SNP Links for Protein (Select 27881501) - SNP

Links from Protein

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Select item 14915564101.

rs1491556410 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:214978424 (GRCh38)
2:215843148 (GRCh37)
Canonical SPDI:: NC_000002.12:214978422:ATA:A
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.214978424_214978425del, NC_000002.11:g.215843148_215843149del, NG_007074.2:g.165202_165203del, NG_007074.1:g.165004_165005del, NM_015657.4:c.4066_4067del, NM_015657.3:c.4066_4067del, NM_173076.3:c.5020_5021del, NM_173076.2:c.5020_5021del, NR_103740.2:n.5518_5519del, NR_103740.1:n.5320_5321del, XM_011510951.3:c.5029_5030del, XM_011510951.2:c.5029_5030del, XM_011510951.1:c.5029_5030del, NP_056472.2:p.Met1356fs, NP_775099.2:p.Met1674fs, XP_011509253.1:p.Met1677fs

Select item 14902259502.

rs1490225950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:214997720 (GRCh38)
2:215862444 (GRCh37)
Canonical SPDI:: NC_000002.12:214997719:T:C
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.214997720T>C, NC_000002.11:g.215862444T>C, NG_007074.2:g.145906A>G, NG_007074.1:g.145708A>G, NM_015657.4:c.2315A>G, NM_015657.3:c.2315A>G, NM_173076.3:c.3269A>G, NM_173076.2:c.3269A>G, NR_103740.2:n.3767A>G, NR_103740.1:n.3569A>G, XM_011510951.3:c.3269A>G, XM_011510951.2:c.3269A>G, XM_011510951.1:c.3269A>G, NP_056472.2:p.Tyr772Cys, NP_775099.2:p.Tyr1090Cys, XP_011509253.1:p.Tyr1090Cys

Select item 14898634763.

rs1489863476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:214932697 (GRCh38)
2:215797421 (GRCh37)
Canonical SPDI:: NC_000002.12:214932696:A:G
Gene:: ABCA12 (Varview), SNHG31 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.214932697A>G, NC_000002.11:g.215797421A>G, NG_007074.2:g.210929T>C, NG_007074.1:g.210731T>C, NM_015657.4:c.6771T>C, NM_015657.3:c.6771T>C, NM_173076.3:c.7725T>C, NM_173076.2:c.7725T>C, NR_103740.2:n.8223T>C, NR_103740.1:n.8025T>C, XM_011510951.3:c.7734T>C, XM_011510951.2:c.7734T>C, XM_011510951.1:c.7734T>C

Select item 14895039994.

rs1489503999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:214975865 (GRCh38)
2:215840589 (GRCh37)
Canonical SPDI:: NC_000002.12:214975864:C:T
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.214975865C>T, NC_000002.11:g.215840589C>T, NG_007074.2:g.167761G>A, NG_007074.1:g.167563G>A, NM_015657.4:c.4347G>A, NM_015657.3:c.4347G>A, NM_173076.3:c.5301G>A, NM_173076.2:c.5301G>A, NR_103740.2:n.5799G>A, NR_103740.1:n.5601G>A, XM_011510951.3:c.5310G>A, XM_011510951.2:c.5310G>A, XM_011510951.1:c.5310G>A

Select item 14892387105.

rs1489238710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:214948679 (GRCh38)
2:215813403 (GRCh37)
Canonical SPDI:: NC_000002.12:214948678:C:T
Gene:: ABCA12 (Varview), SNHG31 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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)
HGVS:: NC_000002.12:g.214948679C>T, NC_000002.11:g.215813403C>T, NG_007074.2:g.194947G>A, NG_007074.1:g.194749G>A, NM_015657.4:c.6067G>A, NM_015657.3:c.6067G>A, NM_173076.3:c.7021G>A, NM_173076.2:c.7021G>A, NR_103740.2:n.7519G>A, NR_103740.1:n.7321G>A, XM_011510951.3:c.7030G>A, XM_011510951.2:c.7030G>A, XM_011510951.1:c.7030G>A, NP_056472.2:p.Ala2023Thr, NP_775099.2:p.Ala2341Thr, XP_011509253.1:p.Ala2344Thr

Select item 14892009686.

rs1489200968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:215025727 (GRCh38)
2:215890451 (GRCh37)
Canonical SPDI:: NC_000002.12:215025726:G:A
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.215025727G>A, NC_000002.11:g.215890451G>A, NG_007074.2:g.117899C>T, NG_007074.1:g.117701C>T, NM_015657.4:c.279C>T, NM_015657.3:c.279C>T, NM_173076.3:c.1233C>T, NM_173076.2:c.1233C>T, NR_103740.2:n.1675C>T, NR_103740.1:n.1477C>T, XM_011510951.3:c.1233C>T, XM_011510951.2:c.1233C>T, XM_011510951.1:c.1233C>T

Select item 14888876017.

rs1488887601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:214989439 (GRCh38)
2:215854163 (GRCh37)
Canonical SPDI:: NC_000002.12:214989438:G:A
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.214989439G>A, NC_000002.11:g.215854163G>A, NG_007074.2:g.154187C>T, NG_007074.1:g.153989C>T, NM_015657.4:c.2765C>T, NM_015657.3:c.2765C>T, NM_173076.3:c.3719C>T, NM_173076.2:c.3719C>T, NR_103740.2:n.4217C>T, NR_103740.1:n.4019C>T, XM_011510951.3:c.3719C>T, XM_011510951.2:c.3719C>T, XM_011510951.1:c.3719C>T, NP_056472.2:p.Thr922Ile, NP_775099.2:p.Thr1240Ile, XP_011509253.1:p.Thr1240Ile

Select item 14886876008.

rs1488687600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:215015638 (GRCh38)
2:215880362 (GRCh37)
Canonical SPDI:: NC_000002.12:215015637:T:C
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.215015638T>C, NC_000002.11:g.215880362T>C, NG_007074.2:g.127988A>G, NG_007074.1:g.127790A>G, NM_015657.4:c.854A>G, NM_015657.3:c.854A>G, NM_173076.3:c.1808A>G, NM_173076.2:c.1808A>G, NR_103740.2:n.2250A>G, NR_103740.1:n.2052A>G, XM_011510951.3:c.1808A>G, XM_011510951.2:c.1808A>G, XM_011510951.1:c.1808A>G, NP_056472.2:p.His285Arg, NP_775099.2:p.His603Arg, XP_011509253.1:p.His603Arg

Select item 14885210689.

rs1488521068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:214974038 (GRCh38)
2:215838762 (GRCh37)
Canonical SPDI:: NC_000002.12:214974037:A:C
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.214974038A>C, NC_000002.11:g.215838762A>C, NG_007074.2:g.169588T>G, NG_007074.1:g.169390T>G, NM_015657.4:c.4519T>G, NM_015657.3:c.4519T>G, NM_173076.3:c.5473T>G, NM_173076.2:c.5473T>G, NR_103740.2:n.5971T>G, NR_103740.1:n.5773T>G, XM_011510951.3:c.5482T>G, XM_011510951.2:c.5482T>G, XM_011510951.1:c.5482T>G, NP_056472.2:p.Cys1507Gly, NP_775099.2:p.Cys1825Gly, XP_011509253.1:p.Cys1828Gly

Select item 148794986010.

rs1487949860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:214978911 (GRCh38)
2:215843635 (GRCh37)
Canonical SPDI:: NC_000002.12:214978910:T:C
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.214978911T>C, NC_000002.11:g.215843635T>C, NG_007074.2:g.164715A>G, NG_007074.1:g.164517A>G, NM_015657.4:c.3916A>G, NM_015657.3:c.3916A>G, NM_173076.3:c.4870A>G, NM_173076.2:c.4870A>G, NR_103740.2:n.5368A>G, NR_103740.1:n.5170A>G, XM_011510951.3:c.4879A>G, XM_011510951.2:c.4879A>G, XM_011510951.1:c.4879A>G, NP_056472.2:p.Ser1306Gly, NP_775099.2:p.Ser1624Gly, XP_011509253.1:p.Ser1627Gly

Select item 148734791511.

rs1487347915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:214978809 (GRCh38)
2:215843533 (GRCh37)
Canonical SPDI:: NC_000002.12:214978808:C:G,NC_000002.12:214978808:C:T
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.214978809C>G, NC_000002.12:g.214978809C>T, NC_000002.11:g.215843533C>G, NC_000002.11:g.215843533C>T, NG_007074.2:g.164817G>C, NG_007074.2:g.164817G>A, NG_007074.1:g.164619G>C, NG_007074.1:g.164619G>A, NM_015657.4:c.4018G>C, NM_015657.4:c.4018G>A, NM_015657.3:c.4018G>C, NM_015657.3:c.4018G>A, NM_173076.3:c.4972G>C, NM_173076.3:c.4972G>A, NM_173076.2:c.4972G>C, NM_173076.2:c.4972G>A, NR_103740.2:n.5470G>C, NR_103740.2:n.5470G>A, NR_103740.1:n.5272G>C, NR_103740.1:n.5272G>A, XM_011510951.3:c.4981G>C, XM_011510951.3:c.4981G>A, XM_011510951.2:c.4981G>C, XM_011510951.2:c.4981G>A, XM_011510951.1:c.4981G>C, XM_011510951.1:c.4981G>A, NP_056472.2:p.Glu1340Gln, NP_056472.2:p.Glu1340Lys, NP_775099.2:p.Glu1658Gln, NP_775099.2:p.Glu1658Lys, XP_011509253.1:p.Glu1661Gln, XP_011509253.1:p.Glu1661Lys

Select item 148574716712.

rs1485747167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:215007831 (GRCh38)
2:215872555 (GRCh37)
Canonical SPDI:: NC_000002.12:215007830:T:C
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.215007831T>C, NC_000002.11:g.215872555T>C, NG_007074.2:g.135795A>G, NG_007074.1:g.135597A>G, NM_015657.4:c.1534A>G, NM_015657.3:c.1534A>G, NM_173076.3:c.2488A>G, NM_173076.2:c.2488A>G, NR_103740.2:n.2930A>G, NR_103740.1:n.2732A>G, XM_011510951.3:c.2488A>G, XM_011510951.2:c.2488A>G, XM_011510951.1:c.2488A>G, NP_056472.2:p.Arg512Gly, NP_775099.2:p.Arg830Gly, XP_011509253.1:p.Arg830Gly

Select item 148528520413.

rs1485285204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:214945045 (GRCh38)
2:215809769 (GRCh37)
Canonical SPDI:: NC_000002.12:214945044:T:C
Gene:: ABCA12 (Varview), SNHG31 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.214945045T>C, NC_000002.11:g.215809769T>C, NG_007074.2:g.198581A>G, NG_007074.1:g.198383A>G, NM_015657.4:c.6345A>G, NM_015657.3:c.6345A>G, NM_173076.3:c.7299A>G, NM_173076.2:c.7299A>G, NR_103740.2:n.7797A>G, NR_103740.1:n.7599A>G, XM_011510951.3:c.7308A>G, XM_011510951.2:c.7308A>G, XM_011510951.1:c.7308A>G

Select item 148526193814.

rs1485261938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:214958449 (GRCh38)
2:215823173 (GRCh37)
Canonical SPDI:: NC_000002.12:214958448:C:A,NC_000002.12:214958448:C:G
Gene:: ABCA12 (Varview), SNHG31 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.214958449C>A, NC_000002.12:g.214958449C>G, NC_000002.11:g.215823173C>A, NC_000002.11:g.215823173C>G, NG_007074.2:g.185177G>T, NG_007074.2:g.185177G>C, NG_007074.1:g.184979G>T, NG_007074.1:g.184979G>C, NM_015657.4:c.4991G>T, NM_015657.4:c.4991G>C, NM_015657.3:c.4991G>T, NM_015657.3:c.4991G>C, NM_173076.3:c.5945G>T, NM_173076.3:c.5945G>C, NM_173076.2:c.5945G>T, NM_173076.2:c.5945G>C, NR_103740.2:n.6443G>T, NR_103740.2:n.6443G>C, NR_103740.1:n.6245G>T, NR_103740.1:n.6245G>C, XM_011510951.3:c.5954G>T, XM_011510951.3:c.5954G>C, XM_011510951.2:c.5954G>T, XM_011510951.2:c.5954G>C, XM_011510951.1:c.5954G>T, XM_011510951.1:c.5954G>C, NP_056472.2:p.Ser1664Ile, NP_056472.2:p.Ser1664Thr, NP_775099.2:p.Ser1982Ile, NP_775099.2:p.Ser1982Thr, XP_011509253.1:p.Ser1985Ile, XP_011509253.1:p.Ser1985Thr

Select item 148384469115.

rs1483844691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:214943016 (GRCh38)
2:215807740 (GRCh37)
Canonical SPDI:: NC_000002.12:214943015:T:G
Gene:: ABCA12 (Varview), SNHG31 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.214943016T>G, NC_000002.11:g.215807740T>G, NG_007074.2:g.200610A>C, NG_007074.1:g.200412A>C, NM_015657.4:c.6391A>C, NM_015657.3:c.6391A>C, NM_173076.3:c.7345A>C, NM_173076.2:c.7345A>C, NR_103740.2:n.7843A>C, NR_103740.1:n.7645A>C, XM_011510951.3:c.7354A>C, XM_011510951.2:c.7354A>C, XM_011510951.1:c.7354A>C, NP_056472.2:p.Met2131Leu, NP_775099.2:p.Met2449Leu, XP_011509253.1:p.Met2452Leu

Select item 148322357516.

rs1483223575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:214978923 (GRCh38)
2:215843647 (GRCh37)
Canonical SPDI:: NC_000002.12:214978922:G:A
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_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_000002.12:g.214978923G>A, NC_000002.11:g.215843647G>A, NG_007074.2:g.164703C>T, NG_007074.1:g.164505C>T, NM_015657.4:c.3904C>T, NM_015657.3:c.3904C>T, NM_173076.3:c.4858C>T, NM_173076.2:c.4858C>T, NR_103740.2:n.5356C>T, NR_103740.1:n.5158C>T, XM_011510951.3:c.4867C>T, XM_011510951.2:c.4867C>T, XM_011510951.1:c.4867C>T, NP_056472.2:p.Leu1302Phe, NP_775099.2:p.Leu1620Phe, XP_011509253.1:p.Leu1623Phe

Select item 148277020617.

rs1482770206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:215000750 (GRCh38)
2:215865474 (GRCh37)
Canonical SPDI:: NC_000002.12:215000749:G:A
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.215000750G>A, NC_000002.11:g.215865474G>A, NG_007074.2:g.142876C>T, NG_007074.1:g.142678C>T, NM_015657.4:c.2180C>T, NM_015657.3:c.2180C>T, NM_173076.3:c.3134C>T, NM_173076.2:c.3134C>T, NR_103740.2:n.3576C>T, NR_103740.1:n.3378C>T, XM_011510951.3:c.3134C>T, XM_011510951.2:c.3134C>T, XM_011510951.1:c.3134C>T, NP_056472.2:p.Ala727Val, NP_775099.2:p.Ala1045Val, XP_011509253.1:p.Ala1045Val

Select item 148130672418.

rs1481306724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:214983859 (GRCh38)
2:215848583 (GRCh37)
Canonical SPDI:: NC_000002.12:214983858:C:G
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.214983859C>G, NC_000002.11:g.215848583C>G, NG_007074.2:g.159767G>C, NG_007074.1:g.159569G>C, NM_015657.4:c.3216G>C, NM_015657.3:c.3216G>C, NM_173076.3:c.4170G>C, NM_173076.2:c.4170G>C, NR_103740.2:n.4668G>C, NR_103740.1:n.4470G>C, XM_011510951.3:c.4179G>C, XM_011510951.2:c.4179G>C, XM_011510951.1:c.4179G>C, NP_056472.2:p.Met1072Ile, NP_775099.2:p.Met1390Ile, XP_011509253.1:p.Met1393Ile

Select item 148120023519.

rs1481200235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:214991008 (GRCh38)
2:215855732 (GRCh37)
Canonical SPDI:: NC_000002.12:214991007:G:A
Gene:: ABCA12 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.214991008G>A, NC_000002.11:g.215855732G>A, NG_007074.2:g.152618C>T, NG_007074.1:g.152420C>T, NM_015657.4:c.2364C>T, NM_015657.3:c.2364C>T, NM_173076.3:c.3318C>T, NM_173076.2:c.3318C>T, NR_103740.2:n.3816C>T, NR_103740.1:n.3618C>T, XM_011510951.3:c.3318C>T, XM_011510951.2:c.3318C>T, XM_011510951.1:c.3318C>T

Select item 148062782120.

rs1480627821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:215018024 (GRCh38)
2:215882748 (GRCh37)
Canonical SPDI:: NC_000002.12:215018023:G:C
Gene:: ABCA12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.215018024G>C, NC_000002.11:g.215882748G>C, NG_007074.2:g.125602C>G, NG_007074.1:g.125404C>G, NM_015657.4:c.812C>G, NM_015657.3:c.812C>G, NM_173076.3:c.1766C>G, NM_173076.2:c.1766C>G, NR_103740.2:n.2208C>G, NR_103740.1:n.2010C>G, XM_011510951.3:c.1766C>G, XM_011510951.2:c.1766C>G, XM_011510951.1:c.1766C>G, NP_056472.2:p.Pro271Arg, NP_775099.2:p.Pro589Arg, XP_011509253.1:p.Pro589Arg

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