SNP Links for Protein (Select 998074853) - SNP

Links from Protein

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Select item 14891859521.

rs1489185952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:161726955 (GRCh38)
1:161696745 (GRCh37)
Canonical SPDI:: NC_000001.11:161726954:T:G
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.161726955T>G, NC_000001.10:g.161696745T>G, NM_001002901.4:c.827T>G, NM_001002901.3:c.827T>G, NM_001002901.2:c.827T>G, NM_001320241.1:c.827T>G, NM_001288831.1:c.723T>G, NM_001288832.1:c.702T>G, NM_001288829.1:c.682T>G, NM_001288830.1:c.661T>G, NM_152378.1:c.834T>G, NP_001002901.1:p.Val276Gly, NP_001307170.1:p.Val276Gly, NP_001275760.1:p.Cys241Trp, NP_001275761.1:p.Cys234Trp, NP_001275758.1:p.Ser228Ala, NP_001275759.1:p.Ser221Ala

Select item 14887757362.

rs1488775736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161725829 (GRCh38)
1:161695619 (GRCh37)
Canonical SPDI:: NC_000001.11:161725828:A:G
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
HGVS:: NC_000001.11:g.161725829A>G, NC_000001.10:g.161695619A>G, NM_001002901.4:c.316A>G, NM_001002901.3:c.316A>G, NM_001002901.2:c.316A>G, NM_001320241.1:c.316A>G, NM_001288831.1:c.316A>G, NM_001288832.1:c.295A>G, NM_001288829.1:c.316A>G, NM_001288830.1:c.295A>G, NP_001002901.1:p.Ile106Val, NP_001307170.1:p.Ile106Val, NP_001275760.1:p.Ile106Val, NP_001275761.1:p.Ile99Val, NP_001275758.1:p.Ile106Val, NP_001275759.1:p.Ile99Val

Select item 14880813993.

rs1488081399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:161727512 (GRCh38)
1:161697302 (GRCh37)
Canonical SPDI:: NC_000001.11:161727511:A:T
Gene:: FCRLB (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161727512A>T, NC_000001.10:g.161697302A>T, NM_001002901.4:c.1131A>T, NM_001002901.3:c.1131A>T, NM_001002901.2:c.1131A>T, NM_001320241.1:c.1131A>T, NM_001288831.1:c.*199A>T, NM_001288832.1:c.*199A>T, NM_001288829.1:c.*29A>T, NM_001288830.1:c.*29A>T, NM_152378.1:c.*199A>T, NP_001002901.1:p.Glu377Asp, NP_001307170.1:p.Glu377Asp

Select item 14872274744.

rs1487227474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161726892 (GRCh38)
1:161696682 (GRCh37)
Canonical SPDI:: NC_000001.11:161726891:C:T
Gene:: FCRLB (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.161726892C>T, NC_000001.10:g.161696682C>T, NM_001002901.4:c.764C>T, NM_001002901.3:c.764C>T, NM_001002901.2:c.764C>T, NM_001320241.1:c.764C>T, NM_001288831.1:c.660C>T, NM_001288832.1:c.639C>T, NM_001288829.1:c.619C>T, NM_001288830.1:c.598C>T, NM_152378.1:c.771C>T, NP_001002901.1:p.Pro255Leu, NP_001307170.1:p.Pro255Leu, NP_001275758.1:p.Arg207Trp, NP_001275759.1:p.Arg200Trp

Select item 14872177565.

rs1487217756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:161727591 (GRCh38)
1:161697381 (GRCh37)
Canonical SPDI:: NC_000001.11:161727590:A:C,NC_000001.11:161727590:A:G
Gene:: FCRLB (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161727591A>C, NC_000001.11:g.161727591A>G, NC_000001.10:g.161697381A>C, NC_000001.10:g.161697381A>G, NM_001002901.4:c.1210A>C, NM_001002901.4:c.1210A>G, NM_001002901.3:c.1210A>C, NM_001002901.3:c.1210A>G, NM_001002901.2:c.1210A>C, NM_001002901.2:c.1210A>G, NM_001320241.1:c.1210A>C, NM_001320241.1:c.1210A>G, NM_001288831.1:c.*278A>C, NM_001288831.1:c.*278A>G, NM_001288832.1:c.*278A>C, NM_001288832.1:c.*278A>G, NM_001288829.1:c.*108A>C, NM_001288829.1:c.*108A>G, NM_001288830.1:c.*108A>C, NM_001288830.1:c.*108A>G, NM_152378.1:c.*278A>C, NM_152378.1:c.*278A>G, NP_001002901.1:p.Thr404Pro, NP_001002901.1:p.Thr404Ala, NP_001307170.1:p.Thr404Pro, NP_001307170.1:p.Thr404Ala

Select item 14867831706.

rs1486783170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161726064 (GRCh38)
1:161695854 (GRCh37)
Canonical SPDI:: NC_000001.11:161726063:C:T
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161726064C>T, NC_000001.10:g.161695854C>T, NM_001002901.4:c.551C>T, NM_001002901.3:c.551C>T, NM_001002901.2:c.551C>T, NM_001320241.1:c.551C>T, NM_001288831.1:c.551C>T, NM_001288832.1:c.530C>T, NM_001288829.1:c.551C>T, NM_001288830.1:c.530C>T, NM_152378.1:c.-58C>T, NP_001002901.1:p.Ala184Val, NP_001307170.1:p.Ala184Val, NP_001275760.1:p.Ala184Val, NP_001275761.1:p.Ala177Val, NP_001275758.1:p.Ala184Val, NP_001275759.1:p.Ala177Val

Select item 14783424847.

rs1478342484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:161727273 (GRCh38)
1:161697063 (GRCh37)
Canonical SPDI:: NC_000001.11:161727272:A:C,NC_000001.11:161727272:A:G
Gene:: FCRLB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000068/3 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.161727273A>C, NC_000001.11:g.161727273A>G, NC_000001.10:g.161697063A>C, NC_000001.10:g.161697063A>G, NM_001002901.4:c.892A>C, NM_001002901.4:c.892A>G, NM_001002901.3:c.892A>C, NM_001002901.3:c.892A>G, NM_001002901.2:c.892A>C, NM_001002901.2:c.892A>G, NM_001320241.1:c.892A>C, NM_001320241.1:c.892A>G, NM_001288831.1:c.788A>C, NM_001288831.1:c.788A>G, NM_001288832.1:c.767A>C, NM_001288832.1:c.767A>G, NM_001288829.1:c.747A>C, NM_001288829.1:c.747A>G, NM_001288830.1:c.726A>C, NM_001288830.1:c.726A>G, NM_152378.1:c.899A>C, NM_152378.1:c.899A>G, NP_001002901.1:p.Thr298Pro, NP_001002901.1:p.Thr298Ala, NP_001307170.1:p.Thr298Pro, NP_001307170.1:p.Thr298Ala, NP_001275760.1:p.His263Pro, NP_001275760.1:p.His263Arg, NP_001275761.1:p.His256Pro, NP_001275761.1:p.His256Arg

Select item 14779036778.

rs1477903677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161726826 (GRCh38)
1:161696616 (GRCh37)
Canonical SPDI:: NC_000001.11:161726825:A:G
Gene:: FCRLB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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)
HGVS:: NC_000001.11:g.161726826A>G, NC_000001.10:g.161696616A>G, NM_001002901.4:c.698A>G, NM_001002901.3:c.698A>G, NM_001002901.2:c.698A>G, NM_001320241.1:c.698A>G, NM_001288831.1:c.594A>G, NM_001288832.1:c.573A>G, NM_152378.1:c.705A>G, NP_001002901.1:p.Gln233Arg, NP_001307170.1:p.Gln233Arg

Select item 14775800679.

rs1477580067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:161725880 (GRCh38)
1:161695670 (GRCh37)
Canonical SPDI:: NC_000001.11:161725879:C:A,NC_000001.11:161725879:C:T
Gene:: FCRLB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161725880C>A, NC_000001.11:g.161725880C>T, NC_000001.10:g.161695670C>A, NC_000001.10:g.161695670C>T, NM_001002901.4:c.367C>A, NM_001002901.4:c.367C>T, NM_001002901.3:c.367C>A, NM_001002901.3:c.367C>T, NM_001002901.2:c.367C>A, NM_001002901.2:c.367C>T, NM_001320241.1:c.367C>A, NM_001320241.1:c.367C>T, NM_001288831.1:c.367C>A, NM_001288831.1:c.367C>T, NM_001288832.1:c.346C>A, NM_001288832.1:c.346C>T, NM_001288829.1:c.367C>A, NM_001288829.1:c.367C>T, NM_001288830.1:c.346C>A, NM_001288830.1:c.346C>T, NP_001002901.1:p.Arg123Ser, NP_001002901.1:p.Arg123Cys, NP_001307170.1:p.Arg123Ser, NP_001307170.1:p.Arg123Cys, NP_001275760.1:p.Arg123Ser, NP_001275760.1:p.Arg123Cys, NP_001275761.1:p.Arg116Ser, NP_001275761.1:p.Arg116Cys, NP_001275758.1:p.Arg123Ser, NP_001275758.1:p.Arg123Cys, NP_001275759.1:p.Arg116Ser, NP_001275759.1:p.Arg116Cys

Select item 147674993010.

rs1476749930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:161726831 (GRCh38)
1:161696621 (GRCh37)
Canonical SPDI:: NC_000001.11:161726830:G:T
Gene:: FCRLB (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 (TOPMED)
T=0.000046/8 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161726831G>T, NC_000001.10:g.161696621G>T, NM_001002901.4:c.703G>T, NM_001002901.3:c.703G>T, NM_001002901.2:c.703G>T, NM_001320241.1:c.703G>T, NM_001288831.1:c.599G>T, NM_001288832.1:c.578G>T, NM_152378.1:c.710G>T, NP_001002901.1:p.Ala235Ser, NP_001307170.1:p.Ala235Ser, NP_001275760.1:p.Arg200Leu, NP_001275761.1:p.Arg193Leu

Select item 147660668411.

rs1476606684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161727446 (GRCh38)
1:161697236 (GRCh37)
Canonical SPDI:: NC_000001.11:161727445:T:C
Gene:: FCRLB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161727446T>C, NC_000001.10:g.161697236T>C, NM_001002901.4:c.1065T>C, NM_001002901.3:c.1065T>C, NM_001002901.2:c.1065T>C, NM_001320241.1:c.1065T>C, NM_001288831.1:c.*133T>C, NM_001288832.1:c.*133T>C, NM_001288829.1:c.920T>C, NM_001288830.1:c.899T>C, NM_152378.1:c.*133T>C, NP_001275758.1:p.Leu307Pro, NP_001275759.1:p.Leu300Pro

Select item 147008116712.

rs1470081167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161726012 (GRCh38)
1:161695802 (GRCh37)
Canonical SPDI:: NC_000001.11:161726011:C:T
Gene:: FCRLB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.161726012C>T, NC_000001.10:g.161695802C>T, NM_001002901.4:c.499C>T, NM_001002901.3:c.499C>T, NM_001002901.2:c.499C>T, NM_001320241.1:c.499C>T, NM_001288831.1:c.499C>T, NM_001288832.1:c.478C>T, NM_001288829.1:c.499C>T, NM_001288830.1:c.478C>T, NM_152378.1:c.-110C>T, NP_001002901.1:p.Gln167Ter, NP_001307170.1:p.Gln167Ter, NP_001275760.1:p.Gln167Ter, NP_001275761.1:p.Gln160Ter, NP_001275758.1:p.Gln167Ter, NP_001275759.1:p.Gln160Ter

Select item 146945434813.

rs1469454348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161725865 (GRCh38)
1:161695655 (GRCh37)
Canonical SPDI:: NC_000001.11:161725864:G:A
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000684/2 (KOREAN)
A=0.001486/25 (TOMMO)
HGVS:: NC_000001.11:g.161725865G>A, NC_000001.10:g.161695655G>A, NM_001002901.4:c.352G>A, NM_001002901.3:c.352G>A, NM_001002901.2:c.352G>A, NM_001320241.1:c.352G>A, NM_001288831.1:c.352G>A, NM_001288832.1:c.331G>A, NM_001288829.1:c.352G>A, NM_001288830.1:c.331G>A, NP_001002901.1:p.Glu118Lys, NP_001307170.1:p.Glu118Lys, NP_001275760.1:p.Glu118Lys, NP_001275761.1:p.Glu111Lys, NP_001275758.1:p.Glu118Lys, NP_001275759.1:p.Glu111Lys

Select item 146849193214.

rs1468491932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161723460 (GRCh38)
1:161693250 (GRCh37)
Canonical SPDI:: NC_000001.11:161723459:C:T
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161723460C>T, NC_000001.10:g.161693250C>T, NM_001002901.4:c.146C>T, NM_001002901.3:c.146C>T, NM_001002901.2:c.146C>T, NM_001320241.1:c.146C>T, NM_001288831.1:c.146C>T, NM_001288832.1:c.125C>T, NM_001288829.1:c.146C>T, NM_001288830.1:c.125C>T, NP_001002901.1:p.Pro49Leu, NP_001307170.1:p.Pro49Leu, NP_001275760.1:p.Pro49Leu, NP_001275761.1:p.Pro42Leu, NP_001275758.1:p.Pro49Leu, NP_001275759.1:p.Pro42Leu

Select item 146707964315.

rs1467079643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:161725852 (GRCh38)
1:161695642 (GRCh37)
Canonical SPDI:: NC_000001.11:161725851:A:C
Gene:: FCRLB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.161725852A>C, NC_000001.10:g.161695642A>C, NM_001002901.4:c.339A>C, NM_001002901.3:c.339A>C, NM_001002901.2:c.339A>C, NM_001320241.1:c.339A>C, NM_001288831.1:c.339A>C, NM_001288832.1:c.318A>C, NM_001288829.1:c.339A>C, NM_001288830.1:c.318A>C

Select item 146682647316.

rs1466826473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161726850 (GRCh38)
1:161696640 (GRCh37)
Canonical SPDI:: NC_000001.11:161726849:G:A
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161726850G>A, NC_000001.10:g.161696640G>A, NM_001002901.4:c.722G>A, NM_001002901.3:c.722G>A, NM_001002901.2:c.722G>A, NM_001320241.1:c.722G>A, NM_001288831.1:c.618G>A, NM_001288832.1:c.597G>A, NM_001288829.1:c.577G>A, NM_001288830.1:c.556G>A, NM_152378.1:c.729G>A, NP_001002901.1:p.Arg241His, NP_001307170.1:p.Arg241His, NP_001275758.1:p.Ala193Thr, NP_001275759.1:p.Ala186Thr

Select item 146533374717.

rs1465333747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161727406 (GRCh38)
1:161697196 (GRCh37)
Canonical SPDI:: NC_000001.11:161727405:C:T
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000001.11:g.161727406C>T, NC_000001.10:g.161697196C>T, NM_001002901.4:c.1025C>T, NM_001002901.3:c.1025C>T, NM_001002901.2:c.1025C>T, NM_001320241.1:c.1025C>T, NM_001288831.1:c.*93C>T, NM_001288832.1:c.*93C>T, NM_001288829.1:c.880C>T, NM_001288830.1:c.859C>T, NM_152378.1:c.*93C>T, NP_001002901.1:p.Pro342Leu, NP_001307170.1:p.Pro342Leu, NP_001275758.1:p.Arg294Trp, NP_001275759.1:p.Arg287Trp

Select item 146306274618.

rs1463062746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161727458 (GRCh38)
1:161697248 (GRCh37)
Canonical SPDI:: NC_000001.11:161727457:C:T
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161727458C>T, NC_000001.10:g.161697248C>T, NM_001002901.4:c.1077C>T, NM_001002901.3:c.1077C>T, NM_001002901.2:c.1077C>T, NM_001320241.1:c.1077C>T, NM_001288831.1:c.*145C>T, NM_001288832.1:c.*145C>T, NM_001288829.1:c.932C>T, NM_001288830.1:c.911C>T, NM_152378.1:c.*145C>T, NP_001275758.1:p.Pro311Leu, NP_001275759.1:p.Pro304Leu

Select item 146114289419.

rs1461142894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161725884 (GRCh38)
1:161695674 (GRCh37)
Canonical SPDI:: NC_000001.11:161725883:G:A
Gene:: FCRLB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.161725884G>A, NC_000001.10:g.161695674G>A, NM_001002901.4:c.371G>A, NM_001002901.3:c.371G>A, NM_001002901.2:c.371G>A, NM_001320241.1:c.371G>A, NM_001288831.1:c.371G>A, NM_001288832.1:c.350G>A, NM_001288829.1:c.371G>A, NM_001288830.1:c.350G>A, NP_001002901.1:p.Cys124Tyr, NP_001307170.1:p.Cys124Tyr, NP_001275760.1:p.Cys124Tyr, NP_001275761.1:p.Cys117Tyr, NP_001275758.1:p.Cys124Tyr, NP_001275759.1:p.Cys117Tyr

Select item 145966007620.

rs1459660076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:161725951 (GRCh38)
1:161695741 (GRCh37)
Canonical SPDI:: NC_000001.11:161725950:C:A
Gene:: FCRLB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.161725951C>A, NC_000001.10:g.161695741C>A, NM_001002901.4:c.438C>A, NM_001002901.3:c.438C>A, NM_001002901.2:c.438C>A, NM_001320241.1:c.438C>A, NM_001288831.1:c.438C>A, NM_001288832.1:c.417C>A, NM_001288829.1:c.438C>A, NM_001288830.1:c.417C>A, NM_152378.1:c.-171C>A, NP_001002901.1:p.Tyr146Ter, NP_001307170.1:p.Tyr146Ter, NP_001275760.1:p.Tyr146Ter, NP_001275761.1:p.Tyr139Ter, NP_001275758.1:p.Tyr146Ter, NP_001275759.1:p.Tyr139Ter

dbSNP

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