SNP Links for Protein (Select 1002341753) - SNP

Links from Protein

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Select item 14779215071.

rs1477921507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:54304705 (GRCh38)
2:54531842 (GRCh37)
Canonical SPDI:: NC_000002.12:54304704:A:T
Gene:: ACYP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54304705A>T, NC_000002.11:g.54531842A>T, NM_138448.4:c.203A>T, NM_138448.3:c.203A>T, NM_001320586.2:c.422A>T, NM_001320586.1:c.422A>T, NM_001320587.2:c.329A>T, NM_001320587.1:c.329A>T, NM_001320589.2:c.*60A>T, NM_001320589.1:c.*60A>T, NM_001320588.2:c.131A>T, NM_001320588.1:c.131A>T, NP_612457.1:p.Lys68Met, NP_001307515.1:p.Lys141Met, NP_001307516.1:p.Lys110Met, NP_001307517.1:p.Lys44Met

Select item 14735232982.

rs1473523298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:54304720 (GRCh38)
2:54531857 (GRCh37)
Canonical SPDI:: NC_000002.12:54304719:G:C
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54304720G>C, NC_000002.11:g.54531857G>C, NM_138448.4:c.218G>C, NM_138448.3:c.218G>C, NM_001320586.2:c.437G>C, NM_001320586.1:c.437G>C, NM_001320587.2:c.344G>C, NM_001320587.1:c.344G>C, NM_001320589.2:c.*75G>C, NM_001320589.1:c.*75G>C, NM_001320588.2:c.146G>C, NM_001320588.1:c.146G>C, NP_612457.1:p.Ser73Thr, NP_001307515.1:p.Ser146Thr, NP_001307516.1:p.Ser115Thr, NP_001307517.1:p.Ser49Thr

Select item 14646054533.

rs1464605453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54138728 (GRCh38)
2:54365865 (GRCh37)
Canonical SPDI:: NC_000002.12:54138727:A:G
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54138728A>G, NC_000002.11:g.54365865A>G, NM_138448.4:c.165A>G, NM_138448.3:c.165A>G, NM_001320590.2:c.165A>G, NM_001320590.1:c.165A>G, NM_001320586.2:c.384A>G, NM_001320586.1:c.384A>G, NM_001320587.2:c.291A>G, NM_001320587.1:c.291A>G, NM_001320589.2:c.165A>G, NM_001320589.1:c.165A>G, NM_001320588.2:c.93A>G, NM_001320588.1:c.93A>G

Select item 14500346454.

rs1450034645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:54138740 (GRCh38)
2:54365877 (GRCh37)
Canonical SPDI:: NC_000002.12:54138739:C:G
Gene:: ACYP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54138740C>G, NC_000002.11:g.54365877C>G, NM_138448.4:c.177C>G, NM_138448.3:c.177C>G, NM_001320590.2:c.177C>G, NM_001320590.1:c.177C>G, NM_001320586.2:c.396C>G, NM_001320586.1:c.396C>G, NM_001320587.2:c.303C>G, NM_001320587.1:c.303C>G, NM_001320589.2:c.177C>G, NM_001320589.1:c.177C>G, NM_001320588.2:c.105C>G, NM_001320588.1:c.105C>G

Select item 14298026765.

rs1429802676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:54138648 (GRCh38)
2:54365785 (GRCh37)
Canonical SPDI:: NC_000002.12:54138647:G:T
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.54138648G>T, NC_000002.11:g.54365785G>T, NM_138448.4:c.85G>T, NM_138448.3:c.85G>T, NM_001320590.2:c.85G>T, NM_001320590.1:c.85G>T, NM_001320586.2:c.304G>T, NM_001320586.1:c.304G>T, NM_001320587.2:c.211G>T, NM_001320587.1:c.211G>T, NM_001320589.2:c.85G>T, NM_001320589.1:c.85G>T, NM_001320588.2:c.13G>T, NM_001320588.1:c.13G>T, NP_612457.1:p.Asp29Tyr, NP_001307519.1:p.Asp29Tyr, NP_001307515.1:p.Asp102Tyr, NP_001307516.1:p.Asp71Tyr, NP_001307518.1:p.Asp29Tyr, NP_001307517.1:p.Asp5Tyr

Select item 14238852716.

rs1423885271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:54304799 (GRCh38)
2:54531936 (GRCh37)
Canonical SPDI:: NC_000002.12:54304798:C:G
Gene:: ACYP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.54304799C>G, NC_000002.11:g.54531936C>G, NM_138448.4:c.297C>G, NM_138448.3:c.297C>G, NM_001320586.2:c.516C>G, NM_001320586.1:c.516C>G, NM_001320587.2:c.423C>G, NM_001320587.1:c.423C>G, NM_001320589.2:c.*154C>G, NM_001320589.1:c.*154C>G, NM_001320588.2:c.225C>G, NM_001320588.1:c.225C>G, NP_612457.1:p.Tyr99Ter, NP_001307515.1:p.Tyr172Ter, NP_001307516.1:p.Tyr141Ter, NP_001307517.1:p.Tyr75Ter

Select item 14223187057.

rs1422318705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:54138670 (GRCh38)
2:54365807 (GRCh37)
Canonical SPDI:: NC_000002.12:54138669:T:C
Gene:: ACYP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54138670T>C, NC_000002.11:g.54365807T>C, NM_138448.4:c.107T>C, NM_138448.3:c.107T>C, NM_001320590.2:c.107T>C, NM_001320590.1:c.107T>C, NM_001320586.2:c.326T>C, NM_001320586.1:c.326T>C, NM_001320587.2:c.233T>C, NM_001320587.1:c.233T>C, NM_001320589.2:c.107T>C, NM_001320589.1:c.107T>C, NM_001320588.2:c.35T>C, NM_001320588.1:c.35T>C, NP_612457.1:p.Val36Ala, NP_001307519.1:p.Val36Ala, NP_001307515.1:p.Val109Ala, NP_001307516.1:p.Val78Ala, NP_001307518.1:p.Val36Ala, NP_001307517.1:p.Val12Ala

Select item 14206843918.

rs1420684391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:54304793 (GRCh38)
2:54531930 (GRCh37)
Canonical SPDI:: NC_000002.12:54304792:T:C
Gene:: ACYP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.54304793T>C, NC_000002.11:g.54531930T>C, NM_138448.4:c.291T>C, NM_138448.3:c.291T>C, NM_001320586.2:c.510T>C, NM_001320586.1:c.510T>C, NM_001320587.2:c.417T>C, NM_001320587.1:c.417T>C, NM_001320589.2:c.*148T>C, NM_001320589.1:c.*148T>C, NM_001320588.2:c.219T>C, NM_001320588.1:c.219T>C

Select item 13983193359.

rs1398319335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54138720 (GRCh38)
2:54365857 (GRCh37)
Canonical SPDI:: NC_000002.12:54138719:C:T
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.54138720C>T, NC_000002.11:g.54365857C>T, NM_138448.4:c.157C>T, NM_138448.3:c.157C>T, NM_001320590.2:c.157C>T, NM_001320590.1:c.157C>T, NM_001320586.2:c.376C>T, NM_001320586.1:c.376C>T, NM_001320587.2:c.283C>T, NM_001320587.1:c.283C>T, NM_001320589.2:c.157C>T, NM_001320589.1:c.157C>T, NM_001320588.2:c.85C>T, NM_001320588.1:c.85C>T, NP_612457.1:p.Gln53Ter, NP_001307519.1:p.Gln53Ter, NP_001307515.1:p.Gln126Ter, NP_001307516.1:p.Gln95Ter, NP_001307518.1:p.Gln53Ter, NP_001307517.1:p.Gln29Ter

Select item 139202698610.

rs1392026986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:54138738 (GRCh38)
2:54365875 (GRCh37)
Canonical SPDI:: NC_000002.12:54138737:G:A
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54138738G>A, NC_000002.11:g.54365875G>A, NM_138448.4:c.175G>A, NM_138448.3:c.175G>A, NM_001320590.2:c.175G>A, NM_001320590.1:c.175G>A, NM_001320586.2:c.394G>A, NM_001320586.1:c.394G>A, NM_001320587.2:c.301G>A, NM_001320587.1:c.301G>A, NM_001320589.2:c.175G>A, NM_001320589.1:c.175G>A, NM_001320588.2:c.103G>A, NM_001320588.1:c.103G>A, NP_612457.1:p.Val59Ile, NP_001307519.1:p.Val59Ile, NP_001307515.1:p.Val132Ile, NP_001307516.1:p.Val101Ile, NP_001307518.1:p.Val59Ile, NP_001307517.1:p.Val35Ile

Select item 137872754311.

rs1378727543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:54304779 (GRCh38)
2:54531916 (GRCh37)
Canonical SPDI:: NC_000002.12:54304778:T:C
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54304779T>C, NC_000002.11:g.54531916T>C, NM_138448.4:c.277T>C, NM_138448.3:c.277T>C, NM_001320586.2:c.496T>C, NM_001320586.1:c.496T>C, NM_001320587.2:c.403T>C, NM_001320587.1:c.403T>C, NM_001320589.2:c.*134T>C, NM_001320589.1:c.*134T>C, NM_001320588.2:c.205T>C, NM_001320588.1:c.205T>C, NP_612457.1:p.Ser93Pro, NP_001307515.1:p.Ser166Pro, NP_001307516.1:p.Ser135Pro, NP_001307517.1:p.Ser69Pro

Select item 136568563612.

rs1365685636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54304796 (GRCh38)
2:54531933 (GRCh37)
Canonical SPDI:: NC_000002.12:54304795:A:G
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54304796A>G, NC_000002.11:g.54531933A>G, NM_138448.4:c.294A>G, NM_138448.3:c.294A>G, NM_001320586.2:c.513A>G, NM_001320586.1:c.513A>G, NM_001320587.2:c.420A>G, NM_001320587.1:c.420A>G, NM_001320589.2:c.*151A>G, NM_001320589.1:c.*151A>G, NM_001320588.2:c.222A>G, NM_001320588.1:c.222A>G

Select item 136397137013.

rs1363971370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:54138707 (GRCh38)
2:54365844 (GRCh37)
Canonical SPDI:: NC_000002.12:54138706:G:A,NC_000002.12:54138706:G:C
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54138707G>A, NC_000002.12:g.54138707G>C, NC_000002.11:g.54365844G>A, NC_000002.11:g.54365844G>C, NM_138448.4:c.144G>A, NM_138448.4:c.144G>C, NM_138448.3:c.144G>A, NM_138448.3:c.144G>C, NM_001320590.2:c.144G>A, NM_001320590.2:c.144G>C, NM_001320590.1:c.144G>A, NM_001320590.1:c.144G>C, NM_001320586.2:c.363G>A, NM_001320586.2:c.363G>C, NM_001320586.1:c.363G>A, NM_001320586.1:c.363G>C, NM_001320587.2:c.270G>A, NM_001320587.2:c.270G>C, NM_001320587.1:c.270G>A, NM_001320587.1:c.270G>C, NM_001320589.2:c.144G>A, NM_001320589.2:c.144G>C, NM_001320589.1:c.144G>A, NM_001320589.1:c.144G>C, NM_001320588.2:c.72G>A, NM_001320588.2:c.72G>C, NM_001320588.1:c.72G>A, NM_001320588.1:c.72G>C

Select item 135268445914.

rs1352684459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:54138671 (GRCh38)
2:54365808 (GRCh37)
Canonical SPDI:: NC_000002.12:54138670:G:T
Gene:: ACYP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54138671G>T, NC_000002.11:g.54365808G>T, NM_138448.4:c.108G>T, NM_138448.3:c.108G>T, NM_001320590.2:c.108G>T, NM_001320590.1:c.108G>T, NM_001320586.2:c.327G>T, NM_001320586.1:c.327G>T, NM_001320587.2:c.234G>T, NM_001320587.1:c.234G>T, NM_001320589.2:c.108G>T, NM_001320589.1:c.108G>T, NM_001320588.2:c.36G>T, NM_001320588.1:c.36G>T

Select item 134494161815.

rs1344941618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:54138714 (GRCh38)
2:54365851 (GRCh37)
Canonical SPDI:: NC_000002.12:54138713:C:G
Gene:: ACYP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.54138714C>G, NC_000002.11:g.54365851C>G, NM_138448.4:c.151C>G, NM_138448.3:c.151C>G, NM_001320590.2:c.151C>G, NM_001320590.1:c.151C>G, NM_001320586.2:c.370C>G, NM_001320586.1:c.370C>G, NM_001320587.2:c.277C>G, NM_001320587.1:c.277C>G, NM_001320589.2:c.151C>G, NM_001320589.1:c.151C>G, NM_001320588.2:c.79C>G, NM_001320588.1:c.79C>G, NP_612457.1:p.Gln51Glu, NP_001307519.1:p.Gln51Glu, NP_001307515.1:p.Gln124Glu, NP_001307516.1:p.Gln93Glu, NP_001307518.1:p.Gln51Glu, NP_001307517.1:p.Gln27Glu

Select item 134261621816.

rs1342616218 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:54138726 (GRCh38)
2:54365863 (GRCh37)
Canonical SPDI:: NC_000002.12:54138725:CC:C
Gene:: ACYP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.54138727del, NC_000002.11:g.54365864del, NM_138448.4:c.164del, NM_138448.3:c.164del, NM_001320590.2:c.164del, NM_001320590.1:c.164del, NM_001320586.2:c.383del, NM_001320586.1:c.383del, NM_001320587.2:c.290del, NM_001320587.1:c.290del, NM_001320589.2:c.164del, NM_001320589.1:c.164del, NM_001320588.2:c.92del, NM_001320588.1:c.92del, NP_612457.1:p.Pro55fs, NP_001307519.1:p.Pro55fs, NP_001307515.1:p.Pro128fs, NP_001307516.1:p.Pro97fs, NP_001307518.1:p.Pro55fs, NP_001307517.1:p.Pro31fs

Select item 133113379217.

rs1331133792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54304777 (GRCh38)
2:54531914 (GRCh37)
Canonical SPDI:: NC_000002.12:54304776:A:G
Gene:: ACYP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_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_000002.12:g.54304777A>G, NC_000002.11:g.54531914A>G, NM_138448.4:c.275A>G, NM_138448.3:c.275A>G, NM_001320586.2:c.494A>G, NM_001320586.1:c.494A>G, NM_001320587.2:c.401A>G, NM_001320587.1:c.401A>G, NM_001320589.2:c.*132A>G, NM_001320589.1:c.*132A>G, NM_001320588.2:c.203A>G, NM_001320588.1:c.203A>G, NP_612457.1:p.Tyr92Cys, NP_001307515.1:p.Tyr165Cys, NP_001307516.1:p.Tyr134Cys, NP_001307517.1:p.Tyr68Cys

Select item 132158203318.

rs1321582033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:54304731 (GRCh38)
2:54531868 (GRCh37)
Canonical SPDI:: NC_000002.12:54304730:G:T
Gene:: ACYP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54304731G>T, NC_000002.11:g.54531868G>T, NM_138448.4:c.229G>T, NM_138448.3:c.229G>T, NM_001320586.2:c.448G>T, NM_001320586.1:c.448G>T, NM_001320587.2:c.355G>T, NM_001320587.1:c.355G>T, NM_001320589.2:c.*86G>T, NM_001320589.1:c.*86G>T, NM_001320588.2:c.157G>T, NM_001320588.1:c.157G>T, NP_612457.1:p.Asp77Tyr, NP_001307515.1:p.Asp150Tyr, NP_001307516.1:p.Asp119Tyr, NP_001307517.1:p.Asp53Tyr

Select item 130518470219.

rs1305184702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:54304716 (GRCh38)
2:54531853 (GRCh37)
Canonical SPDI:: NC_000002.12:54304715:C:A
Gene:: ACYP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54304716C>A, NC_000002.11:g.54531853C>A, NM_138448.4:c.214C>A, NM_138448.3:c.214C>A, NM_001320586.2:c.433C>A, NM_001320586.1:c.433C>A, NM_001320587.2:c.340C>A, NM_001320587.1:c.340C>A, NM_001320589.2:c.*71C>A, NM_001320589.1:c.*71C>A, NM_001320588.2:c.142C>A, NM_001320588.1:c.142C>A, NP_612457.1:p.Pro72Thr, NP_001307515.1:p.Pro145Thr, NP_001307516.1:p.Pro114Thr, NP_001307517.1:p.Pro48Thr

Select item 128134077120.

rs1281340771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:54304721 (GRCh38)
2:54531858 (GRCh37)
Canonical SPDI:: NC_000002.12:54304720:T:C
Gene:: ACYP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000002.12:g.54304721T>C, NC_000002.11:g.54531858T>C, NM_138448.4:c.219T>C, NM_138448.3:c.219T>C, NM_001320586.2:c.438T>C, NM_001320586.1:c.438T>C, NM_001320587.2:c.345T>C, NM_001320587.1:c.345T>C, NM_001320589.2:c.*76T>C, NM_001320589.1:c.*76T>C, NM_001320588.2:c.147T>C, NM_001320588.1:c.147T>C

dbSNP

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