C, NM_001197317.3:c.465G>C, NM_001197317.2:c.465G>C, NM_001197319.3:c.*73G>C, NM_001197319.2:c.*73G>C, NM_001004420.1:c.*282G>C, NP_037401.1:p.Ter192Tyr, NP_001184246.1:p.Ter155Tyr

Select item 14578360055.

rs1457836005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9687939 (GRCh38)
12:9840535 (GRCh37)
Canonical SPDI:: NC_000012.12:9687938:T:C
Gene:: CLEC2D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9687939T>C, NC_000012.11:g.9840535T>C, NM_013269.6:c.210T>C, NM_013269.5:c.210T>C, NM_001004419.5:c.210T>C, NM_001004419.4:c.210T>C, NR_036693.3:n.232T>C, NR_036693.2:n.237T>C, NM_001197318.3:c.210T>C, NM_001197318.2:c.210T>C, NM_001197317.3:c.99T>C, NM_001197317.2:c.99T>C, NM_001197319.3:c.99T>C, NM_001197319.2:c.99T>C, NM_001004420.1:c.210T>C

Select item 14503557416.

rs1450355741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9694826 (GRCh38)
12:9847422 (GRCh37)
Canonical SPDI:: NC_000012.12:9694825:C:T
Gene:: CLEC2D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.9694826C>T, NC_000012.11:g.9847422C>T, NM_013269.6:c.528C>T, NM_013269.5:c.528C>T, NM_001004419.5:c.*25C>T, NM_001004419.4:c.*25C>T, NR_036693.3:n.521C>T, NR_036693.2:n.526C>T, NM_001197318.3:c.*25C>T, NM_001197318.2:c.*25C>T, NM_001197317.3:c.417C>T, NM_001197317.2:c.417C>T, NM_001197319.3:c.*25C>T, NM_001197319.2:c.*25C>T, NM_001004420.1:c.*234C>T

Select item 14468205067.

rs1446820506 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:9694784 (GRCh38)
12:9847380 (GRCh37)
Canonical SPDI:: NC_000012.12:9694783:G:
Gene:: CLEC2D (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.9694784del, NC_000012.11:g.9847380del, NM_013269.6:c.486del, NM_013269.5:c.486del, NM_001004419.5:c.568del, NM_001004419.4:c.568del, NR_036693.3:n.479del, NR_036693.2:n.484del, NM_001197318.3:c.382del, NM_001197318.2:c.382del, NM_001197317.3:c.375del, NM_001197317.2:c.375del, NM_001197319.3:c.271del, NM_001197319.2:c.271del, NM_001004420.1:c.*192del, NP_037401.1:p.Glu162fs, NP_001004419.1:p.Val190fs, NP_001184247.1:p.Val128fs, NP_001184246.1:p.Glu125fs, NP_001184248.1:p.Val91fs

Select item 14436869168.

rs1443686916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:9687920 (GRCh38)
12:9840516 (GRCh37)
Canonical SPDI:: NC_000012.12:9687919:A:G
Gene:: CLEC2D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.9687920A>G, NC_000012.11:g.9840516A>G, NM_013269.6:c.191A>G, NM_013269.5:c.191A>G, NM_001004419.5:c.191A>G, NM_001004419.4:c.191A>G, NR_036693.3:n.213A>G, NR_036693.2:n.218A>G, NM_001197318.3:c.191A>G, NM_001197318.2:c.191A>G, NM_001197317.3:c.80A>G, NM_001197317.2:c.80A>G, NM_001197319.3:c.80A>G, NM_001197319.2:c.80A>G, NM_001004420.1:c.191A>G, NP_037401.1:p.His64Arg, NP_001004419.1:p.His64Arg, NP_001184247.1:p.His64Arg, NP_001184246.1:p.His27Arg, NP_001184248.1:p.His27Arg

Select item 14419709789.

rs1441970978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:9694822 (GRCh38)
12:9847418 (GRCh37)
Canonical SPDI:: NC_000012.12:9694821:G:A
Gene:: CLEC2D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.9694822G>A, NC_000012.11:g.9847418G>A, NM_013269.6:c.524G>A, NM_013269.5:c.524G>A, NM_001004419.5:c.*21G>A, NM_001004419.4:c.*21G>A, NR_036693.3:n.517G>A, NR_036693.2:n.522G>A, NM_001197318.3:c.*21G>A, NM_001197318.2:c.*21G>A, NM_001197317.3:c.413G>A, NM_001197317.2:c.413G>A, NM_001197319.3:c.*21G>A, NM_001197319.2:c.*21G>A, NM_001004420.1:c.*230G>A, NP_037401.1:p.Arg175Lys, NP_001184246.1:p.Arg138Lys

Select item 143920136610.

rs1439201366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:9687934 (GRCh38)
12:9840530 (GRCh37)
Canonical SPDI:: NC_000012.12:9687933:G:C
Gene:: CLEC2D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.9687934G>C, NC_000012.11:g.9840530G>C, NM_013269.6:c.205G>C, NM_013269.5:c.205G>C, NM_001004419.5:c.205G>C, NM_001004419.4:c.205G>C, NR_036693.3:n.227G>C, NR_036693.2:n.232G>C, NM_001197318.3:c.205G>C, NM_001197318.2:c.205G>C, NM_001197317.3:c.94G>C, NM_001197317.2:c.94G>C, NM_001197319.3:c.94G>C, NM_001197319.2:c.94G>C, NM_001004420.1:c.205G>C, NP_037401.1:p.Val69Leu, NP_001004419.1:p.Val69Leu, NP_001184247.1:p.Val69Leu, NP_001184246.1:p.Val32Leu, NP_001184248.1:p.Val32Leu

Select item 143816357011.

rs1438163570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9694794 (GRCh38)
12:9847390 (GRCh37)
Canonical SPDI:: NC_000012.12:9694793:T:C
Gene:: CLEC2D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9694794T>C, NC_000012.11:g.9847390T>C, NM_013269.6:c.496T>C, NM_013269.5:c.496T>C, NM_001004419.5:c.578T>C, NM_001004419.4:c.578T>C, NR_036693.3:n.489T>C, NR_036693.2:n.494T>C, NM_001197318.3:c.392T>C, NM_001197318.2:c.392T>C, NM_001197317.3:c.385T>C, NM_001197317.2:c.385T>C, NM_001197319.3:c.281T>C, NM_001197319.2:c.281T>C, NM_001004420.1:c.*202T>C, NP_001004419.1:p.Phe193Ser, NP_001184247.1:p.Phe131Ser, NP_001184248.1:p.Phe94Ser

Select item 143754424012.

rs1437544240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAAAGGCCCAT>- [Show Flanks]
Chromosome:: 12:9692844 (GRCh38)
12:9845440 (GRCh37)
Canonical SPDI:: NC_000012.12:9692841:ATATAAAGGCCCAT:AT
Gene:: CLEC2D (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9692844_9692855del, NC_000012.11:g.9845440_9845451del, NM_013269.6:c.374_385del, NM_013269.5:c.374_385del, NM_001004419.5:c.374_385del, NM_001004419.4:c.374_385del, NM_001197317.3:c.263_274del, NM_001197317.2:c.263_274del, NM_001004420.1:c.*80_*91del, NP_037401.1:p.Tyr125_Pro128del, NP_001004419.1:p.Tyr125_Pro128del, NP_001184246.1:p.Tyr88_Pro91del

Select item 141887614013.

rs1418876140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:9692902 (GRCh38)
12:9845498 (GRCh37)
Canonical SPDI:: NC_000012.12:9692901:A:G
Gene:: CLEC2D (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9692902A>G, NC_000012.11:g.9845498A>G, NM_013269.6:c.432A>G, NM_013269.5:c.432A>G, NM_001004419.5:c.432A>G, NM_001004419.4:c.432A>G, NM_001197317.3:c.321A>G, NM_001197317.2:c.321A>G, NM_001004420.1:c.*138A>G

Select item 141712773514.

rs1417127735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:9688018 (GRCh38)
12:9840614 (GRCh37)
Canonical SPDI:: NC_000012.12:9688017:A:T
Gene:: CLEC2D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9688018A>T, NC_000012.11:g.9840614A>T, NM_013269.6:c.289A>T, NM_013269.5:c.289A>T, NM_001004419.5:c.289A>T, NM_001004419.4:c.289A>T, NR_036693.3:n.311A>T, NR_036693.2:n.316A>T, NM_001197318.3:c.289A>T, NM_001197318.2:c.289A>T, NM_001197317.3:c.178A>T, NM_001197317.2:c.178A>T, NM_001197319.3:c.178A>T, NM_001197319.2:c.178A>T, NM_001004420.1:c.289A>T, NP_037401.1:p.Thr97Ser, NP_001004419.1:p.Thr97Ser, NP_001184247.1:p.Thr97Ser, NP_001184246.1:p.Thr60Ser, NP_001184248.1:p.Thr60Ser

Select item 140213846915.

rs1402138469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:9694841 (GRCh38)
12:9847437 (GRCh37)
Canonical SPDI:: NC_000012.12:9694840:G:T
Gene:: CLEC2D (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.9694841G>T, NC_000012.11:g.9847437G>T, NM_013269.6:c.543G>T, NM_013269.5:c.543G>T, NM_001004419.5:c.*40G>T, NM_001004419.4:c.*40G>T, NR_036693.3:n.536G>T, NR_036693.2:n.541G>T, NM_001197318.3:c.*40G>T, NM_001197318.2:c.*40G>T, NM_001197317.3:c.432G>T, NM_001197317.2:c.432G>T, NM_001197319.3:c.*40G>T, NM_001197319.2:c.*40G>T, NM_001004420.1:c.*249G>T, NP_037401.1:p.Lys181Asn, NP_001184246.1:p.Lys144Asn

Select item 139032618016.

rs1390326180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:9694853 (GRCh38)
12:9847449 (GRCh37)
Canonical SPDI:: NC_000012.12:9694852:C:G
Gene:: CLEC2D (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9694853C>G, NC_000012.11:g.9847449C>G, NM_013269.6:c.555C>G, NM_013269.5:c.555C>G, NM_001004419.5:c.*52C>G, NM_001004419.4:c.*52C>G, NR_036693.3:n.548C>G, NR_036693.2:n.553C>G, NM_001197318.3:c.*52C>G, NM_001197318.2:c.*52C>G, NM_001197317.3:c.444C>G, NM_001197317.2:c.444C>G, NM_001197319.3:c.*52C>G, NM_001197319.2:c.*52C>G, NM_001004420.1:c.*261C>G

Select item 138875770017.

rs1388757700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9694829 (GRCh38)
12:9847425 (GRCh37)
Canonical SPDI:: NC_000012.12:9694828:C:T
Gene:: CLEC2D (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9694829C>T, NC_000012.11:g.9847425C>T, NM_013269.6:c.531C>T, NM_013269.5:c.531C>T, NM_001004419.5:c.*28C>T, NM_001004419.4:c.*28C>T, NR_036693.3:n.524C>T, NR_036693.2:n.529C>T, NM_001197318.3:c.*28C>T, NM_001197318.2:c.*28C>T, NM_001197317.3:c.420C>T, NM_001197317.2:c.420C>T, NM_001197319.3:c.*28C>T, NM_001197319.2:c.*28C>T, NM_001004420.1:c.*237C>T

Select item 138710185818.

rs1387101858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:9687925 (GRCh38)
12:9840521 (GRCh37)
Canonical SPDI:: NC_000012.12:9687924:G:C
Gene:: CLEC2D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9687925G>C, NC_000012.11:g.9840521G>C, NM_013269.6:c.196G>C, NM_013269.5:c.196G>C, NM_001004419.5:c.196G>C, NM_001004419.4:c.196G>C, NR_036693.3:n.218G>C, NR_036693.2:n.223G>C, NM_001197318.3:c.196G>C, NM_001197318.2:c.196G>C, NM_001197317.3:c.85G>C, NM_001197317.2:c.85G>C, NM_001197319.3:c.85G>C, NM_001197319.2:c.85G>C, NM_001004420.1:c.196G>C, NP_037401.1:p.Glu66Gln, NP_001004419.1:p.Glu66Gln, NP_001184247.1:p.Glu66Gln, NP_001184246.1:p.Glu29Gln, NP_001184248.1:p.Glu29Gln

Select item 138510731419.

rs1385107314 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:9669749 (GRCh38)
12:9822346 (GRCh37)
Canonical SPDI:: NC_000012.12:9669749:AA:AAA
Gene:: CLEC2D (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.9669751dup, NC_000012.11:g.9822347dup, NM_013269.6:c.17dup, NM_013269.5:c.17dup, NM_001004419.5:c.17dup, NM_001004419.4:c.17dup, NR_036693.3:n.39dup, NR_036693.2:n.44dup, NM_001197318.3:c.17dup, NM_001197318.2:c.17dup, NM_001197317.3:c.17dup, NM_001197317.2:c.17dup, NM_001197319.3:c.17dup, NM_001197319.2:c.17dup, NM_001004420.1:c.17dup, NP_037401.1:p.Asn6fs, NP_001004419.1:p.Asn6fs, NP_001184247.1:p.Asn6fs, NP_001184246.1:p.Asn6fs, NP_001184248.1:p.Asn6fs

Select item 136920187120.

rs1369201871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9694770 (GRCh38)
12:9847366 (GRCh37)
Canonical SPDI:: NC_000012.12:9694769:C:T
Gene:: CLEC2D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.9694770C>T, NC_000012.11:g.9847366C>T, NM_013269.6:c.472C>T, NM_013269.5:c.472C>T, NM_001004419.5:c.554C>T, NM_001004419.4:c.554C>T, NR_036693.3:n.465C>T, NR_036693.2:n.470C>T, NM_001197318.3:c.368C>T, NM_001197318.2:c.368C>T, NM_001197317.3:c.361C>T, NM_001197317.2:c.361C>T, NM_001197319.3:c.257C>T, NM_001197319.2:c.257C>T, NM_001004420.1:c.*178C>T, NP_001004419.1:p.Pro185Leu, NP_001184247.1:p.Pro123Leu, NP_001184248.1:p.Pro86Leu

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